GeneBe
Annotate and classify human genetic variants with GeneBe (ACMG, gnomAD, ClinVar). Research use only.
사용해야 할까요
품질 및 안전성
A
도구 정의와 프로토콜 준수에 대한 자동 분석을 기반으로 합니다.
컨텍스트 비용
~5,264토큰 (도구 정의)
~8.9 KB일반적인 응답 크기
상당한 주의 영향 (128k 컨텍스트의 4.11%)
이는 서버의 도구가 모델의 컨텍스트에 로드될 때마다 소비되는 대략적인 토큰 수입니다. 수치가 높을수록 다른 작업에 사용할 수 있는 주의가 줄어듭니다.
설치
원클릭 설치
`claude_desktop_config.json` 파일에 다음을 추가하세요:
{
"mcpServers": {
"genebe-mcp": {
"url": "https://mcp.genebe.net/v1/mcp"
}
}
}원격 엔드포인트
https://mcp.genebe.net/v1/mcpstreamable-http할 수 있는 일
도구 목록
도구 (6)
🟢 읽기 전용🟡 쓰기🔴 삭제⚪ 알 수 없음
🟢annotate_variant(variant, genome, transcript, gene_symbol)
Annotate and classify one human genetic variant using GeneBe. Start here for any question about a variant (what is it, is it pathogenic/benign, how common is it). Returns the ACMG verdict with points and criteria, population frequency (gnomAD), predictor scores (REVEL, AlphaMissense, SpliceAI, ...), ClinVar status, transcript consequences, and links to the GeneBe page to cite. Research use only; not a diagnosis.
입력 스키마
{
"type": "object",
"properties": {
"variant": {
"description": "The variant. Accepts 'chr-pos-ref-alt' (6-160585140-T-G), HGVS with transcript (NM_005577.4:c.4195A>C), rsID (rs41272110), SPDI, or 'GENE p.Thr1399Pro'.",
"title": "Variant",
"type": "string"
},
"genome": {
"default": "hg38",
"description": "Genome build of coordinate input. Ignored for HGVS/rsID.",
"enum": [
"hg19",
"hg38",
"t2t"
],
"title": "Genome",
"type": "string"
},
"transcript": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"default": null,
"description": "Force this transcript for the classification, e.g. NM_000546.6",
"title": "Transcript"
},
"gene_symbol": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"default": null,
"description": "Force this gene for the classification, e.g. TP53",
"title": "Gene Symbol"
}
},
"required": [
"variant"
],
"title": "annotate_variantArguments"
}출력 스키마
{
"type": "object",
"properties": {
"summary": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"default": null,
"description": "Human-readable variant summary from GeneBe, when the backend provides one",
"title": "Summary"
},
"variant": {
"$ref": "#/$defs/VariantCoordinates"
},
"dbsnp": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"title": "Dbsnp"
},
"verdict": {
"$ref": "#/$defs/Verdict"
},
"frequency": {
"$ref": "#/$defs/Frequency"
},
"consequences": {
"items": {
"$ref": "#/$defs/Consequence"
},
"title": "Consequences",
"type": "array"
},
"total_consequences": {
"title": "Total Consequences",
"type": "integer"
},
"scores": {
"$ref": "#/$defs/Scores"
},
"clinvar": {
"anyOf": [
{
"$ref": "#/$defs/ClinVar"
},
{
"type": "null"
}
]
},
"conservation": {
"additionalProperties": {
"$ref": "#/$defs/Score"
},
"title": "Conservation",
"type": "object"
},
"gene": {
"$ref": "#/$defs/GeneRef"
},
"links": {
"$ref": "#/$defs/Links"
},
"warning": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"default": null,
"title": "Warning"
},
"truncated": {
"default": false,
"title": "Truncated",
"type": "boolean"
},
"disclaimer": {
"default": "For research use only. Not a diagnosis; results must be reviewed by a qualified specialist before any clinical use.",
"title": "Disclaimer",
"type": "string"
}
},
"required": [
"variant",
"dbsnp",
"verdict",
"frequency",
"consequences",
"total_consequences",
"scores",
"clinvar",
"conservation",
"gene",
"links"
],
"$defs": {
"ClinVar": {
"properties": {
"classification": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"title": "Classification"
},
"review_status": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"title": "Review Status"
},
"conditions": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"title": "Conditions"
}
},
"required": [
"classification",
"review_status",
"conditions"
],
"title": "ClinVar",
"type": "object"
},
"Consequence": {
"properties": {
"transcript": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"title": "Transcript"
},
"gene_symbol": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"title": "Gene Symbol"
},
"consequences": {
"items": {
"type": "string"
},
"title": "Consequences",
"type": "array"
},
"hgvs_c": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"title": "Hgvs C"
},
"hgvs_p": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"title": "Hgvs P"
},
"mane_select": {
"title": "Mane Select",
"type": "boolean"
},
"canonical": {
"title": "Canonical",
"type": "boolean"
},
"exon_rank": {
"anyOf": [
{
"type": "integer"
},
{
"type": "null"
}
],
"title": "Exon Rank"
},
"exon_count": {
"anyOf": [
{
"type": "integer"
},
{
"type": "null"
}
],
"title": "Exon Count"
}
},
"required": [
"transcript",
"gene_symbol",
"consequences",
"hgvs_c",
"hgvs_p",
"mane_select",
"canonical",
"exon_rank",
"exon_count"
],
"title": "Consequence",
"type": "object"
},
"Criterion": {
"properties": {
"code": {
"description": "Criterion with strength, e.g. 'BA1' or 'PP3_Strong'",
"title": "Code",
"type": "string"
},
"reason": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"default": null,
"description": "Why the criterion fired, when the backend provides it",
"title": "Reason"
}
},
"required": [
"code"
],
"title": "Criterion",
"type": "object"
},
"Frequency": {
"properties": {
"combined": {
"$ref": "#/$defs/PopulationCounts"
},
"gnomad_exomes": {
"$ref": "#/$defs/PopulationCounts"
},
"gnomad_genomes": {
"$ref": "#/$defs/PopulationCounts"
}
},
"required": [
"combined",
"gnomad_exomes",
"gnomad_genomes"
],
"title": "Frequency",
"type": "object"
},
"GeneRef": {
"properties": {
"symbol": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"title": "Symbol"
},
"hgnc_id": {
"anyOf": [
{
"type": "integer"
},
{
"type": "null"
}
],
"title": "Hgnc Id"
},
"transcript": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"description": "Transcript used for the classification",
"title": "Transcript"
}
},
"required": [
"symbol",
"hgnc_id",
"transcript"
],
"title": "GeneRef",
"type": "object"
},
"GeneVerdict": {
"properties": {
"gene_symbol": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"title": "Gene Symbol"
},
"transcript": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"title": "Transcript"
},
"hgvs_c": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"title": "Hgvs C"
},
"hgvs_p": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"title": "Hgvs P"
},
"classification": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"title": "Classification"
},
"points": {
"anyOf": [
{
"type": "integer"
},
{
"type": "null"
}
],
"title": "Points"
},
"criteria": {
"items": {
"type": "string"
},
"title": "Criteria",
"type": "array"
}
},
"required": [
"gene_symbol",
"transcript",
"hgvs_c",
"hgvs_p",
"classification",
"points",
"criteria"
],
"title": "GeneVerdict",
"type": "object"
},
"Links": {
"properties": {
"variant": {
"title": "Variant",
"type": "string"
},
"gene": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"title": "Gene"
}
},
"required": [
"variant",
"gene"
],
"title": "Links",
"type": "object"
},
"PopulationCounts": {
"properties": {
"allele_count": {
"anyOf": [
{
"type": "integer"
},
{
"type": "null"
}
],
"title": "Allele Count"
},
"allele_frequency": {
"anyOf": [
{
"type": "number"
},
{
"type": "null"
}
],
"title": "Allele Frequency"
},
"homozygotes": {
"anyOf": [
{
"type": "integer"
},
{
"type": "null"
}
],
"title": "Homozygotes"
}
},
"required": [
"allele_count",
"allele_frequency",
"homozygotes"
],
"title": "PopulationCounts",
"type": "object"
},
"Score": {
"properties": {
"score": {
"anyOf": [
{
"type": "number"
},
{
"type": "null"
}
],
"title": "Score"
},
"prediction": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"title": "Prediction"
}
},
"required": [
"score",
"prediction"
],
"title": "Score",
"type": "object"
},
"Scores": {
"properties": {
"selected_computational": {
"anyOf": [
{
"$ref": "#/$defs/Score"
},
{
"type": "null"
}
],
"description": "Predictor GeneBe picked for the ACMG call"
},
"selected_computational_source": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"title": "Selected Computational Source"
},
"selected_splice": {
"anyOf": [
{
"$ref": "#/$defs/Score"
},
{
"type": "null"
}
]
},
"selected_splice_source": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"title": "Selected Splice Source"
},
"predictors": {
"additionalProperties": {
"$ref": "#/$defs/Score"
},
"description": "Every available predictor, keyed by name",
"title": "Predictors",
"type": "object"
}
},
"required": [
"selected_computational",
"selected_computational_source",
"selected_splice",
"selected_splice_source",
"predictors"
],
"title": "Scores",
"type": "object"
},
"VariantCoordinates": {
"properties": {
"genome": {
"title": "Genome",
"type": "string"
},
"chr": {
"title": "Chr",
"type": "string"
},
"pos": {
"description": "1-based VCF position",
"title": "Pos",
"type": "integer"
},
"ref": {
"title": "Ref",
"type": "string"
},
"alt": {
"title": "Alt",
"type": "string"
}
},
"required": [
"genome",
"chr",
"pos",
"ref",
"alt"
],
"title": "VariantCoordinates",
"type": "object"
},
"Verdict": {
"properties": {
"classification": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"description": "e.g. Pathogenic, Likely_benign, Uncertain_significance",
"title": "Classification"
},
"points": {
"anyOf": [
{
"type": "integer"
},
{
"type": "null"
}
],
"description": "Total ACMG points; positive favours pathogenic, negative benign",
"title": "Points"
},
"criteria": {
"items": {
"$ref": "#/$defs/Criterion"
},
"title": "Criteria",
"type": "array"
},
"guideline": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"default": null,
"title": "Guideline"
},
"per_gene": {
"description": "Verdict for every overlapping gene, when more than one",
"items": {
"$ref": "#/$defs/GeneVerdict"
},
"title": "Per Gene",
"type": "array"
},
"disclaimer": {
"default": "For research use only. Not a diagnosis; results must be reviewed by a qualified specialist before any clinical use.",
"title": "Disclaimer",
"type": "string"
}
},
"required": [
"classification",
"points",
"criteria",
"per_gene"
],
"title": "Verdict",
"type": "object"
}
},
"title": "AnnotationResult"
}🟢explain_acmg_decision_path(variant, genome, tree, version)
Explain step by step why each classification criterion did or did not apply to a variant. Use after annotate_variant when the user asks "why was this classified that way?". Returns an ASCII rendering of the decision tree with the evaluated conditions. By default it explains the germline ACMG verdict that annotate_variant returns; the somatic trees 'oncogenicity' (2022) and 'acgs-uk-onco' (2025) can be requested explicitly. Research use only.
입력 스키마
{
"type": "object",
"properties": {
"variant": {
"description": "The variant, in any notation accepted by annotate_variant.",
"title": "Variant",
"type": "string"
},
"genome": {
"default": "hg38",
"description": "Genome build of coordinate input.",
"enum": [
"hg19",
"hg38",
"t2t"
],
"title": "Genome",
"type": "string"
},
"tree": {
"default": "germline",
"description": "Decision tree: 'germline' (default), 'oncogenicity' or 'acgs-uk-onco'.",
"title": "Tree",
"type": "string"
},
"version": {
"default": "2019",
"description": "Tree version: germline 2019 (default), oncogenicity 2022, acgs-uk-onco 2025.",
"title": "Version",
"type": "string"
}
},
"required": [
"variant"
],
"title": "explain_acmg_decision_pathArguments"
}출력 스키마
{
"type": "object",
"properties": {
"variant": {
"$ref": "#/$defs/VariantCoordinates"
},
"tree": {
"title": "Tree",
"type": "string"
},
"version": {
"title": "Version",
"type": "string"
},
"text": {
"description": "ASCII rendering of how each criterion was evaluated",
"title": "Text",
"type": "string"
},
"truncated": {
"default": false,
"title": "Truncated",
"type": "boolean"
},
"disclaimer": {
"default": "For research use only. Not a diagnosis; results must be reviewed by a qualified specialist before any clinical use.",
"title": "Disclaimer",
"type": "string"
}
},
"required": [
"variant",
"tree",
"version",
"text"
],
"$defs": {
"VariantCoordinates": {
"properties": {
"genome": {
"title": "Genome",
"type": "string"
},
"chr": {
"title": "Chr",
"type": "string"
},
"pos": {
"description": "1-based VCF position",
"title": "Pos",
"type": "integer"
},
"ref": {
"title": "Ref",
"type": "string"
},
"alt": {
"title": "Alt",
"type": "string"
}
},
"required": [
"genome",
"chr",
"pos",
"ref",
"alt"
],
"title": "VariantCoordinates",
"type": "object"
}
},
"title": "DecisionPath"
}🟢convert_variant(variant, input_genome)
Convert a variant written in any notation into normalized hg38 genomic coordinates. Use when you only need the chr/pos/ref/alt of a variant (for example to translate HGVS or an rsID), without annotation. Does not classify the variant; use annotate_variant for that.
입력 스키마
{
"type": "object",
"properties": {
"variant": {
"description": "HGVS (NM_007294.4:c.3756_3759del), rsID (rs429358), SPDI (NC_000007.14:11324573:C:T), 'chr-pos-ref-alt', or 'GENE p.Thr1700Ile'.",
"title": "Variant",
"type": "string"
},
"input_genome": {
"default": "hg38",
"description": "Genome build of positional input (hg19 input is lifted to hg38).",
"enum": [
"hg19",
"hg38",
"t2t"
],
"title": "Input Genome",
"type": "string"
}
},
"required": [
"variant"
],
"title": "convert_variantArguments"
}출력 스키마
{
"type": "object",
"properties": {
"input": {
"title": "Input",
"type": "string"
},
"variants": {
"description": "Resolved hg38 coordinates (usually exactly one)",
"items": {
"$ref": "#/$defs/VariantCoordinates"
},
"title": "Variants",
"type": "array"
},
"error": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"default": null,
"title": "Error"
}
},
"required": [
"input",
"variants"
],
"$defs": {
"VariantCoordinates": {
"properties": {
"genome": {
"title": "Genome",
"type": "string"
},
"chr": {
"title": "Chr",
"type": "string"
},
"pos": {
"description": "1-based VCF position",
"title": "Pos",
"type": "integer"
},
"ref": {
"title": "Ref",
"type": "string"
},
"alt": {
"title": "Alt",
"type": "string"
}
},
"required": [
"genome",
"chr",
"pos",
"ref",
"alt"
],
"title": "VariantCoordinates",
"type": "object"
}
},
"title": "ConvertResult"
}🟢get_variant_effects(variant, genome)
List a variant's predicted molecular consequences on every overlapping transcript. Returns per-transcript HGVS (c. and p.), consequence terms (e.g. missense_variant) and impact, most severe and MANE Select transcripts first. Lightweight: no frequencies or classification.
입력 스키마
{
"type": "object",
"properties": {
"variant": {
"description": "The variant, in any notation accepted by annotate_variant.",
"title": "Variant",
"type": "string"
},
"genome": {
"default": "hg38",
"description": "Genome build of coordinate input.",
"enum": [
"hg19",
"hg38",
"t2t"
],
"title": "Genome",
"type": "string"
}
},
"required": [
"variant"
],
"title": "get_variant_effectsArguments"
}출력 스키마
{
"type": "object",
"properties": {
"variant": {
"$ref": "#/$defs/VariantCoordinates"
},
"effects": {
"items": {
"$ref": "#/$defs/Effect"
},
"title": "Effects",
"type": "array"
},
"total_effects": {
"title": "Total Effects",
"type": "integer"
},
"truncated": {
"default": false,
"title": "Truncated",
"type": "boolean"
}
},
"required": [
"variant",
"effects",
"total_effects"
],
"$defs": {
"Effect": {
"properties": {
"transcript": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"title": "Transcript"
},
"source": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"title": "Source"
},
"gene_symbol": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"title": "Gene Symbol"
},
"impact": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"title": "Impact"
},
"effects": {
"items": {
"type": "string"
},
"title": "Effects",
"type": "array"
},
"hgvs_c": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"title": "Hgvs C"
},
"hgvs_p": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"title": "Hgvs P"
},
"mane_select": {
"title": "Mane Select",
"type": "boolean"
},
"canonical": {
"title": "Canonical",
"type": "boolean"
},
"exon_rank": {
"anyOf": [
{
"type": "integer"
},
{
"type": "null"
}
],
"title": "Exon Rank"
},
"protein_id": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"title": "Protein Id"
}
},
"required": [
"transcript",
"source",
"gene_symbol",
"impact",
"effects",
"hgvs_c",
"hgvs_p",
"mane_select",
"canonical",
"exon_rank",
"protein_id"
],
"title": "Effect",
"type": "object"
},
"VariantCoordinates": {
"properties": {
"genome": {
"title": "Genome",
"type": "string"
},
"chr": {
"title": "Chr",
"type": "string"
},
"pos": {
"description": "1-based VCF position",
"title": "Pos",
"type": "integer"
},
"ref": {
"title": "Ref",
"type": "string"
},
"alt": {
"title": "Alt",
"type": "string"
}
},
"required": [
"genome",
"chr",
"pos",
"ref",
"alt"
],
"title": "VariantCoordinates",
"type": "object"
}
},
"title": "EffectsResult"
}🟢get_gene(gene, include_transcripts)
Look up a human gene: identifiers, location, MANE Select transcript, ClinGen gene-disease validity. Use for questions about a gene rather than a specific variant. Transcripts are listed with MANE Select first and capped; check total_transcripts.
입력 스키마
{
"type": "object",
"properties": {
"gene": {
"description": "Gene symbol (BRCA1), alias, HGNC id (HGNC:1100), 'entrez:672' or Ensembl id (ENSG...).",
"title": "Gene",
"type": "string"
},
"include_transcripts": {
"default": true,
"description": "Also list the gene's transcripts.",
"title": "Include Transcripts",
"type": "boolean"
}
},
"required": [
"gene"
],
"title": "get_geneArguments"
}출력 스키마
{
"type": "object",
"properties": {
"symbol": {
"title": "Symbol",
"type": "string"
},
"name": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"title": "Name"
},
"hgnc_id": {
"anyOf": [
{
"type": "integer"
},
{
"type": "null"
}
],
"title": "Hgnc Id"
},
"ncbi_id": {
"anyOf": [
{
"type": "integer"
},
{
"type": "null"
}
],
"title": "Ncbi Id"
},
"ensembl_id": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"title": "Ensembl Id"
},
"omim_id": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"title": "Omim Id"
},
"uniprot_id": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"title": "Uniprot Id"
},
"chr": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"title": "Chr"
},
"start": {
"anyOf": [
{
"type": "integer"
},
{
"type": "null"
}
],
"title": "Start"
},
"end": {
"anyOf": [
{
"type": "integer"
},
{
"type": "null"
}
],
"title": "End"
},
"mane_select_refseq": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"title": "Mane Select Refseq"
},
"mane_select_ensembl": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"title": "Mane Select Ensembl"
},
"gene_disease_validity": {
"items": {
"$ref": "#/$defs/GeneDisease"
},
"title": "Gene Disease Validity",
"type": "array"
},
"total_gene_disease_entries": {
"title": "Total Gene Disease Entries",
"type": "integer"
},
"message": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"default": null,
"description": "Set when an alias matched several genes",
"title": "Message"
},
"alternative_hgnc_ids": {
"items": {
"type": "string"
},
"title": "Alternative Hgnc Ids",
"type": "array"
},
"transcripts": {
"items": {
"$ref": "#/$defs/TranscriptSummary"
},
"title": "Transcripts",
"type": "array"
},
"total_transcripts": {
"title": "Total Transcripts",
"type": "integer"
},
"truncated": {
"default": false,
"title": "Truncated",
"type": "boolean"
},
"link": {
"title": "Link",
"type": "string"
}
},
"required": [
"symbol",
"name",
"hgnc_id",
"ncbi_id",
"ensembl_id",
"omim_id",
"uniprot_id",
"chr",
"start",
"end",
"mane_select_refseq",
"mane_select_ensembl",
"gene_disease_validity",
"total_gene_disease_entries",
"transcripts",
"total_transcripts",
"link"
],
"$defs": {
"GeneDisease": {
"properties": {
"disease": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"title": "Disease"
},
"classification": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"description": "ClinGen gene-disease validity",
"title": "Classification"
}
},
"required": [
"disease",
"classification"
],
"title": "GeneDisease",
"type": "object"
},
"TranscriptSummary": {
"properties": {
"id": {
"title": "Id",
"type": "string"
},
"protein_id": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"title": "Protein Id"
},
"mane_select": {
"title": "Mane Select",
"type": "boolean"
},
"mane_plus_clinical": {
"title": "Mane Plus Clinical",
"type": "boolean"
},
"coding_exons": {
"anyOf": [
{
"type": "integer"
},
{
"type": "null"
}
],
"title": "Coding Exons"
}
},
"required": [
"id",
"protein_id",
"mane_select",
"mane_plus_clinical",
"coding_exons"
],
"title": "TranscriptSummary",
"type": "object"
}
},
"title": "GeneResult"
}🟢liftover_coordinate(query, from_genome, to_genome)
Convert a genomic position, interval or variant between genome builds (hg19, hg38, t2t). Check `status`: RESOLVED means one result, AMBIGUOUS means several candidates, anything else means it could not be mapped (see errors). For variants, ref/alt are rebuilt against the target reference and warnings such as REF_MISMATCH may apply.
입력 스키마
{
"type": "object",
"properties": {
"query": {
"description": "A position ('chr8:141310715'), an interval ('chr8:141310715-141310716') or a variant ('chr2-23423-A-C', HGVS, rsID).",
"title": "Query",
"type": "string"
},
"from_genome": {
"description": "Genome build of the input.",
"enum": [
"hg19",
"hg38",
"t2t"
],
"title": "From Genome",
"type": "string"
},
"to_genome": {
"description": "Genome build to convert to.",
"enum": [
"hg19",
"hg38",
"t2t"
],
"title": "To Genome",
"type": "string"
}
},
"required": [
"query",
"from_genome",
"to_genome"
],
"title": "liftover_coordinateArguments"
}출력 스키마
{
"type": "object",
"properties": {
"input": {
"title": "Input",
"type": "string"
},
"from_genome": {
"title": "From Genome",
"type": "string"
},
"to_genome": {
"title": "To Genome",
"type": "string"
},
"status": {
"description": "RESOLVED, AMBIGUOUS, UNRESOLVED, INVALID, NOT_RECOGNIZED or UNSUPPORTED",
"title": "Status",
"type": "string"
},
"candidates": {
"items": {
"$ref": "#/$defs/LiftoverCandidate"
},
"title": "Candidates",
"type": "array"
},
"warnings": {
"items": {
"$ref": "#/$defs/Issue"
},
"title": "Warnings",
"type": "array"
},
"errors": {
"items": {
"$ref": "#/$defs/Issue"
},
"title": "Errors",
"type": "array"
}
},
"required": [
"input",
"from_genome",
"to_genome",
"status",
"candidates",
"warnings",
"errors"
],
"$defs": {
"Issue": {
"properties": {
"code": {
"title": "Code",
"type": "string"
},
"message": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"title": "Message"
}
},
"required": [
"code",
"message"
],
"title": "Issue",
"type": "object"
},
"LiftoverCandidate": {
"properties": {
"chr": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"title": "Chr"
},
"start": {
"anyOf": [
{
"type": "integer"
},
{
"type": "null"
}
],
"title": "Start"
},
"end": {
"anyOf": [
{
"type": "integer"
},
{
"type": "null"
}
],
"title": "End"
},
"genome": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"title": "Genome"
},
"strand": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"title": "Strand"
},
"ref": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"default": null,
"title": "Ref"
},
"alt": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"default": null,
"title": "Alt"
},
"percent_mapped": {
"anyOf": [
{
"type": "number"
},
{
"type": "null"
}
],
"title": "Percent Mapped"
}
},
"required": [
"chr",
"start",
"end",
"genome",
"strand",
"percent_mapped"
],
"title": "LiftoverCandidate",
"type": "object"
}
},
"title": "LiftoverResult"
}커뮤니티
증거
최근 관측
검증됨버전이 기록되지 않음도구 6개