工具 API

variant_searcher

Search MyVariant.info for genetic variant DATABASE RECORDS. ⚠️ PREREQUISITE: Use the 'think' tool FIRST to plan your research strategy! Important: This searches for variant DATABASE RECORDS (frequency, significance, etc.), NOT articles about variants. For articles about variants, use article_searcher. Searches the comprehensive variant database including: - Population frequencies (gnomAD, 1000 Genomes, etc.) - Clinical significance (ClinVar) - Functional predictions (SIFT, PolyPhen, CADD) - Gene and protein consequences Search by various identifiers or filter by clinical/functional criteria.

其他1 积分

调用信息

工具标识: biomcp.variant_searcher
服务提供方: 生物医学研究
平均响应: 0 ms
近 7 天调用: 0

输入参数

gene

Gene symbol (e.g., 'BRAF', 'TP53')

hgvs

HGVS notation (genomic, coding, or protein)

hgvsp

Protein change in HGVS format (e.g., 'p.V600E')

hgvsc

Coding sequence change (e.g., 'c.1799T>A')

rsid

dbSNP rsID (e.g., 'rs113488022')

region

Genomic region (e.g., 'chr7:140753336-140753337')

significance

Clinical significance filter

frequency_min

Minimum allele frequency

frequency_max

Maximum allele frequency

consequence

Variant consequence (e.g., 'missense_variant')

cadd_score_min

Minimum CADD score for pathogenicity

sift_prediction

SIFT functional prediction

polyphen_prediction

PolyPhen-2 functional prediction

include_cbioportal

Include cBioPortal cancer genomics summary when searching by gene

include_oncokb

Include OncoKB precision oncology summary when searching by gene

page

Page number (1-based)

page_size

Results per page