工具 API

variant_getter

Fetch comprehensive details for a specific genetic variant. Retrieves all available information for a variant including: - Gene location and consequences - Population frequencies across databases - Clinical significance from ClinVar - Functional predictions - External annotations (TCGA cancer data, conservation scores) Accepts various ID formats: - HGVS: NM_004333.4:c.1799T>A - rsID: rs113488022 - MyVariant ID: chr7:g.140753336A>T

其他1 积分

调用信息

工具标识: biomcp.variant_getter
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

variant_id必填

Variant ID (HGVS, rsID, or MyVariant ID like 'chr7:g.140753336A>T')

include_external

Include external annotations (TCGA, 1000 Genomes, functional predictions)