TOOL 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

Other1 credits

Call information

Tool slug: biomcp.variant_getter
Provider: BioMCP
Average response: 0 ms
Calls in 7 days: 0

Input parameters

variant_idrequired

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

include_external

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