variant_getter
Retrieve detailed genetic variant information: gene location, population frequencies, clinical significance, functional predictions, and external annotations. Supports HGVS, rsID, and MyVariant.id formats for easy querying.
Instructions
Fetch comprehensive details for a specific genetic variant.
Input Schema
Name | Required | Description | Default |
---|---|---|---|
include_external | No | Include external annotations (TCGA, 1000 Genomes, functional predictions) | |
variant_id | Yes | Variant ID (HGVS, rsID, or MyVariant ID like 'chr7:g.140753336A>T') |