get_variant
Retrieve detailed genetic variant information, including population frequencies and genomic data, by specifying a variant ID and dataset from gnomAD’s Genome Aggregation Database.
Instructions
Get detailed information about a specific variant
Input Schema
Name | Required | Description | Default |
---|---|---|---|
dataset | No | Dataset ID (gnomad_r4, gnomad_r3, gnomad_r2_1, etc.) | gnomad_r4 |
variant_id | Yes | Variant ID in format: chr-pos-ref-alt (e.g., 1-55516888-G-A) |