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) |
Input Schema (JSON Schema)
{
"properties": {
"dataset": {
"default": "gnomad_r4",
"description": "Dataset ID (gnomad_r4, gnomad_r3, gnomad_r2_1, etc.)",
"type": "string"
},
"variant_id": {
"description": "Variant ID in format: chr-pos-ref-alt (e.g., 1-55516888-G-A)",
"type": "string"
}
},
"required": [
"variant_id"
],
"type": "object"
}