variant_getter
Retrieve detailed genetic variant information, including gene location, population frequencies, clinical significance, and functional predictions, using HGVS, rsID, or MyVariant ID formats.
Instructions
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
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') |
Input Schema (JSON Schema)
{
"properties": {
"include_external": {
"default": true,
"description": "Include external annotations (TCGA, 1000 Genomes, functional predictions)",
"title": "Include External",
"type": "boolean"
},
"variant_id": {
"description": "Variant ID (HGVS, rsID, or MyVariant ID like 'chr7:g.140753336A>T')",
"title": "Variant Id",
"type": "string"
}
},
"required": [
"variant_id"
],
"title": "variant_getterArguments",
"type": "object"
}