get_region_variants
Retrieve genetic variants within a specified genomic region using chromosome, start, and stop positions. Access variant data from the gnomAD database with customizable dataset and reference genome options.
Instructions
Get variants in a specific genomic region
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| chrom | Yes | Chromosome (1-22, X, Y) | |
| dataset | No | Dataset ID | gnomad_r4 |
| reference_genome | No | Reference genome | GRCh38 |
| start | Yes | Start position | |
| stop | Yes | Stop position |
Input Schema (JSON Schema)
{
"properties": {
"chrom": {
"description": "Chromosome (1-22, X, Y)",
"type": "string"
},
"dataset": {
"default": "gnomad_r4",
"description": "Dataset ID",
"type": "string"
},
"reference_genome": {
"default": "GRCh38",
"description": "Reference genome",
"type": "string"
},
"start": {
"description": "Start position",
"type": "number"
},
"stop": {
"description": "Stop position",
"type": "number"
}
},
"required": [
"chrom",
"start",
"stop"
],
"type": "object"
}