get_copy_number_variant_info
Retrieve copy number variant information from gnomAD v4 database using CNV ID and reference genome to analyze genetic variations.
Instructions
[gnomAD API] Retrieve copy number variant info (v4 only) Args: reference_genome (str): Reference genome (GRCh38) variantId (str): CNV ID (e.g. 18714__DUP) Returns: dict: CNV info Note: Not supported in v2/v3.
Input Schema
TableJSON Schema
| Name | Required | Description | Default |
|---|---|---|---|
| reference_genome | Yes | ||
| variantId | Yes | ||
| dataset | No | gnomad_cnv_r4 |
Output Schema
TableJSON Schema
| Name | Required | Description | Default |
|---|---|---|---|
No arguments | |||
Implementation Reference
- server.py:199-225 (handler)The tool 'get_copy_number_variant_info' is defined in server.py using the @mcp.tool() decorator. It validates the dataset and reference genome parameters before calling 'run_query_with_metadata' to fetch the CNV information from the gnomAD API.
def get_copy_number_variant_info( reference_genome: str, variantId: str, dataset: str = 'gnomad_cnv_r4' ) -> dict: """ [gnomAD API] Retrieve copy number variant info (v4 only) Args: reference_genome (str): Reference genome (GRCh38) variantId (str): CNV ID (e.g. 18714__DUP) Returns: dict: CNV info Note: Not supported in v2/v3. """ if dataset != 'gnomad_cnv_r4': raise ValueError("Only v4 is supported for copy number variant info.") if reference_genome != 'GRCh38': raise ValueError("Only GRCh38 is supported for copy number variant info.") variables = { 'dataset': dataset, 'reference_genome': reference_genome, 'variantId': variantId, } return run_query_with_metadata('copy_number_variant', variables)