Get Variant Counts
get_variant_countsRetrieve residue-level ClinVar variant annotations and Pfam homolog counts for a human transcript, filtered by gnomAD or ClinVar source, with options for single position, range, or whole protein pagination.
Instructions
Return residue-level ClinVar annotations and explicitly-labelled Pfam homolog aggregates on a built landscape, filtered by source (both|gnomad|clinvar). MetaDome has no true residue-level gnomAD count, so it is marked unavailable, never zero. Accepts one position, an inclusive range, or the whole protein (paginated); ClinVar variants include NCBI urls. Signature: get_variant_counts(transcript_id=, position=, position_start=, position_stop=, source=, limit=, offset=, response_mode=).
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| limit | No | Maximum rows to return (1..1000; default 200). | |
| offset | No | Zero-based offset into the result list (for paging). | |
| source | No | Evidence source to report: both|gnomad|clinvar (default both). | both |
| position | No | A single 1-based residue position. | |
| position_stop | No | Inclusive stop of a residue range. | |
| response_mode | No | Verbosity: minimal|compact|standard|full (default compact). | compact |
| transcript_id | Yes | A versioned Ensembl transcript id (the .N version suffix is required), e.g. ENST00000269305.4. Resolve a gene symbol with resolve_transcript first. | |
| position_start | No | Inclusive start of a residue range. |