vep_hgvs_batch
Annotate multiple genetic variants in batch by providing HGVS notations to retrieve comprehensive variant effect predictions including pathogenicity scores, protein domains, and conservation from Ensembl VEP.
Instructions
Annotate multiple variants using HGVS notation in batch
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| species | Yes | Species name (e.g., 'homo_sapiens', 'mus_musculus') | homo_sapiens |
| hgvs_notations | Yes | List of HGVS notations (e.g., ['ENST00000366667:c.803C>T', '9:g.22125504G>C']) | |
| canonical | No | Include only canonical transcripts per gene | |
| hgvs | No | Include HGVS nomenclature | |
| domains | No | Include protein domain information | |
| ccds | No | Include CCDS transcript identifiers | |
| protein | No | Include protein sequence identifiers | |
| AlphaMissense | No | Include AlphaMissense pathogenicity scores | |
| CADD | No | Include CADD deleteriousness scores | |
| REVEL | No | Include REVEL pathogenicity scores | |
| Conservation | No | Include conservation scores |