Variant Analysis
variant_analysisClassify variants with ACMG guidelines, review population frequencies, ClinVar status, splice impacts, and generate integrated reports.
Instructions
Merged variant-interpretation workflow for ACMG classification, population frequency, ClinVar review, splice review, and full integrated reporting.
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| action | Yes | Variant workflow step. | full_report |
| gene_symbol | No | HGNC gene symbol. | |
| variant | No | Variant notation, rsID, HGVS, or protein-change string. | |
| inheritance | No | Inheritance mode for ACMG scoring. | unknown |
| consequence | No | Optional VEP consequence if already known. | |
| proband_phenotype | No | Clinical phenotype context. | |
| populations | No | Population IDs to report for gnomAD frequencies. |