Generate Precision Medicine Variant Report
generate_variant_clinical_reportCross-reference seven biomedical databases to generate a structured variant interpretation report for any HGVS variant, including ACMG/AMP criteria and an actionability statement for research.
Instructions
Generate a multi-source variant interpretation report.
Cross-references evidence from up to seven upstream databases for a single HGVS variant into one structured report. The report is a research aid: it surfaces the upstream evidence and the ACMG/AMP criteria that the available evidence supports, but it is not a clinical interpretation and must not be used as a diagnostic without independent review by a qualified clinical laboratory.
Ensembl VEP — functional consequence, SIFT/PolyPhen/CADD predictions
ClinVar — clinical pathogenicity classifications and review status
gnomAD v4 — population allele frequencies (gnomAD v4, ~807k individuals)
AlphaMissense — deep-learning missense pathogenicity (Cheng et al. 2023)
Open Targets — disease-gene evidence scores
DisGeNET — curated gene-disease association scores
ChEMBL — approved drugs acting on the gene product
The report includes a draft ACMG/AMP criteria checklist with evidence mapping, a structural impact summary, and an actionability statement.
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| params | Yes |
Output Schema
| Name | Required | Description | Default |
|---|---|---|---|
No arguments | |||