Generate Precision Medicine Variant Report
generate_variant_clinical_reportGenerate a structured report cross-referencing up to seven biomedical databases for an HGVS variant, separating source classifications from computational evidence without assigning a clinical tier.
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 research report. It preserves source classifications and computational observations separately; it does not assign an independent clinical tier or establish ACMG criteria.
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 unassessed ACMG-related computational signals, sequence consequences, and gene-level drug context. It does not compute variant-specific three-dimensional structural impact.
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| params | Yes |
Output Schema
| Name | Required | Description | Default |
|---|---|---|---|
No arguments | |||