Generate Precision Medicine Variant Report
generate_variant_clinical_reportCross-references evidence from eight biomedical databases to produce a single structured variant report with ACMG/AMP criteria mapping and actionability statement for research use.
Instructions
Generate a multi-source variant interpretation report.
Cross-references evidence from up to eight 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 across 807,162 individuals
AlphaMissense — deep-learning missense pathogenicity (Cheng et al. 2023)
MONDO — disease ontology context
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 |
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No arguments | |||