Variant Pharmacogenomics

PharmGKB (clinPGx) — Pharmacogenomic Annotations

Usage

Tool Description

Query PharmGKB clinical annotations API to find drug-gene-variant interactions.
Database: PharmGKB / clinPGx (https://www.pharmgkb.org/)
API: GET https://api.clinpgx.org/v1/data/clinicalAnnotation?location.fingerprint={rsid}&view=base
Args:
    rs_id (str): dbSNP rsID (e.g. "rs7412")
Return:
    Clinical annotations: related drugs (chemicals), evidence level (1A/1B/2A/2B/3/4),
    related diseases, gene (APOE etc.), phenotype categories (efficacy/toxicity/dosage/PK),
    related guidelines and FDA labels.

Return Fields Explanation:
    - relatedChemicals: 关联的药物/化合物名称和 PharmGKB ID
    - levelOfEvidence.term: 证据级别 (1A=最强, 有CPIC/DPWG指南; 4=最弱, 个案报告)
    - location.genes: 变异所在基因
    - relatedDiseases: 关联疾病
    - types: 注释类型 (Efficacy=疗效, Toxicity=毒性, Dosage=剂量, PK=药代动力学)
    - relatedGuidelines: 关联的用药指南 (CPIC, DPWG 等)
    - relatedLabels: 关联的 FDA 药品标签

Query Example