正文
获取原文件references/myvariant.md
Public annotation aggregation service: https://myvariant.info/v1.
Annotation contract
and query contract.
GET /query?q=rs28934578&fields=cadd.phred,dbsnp.rsid&size=5
GET /variant/chr17:g.7578406C%3EG?fields=cadd.phred,dbsnp.rsid
/variant/{id} uses HGVS genomic identifiers on hg19 as documented. A returned
hg38 coordinate field does not change the input identifier convention.
An rsID can produce multiple alternate-allele hits; compare alleles and assembly
before selecting a hit. fields supports comma-separated fields and dot paths.
Batch POST /variant accepts at most 1,000 ids; larger inputs can be omitted.
Query results use hits, total, and pagination parameters size/from.
Scores are aggregated from particular source releases. Record source and model versions, genome assembly, alleles, transcript and retrieval date. A difference between a stored CADD score and an Ensembl VEP score may reflect a release, assembly or model difference; there is no justified universal PHRED threshold for declaring a score stale. For clinical classifications, retrieve the full ClinVar record, review status, condition and conflicting submissions.