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myvariant.md

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1# MyVariant.info

3Public annotation aggregation service: `https://myvariant.info/v1`.

4[Annotation contract](https://docs.myvariant.info/en/latest/doc/variant_annotation_service.html)

5and [query contract](https://docs.myvariant.info/en/latest/doc/variant_query_service.html).

7```text

8GET /query?q=rs28934578&fields=cadd.phred,dbsnp.rsid&size=5

9GET /variant/chr17:g.7578406C%3EG?fields=cadd.phred,dbsnp.rsid

10```

12`/variant/{id}` uses HGVS genomic identifiers on hg19 as documented. A returned

13`hg38` coordinate field does not change the input identifier convention.

14An rsID can produce multiple alternate-allele hits; compare alleles and assembly

15before selecting a hit. `fields` supports comma-separated fields and dot paths.

16Batch POST `/variant` accepts at most 1,000 `ids`; larger inputs can be omitted.

17Query results use `hits`, `total`, and pagination parameters `size`/`from`.

19Scores are aggregated from particular source releases. Record source and model

20versions, genome assembly, alleles, transcript and retrieval date. A difference

21between a stored CADD score and an Ensembl VEP score may reflect a release,

22assembly or model difference; there is no justified universal PHRED threshold

23for declaring a score stale. For clinical classifications, retrieve the full

24ClinVar record, review status, condition and conflicting submissions.

MyVariant.info

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.

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