On 6th September 2024 we will be releasing the Q3 API changes for the VarSome API (stable-api.varsome.com).

The Stable API will update version 11.15 to version 12.1.1 with data frozen as of the 5th August 2024. This version has been successfully used in production for over a month.

The most recent version, used by VarSome itself, is always available at api.varsome.com.

Database Updates

The following databases have been updated:

JSON Schema Changes

Variants

API Request

In both the single variant and batch requests the request now accepts the alpha-missense value as part of the add-source-databases query parameter (e.g. ?alpha-missense=alpha-missense).

API Response

In both the single variant and batch requests the response now includes an alpha_missense property containing the Alpha Missense database score.

In both the single variant and batch requests the response now includes a publication_counts property containing a list of the publication counts related to the variant and all overlapping genes.

Genes

API Response

In both the single gene and batch requests the response now includes a publication_counts property containing a list of the publication counts related to the variant and all overlapping genes.

CNVs

API Response

The response now includes a publication_counts property containing a list of the publication counts related to the variant and all overlapping genes.

The response now includes under the genes property a saphetor_known_pathogenicity property containing information from the Known Pathogenic database at the gene level.

Reminder: all the data structures returned by the VarSome API are documented:

For variants here.

For genes here.

For CNVs here.

Please contact us if you need any further assistance with this release.