VarSome API Release

VarSome API Update - V 11.15

By Aggeliki Karabassi on May, 10 2024

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Aggeliki Karabassi

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On 7th June 2024 we will be releasing the Q2 API changes for the VarSome API (stable-api.varsome.com).

The Stable API will update version 11.10 to version 11.15 with data frozen as of the 8th May 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:

Database name

Data Type

Current

(Stable, Q1 '24)

Next Release

(Staging, Q2 '24)

AACT

gene

05-Jan-2024

01-Apr-2024

ACMG classifier

variant

11.10

11.15

AMP classifier

variant

11.10

11.15

HPO

disease

13-Jul-2023

07-Mar-2024

Ensembl

transcript

110

111

Mondo

disease

13-Jul-2023

21-Mar-2024

ClinVar

variant

15-Jan-2024

01-Apr-2024

ClinVar

region / CNV

08-Dec-2023

01-Apr-2024

CPIC

gene

05-Jan-2024

01-Apr-2024

dbNSFP

variant

4.5

4.7

GHR

gene

15-Jan-2024

01-Mar-2024

GWAS

variant

08-Dec-2023

07-Feb-2024

HGNC

gene

12-Dec-2023

17-Apr-2024

LOVD

variant

15-Jan-2024

17-Apr-2024

ClinGen

variant

15-Jan-2024

01-Apr-2024

ClinGen

gene

19-Dec-2023

01-Apr-2024

ClinGen

region / CNV

19-Dec-2023

01-Apr-2024

ClinGen

Disease Validity

07-Jun-2022

08-Feb-2024

OMIM

gene

04-Jan-2024

17-Apr-2024

OMIM

variant

04-Jan-2024

17-Apr-2024

PharmGKB

gene

15-Jan-2024

01-Apr-2024

PharmGKB

variant

15-Jan-2024

01-Apr-2024

PMKB

variant

15-Jan-2024

08-Apr-2024

The Human Protein Atlas

gene

05-Jan-2024

14-Mar-2024

RefSeq

transcript

221

223

DECIPHER

region / CNV

08-Dec-2023

01-Apr-2024

Known Pathogenic

gene

02-Jan-2024

07-May-2024

Known Pathogenic

variant

02-Jan-2024

07-May-2024

Pubmed

variant

02-Jan-2024

07-May-2024

Pubmed

gene

02-Jan-2024

07-May-2024

UniProt Variants

variant

08-Dec-2023

01-Apr-2024

 

JSON Schema Changes

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

Variant Annotation Schema Changes

Response modifications

The response changes in this section concern both GET /lookup/{spec_query}/{ref_genome} and POST /lookup/batch/{ref_genome} requests.

The wustil_civic attribute in the responses has been modified to include additional information:

"molecular_profile_civic_url": "string",

"molecular_profiles": [

  {

    "molecular_profile": {

      "evidence_item_ids": [

        0

      ],

      "name": "string",

      "summary": "string",

      "variant": [

        {

          "variant_ids": []

        }

      ]

    },

    "molecular_profile_civic_id": 0

  }

]

 

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

 

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