On 17th September 2021 the stable Q3 version of the VarSome API (stable-api.varsome.com) has been updated from version 9.4.6 to version 10.151 with data frozen as of the 23rd August 2021.
The new version will be available for testing at staging-api.varsome.com.
The most recent version, used by VarSome itself, is available at api.varsome.com.
Our new CNV annotation is not included in this release but will be available in the Q4 release.
Functional Changes
Please refer to the following release notes for changes to the overall system:
Database Updates
Gene Databases
The following databases have updated contents:
|
Database |
Old Version |
New Version |
Comment |
|
AACT |
12_may_2021 |
14-Jul-2021 |
|
|
CGD |
15 Feb 2021 |
15 June 2021 |
|
|
CIViC |
12_may_2021 |
13-Jul-2021 |
|
|
dbNSFP |
4_1 |
4.2 |
|
|
Genomic England Panel App |
1.12 |
1.13 |
The following databases have simply had a change in how the version name is presented with no change to the internal data:
|
Database |
Old Version |
New Version |
Comment |
|
DGI |
15_feb_2021 |
15-Feb-2021 |
|
|
GHR |
03_aug_2020 |
03-Aug-2020 |
|
|
ExAC |
18_sep_2018 |
18-Sep-2018 |
|
|
GnomAD |
2_1 |
2.1 |
|
|
UNIL Domino |
04_sep_2019 |
04-Sep-2019 |
Other Databases
The following databases have updated contents:
|
Database |
Old Version |
New Version |
Comment |
|
dbNSFP |
4.1 |
4.2 |
New keys for additional in-silico predictors: dann_rankscore, dann_score, m_cap_pred, m_cap_rankscore, m_cap_score, metarnn_pred, metarnn_rankscore, Metarnn_score. The bstatistic_rankscore has been removed. |
|
Ensembl Transcripts |
103 |
104 |
|
|
NCBI ClinVar |
11-May-2021 |
13-Jul-2021 |
|
|
RefSeq Transcripts |
205 |
206 |
|
|
Broad ExacCNV |
20180227 |
01-Jul-2021 |
|
|
NCBI dbVar |
30-Jun-2021 |
This is a newly added database of structural variants. |
|
|
Sanger DECIPHER |
13-Jul-2021 |
06-Apr-2021 |
|
|
TCAG DGV |
27-Feb-2018 |
30-Jun-202 |
|
|
UniProt Regions |
11-May-2021 |
13-Jul-2021 |
|
|
Sanger Cosmic Licensed |
v92 |
v94 |
|
|
Saphetor Known Pathogenicity |
1-Jun-2021 |
12-Aug-2021 |
|
|
WUSTL CIViC |
12-May-2021 |
13-Jul-2021 |
|
Further Information and Support
An overview of the VarSome API is available here with more detailed information here.
Please contact us at the usual address support@varsome.com should you require any additional information or run into any major issues. As ever we look forward to your feedback and suggestions to improve our platform.
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