API and downloads

Moon API

Moon offers an API to import VCFs, patient information and family relations. In addition, the API can be used to queue samples for analysis, request the list of variants shortlisted by Moon, or the full list of annotated rare variants. When an analysis completes successfully, Moon can call an API endpoint on your server. The automatically generated report notes for reported variants can also be retrieved through the API. Finally, the KB and Projects can be managed through the API.

The API uses json throughout. It can be accessed from any programming language, including Ruby, Python, Perl, PHP, Java, etc.

In order to authenticate API requests, you will need your email address and your API token. More information on each of the API options, and examples for each scenario that already include the required credentials for your account are provided via the Account page or can be accessed at https://moon.diploid.com/account/api. Login is required to access this API information.

Downloads

Moon allows you to download the following files, by using the drop-down menu next to the sample name on the analysis screen:

  • The annotated list of variants in the shortlist (SNV and SV) of Moon as CSV or Excel files.

  • An annotated list of all rare SNV variants (with PASS in the VCF Filter field and a gnomAD allele frequency <2%) as CSV file. The annotation in this file includes the indication of why each specific variant was filtered out by Moon in the automated pipeline. This list also indicates which variants could (potentially) cause a carrier status for a recessive disease of which the presentation is of relevance for the reported clinical phenotype.

In addition, it is possible to download the set of variants (SNVs or SVs) that are in accordance with a combination of filters of your choice in the Filter view.