API for COSMIC Structural Genomic Rearrangements data

This API provides information from the COSMIC Structural Genomic Rearrangements data set provided by the Sanger Institute. We've reduced the data set so that there is one data record per MutationID; the record from COSMIC with the most fields filled in was chosen for each Mutation ID.

Source files: Structural Variants data and Breakpoints data.

API Demo

The following demo shows how this API might be used with an autocompleter we've developed. (Example: Try typing 123.)

For further experimentation with the autocompleter and this API, try the autocompleter demo page.

API Documentation

API Base URL: https://clinicaltables.nlm.nih.gov/api/cosmic_struct/v3/search (+ query string parameters)

This data set may also be accessed through the FHIR ValueSet $expand operation.

In addition to the base URL, you will need to specify other parameters. See the query string parameters section below for details.

Query String Parameters and Default Values

At a minimum, when using the above base URL, you will need to specify the "terms" parameter containing a word or partial word to match.

A comma-separated list of additional fields to be returned for each retrieved list item. (See the Output format section for how the data for fields is returned.) If you wish the keys in the returned data hash to be something other than the field names, you can specify an alias for the field name by separating it from its field name with a colon, e.g., "ef=field_name1:alias1,field2,field_name3:alias3,etc. Note that not every field specified in the ef parameter needs to have an alias.
Parameter NameDefault ValueDescription
terms(Required.) The search string (e.g., just a part of a word) for which to find matches in the list. More than one partial word can be present in "terms", in which case there is an implicit AND between them.
maxList Optional, with a default of 7. Specifies the number of results requested, up to the upper limit of 500. If present but the value is empty, 500 will be used.
qAn optional, additional query string used to further constrain the results returned by the "terms" field. Unlike the terms field, "q" is not automatically wildcarded, but can include wildcards and can specify field names. See the Elasticsearch query string page for documentation of supported syntax.
dfMutationID, Description, MutationTypeA comma-separated list of display fields (from the fields section below) which are intended for the user to see when looking at the results.
sfAll fieldsA comma-separated list of fields to be searched.
cfMutationIDA field to regard as the "code" for the returned item data.
efA comma-separated list of additional fields to be returned for each retrieved list item. (See the Output format section for how the data for fields is returned.) If you wish the keys in the returned data hash to be something other than the field names, you can specify an alias for the field name by separating it from its field name with a colon, e.g., "ef=field_name1:alias1,field2,field_name3:alias3,etc. Note that not every field specified in the ef parameter needs to have an alias.

COSMIC Field Descriptions

FieldField Description (Description text taken from the COSMIC website.)
BreakPointOrderFor variants involving multiple breakpoints, the predicted order along chromosome(s).Otherwise '0'.
ChromFromThe chromosome where the first variant/breakpoint occurs.
ChromToThe chromosome where the last variant/breakpoint occurs.
DescriptionA description of the change that occurred.
ID_STUDYLists the unique Ids of studies that have involved this structural mutation.
LocationFromMaxThe last position in breakpoint range.
LocationFromMinThe first position in breakpoint range.
LocationToMaxThe last position in breakpoint range.
LocationToMinThe first position in breakpoint range.
MutationIDUnique mutation identifier.
MutationTypeIntra/Inter (chromosomal), tandem duplication, deletion, inversion, complex substitutions, complex amplicons.
NonTemplatedInsSeqNon Templated Sequence (if any) which is inserted at the breakpoint. The sequence is not encoded.
PrimaryHistologyThe histological classification of the sample.
PrimarySiteThe primary tissue/cancer from which the sample originated.
SitePrimarySite and PrimaryHistology.
StrandFrompositive or negative.
StrandTopositive or negative.

Output format

Output for an API query is an array of the following elements:

  1. The total number of results on the server (which can be more than the number returned). For APIs in which there are millions of records, this number might be a lower bound due to early termination if there are more than a hundred thousand results.
  2. An array of codes for the returned items. (This is the field specified with the cf query parameter above.)
  3. A hash of the "extra" data requested via the "ef" query parameter above. The keys on the hash are the fields (or their requested aliases) named in the "ef" parameter, and the value for a field is an array of that field's values in the same order as the returned codes.
  4. An array, with one element for each returned code, where each element is an array of the display strings specified with the "df" query parameter.
  5. An array, with one element for each returned code, where each element is the "code system" for the returned code. Note that only code-system aware APIs will return this array.

Sample API Queries

QueryResultDescription
https://clinicaltables.nlm.nih.gov/api/cosmic_struct/v3/search?terms=16457 [12,["16457","164576","164578","164574","164575","164577","164570"],null,[["16457","chr19:g.12475768_14154446dup","intrachromosomal tandem duplication"],["164576","chrX:g.(80880718_80880738)_(80881080_80881100)del","intrachromosomal deletion"],["164578","chrX:g.(49637676_49637696)_(49638184_49638204)inv","intrachromosomal inversion"],["164574","chr7:g.(19266662_19266682)_(19270752_19270772)del","intrachromosomal deletion"],["164575","chr22:g.(35538021_35538041)_(35538288_35538308)del","intrachromosomal deletion"],["164577","chr21:g.(34533877_34533897)_(39182253_39182273)inv","intrachromosomal inversion"],["164570","chr3:g.(178636392_178636412)_(178637611_178637631)del","intrachromosomal deletion"]]] Finds Mutation Ids containing "16457" from the COSMIC Structural Genomic Rearrangements data set. Seven of twelve mutation ids are returned as code fields, no extra data was requested ("ef" was not specified in the URL), and finally the three (default) display fields for each record are returned.