Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI570/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1191", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0018, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.008, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.006227, "gnomad_AFR_maf": 0.0004922, "gnomad_AMR_maf": 0.002052, "gnomad_ASJ_maf": 0.007045, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.03061, "gnomad_NFE_maf": 0.006017, "gnomad_OTH_maf": 0.008963, "gnomad_SAS_maf": 0.0007512, "ESP_AA_maf": 0.0009079, "ESP_EA_maf": 0.004884 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.057731, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 238280504, "genomic_position_hg38": 237371861, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.687864", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.4156G>A", "protein_change": "p.Glu1386Lys", "transcript_id": "NM_004369.3", "dbsnp_id": "rs146092501", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI570" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1191/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1191/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1191/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1191/gene/?format=api" }, "data": { "type": "Gene", "id": "COL6A3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1191/?format=api" } }, { "type": "SmallVariant", "id": "1192", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.003, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0008218, "gnomad_AFR_maf": 6.319e-05, "gnomad_AMR_maf": 0.00048, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.003268, "gnomad_NFE_maf": 0.001033, "gnomad_OTH_maf": 0.0005141, "gnomad_SAS_maf": 3.438e-05, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0009302 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.889265, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 238253403, "genomic_position_hg38": 237344760, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.693729", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.7258C>T", "protein_change": "p.Arg2420Trp", "transcript_id": "NM_004369.3", "dbsnp_id": "rs150165484", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI570" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1192/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1192/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1192/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1192/gene/?format=api" }, "data": { "type": "Gene", "id": "COL6A3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1192/?format=api" } }, { "type": "SmallVariant", "id": "1193", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": null, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": null, "genomic_position_hg38": null, "chromosome": "1", "annotation_flag": "ambiguous_variant", "lastmodified": "2021-10-18T11:01:05.495931", "ref_allele": null, "alt_allele": null, "cdna_change": "c.1046C>G", "protein_change": "p.Thr349Ile", "transcript_id": "NM_000069.3", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI570" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1193/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1193/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1193/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1193/gene/?format=api" }, "data": { "type": "Gene", "id": "CACNA1S" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1193/?format=api" } } ], "meta": { "database_name": "OLIgogenic diseases DAtabase (OLIDA)", "resource_url": "olida.ibsquare.be", "api_release_year": "2021", "api_developer": [ [ "Arnau Dillen", "arnau.dillen@ulb.ac.be" ], [ "Charlotte Nachtegael", "charlotte.nachtegael@ulb.be" ] ], "api_version": "0.3", "api_maintainers": [ [ "Charlotte Nachtegael", "charlotte.nachtegael@ulb.be" ] ], "api_documentation": [ "olida.ibsquare.be/api/swagger", "olida.ibsquare.be/api/redoc" ], "copyright": "Copyright (c) 2024 · OLIDA All Rights Reserved.", "license": "CC Attribution-NonCommercial 4.0 International License", "ontologies": { "ORDO": "http://bioportal.bioontology.org/ontologies/ORDO", "GENO": "http://purl.obolibrary.org/obo/geno.owl", "MI": "http://purl.obolibrary.org/obo/mi.owl", "NCIT": "http://purl.obolibrary.org/obo/ncit.owl", "OGI": "http://purl.obolibrary.org/obo/ogi.owl", "OGG": "http://purl.obolibrary.org/obo/ogg.owl" }, "relevant_publications_doi": [ "10.1093/nar/gkv1068", "10.1093/database/baac023" ], "Variant serializers": [ "SmallVariantSerializer", "CopyNumberVariantSerializer" ], "size": 3 } }