Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI710/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1552", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 2.454e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0001006, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 4.554e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0001164 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.928894, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 46760121, "genomic_position_hg38": 46364224, "chromosome": "22", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.859559", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.8807C>T", "protein_change": "p.Pro2936Leu", "transcript_id": "NM_014246.1", "dbsnp_id": "rs201509338", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI710" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1552/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1552/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1552/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1552/gene/?format=api" }, "data": { "type": "Gene", "id": "CELSR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1552/?format=api" } }, { "type": "SmallVariant", "id": "1553", "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": 1.204e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.78e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.271e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.515575, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 183887917, "genomic_position_hg38": 184170129, "chromosome": "3", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.865944", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1622C>T", "protein_change": "p.Pro541Leu", "transcript_id": "NM_004423.3", "dbsnp_id": "rs1311053970", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI710" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1553/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1553/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1553/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1553/gene/?format=api" }, "data": { "type": "Gene", "id": "DVL3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1553/?format=api" } }, { "type": "SmallVariant", "id": "1554", "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": 0.000658, "gnomad_AFR_maf": 0.0002469, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.002426, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.001218, "gnomad_NFE_maf": 0.0009382, "gnomad_OTH_maf": 0.0004944, "gnomad_SAS_maf": 3.275e-05, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.001279 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.108889, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 51152961, "genomic_position_hg38": 51085264, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.872210", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.998G>A", "protein_change": "p.Arg333Gln", "transcript_id": "NM_001346441.1", "dbsnp_id": "rs147232176", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI710" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1554/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1554/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1554/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1554/gene/?format=api" }, "data": { "type": "Gene", "id": "COBL" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1554/?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) 2025 · 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 } }