Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI698/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1515", "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": 0.0004176, "gnomad_AFR_maf": 0.0002461, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0001087, "gnomad_FIN_maf": 4.619e-05, "gnomad_NFE_maf": 0.0008264, "gnomad_OTH_maf": 0.0004891, "gnomad_SAS_maf": 3.266e-05, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.001047 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.643779, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 156670351, "genomic_position_hg38": 156700559, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.629282", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.349G>A", "protein_change": "p.Asp117Asn", "transcript_id": "NM_001199723.1", "dbsnp_id": "rs146571038", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI698" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1515/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1515/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1515/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1515/gene/?format=api" }, "data": { "type": "Gene", "id": "CRABP2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1515/?format=api" } }, { "type": "SmallVariant", "id": "1516", "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": 0.001246, "gnomad_AFR_maf": 0.0001846, "gnomad_AMR_maf": 0.000463, "gnomad_ASJ_maf": 9.927e-05, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.001988, "gnomad_NFE_maf": 0.002069, "gnomad_OTH_maf": 0.002287, "gnomad_SAS_maf": 3.266e-05, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.002674 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": -0.010033, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 17088067, "genomic_position_hg38": 17046068, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.635321", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.3356T>C", "protein_change": "p.Leu1119Ser", "transcript_id": "NM_001081.3", "dbsnp_id": "rs141164907", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI698" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1516/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1516/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1516/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1516/gene/?format=api" }, "data": { "type": "Gene", "id": "CUBN" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1516/?format=api" } }, { "type": "SmallVariant", "id": "1517", "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": 2.41e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.895e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 4.473e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.888686, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 46785380, "genomic_position_hg38": 46389483, "chromosome": "22", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.641490", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.6362G>A", "protein_change": "p.Arg2121His", "transcript_id": "NM_014246.1", "dbsnp_id": "rs765148329", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI698" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1517/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1517/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1517/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1517/gene/?format=api" }, "data": { "type": "Gene", "id": "CELSR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1517/?format=api" } }, { "type": "SmallVariant", "id": "1518", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0014, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.001, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0061, "gnomad_maf": 0.001878, "gnomad_AFR_maf": 0.0003841, "gnomad_AMR_maf": 0.0002074, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0002211, "gnomad_FIN_maf": 4.755e-05, "gnomad_NFE_maf": 0.001273, "gnomad_OTH_maf": 0.003948, "gnomad_SAS_maf": 0.009291, "ESP_AA_maf": 0.0004541, "ESP_EA_maf": 0.001163 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.661143, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 41754013, "genomic_position_hg38": 41786275, "chromosome": "6", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:49.647377", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.730C>G", "protein_change": "p.Arg244Gly", "transcript_id": "NM_013397.6", "dbsnp_id": "rs141478229", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI698" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1518/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1518/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1518/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1518/gene/?format=api" }, "data": { "type": "Gene", "id": "PRICKLE4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1518/?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": 4 } }