Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1165/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "2503", "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": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.628585, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 122648614, "genomic_position_hg38": 120889102, "chromosome": "10", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.636444", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.2146A>G", "protein_change": "p.Ile716Val", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1165" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2503/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2503/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2503/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2503/gene/?format=api" }, "data": { "type": "Gene", "id": "WDR11" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2503/?format=api" } }, { "type": "SmallVariant", "id": "381", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0012, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.005, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.002842, "gnomad_AFR_maf": 0.0005536, "gnomad_AMR_maf": 0.002343, "gnomad_ASJ_maf": 0.005858, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.001987, "gnomad_NFE_maf": 0.004183, "gnomad_OTH_maf": 0.002935, "gnomad_SAS_maf": 0.0009472, "ESP_AA_maf": 0.0006809, "ESP_EA_maf": 0.003488 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.003863, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 68619737, "genomic_position_hg38": 67754019, "chromosome": "4", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.755387", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.317A>G", "protein_change": "p.Gln106Arg", "transcript_id": "NM_000406.2", "dbsnp_id": "rs104893836", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 14 }, "data": [ { "type": "Combination", "id": "OLI195" }, { "type": "Combination", "id": "OLI199" }, { "type": "Combination", "id": "OLI1165" }, { "type": "Combination", "id": "OLI1239" }, { "type": "Combination", "id": "OLI1275" }, { "type": "Combination", "id": "OLI1277" }, { "type": "Combination", "id": "OLI1288" }, { "type": "Combination", "id": "OLI1296" }, { "type": "Combination", "id": "OLI1300" }, { "type": "Combination", "id": "OLI1377" }, { "type": "Combination", "id": "OLI1379" }, { "type": "Combination", "id": "OLI1385" }, { "type": "Combination", "id": "OLI1532" }, { "type": "Combination", "id": "OLI1604" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/381/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/381/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/381/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/381/gene/?format=api" }, "data": { "type": "Gene", "id": "GNRHR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/381/?format=api" } }, { "type": "SmallVariant", "id": "2504", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0665, "KGP_genomes_AFR_maf": 0.087, "KGP_genomes_AMR_maf": 0.0908, "KGP_genomes_EAS_maf": 0.0069, "KGP_genomes_EUR_maf": 0.0815, "KGP_genomes_SAS_maf": 0.0675, "gnomad_maf": 0.0755, "gnomad_AFR_maf": 0.1042, "gnomad_AMR_maf": 0.09342, "gnomad_ASJ_maf": 0.08395, "gnomad_EAS_maf": 0.005715, "gnomad_FIN_maf": 0.03251, "gnomad_NFE_maf": 0.0905, "gnomad_OTH_maf": 0.0798, "gnomad_SAS_maf": 0.05322, "ESP_AA_maf": 0.1058, "ESP_EA_maf": 0.09919 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 0.131336, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 68619601, "genomic_position_hg38": 67753883, "chromosome": "4", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.642475", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.453C>T", "protein_change": "p.Ser151=", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1165" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2504/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2504/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2504/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2504/gene/?format=api" }, "data": { "type": "Gene", "id": "GNRHR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2504/?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 } }