Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI565/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1178", "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": 2.423e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0003284, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 4.40211, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 45404850, "genomic_position_hg38": 45112652, "chromosome": "15", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.610105", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.227C>T", "protein_change": "p.Pro76Leu", "transcript_id": "NM_014080.4", "dbsnp_id": "rs767705906", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI565" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1178/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1178/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1178/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1178/gene/?format=api" }, "data": { "type": "Gene", "id": "DUOX2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1178/?format=api" } }, { "type": "SmallVariant", "id": "1179", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.003, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0003423, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.004621, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.802e-06, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.047365, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 45398423, "genomic_position_hg38": 45106225, "chromosome": "15", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.616378", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.2048G>T", "protein_change": "p.Arg683Leu", "transcript_id": "NM_014080.4", "dbsnp_id": "rs8028305", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI565" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1179/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1179/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1179/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1179/gene/?format=api" }, "data": { "type": "Gene", "id": "DUOX2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1179/?format=api" } }, { "type": "SmallVariant", "id": "1180", "attributes": { "frequencies": { "KGP_genomes_maf": 0.001, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.005, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0005927, "gnomad_AFR_maf": 0.0003076, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.007502, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0004889, "gnomad_SAS_maf": 9.799e-05, "ESP_AA_maf": 0.0006824, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 4.08024, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 45388079, "genomic_position_hg38": 45095881, "chromosome": "15", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.622613", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.4027C>T", "protein_change": "p.Leu1343Phe", "transcript_id": "NM_014080.4", "dbsnp_id": "rs147945181", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI565" }, { "type": "Combination", "id": "OLI991" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1180/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1180/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1180/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1180/gene/?format=api" }, "data": { "type": "Gene", "id": "DUOX2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1180/?format=api" } }, { "type": "SmallVariant", "id": "1181", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "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": 0.0, "gnomad_maf": 0.0001777, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0008202, "gnomad_FIN_maf": 4.775e-05, "gnomad_NFE_maf": 0.0002501, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0002326 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.629473, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 133912567, "genomic_position_hg38": 132900322, "chromosome": "8", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.628705", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.3416C>T", "protein_change": "p.Ser1139Leu", "transcript_id": "NM_003235.4", "dbsnp_id": "rs201480815", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI565" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1181/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1181/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1181/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1181/gene/?format=api" }, "data": { "type": "Gene", "id": "TG" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1181/?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) 2026 · 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 } }