Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI763/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1597", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0012, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.005, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.002414, "gnomad_AFR_maf": 0.0004944, "gnomad_AMR_maf": 0.0009948, "gnomad_ASJ_maf": 0.0006999, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.007226, "gnomad_NFE_maf": 0.003392, "gnomad_OTH_maf": 0.001486, "gnomad_SAS_maf": 0.0001652, "ESP_AA_maf": 0.001135, "ESP_EA_maf": 0.003023 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.016133, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 18080308, "genomic_position_hg38": 18222799, "chromosome": "8", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:50.141854", "ref_allele": "A", "alt_allele": "T", "cdna_change": "c.938A>T", "protein_change": "p.Asp313Val", "transcript_id": "NM_001160175.4", "dbsnp_id": "rs56172717", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI724" }, { "type": "Combination", "id": "OLI763" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1597/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1597/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1597/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1597/gene/?format=api" }, "data": { "type": "Gene", "id": "NAT1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1597/?format=api" } }, { "type": "SmallVariant", "id": "1691", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.002, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.001223, "gnomad_AFR_maf": 0.0004409, "gnomad_AMR_maf": 0.00106, "gnomad_ASJ_maf": 0.0004151, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 9.348e-05, "gnomad_NFE_maf": 0.002193, "gnomad_OTH_maf": 0.001344, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0004539, "ESP_EA_maf": 0.001745 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.03114, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 109815883, "genomic_position_hg38": 109273261, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.738432", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.8434C>T", "protein_change": "p.Arg2812Trp", "transcript_id": "NM_001408.2", "dbsnp_id": "rs149683589", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI763" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1691/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1691/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1691/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1691/gene/?format=api" }, "data": { "type": "Gene", "id": "CELSR2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1691/?format=api" } }, { "type": "SmallVariant", "id": "1692", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0008, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0031, "gnomad_maf": 0.002699, "gnomad_AFR_maf": 0.0004653, "gnomad_AMR_maf": 0.0007167, "gnomad_ASJ_maf": 0.003038, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.004871, "gnomad_NFE_maf": 0.003677, "gnomad_OTH_maf": 0.002505, "gnomad_SAS_maf": 0.002307, "ESP_AA_maf": 0.0008278, "ESP_EA_maf": 0.004664 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.063068, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 17913195, "genomic_position_hg38": 17873572, "chromosome": "7", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:50.744708", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.709C>T", "protein_change": "p.Pro237Ser", "transcript_id": "ENST00000428135.7", "dbsnp_id": "rs201830759", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI763" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1692/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1692/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1692/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1692/gene/?format=api" }, "data": { "type": "Gene", "id": "SNX13" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1692/?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 } }