Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI087/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "176", "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": 3.579e-05, "gnomad_AFR_maf": 0.0005536, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0004539, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.668629, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 123664549, "genomic_position_hg38": 122743394, "chromosome": "4", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.556041", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Thr501Met", "transcript_id": null, "dbsnp_id": "rs138011813", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI087" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/176/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/176/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/176/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/176/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS12" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/176/?format=api" } }, { "type": "SmallVariant", "id": "177", "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": 1.193e-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": 2.638e-05, "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": "Benign", "cadd_prediction": 2.842934, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 123664621, "genomic_position_hg38": 122743466, "chromosome": "4", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.562203", "ref_allele": "G", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Arg525His", "transcript_id": null, "dbsnp_id": "rs776730549", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI087" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/177/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/177/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/177/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/177/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS12" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/177/?format=api" } }, { "type": "SmallVariant", "id": "178", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0108, "KGP_genomes_AFR_maf": 0.0393, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.002804, "gnomad_AFR_maf": 0.04011, "gnomad_AMR_maf": 0.001244, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 5.276e-05, "gnomad_OTH_maf": 0.0004889, "gnomad_SAS_maf": 3.266e-05, "ESP_AA_maf": 0.03768, "ESP_EA_maf": 0.0001163 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.686827, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 10386146, "genomic_position_hg38": 10405498, "chromosome": "20", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.568484", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Ala488Thr", "transcript_id": null, "dbsnp_id": "rs61734546", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI087" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/178/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/178/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/178/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/178/gene/?format=api" }, "data": { "type": "Gene", "id": "MKKS" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/178/?format=api" } }, { "type": "SmallVariant", "id": "179", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0104, "KGP_genomes_AFR_maf": 0.0386, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.002526, "gnomad_AFR_maf": 0.03383, "gnomad_AMR_maf": 0.001911, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 4.409e-05, "gnomad_OTH_maf": 0.001796, "gnomad_SAS_maf": 9.808e-05, "ESP_AA_maf": 0.02951, "ESP_EA_maf": 0.0002326 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.267184, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 33397560, "genomic_position_hg38": 33357948, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.574771", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Thr549Ile", "transcript_id": null, "dbsnp_id": "rs59252892", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI087" }, { "type": "Combination", "id": "OLI1131" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/179/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/179/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/179/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/179/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS9" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/179/?format=api" } }, { "type": "SmallVariant", "id": "180", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0048, "KGP_genomes_AFR_maf": 0.0174, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0009426, "gnomad_AFR_maf": 0.012, "gnomad_AMR_maf": 0.0009252, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 4.396e-05, "gnomad_OTH_maf": 0.0008159, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.009532, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.498243, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 33427634, "genomic_position_hg38": 33388022, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.580946", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Leu665Phe", "transcript_id": null, "dbsnp_id": "rs116262072", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI087" }, { "type": "Combination", "id": "OLI615" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/180/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/180/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/180/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/180/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS9" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/180/?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": 5 } }