Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1330/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "2795", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0034, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0139, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0031, "gnomad_maf": 0.00132, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.01621, "gnomad_FIN_maf": 9.587e-05, "gnomad_NFE_maf": 3.641e-05, "gnomad_OTH_maf": 0.0008415, "gnomad_SAS_maf": 0.0006372, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 1.961774, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 137540425, "genomic_position_hg38": 137219288, "chromosome": "6", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.289554", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.40G>A", "protein_change": null, "transcript_id": "NM_000416.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1330" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2795/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2795/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2795/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2795/gene/?format=api" }, "data": { "type": "Gene", "id": "IFNGR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2795/?format=api" } }, { "type": "SmallVariant", "id": "2796", "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": 0.006, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.003197, "gnomad_AFR_maf": 0.0001873, "gnomad_AMR_maf": 0.0005783, "gnomad_ASJ_maf": 0.0007946, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.01737, "gnomad_NFE_maf": 0.003297, "gnomad_OTH_maf": 0.003441, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": -0.235467, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 67635211, "genomic_position_hg38": 67169528, "chromosome": "1", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.295764", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.257G>A", "protein_change": null, "transcript_id": "NM_144701.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1330" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2796/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2796/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2796/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2796/gene/?format=api" }, "data": { "type": "Gene", "id": "IL23R" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2796/?format=api" } }, { "type": "SmallVariant", "id": "2797", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0022, "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": 0.0102, "gnomad_maf": 0.001837, "gnomad_AFR_maf": 0.0002583, "gnomad_AMR_maf": 0.0005793, "gnomad_ASJ_maf": 0.001987, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 4.638e-05, "gnomad_NFE_maf": 0.001255, "gnomad_OTH_maf": 0.001155, "gnomad_SAS_maf": 0.008627, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 0.301327, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 65339122, "genomic_position_hg38": 64873439, "chromosome": "1", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.301878", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.414C>T", "protein_change": null, "transcript_id": "NM_002227.4", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1330" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2797/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2797/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2797/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2797/gene/?format=api" }, "data": { "type": "Gene", "id": "JAK1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2797/?format=api" } }, { "type": "SmallVariant", "id": "2798", "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": null, "pp2_hvar_prediction": null, "cadd_prediction": 2.03009, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 48227102, "genomic_position_hg38": 50149737, "chromosome": "17", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.307909", "ref_allele": "GGGCGGCGGC", "alt_allele": "G", "cdna_change": "c.759_767del", "protein_change": null, "transcript_id": "NM_032595.5", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1330" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2798/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2798/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2798/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2798/gene/?format=api" }, "data": { "type": "Gene", "id": "PPP1R9B" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2798/?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 } }