Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1295/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "2721", "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": 4.773e-05, "gnomad_AFR_maf": 6.153e-05, "gnomad_AMR_maf": 2.891e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.437e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 7.036e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.266e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.21089, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 5294613, "genomic_position_hg38": 5313967, "chromosome": "20", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.840996", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.403C>T", "protein_change": "p.Arg135Cys", "transcript_id": "NM_144773.4", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1295" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2721/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2721/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2721/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2721/gene/?format=api" }, "data": { "type": "Gene", "id": "PROKR2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2721/?format=api" } }, { "type": "SmallVariant", "id": "2722", "attributes": { "frequencies": { "KGP_genomes_maf": 0.002, "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": 0.0082, "gnomad_maf": 0.002168, "gnomad_AFR_maf": 0.0005541, "gnomad_AMR_maf": 0.0005783, "gnomad_ASJ_maf": 9.923e-05, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.001109, "gnomad_NFE_maf": 0.003501, "gnomad_OTH_maf": 0.001793, "gnomad_SAS_maf": 0.002678, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.771578, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 141694117, "genomic_position_hg38": 142314552, "chromosome": "5", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.846938", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.626G>A", "protein_change": "p.Cys209Tyr", "transcript_id": "NM_030964.5", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1295" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2722/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2722/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2722/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2722/gene/?format=api" }, "data": { "type": "Gene", "id": "SPRY4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2722/?format=api" } }, { "type": "SmallVariant", "id": "2663", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0082, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0187, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0229, "KGP_genomes_SAS_maf": 0.0041, "gnomad_maf": 0.01364, "gnomad_AFR_maf": 0.003015, "gnomad_AMR_maf": 0.007258, "gnomad_ASJ_maf": 0.01141, "gnomad_EAS_maf": 0.0001087, "gnomad_FIN_maf": 0.01031, "gnomad_NFE_maf": 0.0215, "gnomad_OTH_maf": 0.01354, "gnomad_SAS_maf": 0.008526, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.946036, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 83634712, "genomic_position_hg38": 84005396, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.486470", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1303G>A", "protein_change": "p.Val435Ile", "transcript_id": "NM_006080.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI1262" }, { "type": "Combination", "id": "OLI1295" }, { "type": "Combination", "id": "OLI1297" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2663/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2663/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2663/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2663/gene/?format=api" }, "data": { "type": "Gene", "id": "SEMA3A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2663/?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 } }