Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI856/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1863", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0008, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0039, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0008671, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 7.292e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.01111, "gnomad_FIN_maf": 6.246e-05, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0001048, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.028984, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 8503796, "genomic_position_hg38": 8535755, "chromosome": "X", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:51.774891", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1678G>A", "protein_change": "p.Val560Ile", "transcript_id": "NM_000216.3", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI852" }, { "type": "Combination", "id": "OLI856" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1863/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1863/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1863/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1863/gene/?format=api" }, "data": { "type": "Gene", "id": "ANOS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1863/?format=api" } }, { "type": "SmallVariant", "id": "1874", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.002, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0004144, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.005676, "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": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.812013, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 206607968, "genomic_position_hg38": 205743244, "chromosome": "2", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:51.833300", "ref_allele": "A", "alt_allele": "C", "cdna_change": "c.1333A>C", "protein_change": "p.Ile445Leu", "transcript_id": "NM_201266.1", "dbsnp_id": "rs201900948", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 4 }, "data": [ { "type": "Combination", "id": "OLI856" }, { "type": "Combination", "id": "OLI869" }, { "type": "Combination", "id": "OLI893" }, { "type": "Combination", "id": "OLI901" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1874/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1874/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1874/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1874/gene/?format=api" }, "data": { "type": "Gene", "id": "NRP2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1874/?format=api" } }, { "type": "SmallVariant", "id": "1875", "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": 0.0002819, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.954e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.003005, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0001208, "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": 3.562734, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 91996164, "genomic_position_hg38": 89381249, "chromosome": "9", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:51.839869", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1544C>T", "protein_change": "p.Ala515Val", "transcript_id": "NM_006378.3", "dbsnp_id": "rs75298730", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI856" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1875/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1875/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1875/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1875/gene/?format=api" }, "data": { "type": "Gene", "id": "SEMA4D" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1875/?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 } }