Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1567/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "3303", "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": 2.693891, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 122768632, "genomic_position_hg38": 121847477, "chromosome": "4", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.307984", "ref_allele": "TG", "alt_allele": "T", "cdna_change": "c.963delC", "protein_change": "p.Pro321fs", "transcript_id": "NM_176824", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1567" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3303/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3303/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3303/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3303/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3303/?format=api" } }, { "type": "SmallVariant", "id": "3157", "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": null, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 117113762, "genomic_position_hg38": 116792599, "chromosome": "6", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.425175", "ref_allele": "A", "alt_allele": "AA", "cdna_change": "c.2323dupT", "protein_change": "p.Tyr775fs", "transcript_id": "NM_148963", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI1508" }, { "type": "Combination", "id": "OLI1561" }, { "type": "Combination", "id": "OLI1567" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3157/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3157/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3157/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3157/gene/?format=api" }, "data": { "type": "Gene", "id": "GPRC6A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3157/?format=api" } }, { "type": "SmallVariant", "id": "2725", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0005925, "gnomad_AFR_maf": 0.001292, "gnomad_AMR_maf": 0.001417, "gnomad_ASJ_maf": 0.002083, "gnomad_EAS_maf": 0.0002175, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0003692, "gnomad_OTH_maf": 0.001954, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.012438, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 5294763, "genomic_position_hg38": 5314117, "chromosome": "20", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.865114", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.253C>T", "protein_change": "p.Arg85Cys", "transcript_id": "NM_144773.4", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 7 }, "data": [ { "type": "Combination", "id": "OLI1297" }, { "type": "Combination", "id": "OLI1525" }, { "type": "Combination", "id": "OLI1544" }, { "type": "Combination", "id": "OLI1547" }, { "type": "Combination", "id": "OLI1548" }, { "type": "Combination", "id": "OLI1558" }, { "type": "Combination", "id": "OLI1567" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2725/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2725/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2725/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2725/gene/?format=api" }, "data": { "type": "Gene", "id": "PROKR2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2725/?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 } }