Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1570/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "3311", "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": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.42426, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 66905916, "genomic_position_hg38": 67686074, "chromosome": "X", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.356333", "ref_allele": "T", "alt_allele": "A", "cdna_change": "c.1833T>A", "protein_change": "p.Asn611Lys", "transcript_id": "NM_000044", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1570" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3311/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3311/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3311/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3311/gene/?format=api" }, "data": { "type": "Gene", "id": "AR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3311/?format=api" } }, { "type": "SmallVariant", "id": "3312", "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": 5.582e-05, "gnomad_AFR_maf": 0.0007386, "gnomad_AMR_maf": 2.898e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.832e-06, "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": "Possibly Damaging", "cadd_prediction": 3.102095, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 117128198, "genomic_position_hg38": 116807035, "chromosome": "6", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.362290", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.670G>T", "protein_change": "p.Ala224Ser", "transcript_id": "NM_148963", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1570" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3312/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3312/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3312/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3312/gene/?format=api" }, "data": { "type": "Gene", "id": "GPRC6A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3312/?format=api" } }, { "type": "SmallVariant", "id": "3313", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0008, "KGP_genomes_AFR_maf": 0.0015, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.0003439, "gnomad_AFR_maf": 0.002894, "gnomad_AMR_maf": 0.0006664, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 9.724e-05, "gnomad_OTH_maf": 0.0004913, "gnomad_SAS_maf": 6.563e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.486228, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 94487193, "genomic_position_hg38": 91724911, "chromosome": "9", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.368428", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1583G>A", "protein_change": "p.Arg528Gln", "transcript_id": "NM_004560", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1570" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3313/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3313/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3313/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3313/gene/?format=api" }, "data": { "type": "Gene", "id": "ROR2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3313/?format=api" } }, { "type": "SmallVariant", "id": "3314", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0003, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0013, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0001659, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0002924, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0002226, "gnomad_OTH_maf": 0.0006757, "gnomad_SAS_maf": 5.253e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.816081, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 153578119, "genomic_position_hg38": 154349751, "chromosome": "X", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.374480", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.7450C>T", "protein_change": "p.Arg2484Cys", "transcript_id": "NM_001110556", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1570" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3314/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3314/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3314/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3314/gene/?format=api" }, "data": { "type": "Gene", "id": "FLNA" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3314/?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 } }