Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1563/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "3288", "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": 3.542196, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 94519685, "genomic_position_hg38": 91757403, "chromosome": "9", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.216753", "ref_allele": "A", "alt_allele": "T", "cdna_change": "c.332T>A", "protein_change": "p.Ile111Asn", "transcript_id": "NM_004560", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1563" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3288/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3288/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3288/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3288/gene/?format=api" }, "data": { "type": "Gene", "id": "ROR2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3288/?format=api" } }, { "type": "SmallVariant", "id": "3289", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0015, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 1.204e-05, "gnomad_AFR_maf": 0.0001292, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.845e-06, "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": 2.158716, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 56161239, "genomic_position_hg38": 56865412, "chromosome": "5", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.222685", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1108C>T", "protein_change": "p.Pro370Ser", "transcript_id": "NM_005921", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1563" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3289/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3289/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3289/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3289/gene/?format=api" }, "data": { "type": "Gene", "id": "MAP3K1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3289/?format=api" } }, { "type": "SmallVariant", "id": "3204", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0016, "KGP_genomes_AFR_maf": 0.0045, "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": 0.0005136, "gnomad_AFR_maf": 0.003384, "gnomad_AMR_maf": 0.0008394, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.000317, "gnomad_OTH_maf": 0.001472, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.727098, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 117121767, "genomic_position_hg38": 116800604, "chromosome": "6", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.706527", "ref_allele": "T", "alt_allele": "G", "cdna_change": "c.1528A>C", "protein_change": "p.Asn510His", "transcript_id": "NM_148963", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI1526" }, { "type": "Combination", "id": "OLI1558" }, { "type": "Combination", "id": "OLI1563" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3204/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3204/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3204/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3204/gene/?format=api" }, "data": { "type": "Gene", "id": "GPRC6A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3204/?format=api" } }, { "type": "SmallVariant", "id": "3290", "attributes": { "frequencies": { "KGP_genomes_maf": 0.001, "KGP_genomes_AFR_maf": 0.003, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.000342, "gnomad_AFR_maf": 0.0005536, "gnomad_AMR_maf": 0.0001735, "gnomad_ASJ_maf": 9.921e-05, "gnomad_EAS_maf": 0.0001087, "gnomad_FIN_maf": 0.0003698, "gnomad_NFE_maf": 0.0002549, "gnomad_OTH_maf": 0.0001629, "gnomad_SAS_maf": 0.0009799, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.457547, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 73115934, "genomic_position_hg38": 71356177, "chromosome": "10", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.228821", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.707C>T", "protein_change": "p.Thr236Met", "transcript_id": "NM_001174098", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1563" }, { "type": "Combination", "id": "OLI1573" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3290/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3290/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3290/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3290/gene/?format=api" }, "data": { "type": "Gene", "id": "SLC29A3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3290/?format=api" } }, { "type": "SmallVariant", "id": "3291", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0008, "KGP_genomes_AFR_maf": 0.003, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0002352, "gnomad_AFR_maf": 0.002339, "gnomad_AMR_maf": 0.0002895, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 7.051e-05, "gnomad_OTH_maf": 0.0004908, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.355766, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 5242286, "genomic_position_hg38": 5200323, "chromosome": "10", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.234737", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.227G>C", "protein_change": "p.Arg76Thr", "transcript_id": "NM_001818", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1563" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3291/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3291/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3291/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3291/gene/?format=api" }, "data": { "type": "Gene", "id": "AKR1C4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3291/?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": 5 } }