Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI499/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1058", "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": 5.546574, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 48756191, "genomic_position_hg38": 48463994, "chromosome": "15", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:46.868305", "ref_allele": "A", "alt_allele": "AT", "cdna_change": "c.4969dup", "protein_change": "p.Ile1657AsnfsTer30", "transcript_id": "NM_000138.5", "dbsnp_id": "NA", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI499" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1058/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1058/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1058/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1058/gene/?format=api" }, "data": { "type": "Gene", "id": "FBN1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1058/?format=api" } }, { "type": "SmallVariant", "id": "1059", "attributes": { "frequencies": { "KGP_genomes_maf": 0.02, "KGP_genomes_AFR_maf": 0.0151, "KGP_genomes_AMR_maf": 0.0159, "KGP_genomes_EAS_maf": 0.0238, "KGP_genomes_EUR_maf": 0.008, "KGP_genomes_SAS_maf": 0.0378, "gnomad_maf": 0.01909, "gnomad_AFR_maf": 0.0108, "gnomad_AMR_maf": 0.04246, "gnomad_ASJ_maf": 0.002019, "gnomad_EAS_maf": 0.01811, "gnomad_FIN_maf": 0.0009142, "gnomad_NFE_maf": 0.009807, "gnomad_OTH_maf": 0.01775, "gnomad_SAS_maf": 0.04917, "ESP_AA_maf": 0.01025, "ESP_EA_maf": 0.009711 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.584292, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 14842658, "genomic_position_hg38": 14842660, "chromosome": "9", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:46.874545", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.1394G>C", "protein_change": "p.Gly465Ala", "transcript_id": "NM_144966.7", "dbsnp_id": "rs41298151", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI499" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1059/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1059/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1059/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1059/gene/?format=api" }, "data": { "type": "Gene", "id": "FREM1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1059/?format=api" } }, { "type": "SmallVariant", "id": "1060", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0056, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0086, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0189, "KGP_genomes_SAS_maf": 0.0031, "gnomad_maf": 0.009206, "gnomad_AFR_maf": 0.003322, "gnomad_AMR_maf": 0.005753, "gnomad_ASJ_maf": 0.00129, "gnomad_EAS_maf": 5.437e-05, "gnomad_FIN_maf": 0.007345, "gnomad_NFE_maf": 0.01521, "gnomad_OTH_maf": 0.008958, "gnomad_SAS_maf": 0.003397, "ESP_AA_maf": 0.004312, "ESP_EA_maf": 0.01372 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.409679, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 220284876, "genomic_position_hg38": 219420154, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:46.880878", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.638C>T", "protein_change": "p.Ala213Val", "transcript_id": "NM_001927.3", "dbsnp_id": "rs41272699", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI499" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1060/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1060/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1060/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1060/gene/?format=api" }, "data": { "type": "Gene", "id": "DES" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1060/?format=api" } }, { "type": "SmallVariant", "id": "1061", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0132, "KGP_genomes_AFR_maf": 0.0023, "KGP_genomes_AMR_maf": 0.0187, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0368, "KGP_genomes_SAS_maf": 0.0133, "gnomad_maf": 0.02677, "gnomad_AFR_maf": 0.005475, "gnomad_AMR_maf": 0.01347, "gnomad_ASJ_maf": 0.02225, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.03811, "gnomad_NFE_maf": 0.0384, "gnomad_OTH_maf": 0.0274, "gnomad_SAS_maf": 0.0194, "ESP_AA_maf": 0.008171, "ESP_EA_maf": 0.03791 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.580286, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 223085955, "genomic_position_hg38": 222221236, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:46.887093", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.944C>A", "protein_change": "p.Thr315Lys", "transcript_id": "NM_181457.3", "dbsnp_id": "rs2234675", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI499" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1061/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1061/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1061/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1061/gene/?format=api" }, "data": { "type": "Gene", "id": "PAX3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1061/?format=api" } }, { "type": "SmallVariant", "id": "1062", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0034, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0058, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0119, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.007891, "gnomad_AFR_maf": 0.001873, "gnomad_AMR_maf": 0.001537, "gnomad_ASJ_maf": 0.007959, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.01954, "gnomad_NFE_maf": 0.01132, "gnomad_OTH_maf": 0.009453, "gnomad_SAS_maf": 0.001602, "ESP_AA_maf": 0.001073, "ESP_EA_maf": 0.01246 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.76189, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 116411990, "genomic_position_hg38": 116771936, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:46.893364", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.2975C>T", "protein_change": "p.Thr992Ile", "transcript_id": "NM_000245.3", "dbsnp_id": "rs56391007", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI499" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1062/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1062/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1062/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1062/gene/?format=api" }, "data": { "type": "Gene", "id": "MET" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1062/?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 } }