Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/OCA2/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "140", "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": "Benign", "cadd_prediction": 1.400359, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 28000554, "genomic_position_hg38": 27755408, "chromosome": "15", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.347663", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.2497G>T", "protein_change": "p.Val833Leu", "transcript_id": "NM_000275.2", "dbsnp_id": "rs200396611", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI071" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/140/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/140/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/140/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/140/gene/?format=api" }, "data": { "type": "Gene", "id": "OCA2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/140/?format=api" } }, { "type": "SmallVariant", "id": "144", "attributes": { "frequencies": { "KGP_genomes_maf": 0.008, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0043, "KGP_genomes_EAS_maf": 0.0268, "KGP_genomes_EUR_maf": 0.0099, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.008382, "gnomad_AFR_maf": 0.000123, "gnomad_AMR_maf": 0.002168, "gnomad_ASJ_maf": 0.01667, "gnomad_EAS_maf": 0.02457, "gnomad_FIN_maf": 0.04772, "gnomad_NFE_maf": 0.002681, "gnomad_OTH_maf": 0.007329, "gnomad_SAS_maf": 0.0009146, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.001977 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.358203, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 28228553, "genomic_position_hg38": 27983407, "chromosome": "15", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.371830", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1441G>A", "protein_change": "p.Ala481Thr", "transcript_id": "NM_000275.2", "dbsnp_id": "rs74653330", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI073" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/144/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/144/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/144/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/144/gene/?format=api" }, "data": { "type": "Gene", "id": "OCA2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/144/?format=api" } }, { "type": "SmallVariant", "id": "423", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0008, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.004, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.003047, "gnomad_AFR_maf": 0.001675, "gnomad_AMR_maf": 0.002026, "gnomad_ASJ_maf": 0.003687, "gnomad_EAS_maf": 0.0003811, "gnomad_FIN_maf": 0.0007889, "gnomad_NFE_maf": 0.005128, "gnomad_OTH_maf": 0.003601, "gnomad_SAS_maf": 0.0001307, "ESP_AA_maf": 0.00227, "ESP_EA_maf": 0.006279 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.931838, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 28230247, "genomic_position_hg38": 27985101, "chromosome": "15", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:43.009883", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1327G>A", "protein_change": "p.Val443Ile", "transcript_id": "NM_000275.2", "dbsnp_id": "rs121918166", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI217" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/423/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/423/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/423/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/423/gene/?format=api" }, "data": { "type": "Gene", "id": "OCA2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/423/?format=api" } }, { "type": "SmallVariant", "id": "429", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0028, "KGP_genomes_AFR_maf": 0.0098, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.001369, "gnomad_AFR_maf": 0.01416, "gnomad_AMR_maf": 0.0006123, "gnomad_ASJ_maf": 0.00832, "gnomad_EAS_maf": 5.524e-05, "gnomad_FIN_maf": 4.71e-05, "gnomad_NFE_maf": 0.0001201, "gnomad_OTH_maf": 0.00135, "gnomad_SAS_maf": 3.281e-05, "ESP_AA_maf": 0.01591, "ESP_EA_maf": 0.0003495 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": -0.729704, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 28326942, "genomic_position_hg38": 28081796, "chromosome": "15", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:43.041803", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.79G>A", "protein_change": "p.Gly27Arg", "transcript_id": "NM_000275.2", "dbsnp_id": "rs61738394", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI220" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/429/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/429/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/429/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/429/gene/?format=api" }, "data": { "type": "Gene", "id": "OCA2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/429/?format=api" } }, { "type": "SmallVariant", "id": "2385", "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": 2.386e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.000196, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.243084, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 28228538, "genomic_position_hg38": 27983392, "chromosome": "15", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.945741", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.1456G>T", "protein_change": "p.Asp486Tyr", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI1095" }, { "type": "Combination", "id": "OLI1096" }, { "type": "Combination", "id": "OLI1097" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2385/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2385/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2385/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2385/gene/?format=api" }, "data": { "type": "Gene", "id": "OCA2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2385/?format=api" } }, { "type": "SmallVariant", "id": "2387", "attributes": { "frequencies": { "KGP_genomes_maf": 0.001, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0051, "gnomad_maf": 0.0004776, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0001631, "gnomad_SAS_maf": 0.003887, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.237631, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 28260012, "genomic_position_hg38": 28014866, "chromosome": "15", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.958197", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.954G>A", "protein_change": "p.Met318Ile", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1098" }, { "type": "Combination", "id": "OLI1099" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2387/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2387/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2387/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2387/gene/?format=api" }, "data": { "type": "Gene", "id": "OCA2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2387/?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": 6 } }