Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/OTUD4/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "3009", "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": 0.0001755, "gnomad_AFR_maf": 0.002277, "gnomad_AMR_maf": 5.802e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0003271, "gnomad_SAS_maf": 9.826e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.412771, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 146064547, "genomic_position_hg38": 145143395, "chromosome": "4", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.574547", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.1458G>T", "protein_change": "p.Lys486Asn", "transcript_id": "NM_001102653.1", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1429" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3009/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3009/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3009/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3009/gene/?format=api" }, "data": { "type": "Gene", "id": "OTUD4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3009/?format=api" } }, { "type": "SmallVariant", "id": "587", "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": 0.00037, "gnomad_AFR_maf": 6.152e-05, "gnomad_AMR_maf": 0.000347, "gnomad_ASJ_maf": 0.003869, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0002992, "gnomad_OTH_maf": 0.0008154, "gnomad_SAS_maf": 6.533e-05, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0002326 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.373902, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 146071731, "genomic_position_hg38": 145150579, "chromosome": "4", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:43.941297", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.998G>T", "protein_change": "p.Gly333Val", "transcript_id": "NM_001102653.1", "dbsnp_id": "rs148857745", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI302" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/587/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/587/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/587/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/587/gene/?format=api" }, "data": { "type": "Gene", "id": "OTUD4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/587/?format=api" } }, { "type": "SmallVariant", "id": "2925", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "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": 0.001, "gnomad_maf": 6.762e-05, "gnomad_AFR_maf": 0.0006768, "gnomad_AMR_maf": 8.673e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.796e-06, "gnomad_OTH_maf": 0.0001631, "gnomad_SAS_maf": 3.266e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.686771, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 146059043, "genomic_position_hg38": 145137891, "chromosome": "4", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.061361", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.2689C>T", "protein_change": "p.His897Tyr", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1393" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2925/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2925/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2925/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2925/gene/?format=api" }, "data": { "type": "Gene", "id": "OTUD4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2925/?format=api" } }, { "type": "SmallVariant", "id": "2975", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.001358, "gnomad_AFR_maf": 0.0001847, "gnomad_AMR_maf": 0.0005496, "gnomad_ASJ_maf": 0.0006946, "gnomad_EAS_maf": 5.44e-05, "gnomad_FIN_maf": 0.000416, "gnomad_NFE_maf": 0.00184, "gnomad_OTH_maf": 0.0009794, "gnomad_SAS_maf": 0.002844, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.898486, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 146080703, "genomic_position_hg38": 145159551, "chromosome": "4", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.365967", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.386C>G", "protein_change": "p.Ala129Gly", "transcript_id": "NM_001102653.1", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1414" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2975/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2975/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2975/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2975/gene/?format=api" }, "data": { "type": "Gene", "id": "OTUD4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2975/?format=api" } }, { "type": "SmallVariant", "id": "3010", "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": 0.001043, "gnomad_AFR_maf": 0.007041, "gnomad_AMR_maf": 0.0001474, "gnomad_ASJ_maf": 0.0003011, "gnomad_EAS_maf": 0.00135, "gnomad_FIN_maf": 0.0004382, "gnomad_NFE_maf": 0.0008787, "gnomad_OTH_maf": 0.001168, "gnomad_SAS_maf": 6.559e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.730263, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 146071820, "genomic_position_hg38": 145150668, "chromosome": "4", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.580581", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.909C>A", "protein_change": "p.Ser303Arg", "transcript_id": "NM_001102653.1", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1429" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3010/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3010/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3010/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3010/gene/?format=api" }, "data": { "type": "Gene", "id": "OTUD4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3010/?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 } }