Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/COBL/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1554", "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": 0.000658, "gnomad_AFR_maf": 0.0002469, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.002426, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.001218, "gnomad_NFE_maf": 0.0009382, "gnomad_OTH_maf": 0.0004944, "gnomad_SAS_maf": 3.275e-05, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.001279 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.108889, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 51152961, "genomic_position_hg38": 51085264, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.872210", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.998G>A", "protein_change": "p.Arg333Gln", "transcript_id": "NM_001346441.1", "dbsnp_id": "rs147232176", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI710" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1554/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1554/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1554/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1554/gene/?format=api" }, "data": { "type": "Gene", "id": "COBL" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1554/?format=api" } }, { "type": "SmallVariant", "id": "1604", "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": 3.281e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 4.756e-05, "gnomad_NFE_maf": 3.629e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0001046, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0001163 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.471636, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 51095669, "genomic_position_hg38": 51027972, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.185722", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.3124C>T", "protein_change": "p.Arg1042Cys", "transcript_id": "NM_001346443.1", "dbsnp_id": "rs370348190", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI726" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1604/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1604/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1604/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1604/gene/?format=api" }, "data": { "type": "Gene", "id": "COBL" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1604/?format=api" } }, { "type": "SmallVariant", "id": "1659", "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": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.890494, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 51111119, "genomic_position_hg38": 51043422, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.537275", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1538C>T", "protein_change": "p.Ser513Phe", "transcript_id": "NM_001346443.1", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI750" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1659/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1659/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1659/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1659/gene/?format=api" }, "data": { "type": "Gene", "id": "COBL" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1659/?format=api" } }, { "type": "SmallVariant", "id": "1674", "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": 2.001e-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": 1.783e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 9.799e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 2.119303, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 51111287, "genomic_position_hg38": 51043590, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.631464", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1199C>T", "protein_change": "p.Ser400Leu", "transcript_id": "NM_001346443.1", "dbsnp_id": "rs748979327", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI756" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1674/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1674/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1674/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1674/gene/?format=api" }, "data": { "type": "Gene", "id": "COBL" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1674/?format=api" } }, { "type": "SmallVariant", "id": "1681", "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": 5.976e-05, "gnomad_AFR_maf": 0.000123, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0001146, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.000227, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 0.83275, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 51095783, "genomic_position_hg38": 51028086, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.675529", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.3010C>G", "protein_change": "p.Gln1004Glu", "transcript_id": "NM_001346443.1", "dbsnp_id": "rs373944191", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI758" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1681/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1681/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1681/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1681/gene/?format=api" }, "data": { "type": "Gene", "id": "COBL" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1681/?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 } }