Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/INVS/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "416", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0016, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.007, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.003986, "gnomad_AFR_maf": 0.0004336, "gnomad_AMR_maf": 0.0008391, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.02224, "gnomad_NFE_maf": 0.003922, "gnomad_OTH_maf": 0.003757, "gnomad_SAS_maf": 0.00049, "ESP_AA_maf": 0.0004539, "ESP_EA_maf": 0.002442 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": -0.038136, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 103046765, "genomic_position_hg38": 100284483, "chromosome": "9", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.964528", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.1948G>C", "protein_change": "p.Ala650Pro", "transcript_id": "NM_014425.4", "dbsnp_id": "rs147452898", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI214" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/416/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/416/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/416/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/416/gene/?format=api" }, "data": { "type": "Gene", "id": "INVS" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/416/?format=api" } }, { "type": "SmallVariant", "id": "1499", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0034, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0101, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0099, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.004665, "gnomad_AFR_maf": 0.0008612, "gnomad_AMR_maf": 0.003556, "gnomad_ASJ_maf": 0.0002976, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.01238, "gnomad_NFE_maf": 0.006357, "gnomad_OTH_maf": 0.005708, "gnomad_SAS_maf": 0.0002287, "ESP_AA_maf": 0.001362, "ESP_EA_maf": 0.006047 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 4.171235, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 103002451, "genomic_position_hg38": 100240169, "chromosome": "9", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.532809", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.725C>T", "protein_change": "p.Ser242Leu", "transcript_id": "NM_014425.4", "dbsnp_id": "rs2491097", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI691" }, { "type": "Combination", "id": "OLI736" }, { "type": "Combination", "id": "OLI761" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1499/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1499/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1499/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1499/gene/?format=api" }, "data": { "type": "Gene", "id": "INVS" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1499/?format=api" } }, { "type": "SmallVariant", "id": "1593", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0012, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.004, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.004808, "gnomad_AFR_maf": 0.001107, "gnomad_AMR_maf": 0.001792, "gnomad_ASJ_maf": 0.005655, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.01123, "gnomad_NFE_maf": 0.006964, "gnomad_OTH_maf": 0.004405, "gnomad_SAS_maf": 0.0003267, "ESP_AA_maf": 0.001135, "ESP_EA_maf": 0.007791 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.218558, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 103002466, "genomic_position_hg38": 100240184, "chromosome": "9", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.116922", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.740A>G", "protein_change": "p.Asn247Ser", "transcript_id": "NM_014425.4", "dbsnp_id": "rs41312220", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI723" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1593/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1593/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1593/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1593/gene/?format=api" }, "data": { "type": "Gene", "id": "INVS" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1593/?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": 3 } }