Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/CELSR3/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1528", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0036, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0144, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.006, "KGP_genomes_SAS_maf": 0.002, "gnomad_maf": 0.008122, "gnomad_AFR_maf": 0.0009281, "gnomad_AMR_maf": 0.00642, "gnomad_ASJ_maf": 0.04775, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.003604, "gnomad_NFE_maf": 0.008563, "gnomad_OTH_maf": 0.01507, "gnomad_SAS_maf": 0.005946, "ESP_AA_maf": 0.001362, "ESP_EA_maf": 0.008721 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.684674, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 48677191, "genomic_position_hg38": 48639758, "chromosome": "3", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.708860", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.9827C>T", "protein_change": "p.Pro3276Leu", "transcript_id": "NM_001407.2", "dbsnp_id": "rs61729242", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI701" }, { "type": "Combination", "id": "OLI737" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1528/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1528/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1528/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1528/gene/?format=api" }, "data": { "type": "Gene", "id": "CELSR3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1528/?format=api" } }, { "type": "SmallVariant", "id": "1566", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0032, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0143, "gnomad_maf": 0.003934, "gnomad_AFR_maf": 0.0001248, "gnomad_AMR_maf": 0.001891, "gnomad_ASJ_maf": 0.009996, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0001405, "gnomad_NFE_maf": 0.001711, "gnomad_OTH_maf": 0.003976, "gnomad_SAS_maf": 0.01945, "ESP_AA_maf": 0.0002271, "ESP_EA_maf": 0.001279 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 4.105618, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 48682550, "genomic_position_hg38": 48645117, "chromosome": "3", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.947444", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.7890G>A", "protein_change": "p.Met2630Ile", "transcript_id": "NM_001407.2", "dbsnp_id": "rs149614835", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI714" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1566/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1566/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1566/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1566/gene/?format=api" }, "data": { "type": "Gene", "id": "CELSR3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1566/?format=api" } }, { "type": "SmallVariant", "id": "1611", "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": 2.950162, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 48680471, "genomic_position_hg38": 48643038, "chromosome": "3", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.229453", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.8335C>G", "protein_change": "p.Arg2779Gly", "transcript_id": "NM_001407.2", "dbsnp_id": "rs765692240", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI729" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1611/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1611/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1611/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1611/gene/?format=api" }, "data": { "type": "Gene", "id": "CELSR3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1611/?format=api" } }, { "type": "SmallVariant", "id": "1612", "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": 0.0001437, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.892e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.442e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0002919, "gnomad_OTH_maf": 0.0001635, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0002326 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 4.225987, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 48690482, "genomic_position_hg38": 48653049, "chromosome": "3", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.235554", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.5587C>T", "protein_change": "p.Arg1863Trp", "transcript_id": "NM_001407.2", "dbsnp_id": "rs142348413", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI729" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1612/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1612/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1612/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1612/gene/?format=api" }, "data": { "type": "Gene", "id": "CELSR3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1612/?format=api" } }, { "type": "SmallVariant", "id": "3115", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.001, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 4.795e-05, "gnomad_AFR_maf": 6.178e-05, "gnomad_AMR_maf": 0.0001446, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0001632, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 9.801e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.553871, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 48677152, "genomic_position_hg38": 48639719, "chromosome": "3", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.180802", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Arg3289His", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1478" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3115/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3115/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3115/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3115/gene/?format=api" }, "data": { "type": "Gene", "id": "CELSR3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3115/?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 } }