Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI333/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "638", "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": 1.193e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 4.619e-05, "gnomad_NFE_maf": 1.758e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.0021, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 33039600, "genomic_position_hg38": 31667287, "chromosome": "21", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.253400", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Ala90Val", "transcript_id": null, "dbsnp_id": "rs1280042397", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 8 }, "data": [ { "type": "Combination", "id": "OLI328" }, { "type": "Combination", "id": "OLI329" }, { "type": "Combination", "id": "OLI330" }, { "type": "Combination", "id": "OLI331" }, { "type": "Combination", "id": "OLI332" }, { "type": "Combination", "id": "OLI333" }, { "type": "Combination", "id": "OLI334" }, { "type": "Combination", "id": "OLI335" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/638/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/638/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/638/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/638/gene/?format=api" }, "data": { "type": "Gene", "id": "SOD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/638/?format=api" } }, { "type": "SmallVariant", "id": "681", "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": 0.000175, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.891e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0001848, "gnomad_NFE_maf": 0.000334, "gnomad_OTH_maf": 0.0001629, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0001163 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.309529, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 21161955, "genomic_position_hg38": 20693796, "chromosome": "14", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.539826", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.232A>G", "protein_change": "p.Lys78Glu", "transcript_id": "NM_001097577.2", "dbsnp_id": "rs141055235", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI333" }, { "type": "Combination", "id": "OLI773" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/681/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/681/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/681/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/681/gene/?format=api" }, "data": { "type": "Gene", "id": "ANG" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/681/?format=api" } }, { "type": "SmallVariant", "id": "682", "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": 3.977e-06, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 4.621e-05, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 4.859363, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 36869857, "genomic_position_hg38": 38241455, "chromosome": "20", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.546259", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.676C>T", "protein_change": "p.Gln226Ter", "transcript_id": "NM_001029864.1", "dbsnp_id": "rs766143998", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI333" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/682/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/682/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/682/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/682/gene/?format=api" }, "data": { "type": "Gene", "id": "KIAA1755" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/682/?format=api" } }, { "type": "SmallVariant", "id": "683", "attributes": { "frequencies": { "KGP_genomes_maf": 0.003, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0043, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.003, "KGP_genomes_SAS_maf": 0.0092, "gnomad_maf": 0.003945, "gnomad_AFR_maf": 0.0009229, "gnomad_AMR_maf": 0.0007518, "gnomad_ASJ_maf": 0.0006947, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.003465, "gnomad_NFE_maf": 0.005706, "gnomad_OTH_maf": 0.004237, "gnomad_SAS_maf": 0.006337, "ESP_AA_maf": 0.0009079, "ESP_EA_maf": 0.005814 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.21637, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 151860230, "genomic_position_hg38": 152163145, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.552913", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.10432C>G", "protein_change": "p.Gln3478Glu", "transcript_id": "NM_170606.2", "dbsnp_id": "rs142835638", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI333" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/683/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/683/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/683/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/683/gene/?format=api" }, "data": { "type": "Gene", "id": "KMT2C" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/683/?format=api" } }, { "type": "SmallVariant", "id": "684", "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": 3.073e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0005945, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.073631, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 123167263, "genomic_position_hg38": 123448416, "chromosome": "3", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.559410", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.130C>A", "protein_change": "p.His44Asn", "transcript_id": "NM_183357.2", "dbsnp_id": "rs189868197", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI333" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/684/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/684/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/684/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/684/gene/?format=api" }, "data": { "type": "Gene", "id": "ADCY5" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/684/?format=api" } }, { "type": "SmallVariant", "id": "685", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.000342, "gnomad_AFR_maf": 6.152e-05, "gnomad_AMR_maf": 0.0003182, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 4.62e-05, "gnomad_NFE_maf": 0.0006417, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0002326 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.54105, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 62288508, "genomic_position_hg38": 62521036, "chromosome": "11", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.565882", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.13381A>G", "protein_change": "p.Met4461Val", "transcript_id": "NM_001346445.1", "dbsnp_id": "rs114666146", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI333" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/685/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/685/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/685/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/685/gene/?format=api" }, "data": { "type": "Gene", "id": "AHNAK" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/685/?format=api" } }, { "type": "SmallVariant", "id": "686", "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": 0.001086, "gnomad_AFR_maf": 0.0003691, "gnomad_AMR_maf": 0.0004048, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.000924, "gnomad_NFE_maf": 0.002014, "gnomad_OTH_maf": 0.0006515, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0004541, "ESP_EA_maf": 0.002791 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 2.994436, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 62285541, "genomic_position_hg38": 62518069, "chromosome": "11", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.572249", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.16348C>T", "protein_change": "p.Pro5450Ser", "transcript_id": "NM_001346445.1", "dbsnp_id": "rs139375615", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI333" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/686/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/686/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/686/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/686/gene/?format=api" }, "data": { "type": "Gene", "id": "AHNAK" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/686/?format=api" } }, { "type": "SmallVariant", "id": "687", "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": 1.095e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 6.251e-05, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.000222, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.309004, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 77270200, "genomic_position_hg38": 78014703, "chromosome": "X", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.578628", "ref_allele": "A", "alt_allele": "C", "cdna_change": "c.2448A>C", "protein_change": "p.Gln816His", "transcript_id": "NM_000052.6", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI333" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/687/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/687/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/687/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/687/gene/?format=api" }, "data": { "type": "Gene", "id": "ATP7A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/687/?format=api" } }, { "type": "SmallVariant", "id": "688", "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": 0.0001022, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0001041, "gnomad_NFE_maf": 0.0002141, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.000244 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.721313, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 3084008, "genomic_position_hg38": 3084010, "chromosome": "18", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.584867", "ref_allele": "T", "alt_allele": "A", "cdna_change": "c.4357A>T", "protein_change": "p.Met1453Leu", "transcript_id": "NM_003803.3", "dbsnp_id": "rs181642354", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI333" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/688/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/688/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/688/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/688/gene/?format=api" }, "data": { "type": "Gene", "id": "MYOM1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/688/?format=api" } }, { "type": "SmallVariant", "id": "689", "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": 0.0001114, "gnomad_AFR_maf": 0.000123, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 9.243e-05, "gnomad_NFE_maf": 0.0002024, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.266e-05, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0003488 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.842593, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 167358840, "genomic_position_hg38": 167389603, "chromosome": "1", "annotation_flag": "manually_corrected", "lastmodified": "2023-06-06T16:57:44.591278", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.829C>T", "protein_change": "p.Arg277Cys", "transcript_id": "NM_002697.4", "dbsnp_id": "rs145849668", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI333" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/689/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/689/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/689/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/689/gene/?format=api" }, "data": { "type": "Gene", "id": "POU2F1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/689/?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": 10 } }