Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI758/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1677", "attributes": { "frequencies": { "KGP_genomes_maf": 0.002, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.008, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.006578, "gnomad_AFR_maf": 0.001476, "gnomad_AMR_maf": 0.0009541, "gnomad_ASJ_maf": 0.001786, "gnomad_EAS_maf": 0.0006525, "gnomad_FIN_maf": 0.009839, "gnomad_NFE_maf": 0.011, "gnomad_OTH_maf": 0.00636, "gnomad_SAS_maf": 0.00209, "ESP_AA_maf": 0.0009079, "ESP_EA_maf": 0.007558 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.591807, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 16911749, "genomic_position_hg38": 16869750, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.650420", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.9340G>A", "protein_change": "p.Gly3114Ser", "transcript_id": "NM_001081.3", "dbsnp_id": "rs117035284", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI758" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1677/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1677/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1677/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1677/gene/?format=api" }, "data": { "type": "Gene", "id": "CUBN" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1677/?format=api" } }, { "type": "SmallVariant", "id": "1678", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0014, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.002, "KGP_genomes_SAS_maf": 0.0031, "gnomad_maf": 0.002494, "gnomad_AFR_maf": 0.001383, "gnomad_AMR_maf": 0.0008924, "gnomad_ASJ_maf": 0.00237, "gnomad_EAS_maf": 0.0002659, "gnomad_FIN_maf": 0.005275, "gnomad_NFE_maf": 0.003202, "gnomad_OTH_maf": 0.002286, "gnomad_SAS_maf": 0.002108, "ESP_AA_maf": 0.0007496, "ESP_EA_maf": 0.003597 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.965707, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 46762301, "genomic_position_hg38": 46366404, "chromosome": "22", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.656783", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.8282C>T", "protein_change": "p.Ser2761Leu", "transcript_id": "NM_014246.1", "dbsnp_id": "rs144039991", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI758" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1678/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1678/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1678/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1678/gene/?format=api" }, "data": { "type": "Gene", "id": "CELSR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1678/?format=api" } }, { "type": "SmallVariant", "id": "1679", "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": 1.593e-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": 2.642e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.268e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.743671, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 22389381, "genomic_position_hg38": 22387758, "chromosome": "4", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.663055", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.3913G>A", "protein_change": "p.Asp1305Asn", "transcript_id": "NM_145290.3", "dbsnp_id": "rs928853508", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI758" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1679/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1679/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1679/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1679/gene/?format=api" }, "data": { "type": "Gene", "id": "ADGRA3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1679/?format=api" } }, { "type": "SmallVariant", "id": "1680", "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": 9.526e-05, "gnomad_AFR_maf": 0.000138, "gnomad_AMR_maf": 9.501e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 4.769e-05, "gnomad_NFE_maf": 0.0001523, "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": 2.997208, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 17885241, "genomic_position_hg38": 17845618, "chromosome": "7", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:50.669298", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.1142A>G", "protein_change": "p.Asn381Ser", "transcript_id": "NM_001350862.2", "dbsnp_id": "rs555475594", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI758" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1680/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1680/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1680/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1680/gene/?format=api" }, "data": { "type": "Gene", "id": "SNX13" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1680/?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" } }, { "type": "SmallVariant", "id": "1682", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0008, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.002, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0004463, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0001079, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.001211, "gnomad_NFE_maf": 0.0007285, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0001099, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0005928 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 2.956656, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 144875184, "genomic_position_hg38": 143793014, "chromosome": "8", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.681710", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.3979G>A", "protein_change": "p.Val1327Met", "transcript_id": "NM_015356.4", "dbsnp_id": "rs201563528", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI758" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1682/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1682/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1682/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1682/gene/?format=api" }, "data": { "type": "Gene", "id": "SCRIB" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1682/?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": 6 } }