Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI967/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "693", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.002, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.001432, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 8.674e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.01146, "gnomad_NFE_maf": 0.0007296, "gnomad_OTH_maf": 0.001304, "gnomad_SAS_maf": 0.0005879, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.000814 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.508335, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 33039603, "genomic_position_hg38": 31667290, "chromosome": "21", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.616879", "ref_allele": "A", "alt_allele": "C", "cdna_change": "c.272A>C", "protein_change": "p.Asp91Ala", "transcript_id": "NM_000454.4", "dbsnp_id": "rs80265967", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 9 }, "data": [ { "type": "Combination", "id": "OLI335" }, { "type": "Combination", "id": "OLI777" }, { "type": "Combination", "id": "OLI964" }, { "type": "Combination", "id": "OLI965" }, { "type": "Combination", "id": "OLI966" }, { "type": "Combination", "id": "OLI967" }, { "type": "Combination", "id": "OLI968" }, { "type": "Combination", "id": "OLI969" }, { "type": "Combination", "id": "OLI970" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/693/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/693/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/693/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/693/gene/?format=api" }, "data": { "type": "Gene", "id": "SOD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/693/?format=api" } }, { "type": "SmallVariant", "id": "2090", "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": null, "pp2_hvar_prediction": null, "cadd_prediction": 0.214709, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 220116509, "genomic_position_hg38": 219251787, "chromosome": "2", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.150608", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.227-74C>T", "protein_change": null, "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI967" }, { "type": "Combination", "id": "OLI968" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2090/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2090/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2090/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2090/gene/?format=api" }, "data": { "type": "Gene", "id": "TUBA4A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2090/?format=api" } }, { "type": "SmallVariant", "id": "2091", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0018, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0072, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.004, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.001402, "gnomad_AFR_maf": 0.0001242, "gnomad_AMR_maf": 0.001793, "gnomad_ASJ_maf": 0.009627, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.001479, "gnomad_OTH_maf": 0.002624, "gnomad_SAS_maf": 0.0002287, "ESP_AA_maf": 0.0006824, "ESP_EA_maf": 0.00221 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.700847, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 44856827, "genomic_position_hg38": 44564629, "chromosome": "15", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.156977", "ref_allele": "G", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Leu2357Phe", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI967" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2091/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2091/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2091/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2091/gene/?format=api" }, "data": { "type": "Gene", "id": "SPG11" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2091/?format=api" } }, { "type": "SmallVariant", "id": "2086", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": 0.7526, "KGP_genomes_AMR_maf": 0.4986, "KGP_genomes_EAS_maf": 0.6657, "KGP_genomes_EUR_maf": 0.2903, "KGP_genomes_SAS_maf": 0.4243, "gnomad_maf": 0.3784, "gnomad_AFR_maf": 0.6788, "gnomad_AMR_maf": 0.4952, "gnomad_ASJ_maf": 0.3073, "gnomad_EAS_maf": 0.6594, "gnomad_FIN_maf": 0.2769, "gnomad_NFE_maf": 0.2814, "gnomad_OTH_maf": 0.3353, "gnomad_SAS_maf": 0.3824, "ESP_AA_maf": 0.6605, "ESP_EA_maf": 0.285 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": -0.073767, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 94937446, "genomic_position_hg38": 95308134, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.125586", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.575A>G", "protein_change": "p.Gln192Arg", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 4 }, "data": [ { "type": "Combination", "id": "OLI965" }, { "type": "Combination", "id": "OLI967" }, { "type": "Combination", "id": "OLI969" }, { "type": "Combination", "id": "OLI970" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2086/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2086/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2086/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2086/gene/?format=api" }, "data": { "type": "Gene", "id": "PON1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2086/?format=api" } }, { "type": "SmallVariant", "id": "2087", "attributes": { "frequencies": { "KGP_genomes_maf": 0.4245, "KGP_genomes_AFR_maf": 0.7345, "KGP_genomes_AMR_maf": 0.2421, "KGP_genomes_EAS_maf": 0.38, "KGP_genomes_EUR_maf": 0.3012, "KGP_genomes_SAS_maf": 0.3078, "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": null, "pp2_hvar_prediction": null, "cadd_prediction": 0.421735, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 42430244, "genomic_position_hg38": 44352876, "chromosome": "17", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.131716", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.*78C>T", "protein_change": null, "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 5 }, "data": [ { "type": "Combination", "id": "OLI965" }, { "type": "Combination", "id": "OLI966" }, { "type": "Combination", "id": "OLI967" }, { "type": "Combination", "id": "OLI968" }, { "type": "Combination", "id": "OLI969" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2087/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2087/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2087/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2087/gene/?format=api" }, "data": { "type": "Gene", "id": "GRN" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2087/?format=api" } }, { "type": "SmallVariant", "id": "2092", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0048, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0086, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0119, "KGP_genomes_SAS_maf": 0.0051, "gnomad_maf": 0.008981, "gnomad_AFR_maf": 0.002326, "gnomad_AMR_maf": 0.006741, "gnomad_ASJ_maf": 0.02732, "gnomad_EAS_maf": 9.498e-05, "gnomad_FIN_maf": 0.00167, "gnomad_NFE_maf": 0.01092, "gnomad_OTH_maf": 0.01012, "gnomad_SAS_maf": 0.007514, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 1.419745, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 57020044, "genomic_position_hg38": 58444988, "chromosome": "20", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.163179", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.*753C>G", "protein_change": null, "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI967" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2092/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2092/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2092/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2092/gene/?format=api" }, "data": { "type": "Gene", "id": "VAPB" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2092/?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 } }