Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI984/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "2135", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.001112, "gnomad_AFR_maf": 0.0002512, "gnomad_AMR_maf": 0.0008096, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.001353, "gnomad_NFE_maf": 0.001809, "gnomad_OTH_maf": 0.0009843, "gnomad_SAS_maf": 0.0002286, "ESP_AA_maf": 0.0004539, "ESP_EA_maf": 0.001047 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.723366, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 39976713, "genomic_position_hg38": 41820461, "chromosome": "17", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.438009", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1256C>T", "protein_change": "p.Ser419Leu", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI984" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2135/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2135/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2135/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2135/gene/?format=api" }, "data": { "type": "Gene", "id": "FKBP10" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2135/?format=api" } }, { "type": "SmallVariant", "id": "2136", "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": 0.0001315, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.001433, "gnomad_NFE_maf": 1.764e-05, "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": 4.501893, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 92470358, "genomic_position_hg38": 92004014, "chromosome": "14", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.445006", "ref_allele": "A", "alt_allele": "T", "cdna_change": "c.3962T>A", "protein_change": "p.Leu1321Ter", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI984" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2136/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2136/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2136/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2136/gene/?format=api" }, "data": { "type": "Gene", "id": "TRIP11" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2136/?format=api" } }, { "type": "SmallVariant", "id": "2137", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "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": 0.001, "gnomad_maf": 0.001417, "gnomad_AFR_maf": 0.0002461, "gnomad_AMR_maf": 0.0001446, "gnomad_ASJ_maf": 0.0008937, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.000924, "gnomad_NFE_maf": 0.002684, "gnomad_OTH_maf": 0.00163, "gnomad_SAS_maf": 9.799e-05, "ESP_AA_maf": 0.000227, "ESP_EA_maf": 0.001628 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.800429, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 15470841, "genomic_position_hg38": 15330717, "chromosome": "2", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.451797", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.4228A>G", "protein_change": "p.Thr1410Ala", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI984" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2137/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2137/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2137/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2137/gene/?format=api" }, "data": { "type": "Gene", "id": "NBAS" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2137/?format=api" } }, { "type": "SmallVariant", "id": "2138", "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": 0.0006066, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.006394, "gnomad_NFE_maf": 0.0001063, "gnomad_OTH_maf": 0.000331, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0001221 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.897939, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 170520286, "genomic_position_hg38": 169599135, "chromosome": "4", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.458492", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.277A>G", "protein_change": "p.Asn93Asp", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI984" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2138/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2138/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2138/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2138/gene/?format=api" }, "data": { "type": "Gene", "id": "NEK1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2138/?format=api" } }, { "type": "SmallVariant", "id": "2139", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0022, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0072, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.006, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.00334, "gnomad_AFR_maf": 0.0009843, "gnomad_AMR_maf": 0.006447, "gnomad_ASJ_maf": 9.921e-05, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0007853, "gnomad_NFE_maf": 0.004773, "gnomad_OTH_maf": 0.005213, "gnomad_SAS_maf": 0.0002613, "ESP_AA_maf": 0.0004539, "ESP_EA_maf": 0.004884 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.15996, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 114837349, "genomic_position_hg38": 114399544, "chromosome": "12", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.465125", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.331G>T", "protein_change": "p.Asp111Tyr", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI984" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2139/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2139/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2139/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2139/gene/?format=api" }, "data": { "type": "Gene", "id": "TBX5" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2139/?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 } }