Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1558/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "3275", "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": 4.238e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.966e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.563e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.471808, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 127253446, "genomic_position_hg38": 124491167, "chromosome": "9", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.137362", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1052C>T", "protein_change": "p.Aal351Val", "transcript_id": "NM_004959", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1558" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3275/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3275/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3275/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3275/gene/?format=api" }, "data": { "type": "Gene", "id": "NR5A1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3275/?format=api" } }, { "type": "SmallVariant", "id": "2725", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0005925, "gnomad_AFR_maf": 0.001292, "gnomad_AMR_maf": 0.001417, "gnomad_ASJ_maf": 0.002083, "gnomad_EAS_maf": 0.0002175, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0003692, "gnomad_OTH_maf": 0.001954, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.012438, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 5294763, "genomic_position_hg38": 5314117, "chromosome": "20", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.865114", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.253C>T", "protein_change": "p.Arg85Cys", "transcript_id": "NM_144773.4", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 7 }, "data": [ { "type": "Combination", "id": "OLI1297" }, { "type": "Combination", "id": "OLI1525" }, { "type": "Combination", "id": "OLI1544" }, { "type": "Combination", "id": "OLI1547" }, { "type": "Combination", "id": "OLI1548" }, { "type": "Combination", "id": "OLI1558" }, { "type": "Combination", "id": "OLI1567" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2725/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2725/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2725/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2725/gene/?format=api" }, "data": { "type": "Gene", "id": "PROKR2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2725/?format=api" } }, { "type": "SmallVariant", "id": "3276", "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": 8.09e-05, "gnomad_AFR_maf": 0.000319, "gnomad_AMR_maf": 0.0002613, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.491e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 3.601e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.274e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.883387, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 1807161, "genomic_position_hg38": 1805434, "chromosome": "4", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.143404", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1498C>T", "protein_change": "p.Arg500Trp", "transcript_id": "NM_001163213", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1558" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3276/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3276/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3276/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3276/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3276/?format=api" } }, { "type": "SmallVariant", "id": "3199", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0008, "KGP_genomes_AFR_maf": 0.0023, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0005995, "gnomad_AFR_maf": 0.006309, "gnomad_AMR_maf": 0.0009562, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0001178, "gnomad_OTH_maf": 0.0003292, "gnomad_SAS_maf": 6.537e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.258477, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 121747018, "genomic_position_hg38": 120989442, "chromosome": "2", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.675475", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.3528G>T", "protein_change": "p.Gln1176His", "transcript_id": "NM_005270", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI1524" }, { "type": "Combination", "id": "OLI1558" }, { "type": "Combination", "id": "OLI1746" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3199/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3199/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3199/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3199/gene/?format=api" }, "data": { "type": "Gene", "id": "GLI2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3199/?format=api" } }, { "type": "SmallVariant", "id": "3204", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0016, "KGP_genomes_AFR_maf": 0.0045, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0005136, "gnomad_AFR_maf": 0.003384, "gnomad_AMR_maf": 0.0008394, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.000317, "gnomad_OTH_maf": 0.001472, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.727098, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 117121767, "genomic_position_hg38": 116800604, "chromosome": "6", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.706527", "ref_allele": "T", "alt_allele": "G", "cdna_change": "c.1528A>C", "protein_change": "p.Asn510His", "transcript_id": "NM_148963", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI1526" }, { "type": "Combination", "id": "OLI1558" }, { "type": "Combination", "id": "OLI1563" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3204/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3204/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3204/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3204/gene/?format=api" }, "data": { "type": "Gene", "id": "GPRC6A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3204/?format=api" } }, { "type": "SmallVariant", "id": "3277", "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": 7.736e-05, "gnomad_AFR_maf": 8.779e-05, "gnomad_AMR_maf": 3.765e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0001392, "gnomad_NFE_maf": 0.0001223, "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": 0.716641, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 153583083, "genomic_position_hg38": 154354715, "chromosome": "X", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.149644", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.5218-4G>A", "protein_change": null, "transcript_id": "NM_001110556", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1558" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3277/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3277/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3277/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3277/gene/?format=api" }, "data": { "type": "Gene", "id": "FLNA" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3277/?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) 2026 · 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 } }