Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI617/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "82", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0, "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": 1.591e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 8.675e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0001629, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 8.561005, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 66299163, "genomic_position_hg38": 66531692, "chromosome": "11", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.011861", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.1645G>T", "protein_change": "p.Glu549Ter", "transcript_id": "NM_024649.4", "dbsnp_id": "rs121917777", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 4 }, "data": [ { "type": "Combination", "id": "OLI038" }, { "type": "Combination", "id": "OLI139" }, { "type": "Combination", "id": "OLI141" }, { "type": "Combination", "id": "OLI617" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/82/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/82/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/82/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/82/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/82/?format=api" } }, { "type": "SmallVariant", "id": "1354", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0058, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0375, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.002, "gnomad_maf": 0.007518, "gnomad_AFR_maf": 0.0009883, "gnomad_AMR_maf": 0.05274, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 6.175e-05, "gnomad_OTH_maf": 0.006368, "gnomad_SAS_maf": 3.267e-05, "ESP_AA_maf": 0.0004539, "ESP_EA_maf": 0.0004651 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.821613, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 110962532, "genomic_position_hg38": 110204955, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.634967", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.14G>T", "protein_change": "p.Arg5Leu", "transcript_id": "NM_207181.2", "dbsnp_id": "rs190983114", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI617" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1354/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1354/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1354/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1354/gene/?format=api" }, "data": { "type": "Gene", "id": "NPHP1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1354/?format=api" } }, { "type": "SmallVariant", "id": "1355", "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": 7.962e-06, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.892e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0001632, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.351891, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 73015168, "genomic_position_hg38": 72722827, "chromosome": "15", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.640830", "ref_allele": "T", "alt_allele": "A", "cdna_change": "c.439T>A", "protein_change": "p.Tyr147Asn", "transcript_id": "NM_001320665.1", "dbsnp_id": "rs781691906", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI617" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1355/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1355/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1355/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1355/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1355/?format=api" } }, { "type": "SmallVariant", "id": "1356", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0024, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0173, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.006341, "gnomad_AFR_maf": 0.0007392, "gnomad_AMR_maf": 0.04477, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 6.162e-05, "gnomad_OTH_maf": 0.004405, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.000227, "ESP_EA_maf": 0.000349 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.386821, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 170350312, "genomic_position_hg38": 169493802, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.646670", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.584A>G", "protein_change": "p.Asp195Gly", "transcript_id": "NM_152384.2", "dbsnp_id": "rs143191074", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI617" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1356/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1356/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1356/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1356/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS5" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1356/?format=api" } }, { "type": "SmallVariant", "id": "1357", "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": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.046155, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 122780233, "genomic_position_hg38": 121859078, "chromosome": "4", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.652428", "ref_allele": "T", "alt_allele": "G", "cdna_change": "c.442A>C", "protein_change": "p.Asn148His", "transcript_id": "NM_176824.2", "dbsnp_id": "rs982037757", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI617" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1357/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1357/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1357/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1357/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1357/?format=api" } }, { "type": "CopyNumberVariant", "id": "1358", "attributes": { "status": "CU", "genomic_position_hg19": 66274840, "genomic_position_hg38": 66507369, "chromosome": "11", "annotation_flag": "cnv", "lastmodified": "2021-10-18T11:01:08.145206", "location": "exon1_11", "sequence": "exon1_11", "number_of_repeats": null, "type_cnv": "deletion" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI617" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1358/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1358/combinations/?format=api" } }, "gene_name": { "data": { "type": "Gene", "id": "BBS1" }, "links": { "related": "https://olida.ibsquare.be/api/genes/BBS1/?format=api" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1358/?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 } }