Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI701/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1519", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0062, "KGP_genomes_AFR_maf": 0.0023, "KGP_genomes_AMR_maf": 0.0173, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0139, "KGP_genomes_SAS_maf": 0.002, "gnomad_maf": 0.007851, "gnomad_AFR_maf": 0.003392, "gnomad_AMR_maf": 0.009805, "gnomad_ASJ_maf": 0.001923, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.003911, "gnomad_NFE_maf": 0.01183, "gnomad_OTH_maf": 0.0138, "gnomad_SAS_maf": 0.00161, "ESP_AA_maf": 0.003635, "ESP_EA_maf": 0.01059 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.032615, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 109801543, "genomic_position_hg38": 109258921, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.653429", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.3800A>G", "protein_change": "p.His1267Arg", "transcript_id": "NM_001408.2", "dbsnp_id": "rs138543788", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 5 }, "data": [ { "type": "Combination", "id": "OLI699" }, { "type": "Combination", "id": "OLI701" }, { "type": "Combination", "id": "OLI720" }, { "type": "Combination", "id": "OLI736" }, { "type": "Combination", "id": "OLI746" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1519/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1519/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1519/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1519/gene/?format=api" }, "data": { "type": "Gene", "id": "CELSR2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1519/?format=api" } }, { "type": "SmallVariant", "id": "1526", "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": 4.771e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.891e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 7.911e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 6.533e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.62923, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 34485691, "genomic_position_hg38": 34464144, "chromosome": "11", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:49.696461", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1235C>T", "protein_change": "p.Pro412Leu", "transcript_id": "NM_001752.4", "dbsnp_id": "rs770216105", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI701" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1526/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1526/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1526/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1526/gene/?format=api" }, "data": { "type": "Gene", "id": "CAT" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1526/?format=api" } }, { "type": "SmallVariant", "id": "1527", "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": 7.997e-06, "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": 1.775e-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": "Benign", "cadd_prediction": 2.59957, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 6648404, "genomic_position_hg38": 6627173, "chromosome": "11", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.702713", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.5866C>T", "protein_change": "p.His1956Tyr", "transcript_id": "NM_003737.3", "dbsnp_id": "rs755681858", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI701" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1527/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1527/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1527/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1527/gene/?format=api" }, "data": { "type": "Gene", "id": "DCHS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1527/?format=api" } }, { "type": "SmallVariant", "id": "1528", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0036, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0144, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.006, "KGP_genomes_SAS_maf": 0.002, "gnomad_maf": 0.008122, "gnomad_AFR_maf": 0.0009281, "gnomad_AMR_maf": 0.00642, "gnomad_ASJ_maf": 0.04775, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.003604, "gnomad_NFE_maf": 0.008563, "gnomad_OTH_maf": 0.01507, "gnomad_SAS_maf": 0.005946, "ESP_AA_maf": 0.001362, "ESP_EA_maf": 0.008721 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.684674, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 48677191, "genomic_position_hg38": 48639758, "chromosome": "3", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.708860", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.9827C>T", "protein_change": "p.Pro3276Leu", "transcript_id": "NM_001407.2", "dbsnp_id": "rs61729242", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI701" }, { "type": "Combination", "id": "OLI737" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1528/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1528/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1528/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1528/gene/?format=api" }, "data": { "type": "Gene", "id": "CELSR3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1528/?format=api" } }, { "type": "SmallVariant", "id": "1529", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0043, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0003795, "gnomad_AFR_maf": 0.0001231, "gnomad_AMR_maf": 0.0007041, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.000581, "gnomad_OTH_maf": 0.0003291, "gnomad_SAS_maf": 3.305e-05, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0004651 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.955475, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 98649964, "genomic_position_hg38": 99052341, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.715096", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.585C>G", "protein_change": "p.Cys195Trp", "transcript_id": "NM_001199847.1", "dbsnp_id": "rs201268508", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI701" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1529/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1529/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1529/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1529/gene/?format=api" }, "data": { "type": "Gene", "id": "SMURF1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1529/?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 } }