Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1306/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "539", "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": 3.977e-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": 8.794e-06, "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": 2.473452, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 31202752, "genomic_position_hg38": 31191431, "chromosome": "16", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:43.688183", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1574C>T", "protein_change": "p.Pro525Leu", "transcript_id": "NM_004960.3", "dbsnp_id": "rs886041390", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 4 }, "data": [ { "type": "Combination", "id": "OLI1306" }, { "type": "Combination", "id": "OLI1307" }, { "type": "Combination", "id": "OLI278" }, { "type": "Combination", "id": "OLI945" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/539/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/539/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/539/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/539/gene/?format=api" }, "data": { "type": "Gene", "id": "FUS" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/539/?format=api" } }, { "type": "SmallVariant", "id": "2738", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0477, "KGP_genomes_AFR_maf": 0.0136, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.2083, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0102, "gnomad_maf": 0.01909, "gnomad_AFR_maf": 0.01982, "gnomad_AMR_maf": 0.001304, "gnomad_ASJ_maf": 0.01222, "gnomad_EAS_maf": 0.2112, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0004661, "gnomad_OTH_maf": 0.009348, "gnomad_SAS_maf": 0.01132, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 4.463323, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 234737275, "genomic_position_hg38": 233828629, "chromosome": "2", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.943823", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.4156-1G>C", "protein_change": null, "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1306" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2738/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2738/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2738/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2738/gene/?format=api" }, "data": { "type": "Gene", "id": "MROH2A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2738/?format=api" } }, { "type": "SmallVariant", "id": "2739", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0587, "KGP_genomes_AFR_maf": 0.2148, "KGP_genomes_AMR_maf": 0.0144, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.01152, "gnomad_AFR_maf": 0.1923, "gnomad_AMR_maf": 0.01094, "gnomad_ASJ_maf": 0.004175, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.001109, "gnomad_OTH_maf": 0.009504, "gnomad_SAS_maf": 0.0004437, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.296506, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 234701492, "genomic_position_hg38": 233792846, "chromosome": "2", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.950024", "ref_allele": "A", "alt_allele": "G", "cdna_change": null, "protein_change": "p.Met208Val", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1306" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2739/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2739/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2739/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2739/gene/?format=api" }, "data": { "type": "Gene", "id": "MROH2A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2739/?format=api" } }, { "type": "SmallVariant", "id": "2740", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0064, "KGP_genomes_AFR_maf": 0.0174, "KGP_genomes_AMR_maf": 0.0101, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.002, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.003611, "gnomad_AFR_maf": 0.01016, "gnomad_AMR_maf": 0.005958, "gnomad_ASJ_maf": 0.01045, "gnomad_EAS_maf": 5.44e-05, "gnomad_FIN_maf": 4.621e-05, "gnomad_NFE_maf": 0.002454, "gnomad_OTH_maf": 0.008494, "gnomad_SAS_maf": 0.003201, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.311415, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 140406890, "genomic_position_hg38": 140688048, "chromosome": "3", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.956031", "ref_allele": "G", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Gly456Ser", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1306" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2740/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2740/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2740/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2740/gene/?format=api" }, "data": { "type": "Gene", "id": "TRIM42" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2740/?format=api" } }, { "type": "SmallVariant", "id": "2741", "attributes": { "frequencies": { "KGP_genomes_maf": 0.002, "KGP_genomes_AFR_maf": 0.0023, "KGP_genomes_AMR_maf": 0.0058, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.003, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.003095, "gnomad_AFR_maf": 0.0006767, "gnomad_AMR_maf": 0.003412, "gnomad_ASJ_maf": 0.0002976, "gnomad_EAS_maf": 5.437e-05, "gnomad_FIN_maf": 0.001618, "gnomad_NFE_maf": 0.00511, "gnomad_OTH_maf": 0.003911, "gnomad_SAS_maf": 0.0001633, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.429736, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 140409837, "genomic_position_hg38": 140690995, "chromosome": "3", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.962051", "ref_allele": "G", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Val630Met", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1306" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2741/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2741/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2741/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2741/gene/?format=api" }, "data": { "type": "Gene", "id": "TRIM42" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2741/?format=api" } }, { "type": "SmallVariant", "id": "2742", "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": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 4.040164, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 9088301, "genomic_position_hg38": 9066754, "chromosome": "11", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.968101", "ref_allele": "G", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Pro235Ser", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1306" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2742/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2742/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2742/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2742/gene/?format=api" }, "data": { "type": "Gene", "id": "SCUBE2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2742/?format=api" } }, { "type": "SmallVariant", "id": "2743", "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": 3.582e-05, "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": 0.0, "gnomad_OTH_maf": 0.0001631, "gnomad_SAS_maf": 0.0002613, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 4.469549, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 9077436, "genomic_position_hg38": 9055889, "chromosome": "11", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.974119", "ref_allele": "C", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Asp371Tyr", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1306" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2743/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2743/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2743/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2743/gene/?format=api" }, "data": { "type": "Gene", "id": "SCUBE2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2743/?format=api" } }, { "type": "SmallVariant", "id": "2744", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 6.02e-05, "gnomad_AFR_maf": 6.456e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.564e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0001062, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.268e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.384565, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 124403439, "genomic_position_hg38": 123918892, "chromosome": "12", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.980281", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Arg3699Cys", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1306" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2744/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2744/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2744/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2744/gene/?format=api" }, "data": { "type": "Gene", "id": "DNAH10" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2744/?format=api" } }, { "type": "SmallVariant", "id": "2745", "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": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.382026, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 124417979, "genomic_position_hg38": 123933432, "chromosome": "12", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.986438", "ref_allele": "G", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Trp4348Cys", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1306" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2745/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2745/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2745/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2745/gene/?format=api" }, "data": { "type": "Gene", "id": "DNAH10" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2745/?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": 9 } }