Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1040/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "2252", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0018, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.006, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.004597, "gnomad_AFR_maf": 0.001141, "gnomad_AMR_maf": 0.003204, "gnomad_ASJ_maf": 0.0003646, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.002957, "gnomad_NFE_maf": 0.009017, "gnomad_OTH_maf": 0.003861, "gnomad_SAS_maf": 0.0007873, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.028357, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 32008783, "genomic_position_hg38": 32041006, "chromosome": "6", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.139935", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1360C>T", "protein_change": "p.Pro454Ser", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1040" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2252/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2252/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2252/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2252/gene/?format=api" }, "data": { "type": "Gene", "id": "CYP21A2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2252/?format=api" } }, { "type": "SmallVariant", "id": "2253", "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": 3.979e-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": 8.798e-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": "Damaging", "cadd_prediction": 3.504186, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 108106483, "genomic_position_hg38": 108235756, "chromosome": "11", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.146321", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.418G>C", "protein_change": "p.Asp140His", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1040" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2253/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2253/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2253/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2253/gene/?format=api" }, "data": { "type": "Gene", "id": "ATM" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2253/?format=api" } }, { "type": "SmallVariant", "id": "2254", "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": 0.000175, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0001445, "gnomad_ASJ_maf": 0.002579, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 7.912e-05, "gnomad_OTH_maf": 0.0004888, "gnomad_SAS_maf": 3.266e-05, "ESP_AA_maf": 0.0002275, "ESP_EA_maf": 0.0001163 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.978605, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 91312388, "genomic_position_hg38": 90769158, "chromosome": "15", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.152382", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.2333C>G", "protein_change": "p.Ser778Cys", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1040" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2254/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2254/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2254/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2254/gene/?format=api" }, "data": { "type": "Gene", "id": "BLM" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2254/?format=api" } }, { "type": "SmallVariant", "id": "2255", "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": 2.805e-05, "gnomad_AFR_maf": 0.0001292, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 2.649e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 6.536e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.436571, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 5239974, "genomic_position_hg38": 5239861, "chromosome": "5", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.158382", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.2459G>A", "protein_change": "p.Arg820Gln", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1040" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2255/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2255/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2255/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2255/gene/?format=api" }, "data": { "type": "Gene", "id": "ADAMTS16" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2255/?format=api" } }, { "type": "SmallVariant", "id": "2256", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.001, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 6.375e-05, "gnomad_AFR_maf": 0.000123, "gnomad_AMR_maf": 0.0001157, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 7.059e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 6.533e-05, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0002326 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.764369, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 49195844, "genomic_position_hg38": 48968705, "chromosome": "2", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.164397", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.847C>T", "protein_change": "p.Arg283Trp", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1040" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2256/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2256/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2256/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2256/gene/?format=api" }, "data": { "type": "Gene", "id": "FSHR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2256/?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 } }