Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI031/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "64", "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": null, "pp2_hvar_prediction": null, "cadd_prediction": 5.016392, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 1457464, "genomic_position_hg38": 1453692, "chromosome": "2", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:40.899458", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.483-2A>G", "protein_change": null, "transcript_id": "NM_000547.5", "dbsnp_id": "NA", "variant_effect": "splicing" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI031" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/64/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/64/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/64/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/64/gene/?format=api" }, "data": { "type": "Gene", "id": "TPO" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/64/?format=api" } }, { "type": "SmallVariant", "id": "65", "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": 1.196e-05, "gnomad_AFR_maf": 0.0001856, "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": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.000227, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 2.179962, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 1488564, "genomic_position_hg38": 1484792, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:40.905738", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.1535C>A", "protein_change": "p.Pro512His", "transcript_id": "NM_000547.5", "dbsnp_id": "rs150489706", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI031" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/65/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/65/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/65/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/65/gene/?format=api" }, "data": { "type": "Gene", "id": "TPO" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/65/?format=api" } }, { "type": "SmallVariant", "id": "66", "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": 4.201137, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 1491754, "genomic_position_hg38": 1487982, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:40.911897", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1759G>A", "protein_change": "p.Gly587Arg", "transcript_id": "NM_000547.5", "dbsnp_id": "rs770562452", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI031" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/66/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/66/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/66/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/66/gene/?format=api" }, "data": { "type": "Gene", "id": "TPO" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/66/?format=api" } }, { "type": "SmallVariant", "id": "67", "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": null, "pp2_hvar_prediction": null, "cadd_prediction": 4.910688, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 133953594, "genomic_position_hg38": 132941349, "chromosome": "8", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:40.918253", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.5042-2A>G", "protein_change": null, "transcript_id": "NM_003235.4", "dbsnp_id": "NA", "variant_effect": "splicing" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI031" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/67/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/67/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/67/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/67/gene/?format=api" }, "data": { "type": "Gene", "id": "TG" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/67/?format=api" } }, { "type": "SmallVariant", "id": "68", "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": null, "pp2_hvar_prediction": null, "cadd_prediction": 3.163831, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 45400988, "genomic_position_hg38": 45108790, "chromosome": "15", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:40.924551", "ref_allele": "TGG", "alt_allele": "T", "cdna_change": "c.1395_1396delCC", "protein_change": "p.Gln466GlyfsTer49", "transcript_id": "NM_014080.4", "dbsnp_id": "NA", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI031" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/68/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/68/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/68/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/68/gene/?format=api" }, "data": { "type": "Gene", "id": "DUOX2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/68/?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 } }