Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/AXL/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "902", "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": 1.934e-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": 4.304e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.60089, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 41727943, "genomic_position_hg38": 41222038, "chromosome": "19", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.916651", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.568C>T", "protein_change": "p.Arg190Cys", "transcript_id": "NM_021913.4", "dbsnp_id": "rs770407415", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI421" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/902/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/902/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/902/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/902/gene/?format=api" }, "data": { "type": "Gene", "id": "AXL" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/902/?format=api" } }, { "type": "SmallVariant", "id": "903", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0058, "KGP_genomes_AFR_maf": 0.0219, "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": 0.001062, "gnomad_AFR_maf": 0.01589, "gnomad_AMR_maf": 0.0008826, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.001041, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.000116, "gnomad_OTH_maf": 0.0002296, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.01097, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 0.671655, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 41725258, "genomic_position_hg38": 41219353, "chromosome": "19", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:45.923092", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.-40C>T", "protein_change": "p.Leu1extMet-13", "transcript_id": "NM_021913.4", "dbsnp_id": "rs369717581", "variant_effect": "unknown" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI422" }, { "type": "Combination", "id": "OLI423" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/903/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/903/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/903/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/903/gene/?format=api" }, "data": { "type": "Gene", "id": "AXL" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/903/?format=api" } }, { "type": "SmallVariant", "id": "1849", "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": 1.193e-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": 2.639e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0001163 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.918224, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 41754460, "genomic_position_hg38": 41248555, "chromosome": "19", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:51.684188", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1579C>T", "protein_change": "p.Arg527Trp", "transcript_id": "NM_021913.4", "dbsnp_id": "rs374709166", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI845" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1849/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1849/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1849/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1849/gene/?format=api" }, "data": { "type": "Gene", "id": "AXL" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1849/?format=api" } }, { "type": "SmallVariant", "id": "1923", "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": 4.24905, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 41754500, "genomic_position_hg38": 41248595, "chromosome": "19", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:52.146391", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.1619A>G", "protein_change": "p.Lys540Arg", "transcript_id": "NM_021913.4", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI883" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1923/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1923/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1923/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1923/gene/?format=api" }, "data": { "type": "Gene", "id": "AXL" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1923/?format=api" } }, { "type": "SmallVariant", "id": "1942", "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": 1.991e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0001088, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 9.819e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.604844, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 41759543, "genomic_position_hg38": 41253638, "chromosome": "19", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:52.269895", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.1939A>G", "protein_change": "p.Ile647Val", "transcript_id": "NM_001699.4", "dbsnp_id": "rs756620684", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI894" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1942/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1942/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1942/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1942/gene/?format=api" }, "data": { "type": "Gene", "id": "AXL" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1942/?format=api" } }, { "type": "SmallVariant", "id": "1952", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0022, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0099, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.0005928, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.007557, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.76e-05, "gnomad_OTH_maf": 0.0004894, "gnomad_SAS_maf": 0.0001633, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.320691, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 41748818, "genomic_position_hg38": 41242913, "chromosome": "19", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:52.328202", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.1343G>T", "protein_change": "p.Trp448Leu", "transcript_id": "NM_021913.4", "dbsnp_id": "rs117588892", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI902" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1952/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1952/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1952/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1952/gene/?format=api" }, "data": { "type": "Gene", "id": "AXL" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1952/?format=api" } }, { "type": "SmallVariant", "id": "2995", "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": 6.771e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.894e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.437e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0001322, "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": 1.240495, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 41765694, "genomic_position_hg38": 41259789, "chromosome": "19", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.489744", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.2570C>T", "protein_change": "p.Ala857Val", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1424" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2995/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2995/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2995/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2995/gene/?format=api" }, "data": { "type": "Gene", "id": "AXL" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2995/?format=api" } }, { "type": "SmallVariant", "id": "3007", "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": 1.591e-05, "gnomad_AFR_maf": 6.152e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.791e-06, "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": 4.429252, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 41762439, "genomic_position_hg38": 41256534, "chromosome": "19", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.562438", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.2119C>T", "protein_change": "p.Arg707Cys", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1428" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3007/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3007/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3007/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3007/gene/?format=api" }, "data": { "type": "Gene", "id": "AXL" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3007/?format=api" } }, { "type": "SmallVariant", "id": "3371", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0022, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.006, "KGP_genomes_SAS_maf": 0.0041, "gnomad_maf": 0.004221, "gnomad_AFR_maf": 0.001292, "gnomad_AMR_maf": 0.001937, "gnomad_ASJ_maf": 0.001489, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.001571, "gnomad_NFE_maf": 0.00717, "gnomad_OTH_maf": 0.003422, "gnomad_SAS_maf": 0.002874, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.179967, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 41754430, "genomic_position_hg38": 41248525, "chromosome": "19", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.723304", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1549G>A", "protein_change": "p.Gly517Ser", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1597" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3371/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3371/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3371/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3371/gene/?format=api" }, "data": { "type": "Gene", "id": "AXL" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3371/?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 } }