Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/GJB2/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "24", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.0001433, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.892e-05, "gnomad_ASJ_maf": 9.93e-05, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.811e-05, "gnomad_OTH_maf": 0.000163, "gnomad_SAS_maf": 0.0007515, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.407918, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 20763234, "genomic_position_hg38": 20189095, "chromosome": "13", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:40.654235", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.487A>G", "protein_change": "p.Met163Val", "transcript_id": "NM_004004.5", "dbsnp_id": "rs80338949", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI013" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/24/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/24/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/24/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/24/gene/?format=api" }, "data": { "type": "Gene", "id": "GJB2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/24/?format=api" } }, { "type": "SmallVariant", "id": "120", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0089, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.005967, "gnomad_AFR_maf": 0.001169, "gnomad_AMR_maf": 0.0048, "gnomad_ASJ_maf": 0.003177, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.008084, "gnomad_NFE_maf": 0.009197, "gnomad_OTH_maf": 0.007183, "gnomad_SAS_maf": 0.0008167, "ESP_AA_maf": 0.0009381, "ESP_EA_maf": 0.01078 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 3.933273, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 20763685, "genomic_position_hg38": 20189546, "chromosome": "13", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:41.233244", "ref_allele": "AC", "alt_allele": "A", "cdna_change": "c.35delG", "protein_change": "p.Gly12ValfsTer2", "transcript_id": "NM_004004.6", "dbsnp_id": "rs80338939", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI060" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/120/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/120/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/120/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/120/gene/?format=api" }, "data": { "type": "Gene", "id": "GJB2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/120/?format=api" } }, { "type": "SmallVariant", "id": "282", "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": 3.023836, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 20763083, "genomic_position_hg38": 20188944, "chromosome": "13", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.183391", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.638T>C", "protein_change": "p.Leu213Ser", "transcript_id": "NM_004004.5", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI135" }, { "type": "Combination", "id": "OLI136" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/282/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/282/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/282/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/282/gene/?format=api" }, "data": { "type": "Gene", "id": "GJB2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/282/?format=api" } }, { "type": "SmallVariant", "id": "283", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0154, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0734, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.00772, "gnomad_AFR_maf": 0.0008612, "gnomad_AMR_maf": 0.002632, "gnomad_ASJ_maf": 0.008058, "gnomad_EAS_maf": 0.08274, "gnomad_FIN_maf": 0.001803, "gnomad_NFE_maf": 0.001326, "gnomad_OTH_maf": 0.004407, "gnomad_SAS_maf": 0.0003924, "ESP_AA_maf": 0.000227, "ESP_EA_maf": 0.00186 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 2.465987, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 20763612, "genomic_position_hg38": 20189473, "chromosome": "13", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.189394", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.109G>A", "protein_change": "p.Val37Ile", "transcript_id": "NM_004004.5", "dbsnp_id": "rs72474224", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI1315" }, { "type": "Combination", "id": "OLI136" }, { "type": "Combination", "id": "OLI137" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/283/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/283/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/283/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/283/gene/?format=api" }, "data": { "type": "Gene", "id": "GJB2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/283/?format=api" } }, { "type": "SmallVariant", "id": "376", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0079, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0004694, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.006198, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.759e-05, "gnomad_OTH_maf": 0.0001631, "gnomad_SAS_maf": 3.266e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 4.860717, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 20763485, "genomic_position_hg38": 20189346, "chromosome": "13", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:42.723518", "ref_allele": "AG", "alt_allele": "A", "cdna_change": "c.235delC", "protein_change": "p.Leu79CysfsTer3", "transcript_id": "NM_004004.7", "dbsnp_id": "rs80338943", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI192" }, { "type": "Combination", "id": "OLI193" }, { "type": "Combination", "id": "OLI251" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/376/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/376/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/376/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/376/gene/?format=api" }, "data": { "type": "Gene", "id": "GJB2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/376/?format=api" } }, { "type": "SmallVariant", "id": "378", "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": 6.375e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.00087, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 4.42933, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 20763420, "genomic_position_hg38": 20189281, "chromosome": "13", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:42.736244", "ref_allele": "CAT", "alt_allele": "C", "cdna_change": "c.299_300del", "protein_change": "p.His100ArgfsTer14", "transcript_id": "NM_004004.8", "dbsnp_id": "rs111033204", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI194" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/378/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/378/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/378/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/378/gene/?format=api" }, "data": { "type": "Gene", "id": "GJB2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/378/?format=api" } }, { "type": "SmallVariant", "id": "490", "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": 3.530739, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 20763143, "genomic_position_hg38": 20189004, "chromosome": "13", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:43.409499", "ref_allele": "A", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Val193Glu", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI252" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/490/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/490/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/490/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/490/gene/?format=api" }, "data": { "type": "Gene", "id": "GJB2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/490/?format=api" } }, { "type": "SmallVariant", "id": "874", "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": -0.011734, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 20763625, "genomic_position_hg38": 20189486, "chromosome": "13", "annotation_flag": "manually_corrected", "lastmodified": "2023-06-06T16:57:45.743686", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.96C>T", "protein_change": "p.Arg32=", "transcript_id": "NM_004004.8", "dbsnp_id": "NA", "variant_effect": "silent" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI406" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/874/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/874/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/874/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/874/gene/?format=api" }, "data": { "type": "Gene", "id": "GJB2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/874/?format=api" } }, { "type": "SmallVariant", "id": "2388", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0, "KGP_genomes_AFR_maf": 0.0, "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": 0.0001392, "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": 0.0, "gnomad_SAS_maf": 0.001143, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0001163 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 8.619055, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 20763490, "genomic_position_hg38": 20189351, "chromosome": "13", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.964455", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.231G>A", "protein_change": "p.Trp77Ter", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 4 }, "data": [ { "type": "Combination", "id": "OLI1100" }, { "type": "Combination", "id": "OLI1101" }, { "type": "Combination", "id": "OLI1103" }, { "type": "Combination", "id": "OLI1104" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2388/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2388/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2388/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2388/gene/?format=api" }, "data": { "type": "Gene", "id": "GJB2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2388/?format=api" } }, { "type": "SmallVariant", "id": "2754", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.001, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0001156, "gnomad_AFR_maf": 0.0007405, "gnomad_AMR_maf": 8.677e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0001088, "gnomad_FIN_maf": 0.0001388, "gnomad_NFE_maf": 5.293e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 9.801e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.032187, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 20763294, "genomic_position_hg38": 20189155, "chromosome": "13", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.041041", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.427C>T", "protein_change": "p.Arg143Trp", "transcript_id": "NM_004004.5", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1313" }, { "type": "Combination", "id": "OLI1315" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2754/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2754/combinations/?format=api" 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