Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/MYH7/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "134", "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": 4.320006, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 23893268, "genomic_position_hg38": 23424059, "chromosome": "14", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.311579", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.2770G>A", "protein_change": "p.Glu924Lys", "transcript_id": "NM_000257.3", "dbsnp_id": "rs121913628", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI068" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/134/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/134/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/134/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/134/gene/?format=api" }, "data": { "type": "Gene", "id": "MYH7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/134/?format=api" } }, { "type": "SmallVariant", "id": "456", "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": 6.365e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 4.619e-05, "gnomad_NFE_maf": 0.000132, "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": "Possibly Damaging", "cadd_prediction": 3.810451, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 23886722, "genomic_position_hg38": 23417513, "chromosome": "14", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:43.194607", "ref_allele": "T", "alt_allele": "A", "cdna_change": "c.4343A>T", "protein_change": "p.Asn1448Ile", "transcript_id": "NM_000257.3", "dbsnp_id": "rs753484341", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI234" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/456/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/456/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/456/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/456/gene/?format=api" }, "data": { "type": "Gene", "id": "MYH7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/456/?format=api" } }, { "type": "SmallVariant", "id": "458", "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": 3.8748, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 23894012, "genomic_position_hg38": 23424803, "chromosome": "14", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:43.207142", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.2645A>G", "protein_change": "p.Gln882Arg", "transcript_id": "NM_000257.3", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI235" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/458/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/458/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/458/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/458/gene/?format=api" }, "data": { "type": "Gene", "id": "MYH7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/458/?format=api" } }, { "type": "SmallVariant", "id": "893", "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": 3.976e-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": 8.79e-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": 4.316818, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 23893175, "genomic_position_hg38": 23423966, "chromosome": "14", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.858481", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.2863G>A", "protein_change": "p.Asp955Asn", "transcript_id": "NM_000257.3", "dbsnp_id": "rs886039204", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI416" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/893/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/893/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/893/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/893/gene/?format=api" }, "data": { "type": "Gene", "id": "MYH7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/893/?format=api" } }, { "type": "SmallVariant", "id": "962", "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": 3.825415, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 23894983, "genomic_position_hg38": 23425774, "chromosome": "14", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:46.286913", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.2207T>C", "protein_change": "p.Ile736Thr", "transcript_id": "NM_000257.3", "dbsnp_id": "rs727503261", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI451" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/962/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/962/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/962/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/962/gene/?format=api" }, "data": { "type": "Gene", "id": "MYH7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/962/?format=api" } }, { "type": "SmallVariant", "id": "1190", "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": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.437e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.758e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.266e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.906938, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 23900998, "genomic_position_hg38": 23431789, "chromosome": "14", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.681982", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.611G>A", "protein_change": "p.Arg204His", "transcript_id": "NM_000257.3", "dbsnp_id": "rs397516260", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI569" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1190/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1190/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1190/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1190/gene/?format=api" }, "data": { "type": "Gene", "id": "MYH7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1190/?format=api" } }, { "type": "SmallVariant", "id": "1196", "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": 2.891e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.758e-05, "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": "Possibly Damaging", "cadd_prediction": 3.667223, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 23886422, "genomic_position_hg38": 23417213, "chromosome": "14", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.711532", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.4459G>A", "protein_change": "p.Ala1487Thr", "transcript_id": "NM_000257.3", "dbsnp_id": "rs766909770", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI571" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1196/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1196/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1196/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1196/gene/?format=api" }, "data": { "type": "Gene", "id": "MYH7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1196/?format=api" } }, { "type": "SmallVariant", "id": "1331", "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": 3.3781, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 23898536, "genomic_position_hg38": 23429327, "chromosome": "14", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.526146", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1159C>T", "protein_change": "p.Leu387Phe", "transcript_id": "NM_000257.3", "dbsnp_id": "rs1555338378", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI606" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1331/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1331/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1331/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1331/gene/?format=api" }, "data": { "type": "Gene", "id": "MYH7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1331/?format=api" } }, { "type": "SmallVariant", "id": "2113", "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": 4.3404, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 23887540, "genomic_position_hg38": 23418331, "chromosome": "14", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.295199", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.4048G>A", "protein_change": "p.Glu1350Lys", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI976" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2113/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2113/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2113/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2113/gene/?format=api" }, "data": { "type": "Gene", "id": "MYH7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2113/?format=api" } }, { "type": "SmallVariant", "id": "2115", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "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": 0.001, "gnomad_maf": 1.193e-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": 0.0, "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": "Possibly Damaging", "cadd_prediction": 3.115348, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 23901869, "genomic_position_hg38": 23432660, "chromosome": "14", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.307611", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.481G>A", "protein_change": "p.Ala161Thr", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI977" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2115/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2115/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2115/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2115/gene/?format=api" }, "data": { "type": "Gene", "id": "MYH7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2115/?format=api" } }, { "type": "SmallVariant", "id": "2575", "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": 1.195e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.893e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.819e-06, "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": "Possibly Damaging", "cadd_prediction": 4.480887, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 23887557, "genomic_position_hg38": 23418348, "chromosome": "14", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.943824", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.4031G>A", "protein_change": "p.Arg1344Gln", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1212" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2575/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2575/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2575/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2575/gene/?format=api" }, "data": { "type": "Gene", "id": "MYH7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2575/?format=api" } }, { "type": "SmallVariant", "id": "3754", "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": 4.35308, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 23893352, "genomic_position_hg38": 23424143, "chromosome": "14", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:37.638801", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.2686G>A", "protein_change": "p.Asp896Asn", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1794" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3754/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3754/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3754/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3754/gene/?format=api" }, "data": { "type": "Gene", "id": "MYH7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3754/?format=api" } }, { "type": "SmallVariant", "id": "3755", "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": 3.718384, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 23897715, "genomic_position_hg38": 23428506, "chromosome": "14", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:37.657114", "ref_allele": "GA", "alt_allele": "TT", "cdna_change": "c.1571_1572delTCinsAA", "protein_change": "p.Ile524Lys", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1794" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3755/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3755/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3755/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3755/gene/?format=api" }, "data": { "type": "Gene", "id": "MYH7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3755/?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": 13 } }