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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 8-144356095-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144356095&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 144356095,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_012162.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "c.1345G>A",
"hgvs_p": "p.Gly449Ser",
"transcript": "NM_012162.4",
"protein_id": "NP_036294.2",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 539,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000331890.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012162.4"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "c.1345G>A",
"hgvs_p": "p.Gly449Ser",
"transcript": "ENST00000331890.6",
"protein_id": "ENSP00000330098.5",
"transcript_support_level": 1,
"aa_start": 449,
"aa_end": null,
"aa_length": 539,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012162.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000331890.6"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "c.1327G>A",
"hgvs_p": "p.Gly443Ser",
"transcript": "ENST00000455319.6",
"protein_id": "ENSP00000403873.2",
"transcript_support_level": 1,
"aa_start": 443,
"aa_end": null,
"aa_length": 533,
"cds_start": 1327,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455319.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "n.2733G>A",
"hgvs_p": null,
"transcript": "ENST00000530142.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000530142.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "c.1327G>A",
"hgvs_p": "p.Gly443Ser",
"transcript": "NM_024555.6",
"protein_id": "NP_078831.4",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 533,
"cds_start": 1327,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024555.6"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "c.1309G>A",
"hgvs_p": "p.Gly437Ser",
"transcript": "ENST00000876698.1",
"protein_id": "ENSP00000546757.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 527,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876698.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "c.1309G>A",
"hgvs_p": "p.Gly437Ser",
"transcript": "ENST00000948084.1",
"protein_id": "ENSP00000618143.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 527,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948084.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "c.1306G>A",
"hgvs_p": "p.Gly436Ser",
"transcript": "ENST00000876699.1",
"protein_id": "ENSP00000546758.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 526,
"cds_start": 1306,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876699.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "c.1303G>A",
"hgvs_p": "p.Gly435Ser",
"transcript": "ENST00000876697.1",
"protein_id": "ENSP00000546756.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 525,
"cds_start": 1303,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876697.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "c.1264G>A",
"hgvs_p": "p.Gly422Ser",
"transcript": "ENST00000913928.1",
"protein_id": "ENSP00000583987.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 512,
"cds_start": 1264,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913928.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "c.1246G>A",
"hgvs_p": "p.Gly416Ser",
"transcript": "ENST00000876696.1",
"protein_id": "ENSP00000546755.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 506,
"cds_start": 1246,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876696.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "c.1231G>A",
"hgvs_p": "p.Gly411Ser",
"transcript": "ENST00000948083.1",
"protein_id": "ENSP00000618142.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 501,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948083.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "c.1213G>A",
"hgvs_p": "p.Gly405Ser",
"transcript": "ENST00000913929.1",
"protein_id": "ENSP00000583988.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 495,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913929.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "c.1186G>A",
"hgvs_p": "p.Gly396Ser",
"transcript": "ENST00000876701.1",
"protein_id": "ENSP00000546760.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 486,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876701.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "c.1168G>A",
"hgvs_p": "p.Gly390Ser",
"transcript": "ENST00000948085.1",
"protein_id": "ENSP00000618144.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 480,
"cds_start": 1168,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948085.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "c.1132G>A",
"hgvs_p": "p.Gly378Ser",
"transcript": "ENST00000913930.1",
"protein_id": "ENSP00000583989.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 468,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913930.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "c.1123G>A",
"hgvs_p": "p.Gly375Ser",
"transcript": "ENST00000876700.1",
"protein_id": "ENSP00000546759.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 465,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876700.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "c.1054G>A",
"hgvs_p": "p.Gly352Ser",
"transcript": "ENST00000913931.1",
"protein_id": "ENSP00000583990.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 442,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913931.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "c.889G>A",
"hgvs_p": "p.Gly297Ser",
"transcript": "ENST00000876702.1",
"protein_id": "ENSP00000546761.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 387,
"cds_start": 889,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876702.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "c.808G>A",
"hgvs_p": "p.Gly270Ser",
"transcript": "ENST00000948086.1",
"protein_id": "ENSP00000618145.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 360,
"cds_start": 808,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948086.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.-462-1156C>T",
"hgvs_p": null,
"transcript": "ENST00000532815.2",
"protein_id": "ENSP00000501933.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 445,
"cds_start": null,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532815.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.-111+712C>T",
"hgvs_p": null,
"transcript": "ENST00000675292.1",
"protein_id": "ENSP00000502652.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 445,
"cds_start": null,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675292.1"
},
{
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"protein_coding": true,
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],
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"biotype": "protein_coding",
"feature": "ENST00000675888.1"
},
{
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"intron_variant"
],
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"transcript": "ENST00000913643.1",
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"biotype": "protein_coding",
"feature": "ENST00000913643.1"
},
{
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"intron_variant"
],
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"biotype": "protein_coding",
"feature": "ENST00000524541.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"feature": "ENST00000524492.5"
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{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
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"gene_symbol": "FBXL6",
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"biotype": "pseudogene",
"feature": "ENST00000527000.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"transcript": "ENST00000526524.5",
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"biotype": "pseudogene",
"feature": "ENST00000526524.5"
},
{
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"strand": true,
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"intron_variant"
],
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"biotype": "pseudogene",
"feature": "ENST00000644270.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"gene_symbol": "FBXL6",
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"transcript": "ENST00000524909.1",
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"biotype": "pseudogene",
"feature": "ENST00000524909.1"
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],
"gene_symbol": "FBXL6",
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"dbsnp": "rs782309690",
"frequency_reference_population": 0.000017360488,
"hom_count_reference_population": 0,
"allele_count_reference_population": 28,
"gnomad_exomes_af": 0.0000116386,
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"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4068477153778076,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.082,
"revel_prediction": "Benign",
"alphamissense_score": 0.1503,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.763,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_012162.4",
"gene_symbol": "FBXL6",
"hgnc_id": 13603,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1345G>A",
"hgvs_p": "p.Gly449Ser"
},
{
"score": -1,
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"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "ENST00000532815.2",
"gene_symbol": "SLC52A2",
"hgnc_id": 30224,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-462-1156C>T",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}