← Back to variant description
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: 8-144356148-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144356148&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 144356148,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_012162.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "I",
"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.1292G>T",
"hgvs_p": "p.Ser431Ile",
"transcript": "NM_012162.4",
"protein_id": "NP_036294.2",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 539,
"cds_start": 1292,
"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": "S",
"aa_alt": "I",
"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.1292G>T",
"hgvs_p": "p.Ser431Ile",
"transcript": "ENST00000331890.6",
"protein_id": "ENSP00000330098.5",
"transcript_support_level": 1,
"aa_start": 431,
"aa_end": null,
"aa_length": 539,
"cds_start": 1292,
"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": "S",
"aa_alt": "I",
"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.1274G>T",
"hgvs_p": "p.Ser425Ile",
"transcript": "ENST00000455319.6",
"protein_id": "ENSP00000403873.2",
"transcript_support_level": 1,
"aa_start": 425,
"aa_end": null,
"aa_length": 533,
"cds_start": 1274,
"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.2680G>T",
"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": "S",
"aa_alt": "I",
"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.1274G>T",
"hgvs_p": "p.Ser425Ile",
"transcript": "NM_024555.6",
"protein_id": "NP_078831.4",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 533,
"cds_start": 1274,
"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": "S",
"aa_alt": "I",
"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.1256G>T",
"hgvs_p": "p.Ser419Ile",
"transcript": "ENST00000876698.1",
"protein_id": "ENSP00000546757.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 527,
"cds_start": 1256,
"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": "S",
"aa_alt": "I",
"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.1256G>T",
"hgvs_p": "p.Ser419Ile",
"transcript": "ENST00000948084.1",
"protein_id": "ENSP00000618143.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 527,
"cds_start": 1256,
"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": "S",
"aa_alt": "I",
"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.1253G>T",
"hgvs_p": "p.Ser418Ile",
"transcript": "ENST00000876699.1",
"protein_id": "ENSP00000546758.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 526,
"cds_start": 1253,
"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": "S",
"aa_alt": "I",
"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.1250G>T",
"hgvs_p": "p.Ser417Ile",
"transcript": "ENST00000876697.1",
"protein_id": "ENSP00000546756.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 525,
"cds_start": 1250,
"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": "S",
"aa_alt": "I",
"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.1211G>T",
"hgvs_p": "p.Ser404Ile",
"transcript": "ENST00000913928.1",
"protein_id": "ENSP00000583987.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 512,
"cds_start": 1211,
"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": "S",
"aa_alt": "I",
"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.1193G>T",
"hgvs_p": "p.Ser398Ile",
"transcript": "ENST00000876696.1",
"protein_id": "ENSP00000546755.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 506,
"cds_start": 1193,
"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": "S",
"aa_alt": "I",
"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.1178G>T",
"hgvs_p": "p.Ser393Ile",
"transcript": "ENST00000948083.1",
"protein_id": "ENSP00000618142.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 501,
"cds_start": 1178,
"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": "S",
"aa_alt": "I",
"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.1160G>T",
"hgvs_p": "p.Ser387Ile",
"transcript": "ENST00000913929.1",
"protein_id": "ENSP00000583988.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 495,
"cds_start": 1160,
"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": "S",
"aa_alt": "I",
"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.1133G>T",
"hgvs_p": "p.Ser378Ile",
"transcript": "ENST00000876701.1",
"protein_id": "ENSP00000546760.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 486,
"cds_start": 1133,
"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": "S",
"aa_alt": "I",
"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.1115G>T",
"hgvs_p": "p.Ser372Ile",
"transcript": "ENST00000948085.1",
"protein_id": "ENSP00000618144.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 480,
"cds_start": 1115,
"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": "S",
"aa_alt": "I",
"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.1079G>T",
"hgvs_p": "p.Ser360Ile",
"transcript": "ENST00000913930.1",
"protein_id": "ENSP00000583989.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 468,
"cds_start": 1079,
"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": "S",
"aa_alt": "I",
"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.1070G>T",
"hgvs_p": "p.Ser357Ile",
"transcript": "ENST00000876700.1",
"protein_id": "ENSP00000546759.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 465,
"cds_start": 1070,
"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": "S",
"aa_alt": "I",
"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.1001G>T",
"hgvs_p": "p.Ser334Ile",
"transcript": "ENST00000913931.1",
"protein_id": "ENSP00000583990.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 442,
"cds_start": 1001,
"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": "S",
"aa_alt": "I",
"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.836G>T",
"hgvs_p": "p.Ser279Ile",
"transcript": "ENST00000876702.1",
"protein_id": "ENSP00000546761.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 387,
"cds_start": 836,
"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": "S",
"aa_alt": "I",
"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.755G>T",
"hgvs_p": "p.Ser252Ile",
"transcript": "ENST00000948086.1",
"protein_id": "ENSP00000618145.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 360,
"cds_start": 755,
"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.-462-1103C>A",
"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+765C>A",
"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"
},
{
"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.-110-3036C>A",
"hgvs_p": null,
"transcript": "ENST00000675888.1",
"protein_id": "ENSP00000502294.1",
"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": "ENST00000675888.1"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.-111+1458C>A",
"hgvs_p": null,
"transcript": "ENST00000876534.1",
"protein_id": "ENSP00000546593.1",
"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": "ENST00000876534.1"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.-107+1458C>A",
"hgvs_p": null,
"transcript": "ENST00000913643.1",
"protein_id": "ENSP00000583702.1",
"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": "ENST00000913643.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.-111+1837C>A",
"hgvs_p": null,
"transcript": "ENST00000524541.5",
"protein_id": "ENSP00000434239.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 68,
"cds_start": null,
"cds_end": null,
"cds_length": 208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524541.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "n.1579G>T",
"hgvs_p": null,
"transcript": "ENST00000524492.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000524492.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "n.478G>T",
"hgvs_p": null,
"transcript": "ENST00000524909.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000524909.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "n.544G>T",
"hgvs_p": null,
"transcript": "ENST00000527000.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000527000.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "n.533+152G>T",
"hgvs_p": null,
"transcript": "ENST00000526524.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000526524.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "n.194-1103C>A",
"hgvs_p": null,
"transcript": "ENST00000644270.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000644270.1"
}
],
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"dbsnp": "rs1554852706",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6461333632469177,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.094,
"revel_prediction": "Benign",
"alphamissense_score": 0.2018,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.314,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_012162.4",
"gene_symbol": "FBXL6",
"hgnc_id": 13603,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1292G>T",
"hgvs_p": "p.Ser431Ile"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000532815.2",
"gene_symbol": "SLC52A2",
"hgnc_id": 30224,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-462-1103C>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}