← 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: 12-32638743-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=32638743&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 32638743,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000534526.7",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.2402G>A",
"hgvs_p": "p.Cys801Tyr",
"transcript": "NM_001370298.3",
"protein_id": "NP_001357227.2",
"transcript_support_level": null,
"aa_start": 801,
"aa_end": null,
"aa_length": 903,
"cds_start": 2402,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 2638,
"cdna_end": null,
"cdna_length": 8465,
"mane_select": "ENST00000534526.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.2402G>A",
"hgvs_p": "p.Cys801Tyr",
"transcript": "ENST00000534526.7",
"protein_id": "ENSP00000449273.1",
"transcript_support_level": 5,
"aa_start": 801,
"aa_end": null,
"aa_length": 903,
"cds_start": 2402,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 2638,
"cdna_end": null,
"cdna_length": 8465,
"mane_select": "NM_001370298.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "n.*1383G>A",
"hgvs_p": null,
"transcript": "ENST00000395740.5",
"protein_id": "ENSP00000379089.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "n.*1383G>A",
"hgvs_p": null,
"transcript": "ENST00000395740.5",
"protein_id": "ENSP00000379089.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.2402G>A",
"hgvs_p": "p.Cys801Tyr",
"transcript": "NM_001384126.1",
"protein_id": "NP_001371055.1",
"transcript_support_level": null,
"aa_start": 801,
"aa_end": null,
"aa_length": 887,
"cds_start": 2402,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 2638,
"cdna_end": null,
"cdna_length": 4325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.2246G>A",
"hgvs_p": "p.Cys749Tyr",
"transcript": "NM_001304481.2",
"protein_id": "NP_001291410.1",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 851,
"cds_start": 2246,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 2408,
"cdna_end": null,
"cdna_length": 8235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.2246G>A",
"hgvs_p": "p.Cys749Tyr",
"transcript": "ENST00000531134.7",
"protein_id": "ENSP00000431323.1",
"transcript_support_level": 2,
"aa_start": 749,
"aa_end": null,
"aa_length": 851,
"cds_start": 2246,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 2408,
"cdna_end": null,
"cdna_length": 2924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1991G>A",
"hgvs_p": "p.Cys664Tyr",
"transcript": "NM_001385118.1",
"protein_id": "NP_001372047.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 766,
"cds_start": 1991,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 2413,
"cdna_end": null,
"cdna_length": 8240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1991G>A",
"hgvs_p": "p.Cys664Tyr",
"transcript": "NM_139241.3",
"protein_id": "NP_640334.2",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 766,
"cds_start": 1991,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 2532,
"cdna_end": null,
"cdna_length": 8359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1991G>A",
"hgvs_p": "p.Cys664Tyr",
"transcript": "ENST00000427716.7",
"protein_id": "ENSP00000394487.2",
"transcript_support_level": 2,
"aa_start": 664,
"aa_end": null,
"aa_length": 766,
"cds_start": 1991,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 2540,
"cdna_end": null,
"cdna_length": 7194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1991G>A",
"hgvs_p": "p.Cys664Tyr",
"transcript": "ENST00000525053.6",
"protein_id": "ENSP00000433666.2",
"transcript_support_level": 2,
"aa_start": 664,
"aa_end": null,
"aa_length": 766,
"cds_start": 1991,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 2411,
"cdna_end": null,
"cdna_length": 2925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1991G>A",
"hgvs_p": "p.Cys664Tyr",
"transcript": "ENST00000583694.2",
"protein_id": "ENSP00000462623.2",
"transcript_support_level": 3,
"aa_start": 664,
"aa_end": null,
"aa_length": 766,
"cds_start": 1991,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 2415,
"cdna_end": null,
"cdna_length": 2931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1991G>A",
"hgvs_p": "p.Cys664Tyr",
"transcript": "NM_001384127.1",
"protein_id": "NP_001371056.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 750,
"cds_start": 1991,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 2412,
"cdna_end": null,
"cdna_length": 4099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1991G>A",
"hgvs_p": "p.Cys664Tyr",
"transcript": "NM_001384128.1",
"protein_id": "NP_001371057.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 750,
"cds_start": 1991,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 2413,
"cdna_end": null,
"cdna_length": 4100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1712G>A",
"hgvs_p": "p.Cys571Tyr",
"transcript": "NM_001330373.2",
"protein_id": "NP_001317302.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 673,
"cds_start": 1712,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 2228,
"cdna_end": null,
"cdna_length": 8055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1712G>A",
"hgvs_p": "p.Cys571Tyr",
"transcript": "NM_001330374.2",
"protein_id": "NP_001317303.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 673,
"cds_start": 1712,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 2224,
"cdna_end": null,
"cdna_length": 8051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1712G>A",
"hgvs_p": "p.Cys571Tyr",
"transcript": "NM_001384130.1",
"protein_id": "NP_001371059.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 673,
"cds_start": 1712,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 2229,
"cdna_end": null,
"cdna_length": 8056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1712G>A",
"hgvs_p": "p.Cys571Tyr",
"transcript": "ENST00000546442.5",
"protein_id": "ENSP00000446695.1",
"transcript_support_level": 5,
"aa_start": 571,
"aa_end": null,
"aa_length": 673,
"cds_start": 1712,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 2207,
"cdna_end": null,
"cdna_length": 3503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1712G>A",
"hgvs_p": "p.Cys571Tyr",
"transcript": "ENST00000682739.1",
"protein_id": "ENSP00000507616.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 673,
"cds_start": 1712,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 2946,
"cdna_end": null,
"cdna_length": 3373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1439G>A",
"hgvs_p": "p.Cys480Tyr",
"transcript": "NM_001370297.1",
"protein_id": "NP_001357226.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 582,
"cds_start": 1439,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1720,
"cdna_end": null,
"cdna_length": 7547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1247G>A",
"hgvs_p": "p.Cys416Tyr",
"transcript": "NM_001304483.2",
"protein_id": "NP_001291412.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 471,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 2512,
"cdna_end": null,
"cdna_length": 2702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.959G>A",
"hgvs_p": "p.Cys320Tyr",
"transcript": "NM_001304484.2",
"protein_id": "NP_001291413.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 422,
"cds_start": 959,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 2531,
"cdna_end": null,
"cdna_length": 8358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.803G>A",
"hgvs_p": "p.Cys268Tyr",
"transcript": "ENST00000683182.1",
"protein_id": "ENSP00000507831.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 370,
"cds_start": 803,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1550,
"cdna_end": null,
"cdna_length": 2070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.2459G>A",
"hgvs_p": "p.Cys820Tyr",
"transcript": "XM_047428291.1",
"protein_id": "XP_047284247.1",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 922,
"cds_start": 2459,
"cds_end": null,
"cds_length": 2769,
"cdna_start": 2488,
"cdna_end": null,
"cdna_length": 8315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.2417G>A",
"hgvs_p": "p.Cys806Tyr",
"transcript": "XM_047428292.1",
"protein_id": "XP_047284248.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 908,
"cds_start": 2417,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 2612,
"cdna_end": null,
"cdna_length": 8439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1991G>A",
"hgvs_p": "p.Cys664Tyr",
"transcript": "XM_047428293.1",
"protein_id": "XP_047284249.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 766,
"cds_start": 1991,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 2279,
"cdna_end": null,
"cdna_length": 8106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1712G>A",
"hgvs_p": "p.Cys571Tyr",
"transcript": "XM_047428294.1",
"protein_id": "XP_047284250.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 673,
"cds_start": 1712,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 2430,
"cdna_end": null,
"cdna_length": 8257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1712G>A",
"hgvs_p": "p.Cys571Tyr",
"transcript": "XM_047428295.1",
"protein_id": "XP_047284251.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 673,
"cds_start": 1712,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 2308,
"cdna_end": null,
"cdna_length": 8135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1712G>A",
"hgvs_p": "p.Cys571Tyr",
"transcript": "XM_047428296.1",
"protein_id": "XP_047284252.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 673,
"cds_start": 1712,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 2107,
"cdna_end": null,
"cdna_length": 7934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1439G>A",
"hgvs_p": "p.Cys480Tyr",
"transcript": "XM_047428297.1",
"protein_id": "XP_047284253.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 582,
"cds_start": 1439,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1598,
"cdna_end": null,
"cdna_length": 7425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1394G>A",
"hgvs_p": "p.Cys465Tyr",
"transcript": "XM_011520558.3",
"protein_id": "XP_011518860.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 567,
"cds_start": 1394,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1472,
"cdna_end": null,
"cdna_length": 7299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1247G>A",
"hgvs_p": "p.Cys416Tyr",
"transcript": "XM_005253310.5",
"protein_id": "XP_005253367.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 518,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1323,
"cdna_end": null,
"cdna_length": 7150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1226G>A",
"hgvs_p": "p.Cys409Tyr",
"transcript": "XM_011520559.4",
"protein_id": "XP_011518861.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 511,
"cds_start": 1226,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 7139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "n.*1402G>A",
"hgvs_p": null,
"transcript": "ENST00000493087.5",
"protein_id": "ENSP00000437109.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "n.*1682G>A",
"hgvs_p": null,
"transcript": "ENST00000494977.1",
"protein_id": "ENSP00000434062.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "n.*1360G>A",
"hgvs_p": null,
"transcript": "ENST00000551984.5",
"protein_id": "ENSP00000449614.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "n.789G>A",
"hgvs_p": null,
"transcript": "ENST00000684033.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "n.*1402G>A",
"hgvs_p": null,
"transcript": "ENST00000493087.5",
"protein_id": "ENSP00000437109.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "n.*1682G>A",
"hgvs_p": null,
"transcript": "ENST00000494977.1",
"protein_id": "ENSP00000434062.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "n.*1360G>A",
"hgvs_p": null,
"transcript": "ENST00000551984.5",
"protein_id": "ENSP00000449614.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"dbsnp": "rs749404822",
"frequency_reference_population": 0.0000024782041,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000205215,
"gnomad_genomes_af": 0.00000657073,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8250647783279419,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.4000000059604645,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.358,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9025,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.342,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.4,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000534526.7",
"gene_symbol": "FGD4",
"hgnc_id": 19125,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2402G>A",
"hgvs_p": "p.Cys801Tyr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}