← 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: 12-32582406-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=32582406&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 32582406,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000534526.7",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.950A>G",
"hgvs_p": "p.Glu317Gly",
"transcript": "NM_001370298.3",
"protein_id": "NP_001357227.2",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 903,
"cds_start": 950,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 8465,
"mane_select": "ENST00000534526.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.950A>G",
"hgvs_p": "p.Glu317Gly",
"transcript": "ENST00000534526.7",
"protein_id": "ENSP00000449273.1",
"transcript_support_level": 5,
"aa_start": 317,
"aa_end": null,
"aa_length": 903,
"cds_start": 950,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 1186,
"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": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "n.539A>G",
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "n.890A>G",
"hgvs_p": null,
"transcript": "ENST00000494275.5",
"protein_id": null,
"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": 1439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.950A>G",
"hgvs_p": "p.Glu317Gly",
"transcript": "NM_001384126.1",
"protein_id": "NP_001371055.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 887,
"cds_start": 950,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 4325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.794A>G",
"hgvs_p": "p.Glu265Gly",
"transcript": "NM_001304481.2",
"protein_id": "NP_001291410.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 851,
"cds_start": 794,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 956,
"cdna_end": null,
"cdna_length": 8235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.794A>G",
"hgvs_p": "p.Glu265Gly",
"transcript": "ENST00000531134.7",
"protein_id": "ENSP00000431323.1",
"transcript_support_level": 2,
"aa_start": 265,
"aa_end": null,
"aa_length": 851,
"cds_start": 794,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 956,
"cdna_end": null,
"cdna_length": 2924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.539A>G",
"hgvs_p": "p.Glu180Gly",
"transcript": "NM_001385118.1",
"protein_id": "NP_001372047.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 766,
"cds_start": 539,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 8240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.539A>G",
"hgvs_p": "p.Glu180Gly",
"transcript": "NM_139241.3",
"protein_id": "NP_640334.2",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 766,
"cds_start": 539,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 1080,
"cdna_end": null,
"cdna_length": 8359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.539A>G",
"hgvs_p": "p.Glu180Gly",
"transcript": "ENST00000427716.7",
"protein_id": "ENSP00000394487.2",
"transcript_support_level": 2,
"aa_start": 180,
"aa_end": null,
"aa_length": 766,
"cds_start": 539,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 1088,
"cdna_end": null,
"cdna_length": 7194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.539A>G",
"hgvs_p": "p.Glu180Gly",
"transcript": "ENST00000525053.6",
"protein_id": "ENSP00000433666.2",
"transcript_support_level": 2,
"aa_start": 180,
"aa_end": null,
"aa_length": 766,
"cds_start": 539,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 959,
"cdna_end": null,
"cdna_length": 2925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.539A>G",
"hgvs_p": "p.Glu180Gly",
"transcript": "ENST00000583694.2",
"protein_id": "ENSP00000462623.2",
"transcript_support_level": 3,
"aa_start": 180,
"aa_end": null,
"aa_length": 766,
"cds_start": 539,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 963,
"cdna_end": null,
"cdna_length": 2931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.539A>G",
"hgvs_p": "p.Glu180Gly",
"transcript": "NM_001384127.1",
"protein_id": "NP_001371056.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 750,
"cds_start": 539,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 960,
"cdna_end": null,
"cdna_length": 4099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.539A>G",
"hgvs_p": "p.Glu180Gly",
"transcript": "NM_001384128.1",
"protein_id": "NP_001371057.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 750,
"cds_start": 539,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 4100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.260A>G",
"hgvs_p": "p.Glu87Gly",
"transcript": "NM_001330373.2",
"protein_id": "NP_001317302.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 673,
"cds_start": 260,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 776,
"cdna_end": null,
"cdna_length": 8055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.260A>G",
"hgvs_p": "p.Glu87Gly",
"transcript": "NM_001330374.2",
"protein_id": "NP_001317303.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 673,
"cds_start": 260,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 772,
"cdna_end": null,
"cdna_length": 8051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.260A>G",
"hgvs_p": "p.Glu87Gly",
"transcript": "NM_001384130.1",
"protein_id": "NP_001371059.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 673,
"cds_start": 260,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 777,
"cdna_end": null,
"cdna_length": 8056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.260A>G",
"hgvs_p": "p.Glu87Gly",
"transcript": "ENST00000546442.5",
"protein_id": "ENSP00000446695.1",
"transcript_support_level": 5,
"aa_start": 87,
"aa_end": null,
"aa_length": 673,
"cds_start": 260,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 755,
"cdna_end": null,
"cdna_length": 3503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.260A>G",
"hgvs_p": "p.Glu87Gly",
"transcript": "ENST00000682739.1",
"protein_id": "ENSP00000507616.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 673,
"cds_start": 260,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 1494,
"cdna_end": null,
"cdna_length": 3373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.539A>G",
"hgvs_p": "p.Glu180Gly",
"transcript": "NM_001384131.1",
"protein_id": "NP_001371060.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 207,
"cds_start": 539,
"cds_end": null,
"cds_length": 624,
"cdna_start": 960,
"cdna_end": null,
"cdna_length": 1509,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.539A>G",
"hgvs_p": "p.Glu180Gly",
"transcript": "NM_001384132.1",
"protein_id": "NP_001371061.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 207,
"cds_start": 539,
"cds_end": null,
"cds_length": 624,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 1510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.539A>G",
"hgvs_p": "p.Glu180Gly",
"transcript": "ENST00000472289.5",
"protein_id": "ENSP00000434356.1",
"transcript_support_level": 2,
"aa_start": 180,
"aa_end": null,
"aa_length": 207,
"cds_start": 539,
"cds_end": null,
"cds_length": 624,
"cdna_start": 1080,
"cdna_end": null,
"cdna_length": 1629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1007A>G",
"hgvs_p": "p.Glu336Gly",
"transcript": "XM_047428291.1",
"protein_id": "XP_047284247.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 922,
"cds_start": 1007,
"cds_end": null,
"cds_length": 2769,
"cdna_start": 1036,
"cdna_end": null,
"cdna_length": 8315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.965A>G",
"hgvs_p": "p.Glu322Gly",
"transcript": "XM_047428292.1",
"protein_id": "XP_047284248.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 908,
"cds_start": 965,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 1160,
"cdna_end": null,
"cdna_length": 8439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.539A>G",
"hgvs_p": "p.Glu180Gly",
"transcript": "XM_047428293.1",
"protein_id": "XP_047284249.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 766,
"cds_start": 539,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 827,
"cdna_end": null,
"cdna_length": 8106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.260A>G",
"hgvs_p": "p.Glu87Gly",
"transcript": "XM_047428294.1",
"protein_id": "XP_047284250.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 673,
"cds_start": 260,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 978,
"cdna_end": null,
"cdna_length": 8257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.260A>G",
"hgvs_p": "p.Glu87Gly",
"transcript": "XM_047428295.1",
"protein_id": "XP_047284251.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 673,
"cds_start": 260,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 856,
"cdna_end": null,
"cdna_length": 8135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.260A>G",
"hgvs_p": "p.Glu87Gly",
"transcript": "XM_047428296.1",
"protein_id": "XP_047284252.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 673,
"cds_start": 260,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 655,
"cdna_end": null,
"cdna_length": 7934,
"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": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "n.539A>G",
"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": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "n.26A>G",
"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": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "n.46A>G",
"hgvs_p": null,
"transcript": "ENST00000683515.1",
"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": 1671,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "n.776A>G",
"hgvs_p": null,
"transcript": "NR_168884.1",
"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": 1325,
"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": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "n.1186A>G",
"hgvs_p": null,
"transcript": "XR_001748576.2",
"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": 1857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.-306A>G",
"hgvs_p": null,
"transcript": "NM_001304483.2",
"protein_id": "NP_001291412.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 471,
"cds_start": -4,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.-613A>G",
"hgvs_p": null,
"transcript": "NM_001304484.2",
"protein_id": "NP_001291413.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 422,
"cds_start": -4,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.49-16091A>G",
"hgvs_p": null,
"transcript": "NM_001370297.1",
"protein_id": "NP_001357226.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 582,
"cds_start": -4,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.-449-16091A>G",
"hgvs_p": null,
"transcript": "ENST00000683182.1",
"protein_id": "ENSP00000507831.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 370,
"cds_start": -4,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "n.92+5957A>G",
"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": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.49-16091A>G",
"hgvs_p": null,
"transcript": "XM_047428297.1",
"protein_id": "XP_047284253.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 582,
"cds_start": -4,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "n.*155A>G",
"hgvs_p": null,
"transcript": "ENST00000550091.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"dbsnp": "rs1452437045",
"frequency_reference_population": 0.000017103537,
"hom_count_reference_population": 0,
"allele_count_reference_population": 25,
"gnomad_exomes_af": 0.0000171035,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14720791578292847,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.249,
"revel_prediction": "Benign",
"alphamissense_score": 0.0692,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.693,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000534526.7",
"gene_symbol": "FGD4",
"hgnc_id": 19125,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.950A>G",
"hgvs_p": "p.Glu317Gly"
}
],
"clinvar_disease": "Charcot-Marie-Tooth disease type 4",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Charcot-Marie-Tooth disease type 4",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}