← 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: 12-32633649-TCA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=32633649&ref=TCA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 32633649,
"ref": "TCA",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "NM_001370298.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.2276_2277delCA",
"hgvs_p": "p.Thr759fs",
"transcript": "NM_001370298.3",
"protein_id": "NP_001357227.2",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 903,
"cds_start": 2276,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000534526.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370298.3"
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.2276_2277delCA",
"hgvs_p": "p.Thr759fs",
"transcript": "ENST00000534526.7",
"protein_id": "ENSP00000449273.1",
"transcript_support_level": 5,
"aa_start": 759,
"aa_end": null,
"aa_length": 903,
"cds_start": 2276,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001370298.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534526.7"
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "n.*1257_*1258delCA",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000395740.5"
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "n.*1257_*1258delCA",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000395740.5"
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.2276_2277delCA",
"hgvs_p": "p.Thr759fs",
"transcript": "NM_001384126.1",
"protein_id": "NP_001371055.1",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 887,
"cds_start": 2276,
"cds_end": null,
"cds_length": 2664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384126.1"
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.2120_2121delCA",
"hgvs_p": "p.Thr707fs",
"transcript": "NM_001304481.2",
"protein_id": "NP_001291410.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 851,
"cds_start": 2120,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304481.2"
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.2120_2121delCA",
"hgvs_p": "p.Thr707fs",
"transcript": "ENST00000531134.7",
"protein_id": "ENSP00000431323.1",
"transcript_support_level": 2,
"aa_start": 707,
"aa_end": null,
"aa_length": 851,
"cds_start": 2120,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531134.7"
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1865_1866delCA",
"hgvs_p": "p.Thr622fs",
"transcript": "NM_001385118.1",
"protein_id": "NP_001372047.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 766,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385118.1"
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1865_1866delCA",
"hgvs_p": "p.Thr622fs",
"transcript": "NM_139241.3",
"protein_id": "NP_640334.2",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 766,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139241.3"
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1865_1866delCA",
"hgvs_p": "p.Thr622fs",
"transcript": "ENST00000427716.7",
"protein_id": "ENSP00000394487.2",
"transcript_support_level": 2,
"aa_start": 622,
"aa_end": null,
"aa_length": 766,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427716.7"
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1865_1866delCA",
"hgvs_p": "p.Thr622fs",
"transcript": "ENST00000525053.6",
"protein_id": "ENSP00000433666.2",
"transcript_support_level": 2,
"aa_start": 622,
"aa_end": null,
"aa_length": 766,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525053.6"
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1865_1866delCA",
"hgvs_p": "p.Thr622fs",
"transcript": "ENST00000583694.2",
"protein_id": "ENSP00000462623.2",
"transcript_support_level": 3,
"aa_start": 622,
"aa_end": null,
"aa_length": 766,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000583694.2"
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1865_1866delCA",
"hgvs_p": "p.Thr622fs",
"transcript": "NM_001384127.1",
"protein_id": "NP_001371056.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 750,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384127.1"
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1865_1866delCA",
"hgvs_p": "p.Thr622fs",
"transcript": "NM_001384128.1",
"protein_id": "NP_001371057.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 750,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384128.1"
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1586_1587delCA",
"hgvs_p": "p.Thr529fs",
"transcript": "NM_001330373.2",
"protein_id": "NP_001317302.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 673,
"cds_start": 1586,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330373.2"
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1586_1587delCA",
"hgvs_p": "p.Thr529fs",
"transcript": "NM_001330374.2",
"protein_id": "NP_001317303.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 673,
"cds_start": 1586,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330374.2"
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1586_1587delCA",
"hgvs_p": "p.Thr529fs",
"transcript": "NM_001384130.1",
"protein_id": "NP_001371059.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 673,
"cds_start": 1586,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384130.1"
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1586_1587delCA",
"hgvs_p": "p.Thr529fs",
"transcript": "ENST00000546442.5",
"protein_id": "ENSP00000446695.1",
"transcript_support_level": 5,
"aa_start": 529,
"aa_end": null,
"aa_length": 673,
"cds_start": 1586,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546442.5"
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1586_1587delCA",
"hgvs_p": "p.Thr529fs",
"transcript": "ENST00000682739.1",
"protein_id": "ENSP00000507616.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 673,
"cds_start": 1586,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682739.1"
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1313_1314delCA",
"hgvs_p": "p.Thr438fs",
"transcript": "NM_001370297.1",
"protein_id": "NP_001357226.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 582,
"cds_start": 1313,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370297.1"
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1121_1122delCA",
"hgvs_p": "p.Thr374fs",
"transcript": "NM_001304483.2",
"protein_id": "NP_001291412.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 471,
"cds_start": 1121,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304483.2"
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.833_834delCA",
"hgvs_p": "p.Thr278fs",
"transcript": "NM_001304484.2",
"protein_id": "NP_001291413.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 422,
"cds_start": 833,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304484.2"
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.677_678delCA",
"hgvs_p": "p.Thr226fs",
"transcript": "ENST00000683182.1",
"protein_id": "ENSP00000507831.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 370,
"cds_start": 677,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683182.1"
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.2333_2334delCA",
"hgvs_p": "p.Thr778fs",
"transcript": "XM_047428291.1",
"protein_id": "XP_047284247.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 922,
"cds_start": 2333,
"cds_end": null,
"cds_length": 2769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428291.1"
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.2291_2292delCA",
"hgvs_p": "p.Thr764fs",
"transcript": "XM_047428292.1",
"protein_id": "XP_047284248.1",
"transcript_support_level": null,
"aa_start": 764,
"aa_end": null,
"aa_length": 908,
"cds_start": 2291,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428292.1"
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1865_1866delCA",
"hgvs_p": "p.Thr622fs",
"transcript": "XM_047428293.1",
"protein_id": "XP_047284249.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 766,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428293.1"
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1586_1587delCA",
"hgvs_p": "p.Thr529fs",
"transcript": "XM_047428294.1",
"protein_id": "XP_047284250.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 673,
"cds_start": 1586,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428294.1"
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1586_1587delCA",
"hgvs_p": "p.Thr529fs",
"transcript": "XM_047428295.1",
"protein_id": "XP_047284251.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 673,
"cds_start": 1586,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428295.1"
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1586_1587delCA",
"hgvs_p": "p.Thr529fs",
"transcript": "XM_047428296.1",
"protein_id": "XP_047284252.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 673,
"cds_start": 1586,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428296.1"
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1313_1314delCA",
"hgvs_p": "p.Thr438fs",
"transcript": "XM_047428297.1",
"protein_id": "XP_047284253.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 582,
"cds_start": 1313,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428297.1"
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1268_1269delCA",
"hgvs_p": "p.Thr423fs",
"transcript": "XM_011520558.3",
"protein_id": "XP_011518860.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 567,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520558.3"
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1121_1122delCA",
"hgvs_p": "p.Thr374fs",
"transcript": "XM_005253310.5",
"protein_id": "XP_005253367.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 518,
"cds_start": 1121,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005253310.5"
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1100_1101delCA",
"hgvs_p": "p.Thr367fs",
"transcript": "XM_011520559.4",
"protein_id": "XP_011518861.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 511,
"cds_start": 1100,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520559.4"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "n.*1276_*1277delCA",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000493087.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "n.*1350_*1351delCA",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000494977.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "n.*1234_*1235delCA",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000551984.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "n.663_664delCA",
"hgvs_p": null,
"transcript": "ENST00000684033.1",
"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": "retained_intron",
"feature": "ENST00000684033.1"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "n.*1276_*1277delCA",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000493087.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "n.*1350_*1351delCA",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000494977.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "n.*1234_*1235delCA",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000551984.5"
}
],
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"dbsnp": "rs1555223595",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.643,
"phylop100way_prediction": "Benign",
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_001370298.3",
"gene_symbol": "FGD4",
"hgnc_id": 19125,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2276_2277delCA",
"hgvs_p": "p.Thr759fs"
}
],
"clinvar_disease": "Charcot-Marie-Tooth disease type 4",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Charcot-Marie-Tooth disease type 4",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}