← 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: 12-112140995-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=112140995&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 112140995,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_006700.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "c.414G>A",
"hgvs_p": "p.Glu138Glu",
"transcript": "NM_006700.3",
"protein_id": "NP_006691.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 582,
"cds_start": 414,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000412615.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006700.3"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "c.414G>A",
"hgvs_p": "p.Glu138Glu",
"transcript": "ENST00000412615.7",
"protein_id": "ENSP00000396526.2",
"transcript_support_level": 1,
"aa_start": 138,
"aa_end": null,
"aa_length": 582,
"cds_start": 414,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006700.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412615.7"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "n.507G>A",
"hgvs_p": null,
"transcript": "ENST00000550051.5",
"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": "ENST00000550051.5"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "c.414G>A",
"hgvs_p": "p.Glu138Glu",
"transcript": "ENST00000880370.1",
"protein_id": "ENSP00000550429.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 591,
"cds_start": 414,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880370.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "c.414G>A",
"hgvs_p": "p.Glu138Glu",
"transcript": "NM_001143906.2",
"protein_id": "NP_001137378.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 582,
"cds_start": 414,
"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_001143906.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "c.414G>A",
"hgvs_p": "p.Glu138Glu",
"transcript": "ENST00000257604.9",
"protein_id": "ENSP00000257604.5",
"transcript_support_level": 2,
"aa_start": 138,
"aa_end": null,
"aa_length": 582,
"cds_start": 414,
"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": "ENST00000257604.9"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "c.414G>A",
"hgvs_p": "p.Glu138Glu",
"transcript": "ENST00000880364.1",
"protein_id": "ENSP00000550423.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 582,
"cds_start": 414,
"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": "ENST00000880364.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "c.414G>A",
"hgvs_p": "p.Glu138Glu",
"transcript": "ENST00000880366.1",
"protein_id": "ENSP00000550425.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 582,
"cds_start": 414,
"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": "ENST00000880366.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "c.414G>A",
"hgvs_p": "p.Glu138Glu",
"transcript": "ENST00000880368.1",
"protein_id": "ENSP00000550427.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 582,
"cds_start": 414,
"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": "ENST00000880368.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "c.414G>A",
"hgvs_p": "p.Glu138Glu",
"transcript": "ENST00000880371.1",
"protein_id": "ENSP00000550430.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 582,
"cds_start": 414,
"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": "ENST00000880371.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "c.414G>A",
"hgvs_p": "p.Glu138Glu",
"transcript": "ENST00000917400.1",
"protein_id": "ENSP00000587459.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 582,
"cds_start": 414,
"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": "ENST00000917400.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "c.414G>A",
"hgvs_p": "p.Glu138Glu",
"transcript": "ENST00000964247.1",
"protein_id": "ENSP00000634306.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 582,
"cds_start": 414,
"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": "ENST00000964247.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "c.414G>A",
"hgvs_p": "p.Glu138Glu",
"transcript": "ENST00000964251.1",
"protein_id": "ENSP00000634310.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 582,
"cds_start": 414,
"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": "ENST00000964251.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "c.414G>A",
"hgvs_p": "p.Glu138Glu",
"transcript": "ENST00000964253.1",
"protein_id": "ENSP00000634312.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 582,
"cds_start": 414,
"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": "ENST00000964253.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "c.414G>A",
"hgvs_p": "p.Glu138Glu",
"transcript": "ENST00000880367.1",
"protein_id": "ENSP00000550426.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 581,
"cds_start": 414,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880367.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "c.411G>A",
"hgvs_p": "p.Glu137Glu",
"transcript": "ENST00000964252.1",
"protein_id": "ENSP00000634311.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 581,
"cds_start": 411,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964252.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "c.411G>A",
"hgvs_p": "p.Glu137Glu",
"transcript": "ENST00000964254.1",
"protein_id": "ENSP00000634313.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 581,
"cds_start": 411,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964254.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "c.414G>A",
"hgvs_p": "p.Glu138Glu",
"transcript": "ENST00000880365.1",
"protein_id": "ENSP00000550424.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 580,
"cds_start": 414,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880365.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "c.414G>A",
"hgvs_p": "p.Glu138Glu",
"transcript": "ENST00000880369.1",
"protein_id": "ENSP00000550428.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 580,
"cds_start": 414,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880369.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "c.414G>A",
"hgvs_p": "p.Glu138Glu",
"transcript": "ENST00000880372.1",
"protein_id": "ENSP00000550431.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 580,
"cds_start": 414,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880372.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "c.414G>A",
"hgvs_p": "p.Glu138Glu",
"transcript": "ENST00000964250.1",
"protein_id": "ENSP00000634309.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 580,
"cds_start": 414,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964250.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "c.414G>A",
"hgvs_p": "p.Glu138Glu",
"transcript": "ENST00000917399.1",
"protein_id": "ENSP00000587458.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 547,
"cds_start": 414,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917399.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "c.414G>A",
"hgvs_p": "p.Glu138Glu",
"transcript": "ENST00000917401.1",
"protein_id": "ENSP00000587460.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 547,
"cds_start": 414,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917401.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "c.414G>A",
"hgvs_p": "p.Glu138Glu",
"transcript": "ENST00000917398.1",
"protein_id": "ENSP00000587457.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 513,
"cds_start": 414,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917398.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "c.414G>A",
"hgvs_p": "p.Glu138Glu",
"transcript": "ENST00000964249.1",
"protein_id": "ENSP00000634308.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 512,
"cds_start": 414,
"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": "ENST00000964249.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "c.414G>A",
"hgvs_p": "p.Glu138Glu",
"transcript": "ENST00000964248.1",
"protein_id": "ENSP00000634307.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 505,
"cds_start": 414,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964248.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "c.414G>A",
"hgvs_p": "p.Glu138Glu",
"transcript": "ENST00000552896.1",
"protein_id": "ENSP00000450357.1",
"transcript_support_level": 3,
"aa_start": 138,
"aa_end": null,
"aa_length": 282,
"cds_start": 414,
"cds_end": null,
"cds_length": 850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552896.1"
},
{
"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": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "n.*216G>A",
"hgvs_p": null,
"transcript": "ENST00000547063.5",
"protein_id": "ENSP00000449297.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000547063.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "n.*216G>A",
"hgvs_p": null,
"transcript": "ENST00000547063.5",
"protein_id": "ENSP00000449297.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000547063.5"
},
{
"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": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "n.399+15G>A",
"hgvs_p": null,
"transcript": "ENST00000552890.5",
"protein_id": "ENSP00000447340.1",
"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": "ENST00000552890.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "c.*9G>A",
"hgvs_p": null,
"transcript": "ENST00000549358.5",
"protein_id": "ENSP00000449319.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 134,
"cds_start": null,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549358.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "c.*85G>A",
"hgvs_p": null,
"transcript": "ENST00000548092.5",
"protein_id": "ENSP00000473800.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 71,
"cds_start": null,
"cds_end": null,
"cds_length": 218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548092.5"
}
],
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"dbsnp": "rs149081968",
"frequency_reference_population": 0.0000020521325,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205213,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8100000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.25,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.248,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.25,
"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": 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_006700.3",
"gene_symbol": "TRAFD1",
"hgnc_id": 24808,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.414G>A",
"hgvs_p": "p.Glu138Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}