← 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: 4-40243500-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=40243500&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 40243500,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_004310.5",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.114C>T",
"hgvs_p": "p.Tyr38Tyr",
"transcript": "NM_004310.5",
"protein_id": "NP_004301.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 191,
"cds_start": 114,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000381799.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004310.5"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.114C>T",
"hgvs_p": "p.Tyr38Tyr",
"transcript": "ENST00000381799.10",
"protein_id": "ENSP00000371219.4",
"transcript_support_level": 1,
"aa_start": 38,
"aa_end": null,
"aa_length": 191,
"cds_start": 114,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004310.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381799.10"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.114C>T",
"hgvs_p": "p.Tyr38Tyr",
"transcript": "NM_001278359.2",
"protein_id": "NP_001265288.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 191,
"cds_start": 114,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278359.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.114C>T",
"hgvs_p": "p.Tyr38Tyr",
"transcript": "NM_001278360.2",
"protein_id": "NP_001265289.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 191,
"cds_start": 114,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278360.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.114C>T",
"hgvs_p": "p.Tyr38Tyr",
"transcript": "NM_001278361.2",
"protein_id": "NP_001265290.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 191,
"cds_start": 114,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278361.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.114C>T",
"hgvs_p": "p.Tyr38Tyr",
"transcript": "NM_001278362.2",
"protein_id": "NP_001265291.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 191,
"cds_start": 114,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278362.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.114C>T",
"hgvs_p": "p.Tyr38Tyr",
"transcript": "NM_001278363.2",
"protein_id": "NP_001265292.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 191,
"cds_start": 114,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278363.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.114C>T",
"hgvs_p": "p.Tyr38Tyr",
"transcript": "NM_001278364.2",
"protein_id": "NP_001265293.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 191,
"cds_start": 114,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278364.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.114C>T",
"hgvs_p": "p.Tyr38Tyr",
"transcript": "NM_001278365.2",
"protein_id": "NP_001265294.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 191,
"cds_start": 114,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278365.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.114C>T",
"hgvs_p": "p.Tyr38Tyr",
"transcript": "NM_001278366.2",
"protein_id": "NP_001265295.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 191,
"cds_start": 114,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278366.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.114C>T",
"hgvs_p": "p.Tyr38Tyr",
"transcript": "NM_001278367.2",
"protein_id": "NP_001265296.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 191,
"cds_start": 114,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278367.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.114C>T",
"hgvs_p": "p.Tyr38Tyr",
"transcript": "NM_001278368.2",
"protein_id": "NP_001265297.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 191,
"cds_start": 114,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278368.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.114C>T",
"hgvs_p": "p.Tyr38Tyr",
"transcript": "NM_001278369.2",
"protein_id": "NP_001265298.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 191,
"cds_start": 114,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278369.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.114C>T",
"hgvs_p": "p.Tyr38Tyr",
"transcript": "NM_001440378.1",
"protein_id": "NP_001427307.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 191,
"cds_start": 114,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440378.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.114C>T",
"hgvs_p": "p.Tyr38Tyr",
"transcript": "ENST00000503754.6",
"protein_id": "ENSP00000514769.1",
"transcript_support_level": 4,
"aa_start": 38,
"aa_end": null,
"aa_length": 191,
"cds_start": 114,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503754.6"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.114C>T",
"hgvs_p": "p.Tyr38Tyr",
"transcript": "ENST00000503941.6",
"protein_id": "ENSP00000426439.2",
"transcript_support_level": 2,
"aa_start": 38,
"aa_end": null,
"aa_length": 191,
"cds_start": 114,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503941.6"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.114C>T",
"hgvs_p": "p.Tyr38Tyr",
"transcript": "ENST00000503978.2",
"protein_id": "ENSP00000514775.1",
"transcript_support_level": 4,
"aa_start": 38,
"aa_end": null,
"aa_length": 191,
"cds_start": 114,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503978.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.114C>T",
"hgvs_p": "p.Tyr38Tyr",
"transcript": "ENST00000505618.6",
"protein_id": "ENSP00000425010.1",
"transcript_support_level": 4,
"aa_start": 38,
"aa_end": null,
"aa_length": 191,
"cds_start": 114,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505618.6"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.114C>T",
"hgvs_p": "p.Tyr38Tyr",
"transcript": "ENST00000507851.6",
"protein_id": "ENSP00000423384.2",
"transcript_support_level": 3,
"aa_start": 38,
"aa_end": null,
"aa_length": 191,
"cds_start": 114,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507851.6"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.114C>T",
"hgvs_p": "p.Tyr38Tyr",
"transcript": "ENST00000508513.6",
"protein_id": "ENSP00000422241.2",
"transcript_support_level": 3,
"aa_start": 38,
"aa_end": null,
"aa_length": 191,
"cds_start": 114,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508513.6"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.114C>T",
"hgvs_p": "p.Tyr38Tyr",
"transcript": "ENST00000511121.6",
"protein_id": "ENSP00000420866.2",
"transcript_support_level": 2,
"aa_start": 38,
"aa_end": null,
"aa_length": 191,
"cds_start": 114,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511121.6"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.114C>T",
"hgvs_p": "p.Tyr38Tyr",
"transcript": "ENST00000511967.6",
"protein_id": "ENSP00000514770.1",
"transcript_support_level": 3,
"aa_start": 38,
"aa_end": null,
"aa_length": 191,
"cds_start": 114,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511967.6"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.114C>T",
"hgvs_p": "p.Tyr38Tyr",
"transcript": "ENST00000513894.6",
"protein_id": "ENSP00000514771.1",
"transcript_support_level": 4,
"aa_start": 38,
"aa_end": null,
"aa_length": 191,
"cds_start": 114,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513894.6"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.114C>T",
"hgvs_p": "p.Tyr38Tyr",
"transcript": "ENST00000515503.6",
"protein_id": "ENSP00000514774.1",
"transcript_support_level": 4,
"aa_start": 38,
"aa_end": null,
"aa_length": 191,
"cds_start": 114,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515503.6"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.114C>T",
"hgvs_p": "p.Tyr38Tyr",
"transcript": "ENST00000515702.2",
"protein_id": "ENSP00000514772.1",
"transcript_support_level": 4,
"aa_start": 38,
"aa_end": null,
"aa_length": 191,
"cds_start": 114,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515702.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.114C>T",
"hgvs_p": "p.Tyr38Tyr",
"transcript": "ENST00000515718.6",
"protein_id": "ENSP00000514773.1",
"transcript_support_level": 4,
"aa_start": 38,
"aa_end": null,
"aa_length": 191,
"cds_start": 114,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515718.6"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.114C>T",
"hgvs_p": "p.Tyr38Tyr",
"transcript": "ENST00000614836.2",
"protein_id": "ENSP00000478248.1",
"transcript_support_level": 3,
"aa_start": 38,
"aa_end": null,
"aa_length": 191,
"cds_start": 114,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614836.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.114C>T",
"hgvs_p": "p.Tyr38Tyr",
"transcript": "ENST00000908158.1",
"protein_id": "ENSP00000578217.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 191,
"cds_start": 114,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908158.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.114C>T",
"hgvs_p": "p.Tyr38Tyr",
"transcript": "ENST00000908159.1",
"protein_id": "ENSP00000578218.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 191,
"cds_start": 114,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908159.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.114C>T",
"hgvs_p": "p.Tyr38Tyr",
"transcript": "ENST00000908160.1",
"protein_id": "ENSP00000578219.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 191,
"cds_start": 114,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908160.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.114C>T",
"hgvs_p": "p.Tyr38Tyr",
"transcript": "ENST00000908161.1",
"protein_id": "ENSP00000578220.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 191,
"cds_start": 114,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908161.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.114C>T",
"hgvs_p": "p.Tyr38Tyr",
"transcript": "ENST00000908162.1",
"protein_id": "ENSP00000578221.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 191,
"cds_start": 114,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908162.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.114C>T",
"hgvs_p": "p.Tyr38Tyr",
"transcript": "ENST00000908163.1",
"protein_id": "ENSP00000578222.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 191,
"cds_start": 114,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908163.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.114C>T",
"hgvs_p": "p.Tyr38Tyr",
"transcript": "ENST00000908164.1",
"protein_id": "ENSP00000578223.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 191,
"cds_start": 114,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908164.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.114C>T",
"hgvs_p": "p.Tyr38Tyr",
"transcript": "ENST00000919405.1",
"protein_id": "ENSP00000589464.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 191,
"cds_start": 114,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919405.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.114C>T",
"hgvs_p": "p.Tyr38Tyr",
"transcript": "ENST00000919406.1",
"protein_id": "ENSP00000589465.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 191,
"cds_start": 114,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919406.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.114C>T",
"hgvs_p": "p.Tyr38Tyr",
"transcript": "ENST00000919407.1",
"protein_id": "ENSP00000589466.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 191,
"cds_start": 114,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919407.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.114C>T",
"hgvs_p": "p.Tyr38Tyr",
"transcript": "ENST00000962316.1",
"protein_id": "ENSP00000632375.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 191,
"cds_start": 114,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962316.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.114C>T",
"hgvs_p": "p.Tyr38Tyr",
"transcript": "ENST00000962317.1",
"protein_id": "ENSP00000632376.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 191,
"cds_start": 114,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962317.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.114C>T",
"hgvs_p": "p.Tyr38Tyr",
"transcript": "XM_017008189.2",
"protein_id": "XP_016863678.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 191,
"cds_start": 114,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008189.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.114C>T",
"hgvs_p": "p.Tyr38Tyr",
"transcript": "XM_047415674.1",
"protein_id": "XP_047271630.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 191,
"cds_start": 114,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415674.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.114C>T",
"hgvs_p": "p.Tyr38Tyr",
"transcript": "XM_047415675.1",
"protein_id": "XP_047271631.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 191,
"cds_start": 114,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415675.1"
}
],
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"dbsnp": "rs773779601",
"frequency_reference_population": 0.000017350676,
"hom_count_reference_population": 0,
"allele_count_reference_population": 28,
"gnomad_exomes_af": 0.0000157332,
"gnomad_genomes_af": 0.0000329181,
"gnomad_exomes_ac": 23,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5699999928474426,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.954,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_004310.5",
"gene_symbol": "RHOH",
"hgnc_id": 686,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.114C>T",
"hgvs_p": "p.Tyr38Tyr"
}
],
"clinvar_disease": "T-cell immunodeficiency with epidermodysplasia verruciformis",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "T-cell immunodeficiency with epidermodysplasia verruciformis",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}