← 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: 17-32206951-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=32206951&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 32206951,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000545287.7",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.1458A>G",
"hgvs_p": "p.Glu486Glu",
"transcript": "NM_001033566.3",
"protein_id": "NP_001028738.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 659,
"cds_start": 1458,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 1649,
"cdna_end": null,
"cdna_length": 3165,
"mane_select": "ENST00000545287.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.1458A>G",
"hgvs_p": "p.Glu486Glu",
"transcript": "ENST00000545287.7",
"protein_id": "ENSP00000439737.2",
"transcript_support_level": 5,
"aa_start": 486,
"aa_end": null,
"aa_length": 659,
"cds_start": 1458,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 1649,
"cdna_end": null,
"cdna_length": 3165,
"mane_select": "NM_001033566.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.1458A>G",
"hgvs_p": "p.Glu486Glu",
"transcript": "ENST00000358365.7",
"protein_id": "ENSP00000351132.3",
"transcript_support_level": 1,
"aa_start": 486,
"aa_end": null,
"aa_length": 691,
"cds_start": 1458,
"cds_end": null,
"cds_length": 2076,
"cdna_start": 1685,
"cdna_end": null,
"cdna_length": 3297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.1458A>G",
"hgvs_p": "p.Glu486Glu",
"transcript": "ENST00000333942.10",
"protein_id": "ENSP00000334724.6",
"transcript_support_level": 1,
"aa_start": 486,
"aa_end": null,
"aa_length": 618,
"cds_start": 1458,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1697,
"cdna_end": null,
"cdna_length": 3133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.1395A>G",
"hgvs_p": "p.Glu465Glu",
"transcript": "ENST00000354266.7",
"protein_id": "ENSP00000346215.3",
"transcript_support_level": 1,
"aa_start": 465,
"aa_end": null,
"aa_length": 597,
"cds_start": 1395,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1587,
"cdna_end": null,
"cdna_length": 2919,
"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": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "n.*1426A>G",
"hgvs_p": null,
"transcript": "ENST00000578205.5",
"protein_id": "ENSP00000462612.1",
"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": 2771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "n.1458A>G",
"hgvs_p": null,
"transcript": "ENST00000581031.5",
"protein_id": "ENSP00000464094.1",
"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": 3013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "n.*1426A>G",
"hgvs_p": null,
"transcript": "ENST00000578205.5",
"protein_id": "ENSP00000462612.1",
"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": 2771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.1458A>G",
"hgvs_p": "p.Glu486Glu",
"transcript": "NM_001033568.3",
"protein_id": "NP_001028740.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 691,
"cds_start": 1458,
"cds_end": null,
"cds_length": 2076,
"cdna_start": 1649,
"cdna_end": null,
"cdna_length": 3261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.1458A>G",
"hgvs_p": "p.Glu486Glu",
"transcript": "NM_001288754.2",
"protein_id": "NP_001275683.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 650,
"cds_start": 1458,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 1649,
"cdna_end": null,
"cdna_length": 3138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.1458A>G",
"hgvs_p": "p.Glu486Glu",
"transcript": "ENST00000394692.6",
"protein_id": "ENSP00000378184.2",
"transcript_support_level": 2,
"aa_start": 486,
"aa_end": null,
"aa_length": 650,
"cds_start": 1458,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 1471,
"cdna_end": null,
"cdna_length": 2960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.1458A>G",
"hgvs_p": "p.Glu486Glu",
"transcript": "ENST00000581148.2",
"protein_id": "ENSP00000467272.2",
"transcript_support_level": 2,
"aa_start": 486,
"aa_end": null,
"aa_length": 633,
"cds_start": 1458,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 1581,
"cdna_end": null,
"cdna_length": 2417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.1458A>G",
"hgvs_p": "p.Glu486Glu",
"transcript": "NM_018307.5",
"protein_id": "NP_060777.3",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 618,
"cds_start": 1458,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1649,
"cdna_end": null,
"cdna_length": 3042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.1395A>G",
"hgvs_p": "p.Glu465Glu",
"transcript": "NM_001288755.2",
"protein_id": "NP_001275684.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 597,
"cds_start": 1395,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1645,
"cdna_end": null,
"cdna_length": 3038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.1458A>G",
"hgvs_p": "p.Glu486Glu",
"transcript": "ENST00000581094.5",
"protein_id": "ENSP00000462669.1",
"transcript_support_level": 2,
"aa_start": 486,
"aa_end": null,
"aa_length": 580,
"cds_start": 1458,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1521,
"cdna_end": null,
"cdna_length": 3231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.1077A>G",
"hgvs_p": "p.Glu359Glu",
"transcript": "NM_001288758.2",
"protein_id": "NP_001275687.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 523,
"cds_start": 1077,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1773,
"cdna_end": null,
"cdna_length": 3262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.1077A>G",
"hgvs_p": "p.Glu359Glu",
"transcript": "NM_001033567.3",
"protein_id": "NP_001028739.2",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 491,
"cds_start": 1077,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1773,
"cdna_end": null,
"cdna_length": 3166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.207A>G",
"hgvs_p": "p.Glu69Glu",
"transcript": "ENST00000582602.5",
"protein_id": "ENSP00000464851.1",
"transcript_support_level": 3,
"aa_start": 69,
"aa_end": null,
"aa_length": 188,
"cds_start": 207,
"cds_end": null,
"cds_length": 568,
"cdna_start": 209,
"cdna_end": null,
"cdna_length": 570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.78A>G",
"hgvs_p": "p.Glu26Glu",
"transcript": "ENST00000580392.5",
"protein_id": "ENSP00000463532.1",
"transcript_support_level": 3,
"aa_start": 26,
"aa_end": null,
"aa_length": 133,
"cds_start": 78,
"cds_end": null,
"cds_length": 402,
"cdna_start": 79,
"cdna_end": null,
"cdna_length": 650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.1551A>G",
"hgvs_p": "p.Glu517Glu",
"transcript": "XM_047436353.1",
"protein_id": "XP_047292309.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 722,
"cds_start": 1551,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 4611,
"cdna_end": null,
"cdna_length": 6223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.1551A>G",
"hgvs_p": "p.Glu517Glu",
"transcript": "XM_047436355.1",
"protein_id": "XP_047292311.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 690,
"cds_start": 1551,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 4596,
"cdna_end": null,
"cdna_length": 6112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.1395A>G",
"hgvs_p": "p.Glu465Glu",
"transcript": "XM_047436357.1",
"protein_id": "XP_047292313.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 670,
"cds_start": 1395,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1689,
"cdna_end": null,
"cdna_length": 3301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.1395A>G",
"hgvs_p": "p.Glu465Glu",
"transcript": "XM_011524969.3",
"protein_id": "XP_011523271.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 660,
"cds_start": 1395,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1417,
"cdna_end": null,
"cdna_length": 2012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.1458A>G",
"hgvs_p": "p.Glu486Glu",
"transcript": "XM_011524973.3",
"protein_id": "XP_011523275.2",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 658,
"cds_start": 1458,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 1649,
"cdna_end": null,
"cdna_length": 6812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.1455A>G",
"hgvs_p": "p.Glu485Glu",
"transcript": "XM_047436358.1",
"protein_id": "XP_047292314.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 658,
"cds_start": 1455,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 1491,
"cdna_end": null,
"cdna_length": 3007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.1551A>G",
"hgvs_p": "p.Glu517Glu",
"transcript": "XM_047436359.1",
"protein_id": "XP_047292315.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 649,
"cds_start": 1551,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 4583,
"cdna_end": null,
"cdna_length": 5976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.1455A>G",
"hgvs_p": "p.Glu485Glu",
"transcript": "XM_047436360.1",
"protein_id": "XP_047292316.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 649,
"cds_start": 1455,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 1458,
"cdna_end": null,
"cdna_length": 2947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.1395A>G",
"hgvs_p": "p.Glu465Glu",
"transcript": "XM_047436354.1",
"protein_id": "XP_047292310.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 645,
"cds_start": 1395,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 1417,
"cdna_end": null,
"cdna_length": 1975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.1458A>G",
"hgvs_p": "p.Glu486Glu",
"transcript": "XM_047436361.1",
"protein_id": "XP_047292317.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 634,
"cds_start": 1458,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1649,
"cdna_end": null,
"cdna_length": 2169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.1458A>G",
"hgvs_p": "p.Glu486Glu",
"transcript": "XM_047436362.1",
"protein_id": "XP_047292318.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 626,
"cds_start": 1458,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 1649,
"cdna_end": null,
"cdna_length": 6716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.1395A>G",
"hgvs_p": "p.Glu465Glu",
"transcript": "XM_047436356.1",
"protein_id": "XP_047292312.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 619,
"cds_start": 1395,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 1417,
"cdna_end": null,
"cdna_length": 1889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.1077A>G",
"hgvs_p": "p.Glu359Glu",
"transcript": "XM_047436363.1",
"protein_id": "XP_047292319.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 564,
"cds_start": 1077,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 1813,
"cdna_end": null,
"cdna_length": 3425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.1077A>G",
"hgvs_p": "p.Glu359Glu",
"transcript": "XM_047436364.1",
"protein_id": "XP_047292320.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 564,
"cds_start": 1077,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 1590,
"cdna_end": null,
"cdna_length": 3202,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "n.156A>G",
"hgvs_p": null,
"transcript": "ENST00000581567.1",
"protein_id": null,
"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": 746,
"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": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "n.*1426A>G",
"hgvs_p": null,
"transcript": "ENST00000583994.5",
"protein_id": "ENSP00000462698.2",
"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": 3289,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "n.2A>G",
"hgvs_p": null,
"transcript": "ENST00000584692.1",
"protein_id": "ENSP00000464674.1",
"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": 680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "n.1649A>G",
"hgvs_p": null,
"transcript": "NR_110083.2",
"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": 3303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "n.*1426A>G",
"hgvs_p": null,
"transcript": "ENST00000583994.5",
"protein_id": "ENSP00000462698.2",
"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": 3289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"dbsnp": "rs16967164",
"frequency_reference_population": 0.20102213,
"hom_count_reference_population": 37813,
"allele_count_reference_population": 322302,
"gnomad_exomes_af": 0.193175,
"gnomad_genomes_af": 0.275905,
"gnomad_exomes_ac": 280344,
"gnomad_genomes_ac": 41958,
"gnomad_exomes_homalt": 30328,
"gnomad_genomes_homalt": 7485,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5099999904632568,
"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": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.875,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000545287.7",
"gene_symbol": "RHOT1",
"hgnc_id": 21168,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1458A>G",
"hgvs_p": "p.Glu486Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}