← 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: 17-45169601-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=45169601&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 45169601,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001303436.1",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.653T>G",
"hgvs_p": "p.Leu218Arg",
"transcript": "NM_001303441.2",
"protein_id": "NP_001290370.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 286,
"cds_start": 653,
"cds_end": null,
"cds_length": 861,
"cdna_start": 1002,
"cdna_end": null,
"cdna_length": 1436,
"mane_select": "ENST00000589230.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303441.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.653T>G",
"hgvs_p": "p.Leu218Arg",
"transcript": "ENST00000589230.6",
"protein_id": "ENSP00000466200.2",
"transcript_support_level": 2,
"aa_start": 218,
"aa_end": null,
"aa_length": 286,
"cds_start": 653,
"cds_end": null,
"cds_length": 861,
"cdna_start": 1002,
"cdna_end": null,
"cdna_length": 1436,
"mane_select": "NM_001303441.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589230.6"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.653T>G",
"hgvs_p": "p.Leu218Arg",
"transcript": "ENST00000591576.5",
"protein_id": "ENSP00000465727.1",
"transcript_support_level": 1,
"aa_start": 218,
"aa_end": null,
"aa_length": 286,
"cds_start": 653,
"cds_end": null,
"cds_length": 861,
"cdna_start": 742,
"cdna_end": null,
"cdna_length": 1176,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591576.5"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.653T>G",
"hgvs_p": "p.Leu218Arg",
"transcript": "ENST00000592695.1",
"protein_id": "ENSP00000467517.1",
"transcript_support_level": 1,
"aa_start": 218,
"aa_end": null,
"aa_length": 286,
"cds_start": 653,
"cds_end": null,
"cds_length": 861,
"cdna_start": 812,
"cdna_end": null,
"cdna_length": 1246,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592695.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.719T>G",
"hgvs_p": "p.Leu240Arg",
"transcript": "NM_001303436.1",
"protein_id": "NP_001290365.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 308,
"cds_start": 719,
"cds_end": null,
"cds_length": 927,
"cdna_start": 1467,
"cdna_end": null,
"cdna_length": 1906,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303436.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.653T>G",
"hgvs_p": "p.Leu218Arg",
"transcript": "NM_001303437.1",
"protein_id": "NP_001290366.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 286,
"cds_start": 653,
"cds_end": null,
"cds_length": 861,
"cdna_start": 1920,
"cdna_end": null,
"cdna_length": 2359,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303437.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.653T>G",
"hgvs_p": "p.Leu218Arg",
"transcript": "NM_001303438.1",
"protein_id": "NP_001290367.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 286,
"cds_start": 653,
"cds_end": null,
"cds_length": 861,
"cdna_start": 1772,
"cdna_end": null,
"cdna_length": 2211,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303438.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.653T>G",
"hgvs_p": "p.Leu218Arg",
"transcript": "NM_001303439.1",
"protein_id": "NP_001290368.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 286,
"cds_start": 653,
"cds_end": null,
"cds_length": 861,
"cdna_start": 1924,
"cdna_end": null,
"cdna_length": 2363,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303439.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.653T>G",
"hgvs_p": "p.Leu218Arg",
"transcript": "NM_001303440.2",
"protein_id": "NP_001290369.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 286,
"cds_start": 653,
"cds_end": null,
"cds_length": 861,
"cdna_start": 854,
"cdna_end": null,
"cdna_length": 1288,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303440.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.653T>G",
"hgvs_p": "p.Leu218Arg",
"transcript": "NM_001303442.2",
"protein_id": "NP_001290371.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 286,
"cds_start": 653,
"cds_end": null,
"cds_length": 861,
"cdna_start": 762,
"cdna_end": null,
"cdna_length": 1196,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303442.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.653T>G",
"hgvs_p": "p.Leu218Arg",
"transcript": "NM_001303443.2",
"protein_id": "NP_001290372.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 286,
"cds_start": 653,
"cds_end": null,
"cds_length": 861,
"cdna_start": 910,
"cdna_end": null,
"cdna_length": 1344,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303443.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.653T>G",
"hgvs_p": "p.Leu218Arg",
"transcript": "NM_001303444.2",
"protein_id": "NP_001290373.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 286,
"cds_start": 653,
"cds_end": null,
"cds_length": 861,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 1199,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303444.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.653T>G",
"hgvs_p": "p.Leu218Arg",
"transcript": "NM_144608.2",
"protein_id": "NP_653209.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 286,
"cds_start": 653,
"cds_end": null,
"cds_length": 861,
"cdna_start": 1615,
"cdna_end": null,
"cdna_length": 2054,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144608.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.653T>G",
"hgvs_p": "p.Leu218Arg",
"transcript": "ENST00000307275.7",
"protein_id": "ENSP00000302276.2",
"transcript_support_level": 2,
"aa_start": 218,
"aa_end": null,
"aa_length": 286,
"cds_start": 653,
"cds_end": null,
"cds_length": 861,
"cdna_start": 1089,
"cdna_end": null,
"cdna_length": 1528,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307275.7"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.653T>G",
"hgvs_p": "p.Leu218Arg",
"transcript": "ENST00000585340.2",
"protein_id": "ENSP00000468251.2",
"transcript_support_level": 3,
"aa_start": 218,
"aa_end": null,
"aa_length": 286,
"cds_start": 653,
"cds_end": null,
"cds_length": 861,
"cdna_start": 911,
"cdna_end": null,
"cdna_length": 1345,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585340.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.653T>G",
"hgvs_p": "p.Leu218Arg",
"transcript": "ENST00000586681.6",
"protein_id": "ENSP00000465086.2",
"transcript_support_level": 2,
"aa_start": 218,
"aa_end": null,
"aa_length": 286,
"cds_start": 653,
"cds_end": null,
"cds_length": 861,
"cdna_start": 1004,
"cdna_end": null,
"cdna_length": 1438,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586681.6"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.653T>G",
"hgvs_p": "p.Leu218Arg",
"transcript": "ENST00000591070.6",
"protein_id": "ENSP00000464807.2",
"transcript_support_level": 3,
"aa_start": 218,
"aa_end": null,
"aa_length": 286,
"cds_start": 653,
"cds_end": null,
"cds_length": 861,
"cdna_start": 889,
"cdna_end": null,
"cdna_length": 1323,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591070.6"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.653T>G",
"hgvs_p": "p.Leu218Arg",
"transcript": "ENST00000593138.6",
"protein_id": "ENSP00000468773.2",
"transcript_support_level": 3,
"aa_start": 218,
"aa_end": null,
"aa_length": 286,
"cds_start": 653,
"cds_end": null,
"cds_length": 861,
"cdna_start": 868,
"cdna_end": null,
"cdna_length": 1302,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593138.6"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.653T>G",
"hgvs_p": "p.Leu218Arg",
"transcript": "ENST00000894989.1",
"protein_id": "ENSP00000565048.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 286,
"cds_start": 653,
"cds_end": null,
"cds_length": 861,
"cdna_start": 2631,
"cdna_end": null,
"cdna_length": 3728,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894989.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.653T>G",
"hgvs_p": "p.Leu218Arg",
"transcript": "ENST00000894990.1",
"protein_id": "ENSP00000565049.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 286,
"cds_start": 653,
"cds_end": null,
"cds_length": 861,
"cdna_start": 942,
"cdna_end": null,
"cdna_length": 1379,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894990.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.653T>G",
"hgvs_p": "p.Leu218Arg",
"transcript": "ENST00000894991.1",
"protein_id": "ENSP00000565050.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 286,
"cds_start": 653,
"cds_end": null,
"cds_length": 861,
"cdna_start": 995,
"cdna_end": null,
"cdna_length": 1426,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894991.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.653T>G",
"hgvs_p": "p.Leu218Arg",
"transcript": "ENST00000894992.1",
"protein_id": "ENSP00000565051.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 286,
"cds_start": 653,
"cds_end": null,
"cds_length": 861,
"cdna_start": 1199,
"cdna_end": null,
"cdna_length": 1630,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894992.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.653T>G",
"hgvs_p": "p.Leu218Arg",
"transcript": "ENST00000894993.1",
"protein_id": "ENSP00000565052.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 286,
"cds_start": 653,
"cds_end": null,
"cds_length": 861,
"cdna_start": 1078,
"cdna_end": null,
"cdna_length": 1516,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894993.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.653T>G",
"hgvs_p": "p.Leu218Arg",
"transcript": "ENST00000894994.1",
"protein_id": "ENSP00000565053.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 286,
"cds_start": 653,
"cds_end": null,
"cds_length": 861,
"cdna_start": 1082,
"cdna_end": null,
"cdna_length": 1516,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894994.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.653T>G",
"hgvs_p": "p.Leu218Arg",
"transcript": "ENST00000894995.1",
"protein_id": "ENSP00000565054.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 286,
"cds_start": 653,
"cds_end": null,
"cds_length": 861,
"cdna_start": 2704,
"cdna_end": null,
"cdna_length": 3138,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894995.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.653T>G",
"hgvs_p": "p.Leu218Arg",
"transcript": "ENST00000894996.1",
"protein_id": "ENSP00000565055.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 286,
"cds_start": 653,
"cds_end": null,
"cds_length": 861,
"cdna_start": 2385,
"cdna_end": null,
"cdna_length": 2816,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894996.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.653T>G",
"hgvs_p": "p.Leu218Arg",
"transcript": "ENST00000894997.1",
"protein_id": "ENSP00000565056.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 286,
"cds_start": 653,
"cds_end": null,
"cds_length": 861,
"cdna_start": 1024,
"cdna_end": null,
"cdna_length": 1458,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894997.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.653T>G",
"hgvs_p": "p.Leu218Arg",
"transcript": "ENST00000894998.1",
"protein_id": "ENSP00000565057.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 286,
"cds_start": 653,
"cds_end": null,
"cds_length": 861,
"cdna_start": 1132,
"cdna_end": null,
"cdna_length": 1563,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894998.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.653T>G",
"hgvs_p": "p.Leu218Arg",
"transcript": "ENST00000894999.1",
"protein_id": "ENSP00000565058.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 286,
"cds_start": 653,
"cds_end": null,
"cds_length": 861,
"cdna_start": 1129,
"cdna_end": null,
"cdna_length": 1560,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894999.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.653T>G",
"hgvs_p": "p.Leu218Arg",
"transcript": "ENST00000895000.1",
"protein_id": "ENSP00000565059.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 286,
"cds_start": 653,
"cds_end": null,
"cds_length": 861,
"cdna_start": 778,
"cdna_end": null,
"cdna_length": 1874,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895000.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.653T>G",
"hgvs_p": "p.Leu218Arg",
"transcript": "ENST00000895001.1",
"protein_id": "ENSP00000565060.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 286,
"cds_start": 653,
"cds_end": null,
"cds_length": 861,
"cdna_start": 998,
"cdna_end": null,
"cdna_length": 2095,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895001.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.653T>G",
"hgvs_p": "p.Leu218Arg",
"transcript": "ENST00000895002.1",
"protein_id": "ENSP00000565061.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 286,
"cds_start": 653,
"cds_end": null,
"cds_length": 861,
"cdna_start": 846,
"cdna_end": null,
"cdna_length": 1277,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895002.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.653T>G",
"hgvs_p": "p.Leu218Arg",
"transcript": "ENST00000895003.1",
"protein_id": "ENSP00000565062.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 286,
"cds_start": 653,
"cds_end": null,
"cds_length": 861,
"cdna_start": 855,
"cdna_end": null,
"cdna_length": 1288,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895003.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.653T>G",
"hgvs_p": "p.Leu218Arg",
"transcript": "ENST00000895004.1",
"protein_id": "ENSP00000565063.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 286,
"cds_start": 653,
"cds_end": null,
"cds_length": 861,
"cdna_start": 930,
"cdna_end": null,
"cdna_length": 1361,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895004.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.653T>G",
"hgvs_p": "p.Leu218Arg",
"transcript": "ENST00000895005.1",
"protein_id": "ENSP00000565064.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 286,
"cds_start": 653,
"cds_end": null,
"cds_length": 861,
"cdna_start": 777,
"cdna_end": null,
"cdna_length": 1208,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895005.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.653T>G",
"hgvs_p": "p.Leu218Arg",
"transcript": "ENST00000895006.1",
"protein_id": "ENSP00000565065.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 286,
"cds_start": 653,
"cds_end": null,
"cds_length": 861,
"cdna_start": 899,
"cdna_end": null,
"cdna_length": 1330,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895006.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.653T>G",
"hgvs_p": "p.Leu218Arg",
"transcript": "ENST00000928699.1",
"protein_id": "ENSP00000598758.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 286,
"cds_start": 653,
"cds_end": null,
"cds_length": 861,
"cdna_start": 871,
"cdna_end": null,
"cdna_length": 1305,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928699.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.653T>G",
"hgvs_p": "p.Leu218Arg",
"transcript": "ENST00000928700.1",
"protein_id": "ENSP00000598759.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 286,
"cds_start": 653,
"cds_end": null,
"cds_length": 861,
"cdna_start": 869,
"cdna_end": null,
"cdna_length": 1303,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928700.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.653T>G",
"hgvs_p": "p.Leu218Arg",
"transcript": "ENST00000963067.1",
"protein_id": "ENSP00000633126.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 286,
"cds_start": 653,
"cds_end": null,
"cds_length": 861,
"cdna_start": 945,
"cdna_end": null,
"cdna_length": 2045,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963067.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.653T>G",
"hgvs_p": "p.Leu218Arg",
"transcript": "ENST00000963068.1",
"protein_id": "ENSP00000633127.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 286,
"cds_start": 653,
"cds_end": null,
"cds_length": 861,
"cdna_start": 886,
"cdna_end": null,
"cdna_length": 1320,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963068.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.653T>G",
"hgvs_p": "p.Leu218Arg",
"transcript": "ENST00000963069.1",
"protein_id": "ENSP00000633128.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 286,
"cds_start": 653,
"cds_end": null,
"cds_length": 861,
"cdna_start": 1116,
"cdna_end": null,
"cdna_length": 1548,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963069.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.653T>G",
"hgvs_p": "p.Leu218Arg",
"transcript": "ENST00000963070.1",
"protein_id": "ENSP00000633129.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 286,
"cds_start": 653,
"cds_end": null,
"cds_length": 861,
"cdna_start": 995,
"cdna_end": null,
"cdna_length": 1426,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963070.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.1136T>G",
"hgvs_p": "p.Leu379Arg",
"transcript": "XM_011524308.4",
"protein_id": "XP_011522610.4",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 447,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1884,
"cdna_end": null,
"cdna_length": 2323,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524308.4"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.1133T>G",
"hgvs_p": "p.Leu378Arg",
"transcript": "XM_011524307.4",
"protein_id": "XP_011522609.4",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 446,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1881,
"cdna_end": null,
"cdna_length": 2320,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524307.4"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.722T>G",
"hgvs_p": "p.Leu241Arg",
"transcript": "XM_006721687.5",
"protein_id": "XP_006721750.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 309,
"cds_start": 722,
"cds_end": null,
"cds_length": 930,
"cdna_start": 1470,
"cdna_end": null,
"cdna_length": 1909,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006721687.5"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.653T>G",
"hgvs_p": "p.Leu218Arg",
"transcript": "XM_047435323.1",
"protein_id": "XP_047291279.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 286,
"cds_start": 653,
"cds_end": null,
"cds_length": 861,
"cdna_start": 1819,
"cdna_end": null,
"cdna_length": 2258,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435323.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.653T>G",
"hgvs_p": "p.Leu218Arg",
"transcript": "XM_047435324.1",
"protein_id": "XP_047291280.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 286,
"cds_start": 653,
"cds_end": null,
"cds_length": 861,
"cdna_start": 1618,
"cdna_end": null,
"cdna_length": 2057,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435324.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "HEXIM2-AS2",
"gene_hgnc_id": 56693,
"hgvs_c": "n.1252A>C",
"hgvs_p": null,
"transcript": "ENST00000589796.2",
"protein_id": null,
"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": 2053,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000589796.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2-AS2",
"gene_hgnc_id": 56693,
"hgvs_c": "n.692A>C",
"hgvs_p": null,
"transcript": "ENST00000837919.1",
"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": 1233,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000837919.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2-AS2",
"gene_hgnc_id": 56693,
"hgvs_c": "n.811A>C",
"hgvs_p": null,
"transcript": "ENST00000837920.1",
"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": 1352,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000837920.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2-AS2",
"gene_hgnc_id": 56693,
"hgvs_c": "n.828A>C",
"hgvs_p": null,
"transcript": "ENST00000837921.1",
"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": 1369,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000837921.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2-AS2",
"gene_hgnc_id": 56693,
"hgvs_c": "n.1180A>C",
"hgvs_p": null,
"transcript": "ENST00000837922.1",
"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": 1721,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000837922.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2-AS2",
"gene_hgnc_id": 56693,
"hgvs_c": "n.656A>C",
"hgvs_p": null,
"transcript": "ENST00000837923.1",
"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": 1197,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000837923.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2-AS2",
"gene_hgnc_id": 56693,
"hgvs_c": "n.531A>C",
"hgvs_p": null,
"transcript": "ENST00000837924.1",
"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": 1072,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000837924.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2-AS2",
"gene_hgnc_id": 56693,
"hgvs_c": "n.430A>C",
"hgvs_p": null,
"transcript": "ENST00000837925.1",
"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": 971,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000837925.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2-AS2",
"gene_hgnc_id": 56693,
"hgvs_c": "n.999A>C",
"hgvs_p": null,
"transcript": "ENST00000837926.1",
"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": 1540,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000837926.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2-AS2",
"gene_hgnc_id": 56693,
"hgvs_c": "n.835A>C",
"hgvs_p": null,
"transcript": "ENST00000837927.1",
"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": 1376,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000837927.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "HEXIM2-AS2",
"gene_hgnc_id": 56693,
"hgvs_c": "n.1252A>C",
"hgvs_p": null,
"transcript": "NR_135646.1",
"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": 2048,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_135646.1"
}
],
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"dbsnp": "rs1019445820",
"frequency_reference_population": 0.0000014401149,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000144011,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7501345872879028,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.276,
"revel_prediction": "Benign",
"alphamissense_score": 0.2466,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.164,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001303436.1",
"gene_symbol": "HEXIM2",
"hgnc_id": 28591,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.719T>G",
"hgvs_p": "p.Leu240Arg"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000589796.2",
"gene_symbol": "HEXIM2-AS2",
"hgnc_id": 56693,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1252A>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}