← 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: 7-45101917-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=45101917&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 45101917,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001261834.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1475T>C",
"hgvs_p": "p.Leu492Pro",
"transcript": "NM_004749.4",
"protein_id": "NP_004740.2",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 631,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000258770.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004749.4"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1475T>C",
"hgvs_p": "p.Leu492Pro",
"transcript": "ENST00000258770.8",
"protein_id": "ENSP00000258770.3",
"transcript_support_level": 1,
"aa_start": 492,
"aa_end": null,
"aa_length": 631,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004749.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258770.8"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1145T>C",
"hgvs_p": "p.Leu382Pro",
"transcript": "ENST00000361278.7",
"protein_id": "ENSP00000354992.3",
"transcript_support_level": 1,
"aa_start": 382,
"aa_end": null,
"aa_length": 521,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361278.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "n.2764T>C",
"hgvs_p": null,
"transcript": "ENST00000495973.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000495973.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1508T>C",
"hgvs_p": "p.Leu503Pro",
"transcript": "NM_001261834.2",
"protein_id": "NP_001248763.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 642,
"cds_start": 1508,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261834.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1475T>C",
"hgvs_p": "p.Leu492Pro",
"transcript": "ENST00000494076.5",
"protein_id": "ENSP00000420597.1",
"transcript_support_level": 2,
"aa_start": 492,
"aa_end": null,
"aa_length": 631,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000494076.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1475T>C",
"hgvs_p": "p.Leu492Pro",
"transcript": "ENST00000895097.1",
"protein_id": "ENSP00000565156.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 631,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895097.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1475T>C",
"hgvs_p": "p.Leu492Pro",
"transcript": "ENST00000895098.1",
"protein_id": "ENSP00000565157.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 631,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895098.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1475T>C",
"hgvs_p": "p.Leu492Pro",
"transcript": "ENST00000895106.1",
"protein_id": "ENSP00000565165.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 631,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895106.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1475T>C",
"hgvs_p": "p.Leu492Pro",
"transcript": "ENST00000895109.1",
"protein_id": "ENSP00000565168.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 631,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895109.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1475T>C",
"hgvs_p": "p.Leu492Pro",
"transcript": "ENST00000895114.1",
"protein_id": "ENSP00000565173.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 631,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895114.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1475T>C",
"hgvs_p": "p.Leu492Pro",
"transcript": "ENST00000895115.1",
"protein_id": "ENSP00000565174.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 631,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895115.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1475T>C",
"hgvs_p": "p.Leu492Pro",
"transcript": "ENST00000934800.1",
"protein_id": "ENSP00000604859.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 631,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934800.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1475T>C",
"hgvs_p": "p.Leu492Pro",
"transcript": "ENST00000934812.1",
"protein_id": "ENSP00000604871.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 631,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934812.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1475T>C",
"hgvs_p": "p.Leu492Pro",
"transcript": "ENST00000967965.1",
"protein_id": "ENSP00000638024.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 631,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967965.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1475T>C",
"hgvs_p": "p.Leu492Pro",
"transcript": "ENST00000967968.1",
"protein_id": "ENSP00000638027.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 631,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967968.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1475T>C",
"hgvs_p": "p.Leu492Pro",
"transcript": "ENST00000967971.1",
"protein_id": "ENSP00000638030.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 631,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967971.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1475T>C",
"hgvs_p": "p.Leu492Pro",
"transcript": "ENST00000967973.1",
"protein_id": "ENSP00000638032.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 631,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967973.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1475T>C",
"hgvs_p": "p.Leu492Pro",
"transcript": "ENST00000895108.1",
"protein_id": "ENSP00000565167.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 618,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895108.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1475T>C",
"hgvs_p": "p.Leu492Pro",
"transcript": "ENST00000934796.1",
"protein_id": "ENSP00000604855.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 618,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934796.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1430T>C",
"hgvs_p": "p.Leu477Pro",
"transcript": "ENST00000895102.1",
"protein_id": "ENSP00000565161.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 616,
"cds_start": 1430,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895102.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1430T>C",
"hgvs_p": "p.Leu477Pro",
"transcript": "ENST00000895103.1",
"protein_id": "ENSP00000565162.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 616,
"cds_start": 1430,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895103.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1409T>C",
"hgvs_p": "p.Leu470Pro",
"transcript": "ENST00000895113.1",
"protein_id": "ENSP00000565172.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 609,
"cds_start": 1409,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895113.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1409T>C",
"hgvs_p": "p.Leu470Pro",
"transcript": "ENST00000967963.1",
"protein_id": "ENSP00000638022.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 609,
"cds_start": 1409,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967963.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1409T>C",
"hgvs_p": "p.Leu470Pro",
"transcript": "ENST00000967964.1",
"protein_id": "ENSP00000638023.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 609,
"cds_start": 1409,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967964.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1370T>C",
"hgvs_p": "p.Leu457Pro",
"transcript": "ENST00000895099.1",
"protein_id": "ENSP00000565158.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 596,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895099.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1370T>C",
"hgvs_p": "p.Leu457Pro",
"transcript": "ENST00000895111.1",
"protein_id": "ENSP00000565170.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 596,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895111.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1370T>C",
"hgvs_p": "p.Leu457Pro",
"transcript": "ENST00000934807.1",
"protein_id": "ENSP00000604866.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 596,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934807.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1319T>C",
"hgvs_p": "p.Leu440Pro",
"transcript": "ENST00000934809.1",
"protein_id": "ENSP00000604868.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 579,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934809.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1298T>C",
"hgvs_p": "p.Leu433Pro",
"transcript": "ENST00000934806.1",
"protein_id": "ENSP00000604865.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 572,
"cds_start": 1298,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934806.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1238T>C",
"hgvs_p": "p.Leu413Pro",
"transcript": "ENST00000934801.1",
"protein_id": "ENSP00000604860.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 552,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934801.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1172T>C",
"hgvs_p": "p.Leu391Pro",
"transcript": "ENST00000934799.1",
"protein_id": "ENSP00000604858.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 530,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934799.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1172T>C",
"hgvs_p": "p.Leu391Pro",
"transcript": "ENST00000934811.1",
"protein_id": "ENSP00000604870.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 530,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934811.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1145T>C",
"hgvs_p": "p.Leu382Pro",
"transcript": "NM_030900.4",
"protein_id": "NP_112162.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 521,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030900.4"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1145T>C",
"hgvs_p": "p.Leu382Pro",
"transcript": "NM_199122.3",
"protein_id": "NP_954573.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 521,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199122.3"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1145T>C",
"hgvs_p": "p.Leu382Pro",
"transcript": "ENST00000395655.8",
"protein_id": "ENSP00000379016.4",
"transcript_support_level": 2,
"aa_start": 382,
"aa_end": null,
"aa_length": 521,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395655.8"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1145T>C",
"hgvs_p": "p.Leu382Pro",
"transcript": "ENST00000895104.1",
"protein_id": "ENSP00000565163.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 521,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895104.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1145T>C",
"hgvs_p": "p.Leu382Pro",
"transcript": "ENST00000895107.1",
"protein_id": "ENSP00000565166.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 521,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895107.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1145T>C",
"hgvs_p": "p.Leu382Pro",
"transcript": "ENST00000934798.1",
"protein_id": "ENSP00000604857.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 521,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934798.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1145T>C",
"hgvs_p": "p.Leu382Pro",
"transcript": "ENST00000967972.1",
"protein_id": "ENSP00000638031.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 521,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967972.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1142T>C",
"hgvs_p": "p.Leu381Pro",
"transcript": "ENST00000934805.1",
"protein_id": "ENSP00000604864.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 520,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934805.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1133T>C",
"hgvs_p": "p.Leu378Pro",
"transcript": "ENST00000967967.1",
"protein_id": "ENSP00000638026.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 517,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967967.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1145T>C",
"hgvs_p": "p.Leu382Pro",
"transcript": "ENST00000967969.1",
"protein_id": "ENSP00000638028.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 508,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967969.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1145T>C",
"hgvs_p": "p.Leu382Pro",
"transcript": "ENST00000967970.1",
"protein_id": "ENSP00000638029.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 508,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967970.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1100T>C",
"hgvs_p": "p.Leu367Pro",
"transcript": "ENST00000895101.1",
"protein_id": "ENSP00000565160.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 506,
"cds_start": 1100,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895101.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1061T>C",
"hgvs_p": "p.Leu354Pro",
"transcript": "ENST00000895105.1",
"protein_id": "ENSP00000565164.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 493,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895105.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1040T>C",
"hgvs_p": "p.Leu347Pro",
"transcript": "ENST00000934797.1",
"protein_id": "ENSP00000604856.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 486,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934797.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1040T>C",
"hgvs_p": "p.Leu347Pro",
"transcript": "ENST00000967962.1",
"protein_id": "ENSP00000638021.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 486,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967962.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1040T>C",
"hgvs_p": "p.Leu347Pro",
"transcript": "ENST00000967966.1",
"protein_id": "ENSP00000638025.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 486,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967966.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1034T>C",
"hgvs_p": "p.Leu345Pro",
"transcript": "ENST00000895100.1",
"protein_id": "ENSP00000565159.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 484,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895100.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1034T>C",
"hgvs_p": "p.Leu345Pro",
"transcript": "ENST00000895110.1",
"protein_id": "ENSP00000565169.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 484,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895110.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1034T>C",
"hgvs_p": "p.Leu345Pro",
"transcript": "ENST00000895112.1",
"protein_id": "ENSP00000565171.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 484,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895112.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1034T>C",
"hgvs_p": "p.Leu345Pro",
"transcript": "ENST00000934810.1",
"protein_id": "ENSP00000604869.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 484,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934810.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.581T>C",
"hgvs_p": "p.Leu194Pro",
"transcript": "ENST00000934808.1",
"protein_id": "ENSP00000604867.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 333,
"cds_start": 581,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934808.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.617T>C",
"hgvs_p": "p.Leu206Pro",
"transcript": "ENST00000483615.1",
"protein_id": "ENSP00000417974.1",
"transcript_support_level": 3,
"aa_start": 206,
"aa_end": null,
"aa_length": 272,
"cds_start": 617,
"cds_end": null,
"cds_length": 821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000483615.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1322-303T>C",
"hgvs_p": null,
"transcript": "ENST00000934803.1",
"protein_id": "ENSP00000604862.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 549,
"cds_start": null,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934803.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.1019-303T>C",
"hgvs_p": null,
"transcript": "ENST00000934804.1",
"protein_id": "ENSP00000604863.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 448,
"cds_start": null,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934804.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "c.992-303T>C",
"hgvs_p": null,
"transcript": "ENST00000934802.1",
"protein_id": "ENSP00000604861.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 439,
"cds_start": null,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934802.1"
},
{
"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": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "n.498T>C",
"hgvs_p": null,
"transcript": "ENST00000478116.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000478116.1"
},
{
"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": "TBRG4",
"gene_hgnc_id": 17443,
"hgvs_c": "n.379T>C",
"hgvs_p": null,
"transcript": "ENST00000482482.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000482482.1"
}
],
"gene_symbol": "TBRG4",
"gene_hgnc_id": 17443,
"dbsnp": null,
"frequency_reference_population": 0.0000013710801,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000137108,
"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": 0.8569020628929138,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.465,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.326,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.128,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.03,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001261834.2",
"gene_symbol": "TBRG4",
"hgnc_id": 17443,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1508T>C",
"hgvs_p": "p.Leu503Pro"
}
],
"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
}