← 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: 10-133281329-CCG-GCC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=133281329&ref=CCG&alt=GCC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "TUBGCP2",
"hgnc_id": 18599,
"hgvs_c": "c.2599_2601delCGGinsGGC",
"hgvs_p": "p.Arg867Gly",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001256617.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GCC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 902,
"aa_ref": "R",
"aa_start": 839,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3929,
"cdna_start": 2606,
"cds_end": null,
"cds_length": 2709,
"cds_start": 2515,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_006659.4",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "c.2515_2517delCGGinsGGC",
"hgvs_p": "p.Arg839Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000252936.8",
"protein_coding": true,
"protein_id": "NP_006650.1",
"strand": false,
"transcript": "NM_006659.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 902,
"aa_ref": "R",
"aa_start": 839,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3929,
"cdna_start": 2606,
"cds_end": null,
"cds_length": 2709,
"cds_start": 2515,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000252936.8",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "c.2515_2517delCGGinsGGC",
"hgvs_p": "p.Arg839Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006659.4",
"protein_coding": true,
"protein_id": "ENSP00000252936.3",
"strand": false,
"transcript": "ENST00000252936.8",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 930,
"aa_ref": "R",
"aa_start": 867,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2882,
"cdna_start": 2653,
"cds_end": null,
"cds_length": 2793,
"cds_start": 2599,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000543663.6",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "c.2599_2601delCGGinsGGC",
"hgvs_p": "p.Arg867Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000446093.1",
"strand": false,
"transcript": "ENST00000543663.6",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 930,
"aa_ref": "R",
"aa_start": 867,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4013,
"cdna_start": 2690,
"cds_end": null,
"cds_length": 2793,
"cds_start": 2599,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001256617.2",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "c.2599_2601delCGGinsGGC",
"hgvs_p": "p.Arg867Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243546.1",
"strand": false,
"transcript": "NM_001256617.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 925,
"aa_ref": "R",
"aa_start": 862,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4027,
"cdna_start": 2780,
"cds_end": null,
"cds_length": 2778,
"cds_start": 2584,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000682161.1",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "c.2584_2586delCGGinsGGC",
"hgvs_p": "p.Arg862Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507509.1",
"strand": false,
"transcript": "ENST00000682161.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 917,
"aa_ref": "R",
"aa_start": 854,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3263,
"cdna_start": 2937,
"cds_end": null,
"cds_length": 2754,
"cds_start": 2560,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968924.1",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "c.2560_2562delCGGinsGGC",
"hgvs_p": "p.Arg854Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638983.1",
"strand": false,
"transcript": "ENST00000968924.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 916,
"aa_ref": "R",
"aa_start": 853,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2938,
"cdna_start": 2618,
"cds_end": null,
"cds_length": 2751,
"cds_start": 2557,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968930.1",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "c.2557_2559delCGGinsGGC",
"hgvs_p": "p.Arg853Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638989.1",
"strand": false,
"transcript": "ENST00000968930.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 913,
"aa_ref": "R",
"aa_start": 850,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3896,
"cdna_start": 2613,
"cds_end": null,
"cds_length": 2742,
"cds_start": 2548,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000682905.1",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "c.2548_2550delCGGinsGGC",
"hgvs_p": "p.Arg850Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507305.1",
"strand": false,
"transcript": "ENST00000682905.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 907,
"aa_ref": "R",
"aa_start": 844,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2946,
"cdna_start": 2632,
"cds_end": null,
"cds_length": 2724,
"cds_start": 2530,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968925.1",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "c.2530_2532delCGGinsGGC",
"hgvs_p": "p.Arg844Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638984.1",
"strand": false,
"transcript": "ENST00000968925.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 906,
"aa_ref": "R",
"aa_start": 843,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3397,
"cdna_start": 2939,
"cds_end": null,
"cds_length": 2721,
"cds_start": 2527,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000855454.1",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "c.2527_2529delCGGinsGGC",
"hgvs_p": "p.Arg843Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525513.1",
"strand": false,
"transcript": "ENST00000855454.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 902,
"aa_ref": "R",
"aa_start": 839,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4133,
"cdna_start": 2832,
"cds_end": null,
"cds_length": 2709,
"cds_start": 2515,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000682123.1",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "c.2515_2517delCGGinsGGC",
"hgvs_p": "p.Arg839Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507610.1",
"strand": false,
"transcript": "ENST00000682123.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 902,
"aa_ref": "R",
"aa_start": 839,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3838,
"cdna_start": 2555,
"cds_end": null,
"cds_length": 2709,
"cds_start": 2515,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000682515.1",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "c.2515_2517delCGGinsGGC",
"hgvs_p": "p.Arg839Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506731.1",
"strand": false,
"transcript": "ENST00000682515.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 902,
"aa_ref": "R",
"aa_start": 839,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3928,
"cdna_start": 2627,
"cds_end": null,
"cds_length": 2709,
"cds_start": 2515,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000683612.1",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "c.2515_2517delCGGinsGGC",
"hgvs_p": "p.Arg839Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507482.1",
"strand": false,
"transcript": "ENST00000683612.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 902,
"aa_ref": "R",
"aa_start": 839,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2940,
"cdna_start": 2618,
"cds_end": null,
"cds_length": 2709,
"cds_start": 2515,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000855457.1",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "c.2515_2517delCGGinsGGC",
"hgvs_p": "p.Arg839Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525516.1",
"strand": false,
"transcript": "ENST00000855457.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 902,
"aa_ref": "R",
"aa_start": 839,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6322,
"cdna_start": 6002,
"cds_end": null,
"cds_length": 2709,
"cds_start": 2515,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000855459.1",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "c.2515_2517delCGGinsGGC",
"hgvs_p": "p.Arg839Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525518.1",
"strand": false,
"transcript": "ENST00000855459.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 902,
"aa_ref": "R",
"aa_start": 839,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6519,
"cdna_start": 5198,
"cds_end": null,
"cds_length": 2709,
"cds_start": 2515,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000855460.1",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "c.2515_2517delCGGinsGGC",
"hgvs_p": "p.Arg839Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525519.1",
"strand": false,
"transcript": "ENST00000855460.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 902,
"aa_ref": "R",
"aa_start": 839,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2891,
"cdna_start": 2576,
"cds_end": null,
"cds_length": 2709,
"cds_start": 2515,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000916725.1",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "c.2515_2517delCGGinsGGC",
"hgvs_p": "p.Arg839Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586784.1",
"strand": false,
"transcript": "ENST00000916725.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 902,
"aa_ref": "R",
"aa_start": 839,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3907,
"cdna_start": 2586,
"cds_end": null,
"cds_length": 2709,
"cds_start": 2515,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968923.1",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "c.2515_2517delCGGinsGGC",
"hgvs_p": "p.Arg839Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638982.1",
"strand": false,
"transcript": "ENST00000968923.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 891,
"aa_ref": "R",
"aa_start": 828,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3925,
"cdna_start": 2678,
"cds_end": null,
"cds_length": 2676,
"cds_start": 2482,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000683014.1",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "c.2482_2484delCGGinsGGC",
"hgvs_p": "p.Arg828Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507631.1",
"strand": false,
"transcript": "ENST00000683014.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 885,
"aa_ref": "R",
"aa_start": 822,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2890,
"cdna_start": 2566,
"cds_end": null,
"cds_length": 2658,
"cds_start": 2464,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000916723.1",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "c.2464_2466delCGGinsGGC",
"hgvs_p": "p.Arg822Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586782.1",
"strand": false,
"transcript": "ENST00000916723.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 885,
"aa_ref": "R",
"aa_start": 822,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2866,
"cdna_start": 2546,
"cds_end": null,
"cds_length": 2658,
"cds_start": 2464,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968927.1",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "c.2464_2466delCGGinsGGC",
"hgvs_p": "p.Arg822Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638986.1",
"strand": false,
"transcript": "ENST00000968927.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 875,
"aa_ref": "R",
"aa_start": 812,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2845,
"cdna_start": 2519,
"cds_end": null,
"cds_length": 2628,
"cds_start": 2434,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968926.1",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "c.2434_2436delCGGinsGGC",
"hgvs_p": "p.Arg812Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638985.1",
"strand": false,
"transcript": "ENST00000968926.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 866,
"aa_ref": "R",
"aa_start": 803,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2793,
"cdna_start": 2472,
"cds_end": null,
"cds_length": 2601,
"cds_start": 2407,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968928.1",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "c.2407_2409delCGGinsGGC",
"hgvs_p": "p.Arg803Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638987.1",
"strand": false,
"transcript": "ENST00000968928.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 862,
"aa_ref": "R",
"aa_start": 799,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3262,
"cdna_start": 2591,
"cds_end": null,
"cds_length": 2589,
"cds_start": 2395,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000683383.1",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "c.2395_2397delCGGinsGGC",
"hgvs_p": "p.Arg799Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507601.1",
"strand": false,
"transcript": "ENST00000683383.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 862,
"aa_ref": "R",
"aa_start": 799,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2812,
"cdna_start": 2496,
"cds_end": null,
"cds_length": 2589,
"cds_start": 2395,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968929.1",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "c.2395_2397delCGGinsGGC",
"hgvs_p": "p.Arg799Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638988.1",
"strand": false,
"transcript": "ENST00000968929.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 859,
"aa_ref": "R",
"aa_start": 796,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3253,
"cdna_start": 2582,
"cds_end": null,
"cds_length": 2580,
"cds_start": 2386,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000683060.1",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "c.2386_2388delCGGinsGGC",
"hgvs_p": "p.Arg796Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508258.1",
"strand": false,
"transcript": "ENST00000683060.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 858,
"aa_ref": "R",
"aa_start": 795,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2794,
"cdna_start": 2480,
"cds_end": null,
"cds_length": 2577,
"cds_start": 2383,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000855456.1",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "c.2383_2385delCGGinsGGC",
"hgvs_p": "p.Arg795Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525515.1",
"strand": false,
"transcript": "ENST00000855456.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 854,
"aa_ref": "R",
"aa_start": 791,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2784,
"cdna_start": 2462,
"cds_end": null,
"cds_length": 2565,
"cds_start": 2371,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000855455.1",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "c.2371_2373delCGGinsGGC",
"hgvs_p": "p.Arg791Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525514.1",
"strand": false,
"transcript": "ENST00000855455.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 843,
"aa_ref": "R",
"aa_start": 780,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2718,
"cdna_start": 2403,
"cds_end": null,
"cds_length": 2532,
"cds_start": 2338,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968931.1",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "c.2338_2340delCGGinsGGC",
"hgvs_p": "p.Arg780Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638990.1",
"strand": false,
"transcript": "ENST00000968931.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 819,
"aa_ref": "R",
"aa_start": 756,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2679,
"cdna_start": 2357,
"cds_end": null,
"cds_length": 2460,
"cds_start": 2266,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000916724.1",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "c.2266_2268delCGGinsGGC",
"hgvs_p": "p.Arg756Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586783.1",
"strand": false,
"transcript": "ENST00000916724.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 799,
"aa_ref": "R",
"aa_start": 736,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2593,
"cdna_start": 2271,
"cds_end": null,
"cds_length": 2400,
"cds_start": 2206,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000855458.1",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "c.2206_2208delCGGinsGGC",
"hgvs_p": "p.Arg736Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525517.1",
"strand": false,
"transcript": "ENST00000855458.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 772,
"aa_ref": "R",
"aa_start": 709,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3740,
"cdna_start": 2417,
"cds_end": null,
"cds_length": 2319,
"cds_start": 2125,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001256618.2",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "c.2125_2127delCGGinsGGC",
"hgvs_p": "p.Arg709Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243547.1",
"strand": false,
"transcript": "NM_001256618.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 772,
"aa_ref": "R",
"aa_start": 709,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2749,
"cdna_start": 2423,
"cds_end": null,
"cds_length": 2319,
"cds_start": 2125,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000417178.7",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "c.2125_2127delCGGinsGGC",
"hgvs_p": "p.Arg709Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000395666.2",
"strand": false,
"transcript": "ENST00000417178.7",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2685,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000368562.5",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "n.2366_2368delCGGinsGGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000368562.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 512,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000477923.1",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "n.192_194delCGGinsGGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000477923.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3553,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000482278.5",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "n.*312_*314delCGGinsGGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000436438.1",
"strand": false,
"transcript": "ENST00000482278.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4099,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000682093.1",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "n.*2020_*2022delCGGinsGGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000508354.1",
"strand": false,
"transcript": "ENST00000682093.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5027,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000682256.1",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "n.3742_3744delCGGinsGGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000682256.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4200,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000682332.1",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "n.2951_2953delCGGinsGGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000682332.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2370,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000682591.1",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "n.1697_1699delCGGinsGGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000682591.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4112,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000682631.1",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "n.*2543_*2545delCGGinsGGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000507220.1",
"strand": false,
"transcript": "ENST00000682631.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2669,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000682712.1",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "n.2531_2533delCGGinsGGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000682712.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4052,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000682990.1",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "n.*758_*760delCGGinsGGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000506868.1",
"strand": false,
"transcript": "ENST00000682990.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2877,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000683308.1",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "n.1628_1630delCGGinsGGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000683308.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4281,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000683673.1",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "n.3032_3034delCGGinsGGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000683673.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3876,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000683786.1",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "n.*2322_*2324delCGGinsGGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000508200.1",
"strand": false,
"transcript": "ENST00000683786.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3963,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000683829.1",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "n.*2494_*2496delCGGinsGGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000508146.1",
"strand": false,
"transcript": "ENST00000683829.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4318,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000684478.1",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "n.*2239_*2241delCGGinsGGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000507361.1",
"strand": false,
"transcript": "ENST00000684478.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3927,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000684487.1",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "n.*831_*833delCGGinsGGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000507802.1",
"strand": false,
"transcript": "ENST00000684487.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4560,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NR_046330.2",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "n.3235_3237delCGGinsGGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_046330.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3553,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000482278.5",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "n.*312_*314delCGGinsGGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000436438.1",
"strand": false,
"transcript": "ENST00000482278.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4099,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000682093.1",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "n.*2020_*2022delCGGinsGGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000508354.1",
"strand": false,
"transcript": "ENST00000682093.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4112,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000682631.1",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "n.*2543_*2545delCGGinsGGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000507220.1",
"strand": false,
"transcript": "ENST00000682631.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4052,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000682990.1",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "n.*758_*760delCGGinsGGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000506868.1",
"strand": false,
"transcript": "ENST00000682990.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3876,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000683786.1",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "n.*2322_*2324delCGGinsGGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000508200.1",
"strand": false,
"transcript": "ENST00000683786.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3963,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000683829.1",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "n.*2494_*2496delCGGinsGGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000508146.1",
"strand": false,
"transcript": "ENST00000683829.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4318,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000684478.1",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "n.*2239_*2241delCGGinsGGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000507361.1",
"strand": false,
"transcript": "ENST00000684478.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3927,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000684487.1",
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"hgvs_c": "n.*831_*833delCGGinsGGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000507802.1",
"strand": false,
"transcript": "ENST00000684487.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 18599,
"gene_symbol": "TUBGCP2",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 3.084,
"pos": 133281329,
"ref": "CCG",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001256617.2"
}
]
}