← 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: 8-139731094-ACT-TCG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=139731094&ref=ACT&alt=TCG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "TRAPPC9",
"hgnc_id": 30832,
"hgvs_c": "c.3433_3435delAGTinsCGA",
"hgvs_p": "p.Ser1145Arg",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001374682.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TCG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "8",
"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": "R",
"aa_end": null,
"aa_length": 1148,
"aa_ref": "S",
"aa_start": 1138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6899,
"cdna_start": 3530,
"cds_end": null,
"cds_length": 3447,
"cds_start": 3412,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001160372.4",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "c.3412_3414delAGTinsCGA",
"hgvs_p": "p.Ser1138Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000438773.4",
"protein_coding": true,
"protein_id": "NP_001153844.1",
"strand": false,
"transcript": "NM_001160372.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1148,
"aa_ref": "S",
"aa_start": 1138,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6899,
"cdna_start": 3530,
"cds_end": null,
"cds_length": 3447,
"cds_start": 3412,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000438773.4",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "c.3412_3414delAGTinsCGA",
"hgvs_p": "p.Ser1138Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001160372.4",
"protein_coding": true,
"protein_id": "ENSP00000405060.3",
"strand": false,
"transcript": "ENST00000438773.4",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 991,
"aa_ref": "S",
"aa_start": 981,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3693,
"cdna_start": 2944,
"cds_end": null,
"cds_length": 2976,
"cds_start": 2941,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000520857.5",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "c.2941_2943delAGTinsCGA",
"hgvs_p": "p.Ser981Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430116.1",
"strand": false,
"transcript": "ENST00000520857.5",
"transcript_support_level": 1
},
{
"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": 2021,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000521667.5",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "n.1817_1819delAGTinsCGA",
"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": "ENST00000521667.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1155,
"aa_ref": "S",
"aa_start": 1145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6920,
"cdna_start": 3551,
"cds_end": null,
"cds_length": 3468,
"cds_start": 3433,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001374682.1",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "c.3433_3435delAGTinsCGA",
"hgvs_p": "p.Ser1145Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361611.1",
"strand": false,
"transcript": "NM_001374682.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1155,
"aa_ref": "S",
"aa_start": 1145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4300,
"cdna_start": 3551,
"cds_end": null,
"cds_length": 3468,
"cds_start": 3433,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000889106.1",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "c.3433_3435delAGTinsCGA",
"hgvs_p": "p.Ser1145Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559165.1",
"strand": false,
"transcript": "ENST00000889106.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1148,
"aa_ref": "S",
"aa_start": 1138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7092,
"cdna_start": 3723,
"cds_end": null,
"cds_length": 3447,
"cds_start": 3412,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_031466.8",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "c.3412_3414delAGTinsCGA",
"hgvs_p": "p.Ser1138Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_113654.5",
"strand": false,
"transcript": "NM_031466.8",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1148,
"aa_ref": "S",
"aa_start": 1138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7092,
"cdna_start": 3723,
"cds_end": null,
"cds_length": 3447,
"cds_start": 3412,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000648948.2",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "c.3412_3414delAGTinsCGA",
"hgvs_p": "p.Ser1138Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498020.1",
"strand": false,
"transcript": "ENST00000648948.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1148,
"aa_ref": "S",
"aa_start": 1138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4356,
"cdna_start": 3606,
"cds_end": null,
"cds_length": 3447,
"cds_start": 3412,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000889103.1",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "c.3412_3414delAGTinsCGA",
"hgvs_p": "p.Ser1138Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559162.1",
"strand": false,
"transcript": "ENST00000889103.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1148,
"aa_ref": "S",
"aa_start": 1138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4283,
"cdna_start": 3534,
"cds_end": null,
"cds_length": 3447,
"cds_start": 3412,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000889105.1",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "c.3412_3414delAGTinsCGA",
"hgvs_p": "p.Ser1138Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559164.1",
"strand": false,
"transcript": "ENST00000889105.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1148,
"aa_ref": "S",
"aa_start": 1138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4265,
"cdna_start": 3515,
"cds_end": null,
"cds_length": 3447,
"cds_start": 3412,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000889109.1",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "c.3412_3414delAGTinsCGA",
"hgvs_p": "p.Ser1138Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559168.1",
"strand": false,
"transcript": "ENST00000889109.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1146,
"aa_ref": "S",
"aa_start": 1136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4307,
"cdna_start": 3558,
"cds_end": null,
"cds_length": 3441,
"cds_start": 3406,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000967712.1",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "c.3406_3408delAGTinsCGA",
"hgvs_p": "p.Ser1136Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637771.1",
"strand": false,
"transcript": "ENST00000967712.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1139,
"aa_ref": "S",
"aa_start": 1129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6872,
"cdna_start": 3503,
"cds_end": null,
"cds_length": 3420,
"cds_start": 3385,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001321646.2",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "c.3385_3387delAGTinsCGA",
"hgvs_p": "p.Ser1129Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308575.1",
"strand": false,
"transcript": "NM_001321646.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1137,
"aa_ref": "S",
"aa_start": 1127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5375,
"cdna_start": 3500,
"cds_end": null,
"cds_length": 3414,
"cds_start": 3379,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000920031.1",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "c.3379_3381delAGTinsCGA",
"hgvs_p": "p.Ser1127Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590090.1",
"strand": false,
"transcript": "ENST00000920031.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1136,
"aa_ref": "S",
"aa_start": 1126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4223,
"cdna_start": 3476,
"cds_end": null,
"cds_length": 3411,
"cds_start": 3376,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000920035.1",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "c.3376_3378delAGTinsCGA",
"hgvs_p": "p.Ser1126Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590094.1",
"strand": false,
"transcript": "ENST00000920035.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1111,
"aa_ref": "S",
"aa_start": 1101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6788,
"cdna_start": 3419,
"cds_end": null,
"cds_length": 3336,
"cds_start": 3301,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001374683.1",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "c.3301_3303delAGTinsCGA",
"hgvs_p": "p.Ser1101Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361612.1",
"strand": false,
"transcript": "NM_001374683.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1111,
"aa_ref": "S",
"aa_start": 1101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4186,
"cdna_start": 3438,
"cds_end": null,
"cds_length": 3336,
"cds_start": 3301,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000967713.1",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "c.3301_3303delAGTinsCGA",
"hgvs_p": "p.Ser1101Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637772.1",
"strand": false,
"transcript": "ENST00000967713.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1105,
"aa_ref": "S",
"aa_start": 1095,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4149,
"cdna_start": 3401,
"cds_end": null,
"cds_length": 3318,
"cds_start": 3283,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000889107.1",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "c.3283_3285delAGTinsCGA",
"hgvs_p": "p.Ser1095Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559166.1",
"strand": false,
"transcript": "ENST00000889107.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1102,
"aa_ref": "S",
"aa_start": 1092,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4138,
"cdna_start": 3389,
"cds_end": null,
"cds_length": 3309,
"cds_start": 3274,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000920033.1",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "c.3274_3276delAGTinsCGA",
"hgvs_p": "p.Ser1092Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590092.1",
"strand": false,
"transcript": "ENST00000920033.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1100,
"aa_ref": "S",
"aa_start": 1090,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6755,
"cdna_start": 3386,
"cds_end": null,
"cds_length": 3303,
"cds_start": 3268,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001374684.1",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "c.3268_3270delAGTinsCGA",
"hgvs_p": "p.Ser1090Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361613.1",
"strand": false,
"transcript": "NM_001374684.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1100,
"aa_ref": "S",
"aa_start": 1090,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4150,
"cdna_start": 3386,
"cds_end": null,
"cds_length": 3303,
"cds_start": 3268,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000889102.1",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "c.3268_3270delAGTinsCGA",
"hgvs_p": "p.Ser1090Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559161.1",
"strand": false,
"transcript": "ENST00000889102.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1096,
"aa_ref": "S",
"aa_start": 1086,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4120,
"cdna_start": 3371,
"cds_end": null,
"cds_length": 3291,
"cds_start": 3256,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000889108.1",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "c.3256_3258delAGTinsCGA",
"hgvs_p": "p.Ser1086Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559167.1",
"strand": false,
"transcript": "ENST00000889108.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1096,
"aa_ref": "S",
"aa_start": 1086,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4259,
"cdna_start": 3510,
"cds_end": null,
"cds_length": 3291,
"cds_start": 3256,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000920032.1",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "c.3256_3258delAGTinsCGA",
"hgvs_p": "p.Ser1086Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590091.1",
"strand": false,
"transcript": "ENST00000920032.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1088,
"aa_ref": "S",
"aa_start": 1078,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4061,
"cdna_start": 3312,
"cds_end": null,
"cds_length": 3267,
"cds_start": 3232,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000920036.1",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "c.3232_3234delAGTinsCGA",
"hgvs_p": "p.Ser1078Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590095.1",
"strand": false,
"transcript": "ENST00000920036.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1077,
"aa_ref": "S",
"aa_start": 1067,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4069,
"cdna_start": 3320,
"cds_end": null,
"cds_length": 3234,
"cds_start": 3199,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000889104.1",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "c.3199_3201delAGTinsCGA",
"hgvs_p": "p.Ser1067Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559163.1",
"strand": false,
"transcript": "ENST00000889104.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1068,
"aa_ref": "S",
"aa_start": 1058,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4034,
"cdna_start": 3284,
"cds_end": null,
"cds_length": 3207,
"cds_start": 3172,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000920034.1",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "c.3172_3174delAGTinsCGA",
"hgvs_p": "p.Ser1058Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590093.1",
"strand": false,
"transcript": "ENST00000920034.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1068,
"aa_ref": "S",
"aa_start": 1058,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4034,
"cdna_start": 3286,
"cds_end": null,
"cds_length": 3207,
"cds_start": 3172,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000967714.1",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "c.3172_3174delAGTinsCGA",
"hgvs_p": "p.Ser1058Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637773.1",
"strand": false,
"transcript": "ENST00000967714.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1057,
"aa_ref": "S",
"aa_start": 1047,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4199,
"cdna_start": 3450,
"cds_end": null,
"cds_length": 3174,
"cds_start": 3139,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000889101.1",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "c.3139_3141delAGTinsCGA",
"hgvs_p": "p.Ser1047Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559160.1",
"strand": false,
"transcript": "ENST00000889101.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1237,
"aa_ref": "S",
"aa_start": 1227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7065,
"cdna_start": 3696,
"cds_end": null,
"cds_length": 3714,
"cds_start": 3679,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011517326.3",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "c.3679_3681delAGTinsCGA",
"hgvs_p": "p.Ser1227Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011515628.1",
"strand": false,
"transcript": "XM_011517326.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 688,
"aa_ref": "S",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5788,
"cdna_start": 2419,
"cds_end": null,
"cds_length": 2067,
"cds_start": 2032,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017013894.3",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "c.2032_2034delAGTinsCGA",
"hgvs_p": "p.Ser678Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016869383.1",
"strand": false,
"transcript": "XM_017013894.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 631,
"aa_ref": "S",
"aa_start": 621,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5456,
"cdna_start": 2087,
"cds_end": null,
"cds_length": 1896,
"cds_start": 1861,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011517330.3",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "c.1861_1863delAGTinsCGA",
"hgvs_p": "p.Ser621Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011515632.1",
"strand": false,
"transcript": "XM_011517330.3",
"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": 551,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000519482.1",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "n.499_501delAGTinsCGA",
"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": "ENST00000519482.1",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 548,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000521700.5",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "n.458_460delAGTinsCGA",
"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": "ENST00000521700.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 665,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000522504.5",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "n.565_567delAGTinsCGA",
"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": "ENST00000522504.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 6945,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NR_164662.1",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "n.3574_3576delAGTinsCGA",
"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_164662.1",
"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": 30832,
"gene_symbol": "TRAPPC9",
"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": "Uncertain_significance",
"phylop100way_score": 5.367,
"pos": 139731094,
"ref": "ACT",
"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_001374682.1"
}
]
}