← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 17-8228251-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=8228251&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1_Moderate",
"PS3",
"PP5_Very_Strong"
],
"effects": [
"stop_gained"
],
"gene_symbol": "CTC1",
"hgnc_id": 26169,
"hgvs_c": "c.3583C>T",
"hgvs_p": "p.Arg1195*",
"inheritance_mode": "AR,AD",
"pathogenic_score": 14,
"score": 14,
"transcript": "NM_025099.6",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1_Moderate,PS3,PP5_Very_Strong",
"acmg_score": 14,
"allele_count_reference_population": 14,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.29,
"chr": "17",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": "Cerebroretinal microangiopathy with calcifications and cysts 1,Dyskeratosis congenita,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.28999999165534973,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1217,
"aa_ref": "R",
"aa_start": 1195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7039,
"cdna_start": 3603,
"cds_end": null,
"cds_length": 3654,
"cds_start": 3583,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_025099.6",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "c.3583C>T",
"hgvs_p": "p.Arg1195*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000651323.1",
"protein_coding": true,
"protein_id": "NP_079375.3",
"strand": false,
"transcript": "NM_025099.6",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1217,
"aa_ref": "R",
"aa_start": 1195,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7039,
"cdna_start": 3603,
"cds_end": null,
"cds_length": 3654,
"cds_start": 3583,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000651323.1",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "c.3583C>T",
"hgvs_p": "p.Arg1195*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_025099.6",
"protein_coding": true,
"protein_id": "ENSP00000498499.1",
"strand": false,
"transcript": "ENST00000651323.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1206,
"aa_ref": "R",
"aa_start": 1184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4947,
"cdna_start": 3572,
"cds_end": null,
"cds_length": 3621,
"cds_start": 3550,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000932859.1",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "c.3550C>T",
"hgvs_p": "p.Arg1184*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602918.1",
"strand": false,
"transcript": "ENST00000932859.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1185,
"aa_ref": "R",
"aa_start": 1163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3919,
"cdna_start": 3492,
"cds_end": null,
"cds_length": 3558,
"cds_start": 3487,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000968384.1",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "c.3487C>T",
"hgvs_p": "p.Arg1163*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638443.1",
"strand": false,
"transcript": "ENST00000968384.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1140,
"aa_ref": "R",
"aa_start": 1118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6808,
"cdna_start": 3372,
"cds_end": null,
"cds_length": 3423,
"cds_start": 3352,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001411067.1",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "c.3352C>T",
"hgvs_p": "p.Arg1118*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397996.1",
"strand": false,
"transcript": "NM_001411067.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1140,
"aa_ref": "R",
"aa_start": 1118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3779,
"cdna_start": 3374,
"cds_end": null,
"cds_length": 3423,
"cds_start": 3352,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000581729.2",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "c.3352C>T",
"hgvs_p": "p.Arg1118*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462720.2",
"strand": false,
"transcript": "ENST00000581729.2",
"transcript_support_level": 3
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1129,
"aa_ref": "R",
"aa_start": 1107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3766,
"cdna_start": 3341,
"cds_end": null,
"cds_length": 3390,
"cds_start": 3319,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000580299.2",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "c.3319C>T",
"hgvs_p": "p.Arg1107*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462607.2",
"strand": false,
"transcript": "ENST00000580299.2",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1121,
"aa_ref": "R",
"aa_start": 1099,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3741,
"cdna_start": 3311,
"cds_end": null,
"cds_length": 3366,
"cds_start": 3295,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000932861.1",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "c.3295C>T",
"hgvs_p": "p.Arg1099*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602920.1",
"strand": false,
"transcript": "ENST00000932861.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1115,
"aa_ref": "R",
"aa_start": 1093,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3714,
"cdna_start": 3285,
"cds_end": null,
"cds_length": 3348,
"cds_start": 3277,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000868169.1",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "c.3277C>T",
"hgvs_p": "p.Arg1093*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538228.1",
"strand": false,
"transcript": "ENST00000868169.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1097,
"aa_ref": "R",
"aa_start": 1075,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4593,
"cdna_start": 3229,
"cds_end": null,
"cds_length": 3294,
"cds_start": 3223,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000932860.1",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "c.3223C>T",
"hgvs_p": "p.Arg1075*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602919.1",
"strand": false,
"transcript": "ENST00000932860.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 841,
"aa_ref": "R",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4555,
"cdna_start": 3193,
"cds_end": null,
"cds_length": 2526,
"cds_start": 2455,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000699849.1",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "c.2455C>T",
"hgvs_p": "p.Arg819*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514647.1",
"strand": false,
"transcript": "ENST00000699849.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1182,
"aa_ref": "R",
"aa_start": 1160,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6934,
"cdna_start": 3498,
"cds_end": null,
"cds_length": 3549,
"cds_start": 3478,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_011524010.3",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "c.3478C>T",
"hgvs_p": "p.Arg1160*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011522312.1",
"strand": false,
"transcript": "XM_011524010.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1174,
"aa_ref": "R",
"aa_start": 1152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6910,
"cdna_start": 3474,
"cds_end": null,
"cds_length": 3525,
"cds_start": 3454,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_006721577.4",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "c.3454C>T",
"hgvs_p": "p.Arg1152*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006721640.1",
"strand": false,
"transcript": "XM_006721577.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1139,
"aa_ref": "R",
"aa_start": 1117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6805,
"cdna_start": 3369,
"cds_end": null,
"cds_length": 3420,
"cds_start": 3349,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_047436799.1",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "c.3349C>T",
"hgvs_p": "p.Arg1117*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292755.1",
"strand": false,
"transcript": "XM_047436799.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1105,
"aa_ref": "R",
"aa_start": 1083,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6703,
"cdna_start": 3267,
"cds_end": null,
"cds_length": 3318,
"cds_start": 3247,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_047436801.1",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "c.3247C>T",
"hgvs_p": "p.Arg1083*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292757.1",
"strand": false,
"transcript": "XM_047436801.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1097,
"aa_ref": "R",
"aa_start": 1075,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6679,
"cdna_start": 3243,
"cds_end": null,
"cds_length": 3294,
"cds_start": 3223,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_047436802.1",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "c.3223C>T",
"hgvs_p": "p.Arg1075*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292758.1",
"strand": false,
"transcript": "XM_047436802.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 918,
"aa_ref": "R",
"aa_start": 896,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6465,
"cdna_start": 3029,
"cds_end": null,
"cds_length": 2757,
"cds_start": 2686,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_011524011.3",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "c.2686C>T",
"hgvs_p": "p.Arg896*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011522313.1",
"strand": false,
"transcript": "XM_011524011.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 918,
"aa_ref": "R",
"aa_start": 896,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6461,
"cdna_start": 3025,
"cds_end": null,
"cds_length": 2757,
"cds_start": 2686,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_047436807.1",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "c.2686C>T",
"hgvs_p": "p.Arg896*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292763.1",
"strand": false,
"transcript": "XM_047436807.1",
"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": 4795,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000449476.7",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "n.*317C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000396018.2",
"strand": false,
"transcript": "ENST00000449476.7",
"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": 3887,
"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": "ENST00000581671.2",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "n.3572C>T",
"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": "ENST00000581671.2",
"transcript_support_level": 3
},
{
"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": 4859,
"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": "ENST00000643543.1",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "n.*2290C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000494323.1",
"strand": false,
"transcript": "ENST00000643543.1",
"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": 4876,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000699850.1",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "n.3515C>T",
"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": "ENST00000699850.1",
"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": 5824,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000699851.1",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "n.4469C>T",
"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": "ENST00000699851.1",
"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": 5321,
"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": "ENST00000699852.1",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "n.*2096C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514648.1",
"strand": false,
"transcript": "ENST00000699852.1",
"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": 4791,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000699853.1",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "n.*168C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514649.1",
"strand": false,
"transcript": "ENST00000699853.1",
"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": 4562,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000699854.1",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "n.4142C>T",
"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": "ENST00000699854.1",
"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": 5124,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000699855.1",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "n.4706C>T",
"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": "ENST00000699855.1",
"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": 3905,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000699856.1",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "n.*534C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514650.1",
"strand": false,
"transcript": "ENST00000699856.1",
"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": 4570,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000699857.1",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "n.4162C>T",
"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": "ENST00000699857.1",
"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": 4496,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000699858.1",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "n.*2867C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514651.1",
"strand": false,
"transcript": "ENST00000699858.1",
"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": 3726,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000699859.1",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "n.*319C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514652.1",
"strand": false,
"transcript": "ENST00000699859.1",
"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": 2545,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000699860.1",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "n.2261C>T",
"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": "ENST00000699860.1",
"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": 4330,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000699861.1",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "n.4046C>T",
"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": "ENST00000699861.1",
"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": 6869,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NR_046431.2",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "n.3433C>T",
"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_046431.2",
"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": 4795,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000449476.7",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "n.*317C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000396018.2",
"strand": false,
"transcript": "ENST00000449476.7",
"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": 4859,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000643543.1",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "n.*2290C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000494323.1",
"strand": false,
"transcript": "ENST00000643543.1",
"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": 5321,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000699852.1",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "n.*2096C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514648.1",
"strand": false,
"transcript": "ENST00000699852.1",
"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": 4791,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000699853.1",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "n.*168C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514649.1",
"strand": false,
"transcript": "ENST00000699853.1",
"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": 3905,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000699856.1",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "n.*534C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514650.1",
"strand": false,
"transcript": "ENST00000699856.1",
"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": 4496,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000699858.1",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "n.*2867C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514651.1",
"strand": false,
"transcript": "ENST00000699858.1",
"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": 3726,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000699859.1",
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"hgvs_c": "n.*319C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514652.1",
"strand": false,
"transcript": "ENST00000699859.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs199473682",
"effect": "stop_gained",
"frequency_reference_population": 0.000009576762,
"gene_hgnc_id": 26169,
"gene_symbol": "CTC1",
"gnomad_exomes_ac": 14,
"gnomad_exomes_af": 0.00000957676,
"gnomad_exomes_homalt": 0,
"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": "Pathogenic/Likely pathogenic",
"phenotype_combined": "Cerebroretinal microangiopathy with calcifications and cysts 1|Dyskeratosis congenita|not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.293,
"pos": 8228251,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_025099.6"
}
]
}