← 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: 11-93730101-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=93730101&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1_Moderate",
"PM2"
],
"effects": [
"stop_gained"
],
"gene_symbol": "CEP295",
"hgnc_id": 29366,
"hgvs_c": "c.7720C>T",
"hgvs_p": "p.Gln2574*",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_033395.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "TAF1D",
"hgnc_id": 28759,
"hgvs_c": "n.*1350G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "ENST00000323981.6",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,PM2",
"acmg_score": 4,
"allele_count_reference_population": 9,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.53,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.5299999713897705,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2601,
"aa_ref": "Q",
"aa_start": 2574,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8014,
"cdna_start": 7839,
"cds_end": null,
"cds_length": 7806,
"cds_start": 7720,
"consequences": [
"stop_gained"
],
"exon_count": 30,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "NM_033395.2",
"gene_hgnc_id": 29366,
"gene_symbol": "CEP295",
"hgvs_c": "c.7720C>T",
"hgvs_p": "p.Gln2574*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000325212.11",
"protein_coding": true,
"protein_id": "NP_203753.1",
"strand": true,
"transcript": "NM_033395.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2601,
"aa_ref": "Q",
"aa_start": 2574,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8014,
"cdna_start": 7839,
"cds_end": null,
"cds_length": 7806,
"cds_start": 7720,
"consequences": [
"stop_gained"
],
"exon_count": 30,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000325212.11",
"gene_hgnc_id": 29366,
"gene_symbol": "CEP295",
"hgvs_c": "c.7720C>T",
"hgvs_p": "p.Gln2574*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_033395.2",
"protein_coding": true,
"protein_id": "ENSP00000316681.6",
"strand": true,
"transcript": "ENST00000325212.11",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 781,
"aa_ref": "Q",
"aa_start": 754,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2890,
"cdna_start": 2717,
"cds_end": null,
"cds_length": 2346,
"cds_start": 2260,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000531700.5",
"gene_hgnc_id": 29366,
"gene_symbol": "CEP295",
"hgvs_c": "c.2260C>T",
"hgvs_p": "p.Gln754*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437323.1",
"strand": true,
"transcript": "ENST00000531700.5",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2645,
"aa_ref": "Q",
"aa_start": 2588,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8138,
"cdna_start": 7881,
"cds_end": null,
"cds_length": 7938,
"cds_start": 7762,
"consequences": [
"stop_gained"
],
"exon_count": 29,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "XM_011543047.2",
"gene_hgnc_id": 29366,
"gene_symbol": "CEP295",
"hgvs_c": "c.7762C>T",
"hgvs_p": "p.Gln2588*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011541349.1",
"strand": true,
"transcript": "XM_011543047.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2644,
"aa_ref": "Q",
"aa_start": 2587,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8135,
"cdna_start": 7878,
"cds_end": null,
"cds_length": 7935,
"cds_start": 7759,
"consequences": [
"stop_gained"
],
"exon_count": 29,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "XM_017018470.2",
"gene_hgnc_id": 29366,
"gene_symbol": "CEP295",
"hgvs_c": "c.7759C>T",
"hgvs_p": "p.Gln2587*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016873959.1",
"strand": true,
"transcript": "XM_017018470.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2632,
"aa_ref": "Q",
"aa_start": 2575,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8099,
"cdna_start": 7842,
"cds_end": null,
"cds_length": 7899,
"cds_start": 7723,
"consequences": [
"stop_gained"
],
"exon_count": 29,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "XM_011543048.2",
"gene_hgnc_id": 29366,
"gene_symbol": "CEP295",
"hgvs_c": "c.7723C>T",
"hgvs_p": "p.Gln2575*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011541350.1",
"strand": true,
"transcript": "XM_011543048.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2631,
"aa_ref": "Q",
"aa_start": 2574,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8096,
"cdna_start": 7839,
"cds_end": null,
"cds_length": 7896,
"cds_start": 7720,
"consequences": [
"stop_gained"
],
"exon_count": 29,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "XM_047427788.1",
"gene_hgnc_id": 29366,
"gene_symbol": "CEP295",
"hgvs_c": "c.7720C>T",
"hgvs_p": "p.Gln2574*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283744.1",
"strand": true,
"transcript": "XM_047427788.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2615,
"aa_ref": "Q",
"aa_start": 2588,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8056,
"cdna_start": 7881,
"cds_end": null,
"cds_length": 7848,
"cds_start": 7762,
"consequences": [
"stop_gained"
],
"exon_count": 30,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "XM_005274366.2",
"gene_hgnc_id": 29366,
"gene_symbol": "CEP295",
"hgvs_c": "c.7762C>T",
"hgvs_p": "p.Gln2588*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005274423.1",
"strand": true,
"transcript": "XM_005274366.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2614,
"aa_ref": "Q",
"aa_start": 2587,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8053,
"cdna_start": 7878,
"cds_end": null,
"cds_length": 7845,
"cds_start": 7759,
"consequences": [
"stop_gained"
],
"exon_count": 30,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "XM_005274367.3",
"gene_hgnc_id": 29366,
"gene_symbol": "CEP295",
"hgvs_c": "c.7759C>T",
"hgvs_p": "p.Gln2587*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005274424.1",
"strand": true,
"transcript": "XM_005274367.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2597,
"aa_ref": "Q",
"aa_start": 2540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7994,
"cdna_start": 7737,
"cds_end": null,
"cds_length": 7794,
"cds_start": 7618,
"consequences": [
"stop_gained"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "XM_011543049.2",
"gene_hgnc_id": 29366,
"gene_symbol": "CEP295",
"hgvs_c": "c.7618C>T",
"hgvs_p": "p.Gln2540*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011541351.1",
"strand": true,
"transcript": "XM_011543049.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2596,
"aa_ref": "Q",
"aa_start": 2539,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7991,
"cdna_start": 7734,
"cds_end": null,
"cds_length": 7791,
"cds_start": 7615,
"consequences": [
"stop_gained"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "XM_017018471.2",
"gene_hgnc_id": 29366,
"gene_symbol": "CEP295",
"hgvs_c": "c.7615C>T",
"hgvs_p": "p.Gln2539*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016873960.1",
"strand": true,
"transcript": "XM_017018471.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2584,
"aa_ref": "Q",
"aa_start": 2527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7955,
"cdna_start": 7698,
"cds_end": null,
"cds_length": 7755,
"cds_start": 7579,
"consequences": [
"stop_gained"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "XM_047427789.1",
"gene_hgnc_id": 29366,
"gene_symbol": "CEP295",
"hgvs_c": "c.7579C>T",
"hgvs_p": "p.Gln2527*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283745.1",
"strand": true,
"transcript": "XM_047427789.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2583,
"aa_ref": "Q",
"aa_start": 2526,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7952,
"cdna_start": 7695,
"cds_end": null,
"cds_length": 7752,
"cds_start": 7576,
"consequences": [
"stop_gained"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "XM_047427790.1",
"gene_hgnc_id": 29366,
"gene_symbol": "CEP295",
"hgvs_c": "c.7576C>T",
"hgvs_p": "p.Gln2526*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283746.1",
"strand": true,
"transcript": "XM_047427790.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2567,
"aa_ref": "Q",
"aa_start": 2540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7912,
"cdna_start": 7737,
"cds_end": null,
"cds_length": 7704,
"cds_start": 7618,
"consequences": [
"stop_gained"
],
"exon_count": 29,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "XM_017018472.2",
"gene_hgnc_id": 29366,
"gene_symbol": "CEP295",
"hgvs_c": "c.7618C>T",
"hgvs_p": "p.Gln2540*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016873961.1",
"strand": true,
"transcript": "XM_017018472.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2566,
"aa_ref": "Q",
"aa_start": 2539,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7909,
"cdna_start": 7734,
"cds_end": null,
"cds_length": 7701,
"cds_start": 7615,
"consequences": [
"stop_gained"
],
"exon_count": 29,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "XM_005274368.3",
"gene_hgnc_id": 29366,
"gene_symbol": "CEP295",
"hgvs_c": "c.7615C>T",
"hgvs_p": "p.Gln2539*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005274425.1",
"strand": true,
"transcript": "XM_005274368.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2554,
"aa_ref": "Q",
"aa_start": 2527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7873,
"cdna_start": 7698,
"cds_end": null,
"cds_length": 7665,
"cds_start": 7579,
"consequences": [
"stop_gained"
],
"exon_count": 29,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "XM_047427791.1",
"gene_hgnc_id": 29366,
"gene_symbol": "CEP295",
"hgvs_c": "c.7579C>T",
"hgvs_p": "p.Gln2527*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283747.1",
"strand": true,
"transcript": "XM_047427791.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2553,
"aa_ref": "Q",
"aa_start": 2526,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7870,
"cdna_start": 7695,
"cds_end": null,
"cds_length": 7662,
"cds_start": 7576,
"consequences": [
"stop_gained"
],
"exon_count": 29,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "XM_047427792.1",
"gene_hgnc_id": 29366,
"gene_symbol": "CEP295",
"hgvs_c": "c.7576C>T",
"hgvs_p": "p.Gln2526*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283748.1",
"strand": true,
"transcript": "XM_047427792.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2412,
"aa_ref": "Q",
"aa_start": 2355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7516,
"cdna_start": 7259,
"cds_end": null,
"cds_length": 7239,
"cds_start": 7063,
"consequences": [
"stop_gained"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_017018474.3",
"gene_hgnc_id": 29366,
"gene_symbol": "CEP295",
"hgvs_c": "c.7063C>T",
"hgvs_p": "p.Gln2355*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016873963.1",
"strand": true,
"transcript": "XM_017018474.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2412,
"aa_ref": "Q",
"aa_start": 2355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7512,
"cdna_start": 7255,
"cds_end": null,
"cds_length": 7239,
"cds_start": 7063,
"consequences": [
"stop_gained"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_047427794.1",
"gene_hgnc_id": 29366,
"gene_symbol": "CEP295",
"hgvs_c": "c.7063C>T",
"hgvs_p": "p.Gln2355*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283750.1",
"strand": true,
"transcript": "XM_047427794.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2133,
"aa_ref": "Q",
"aa_start": 2076,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6588,
"cdna_start": 6331,
"cds_end": null,
"cds_length": 6402,
"cds_start": 6226,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_011543053.3",
"gene_hgnc_id": 29366,
"gene_symbol": "CEP295",
"hgvs_c": "c.6226C>T",
"hgvs_p": "p.Gln2076*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011541355.1",
"strand": true,
"transcript": "XM_011543053.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2133,
"aa_ref": "Q",
"aa_start": 2076,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6553,
"cdna_start": 6296,
"cds_end": null,
"cds_length": 6402,
"cds_start": 6226,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047427795.1",
"gene_hgnc_id": 29366,
"gene_symbol": "CEP295",
"hgvs_c": "c.6226C>T",
"hgvs_p": "p.Gln2076*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283751.1",
"strand": true,
"transcript": "XM_047427795.1",
"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": 2540,
"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": "ENST00000323981.6",
"gene_hgnc_id": 28759,
"gene_symbol": "TAF1D",
"hgvs_c": "n.*1350G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000314971.2",
"strand": false,
"transcript": "ENST00000323981.6",
"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": 2540,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000323981.6",
"gene_hgnc_id": 28759,
"gene_symbol": "TAF1D",
"hgvs_c": "n.*1350G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000314971.2",
"strand": false,
"transcript": "ENST00000323981.6",
"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": 1735,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000526015.5",
"gene_hgnc_id": 28759,
"gene_symbol": "TAF1D",
"hgvs_c": "n.*792G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000435087.1",
"strand": true,
"transcript": "ENST00000526015.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 578,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2294,
"cdna_start": null,
"cds_end": null,
"cds_length": 1738,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000531404.1",
"gene_hgnc_id": 29366,
"gene_symbol": "CEP295",
"hgvs_c": "c.*21C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433650.1",
"strand": true,
"transcript": "ENST00000531404.1",
"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": 547,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000393259.6",
"gene_hgnc_id": 28759,
"gene_symbol": "TAF1D",
"hgvs_c": "n.*592G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000376944.2",
"strand": true,
"transcript": "ENST00000393259.6",
"transcript_support_level": 3
},
{
"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": 1710,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000525928.5",
"gene_hgnc_id": 28759,
"gene_symbol": "TAF1D",
"hgvs_c": "n.*182G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000525928.5",
"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": 4358,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000530769.5",
"gene_hgnc_id": 28759,
"gene_symbol": "TAF1D",
"hgvs_c": "n.*181G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000530769.5",
"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": 656,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000534079.5",
"gene_hgnc_id": 28759,
"gene_symbol": "TAF1D",
"hgvs_c": "n.*99G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000534079.5",
"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": 1728,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000546088.5",
"gene_hgnc_id": 28759,
"gene_symbol": "TAF1D",
"hgvs_c": "n.*171G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000546088.5",
"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": 1737,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_146090.2",
"gene_hgnc_id": 28759,
"gene_symbol": "TAF1D",
"hgvs_c": "n.*93G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_146090.2",
"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": 1629,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_146091.2",
"gene_hgnc_id": 28759,
"gene_symbol": "TAF1D",
"hgvs_c": "n.*93G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_146091.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1048439804",
"effect": "stop_gained",
"frequency_reference_population": 0.0000064335713,
"gene_hgnc_id": 29366,
"gene_symbol": "CEP295",
"gnomad_exomes_ac": 9,
"gnomad_exomes_af": 0.00000643357,
"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": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.848,
"pos": 93730101,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.10000000149011612,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.1,
"transcript": "NM_033395.2"
}
]
}