← 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: 2-47073806-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=47073806&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "TTC7A",
"hgnc_id": 19750,
"hgvs_c": "c.2532C>T",
"hgvs_p": "p.Gly844Gly",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_001288951.2",
"verdict": "Benign"
},
{
"benign_score": 16,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000273269",
"hgnc_id": null,
"hgvs_c": "n.*656-7669G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -16,
"transcript": "ENST00000422269.1",
"verdict": "Benign"
},
{
"benign_score": 16,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "STPG4",
"hgnc_id": 26850,
"hgvs_c": "n.399-7669G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -16,
"transcript": "ENST00000464527.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_score": -21,
"allele_count_reference_population": 5475,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.6,
"chr": "2",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Multiple gastrointestinal atresias,TTC7A-related disorder,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6000000238418579,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 858,
"aa_ref": "G",
"aa_start": 820,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5095,
"cdna_start": 2778,
"cds_end": null,
"cds_length": 2577,
"cds_start": 2460,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_020458.4",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.2460C>T",
"hgvs_p": "p.Gly820Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000319190.11",
"protein_coding": true,
"protein_id": "NP_065191.2",
"strand": true,
"transcript": "NM_020458.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 858,
"aa_ref": "G",
"aa_start": 820,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5095,
"cdna_start": 2778,
"cds_end": null,
"cds_length": 2577,
"cds_start": 2460,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000319190.11",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.2460C>T",
"hgvs_p": "p.Gly820Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020458.4",
"protein_coding": true,
"protein_id": "ENSP00000316699.5",
"strand": true,
"transcript": "ENST00000319190.11",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 882,
"aa_ref": "G",
"aa_start": 844,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4306,
"cdna_start": 2788,
"cds_end": null,
"cds_length": 2649,
"cds_start": 2532,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000394850.6",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.2532C>T",
"hgvs_p": "p.Gly844Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378320.2",
"strand": true,
"transcript": "ENST00000394850.6",
"transcript_support_level": 1
},
{
"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": 4739,
"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": "ENST00000409825.5",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "n.*2209C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000386521.1",
"strand": true,
"transcript": "ENST00000409825.5",
"transcript_support_level": 1
},
{
"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": 2418,
"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": "ENST00000441914.5",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "n.*1309C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000393022.1",
"strand": true,
"transcript": "ENST00000441914.5",
"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": 3085,
"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": "ENST00000484061.5",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "n.1567C>T",
"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": "ENST00000484061.5",
"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": 3615,
"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": "ENST00000491786.5",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "n.1864C>T",
"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": "ENST00000491786.5",
"transcript_support_level": 1
},
{
"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": 4739,
"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": "ENST00000409825.5",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "n.*2209C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000386521.1",
"strand": true,
"transcript": "ENST00000409825.5",
"transcript_support_level": 1
},
{
"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": 2418,
"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": "ENST00000441914.5",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "n.*1309C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000393022.1",
"strand": true,
"transcript": "ENST00000441914.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 983,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000422269.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000273269",
"hgvs_c": "n.*656-7669G>A",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000476793.1",
"strand": false,
"transcript": "ENST00000422269.1",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 901,
"aa_ref": "G",
"aa_start": 863,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4648,
"cdna_start": 2904,
"cds_end": null,
"cds_length": 2706,
"cds_start": 2589,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000956434.1",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.2589C>T",
"hgvs_p": "p.Gly863Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626493.1",
"strand": true,
"transcript": "ENST00000956434.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 882,
"aa_ref": "G",
"aa_start": 844,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5167,
"cdna_start": 2850,
"cds_end": null,
"cds_length": 2649,
"cds_start": 2532,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001288951.2",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.2532C>T",
"hgvs_p": "p.Gly844Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275880.1",
"strand": true,
"transcript": "NM_001288951.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 882,
"aa_ref": "G",
"aa_start": 844,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5140,
"cdna_start": 2829,
"cds_end": null,
"cds_length": 2649,
"cds_start": 2532,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000956433.1",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.2532C>T",
"hgvs_p": "p.Gly844Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626492.1",
"strand": true,
"transcript": "ENST00000956433.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 850,
"aa_ref": "G",
"aa_start": 812,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3087,
"cdna_start": 2752,
"cds_end": null,
"cds_length": 2553,
"cds_start": 2436,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000895463.1",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.2436C>T",
"hgvs_p": "p.Gly812Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565522.1",
"strand": true,
"transcript": "ENST00000895463.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 840,
"aa_ref": "G",
"aa_start": 802,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3060,
"cdna_start": 2722,
"cds_end": null,
"cds_length": 2523,
"cds_start": 2406,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000895461.1",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.2406C>T",
"hgvs_p": "p.Gly802Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565520.1",
"strand": true,
"transcript": "ENST00000895461.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 824,
"aa_ref": "G",
"aa_start": 786,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5399,
"cdna_start": 3082,
"cds_end": null,
"cds_length": 2475,
"cds_start": 2358,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001288953.2",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.2358C>T",
"hgvs_p": "p.Gly786Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275882.1",
"strand": true,
"transcript": "NM_001288953.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 824,
"aa_ref": "G",
"aa_start": 786,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3033,
"cdna_start": 2791,
"cds_end": null,
"cds_length": 2475,
"cds_start": 2358,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000409245.5",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.2358C>T",
"hgvs_p": "p.Gly786Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386307.1",
"strand": true,
"transcript": "ENST00000409245.5",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 819,
"aa_ref": "G",
"aa_start": 781,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4970,
"cdna_start": 2656,
"cds_end": null,
"cds_length": 2460,
"cds_start": 2343,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000895460.1",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.2343C>T",
"hgvs_p": "p.Gly781Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565519.1",
"strand": true,
"transcript": "ENST00000895460.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 813,
"aa_ref": "G",
"aa_start": 775,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2976,
"cdna_start": 2641,
"cds_end": null,
"cds_length": 2442,
"cds_start": 2325,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000895464.1",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.2325C>T",
"hgvs_p": "p.Gly775Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565523.1",
"strand": true,
"transcript": "ENST00000895464.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 784,
"aa_ref": "G",
"aa_start": 746,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4089,
"cdna_start": 2571,
"cds_end": null,
"cds_length": 2355,
"cds_start": 2238,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000937410.1",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.2238C>T",
"hgvs_p": "p.Gly746Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607469.1",
"strand": true,
"transcript": "ENST00000937410.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 775,
"aa_ref": "G",
"aa_start": 737,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2769,
"cdna_start": 2527,
"cds_end": null,
"cds_length": 2328,
"cds_start": 2211,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000895465.1",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.2211C>T",
"hgvs_p": "p.Gly737Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565524.1",
"strand": true,
"transcript": "ENST00000895465.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 774,
"aa_ref": "G",
"aa_start": 736,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2468,
"cdna_start": 2220,
"cds_end": null,
"cds_length": 2325,
"cds_start": 2208,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000895466.1",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.2208C>T",
"hgvs_p": "p.Gly736Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565525.1",
"strand": true,
"transcript": "ENST00000895466.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 758,
"aa_ref": "G",
"aa_start": 720,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2813,
"cdna_start": 2478,
"cds_end": null,
"cds_length": 2277,
"cds_start": 2160,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000895462.1",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.2160C>T",
"hgvs_p": "p.Gly720Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565521.1",
"strand": true,
"transcript": "ENST00000895462.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 730,
"aa_ref": "G",
"aa_start": 692,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4706,
"cdna_start": 2381,
"cds_end": null,
"cds_length": 2193,
"cds_start": 2076,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000937409.1",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.2076C>T",
"hgvs_p": "p.Gly692Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607468.1",
"strand": true,
"transcript": "ENST00000937409.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 701,
"aa_ref": "G",
"aa_start": 663,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2546,
"cdna_start": 2304,
"cds_end": null,
"cds_length": 2106,
"cds_start": 1989,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000937411.1",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.1989C>T",
"hgvs_p": "p.Gly663Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607470.1",
"strand": true,
"transcript": "ENST00000937411.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 504,
"aa_ref": "G",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4937,
"cdna_start": 2620,
"cds_end": null,
"cds_length": 1515,
"cds_start": 1398,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001288955.2",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.1398C>T",
"hgvs_p": "p.Gly466Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275884.1",
"strand": true,
"transcript": "NM_001288955.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 819,
"aa_ref": "G",
"aa_start": 781,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4978,
"cdna_start": 2661,
"cds_end": null,
"cds_length": 2460,
"cds_start": 2343,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_017004524.2",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.2343C>T",
"hgvs_p": "p.Gly781Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016860013.1",
"strand": true,
"transcript": "XM_017004524.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 802,
"aa_ref": "G",
"aa_start": 764,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5431,
"cdna_start": 3114,
"cds_end": null,
"cds_length": 2409,
"cds_start": 2292,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_017004525.2",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.2292C>T",
"hgvs_p": "p.Gly764Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016860014.1",
"strand": true,
"transcript": "XM_017004525.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 775,
"aa_ref": "G",
"aa_start": 737,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4846,
"cdna_start": 2529,
"cds_end": null,
"cds_length": 2328,
"cds_start": 2211,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_017004526.2",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.2211C>T",
"hgvs_p": "p.Gly737Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016860015.1",
"strand": true,
"transcript": "XM_017004526.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 770,
"aa_ref": "G",
"aa_start": 732,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4685,
"cdna_start": 2368,
"cds_end": null,
"cds_length": 2313,
"cds_start": 2196,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_047445148.1",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.2196C>T",
"hgvs_p": "p.Gly732Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047301104.1",
"strand": true,
"transcript": "XM_047445148.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 739,
"aa_ref": "G",
"aa_start": 701,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4487,
"cdna_start": 2170,
"cds_end": null,
"cds_length": 2220,
"cds_start": 2103,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047445145.1",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.2103C>T",
"hgvs_p": "p.Gly701Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047301101.1",
"strand": true,
"transcript": "XM_047445145.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 736,
"aa_ref": "G",
"aa_start": 698,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4729,
"cdna_start": 2412,
"cds_end": null,
"cds_length": 2211,
"cds_start": 2094,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047445146.1",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.2094C>T",
"hgvs_p": "p.Gly698Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047301102.1",
"strand": true,
"transcript": "XM_047445146.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 598,
"aa_ref": "G",
"aa_start": 560,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4261,
"cdna_start": 1944,
"cds_end": null,
"cds_length": 1797,
"cds_start": 1680,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_011533000.4",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.1680C>T",
"hgvs_p": "p.Gly560Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531302.1",
"strand": true,
"transcript": "XM_011533000.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 513,
"aa_ref": "G",
"aa_start": 475,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3827,
"cdna_start": 1510,
"cds_end": null,
"cds_length": 1542,
"cds_start": 1425,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_024453013.2",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.1425C>T",
"hgvs_p": "p.Gly475Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024308781.1",
"strand": true,
"transcript": "XM_024453013.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 509,
"aa_ref": "G",
"aa_start": 471,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4019,
"cdna_start": 1702,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1413,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_011533001.4",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "c.1413C>T",
"hgvs_p": "p.Gly471Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531303.1",
"strand": true,
"transcript": "XM_011533001.4",
"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": 3358,
"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": "ENST00000651101.1",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "n.1058C>T",
"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": "ENST00000651101.1",
"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": 3557,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000651415.1",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "n.1251C>T",
"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": "ENST00000651415.1",
"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": 2787,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000652236.1",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "n.1161C>T",
"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": "ENST00000652236.1",
"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": 2864,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000652568.1",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "n.1133C>T",
"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": "ENST00000652568.1",
"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": 6587,
"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": "ENST00000698500.1",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "n.4293C>T",
"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": "ENST00000698500.1",
"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": 4766,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000698503.1",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "n.2466C>T",
"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": "ENST00000698503.1",
"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": 779,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000464527.2",
"gene_hgnc_id": 26850,
"gene_symbol": "STPG4",
"hgvs_c": "n.399-7669G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000464527.2",
"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": 771,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000482548.1",
"gene_hgnc_id": 26850,
"gene_symbol": "STPG4",
"hgvs_c": "n.402-5250G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000482548.1",
"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": 565,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000496939.1",
"gene_hgnc_id": 26850,
"gene_symbol": "STPG4",
"hgvs_c": "n.416-26887G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000496939.1",
"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": 531,
"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": "ENST00000698504.1",
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"hgvs_c": "n.*10C>T",
"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": "ENST00000698504.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs58422168",
"effect": "synonymous_variant",
"frequency_reference_population": 0.0033930049,
"gene_hgnc_id": 19750,
"gene_symbol": "TTC7A",
"gnomad_exomes_ac": 5086,
"gnomad_exomes_af": 0.00348035,
"gnomad_exomes_homalt": 19,
"gnomad_genomes_ac": 389,
"gnomad_genomes_af": 0.00255474,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 19,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign/Likely benign",
"phenotype_combined": "Multiple gastrointestinal atresias|not provided|TTC7A-related disorder",
"phylop100way_prediction": "Benign",
"phylop100way_score": -3.845,
"pos": 47073806,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_001288951.2"
}
]
}