← 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: 9-86301431-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=86301431&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TUT7",
"hgnc_id": 25817,
"hgvs_c": "c.4265G>A",
"hgvs_p": "p.Arg1422Gln",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_024617.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000299358",
"hgnc_id": null,
"hgvs_c": "n.447+18829C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000762831.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 92,
"alphamissense_prediction": null,
"alphamissense_score": 0.1132,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.19,
"chr": "9",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.08327421545982361,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1495,
"aa_ref": "R",
"aa_start": 1422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5603,
"cdna_start": 4436,
"cds_end": null,
"cds_length": 4488,
"cds_start": 4265,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_024617.4",
"gene_hgnc_id": 25817,
"gene_symbol": "TUT7",
"hgvs_c": "c.4265G>A",
"hgvs_p": "p.Arg1422Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000375963.8",
"protein_coding": true,
"protein_id": "NP_078893.2",
"strand": false,
"transcript": "NM_024617.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1495,
"aa_ref": "R",
"aa_start": 1422,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5603,
"cdna_start": 4436,
"cds_end": null,
"cds_length": 4488,
"cds_start": 4265,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000375963.8",
"gene_hgnc_id": 25817,
"gene_symbol": "TUT7",
"hgvs_c": "c.4265G>A",
"hgvs_p": "p.Arg1422Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024617.4",
"protein_coding": true,
"protein_id": "ENSP00000365130.3",
"strand": false,
"transcript": "ENST00000375963.8",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1259,
"aa_ref": "R",
"aa_start": 1186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4939,
"cdna_start": 3772,
"cds_end": null,
"cds_length": 3780,
"cds_start": 3557,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000375960.6",
"gene_hgnc_id": 25817,
"gene_symbol": "TUT7",
"hgvs_c": "c.3557G>A",
"hgvs_p": "p.Arg1186Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000365127.2",
"strand": false,
"transcript": "ENST00000375960.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1541,
"aa_ref": "R",
"aa_start": 1422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5839,
"cdna_start": 4526,
"cds_end": null,
"cds_length": 4626,
"cds_start": 4265,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000896499.1",
"gene_hgnc_id": 25817,
"gene_symbol": "TUT7",
"hgvs_c": "c.4265G>A",
"hgvs_p": "p.Arg1422Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566558.1",
"strand": false,
"transcript": "ENST00000896499.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1536,
"aa_ref": "R",
"aa_start": 1422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5751,
"cdna_start": 4464,
"cds_end": null,
"cds_length": 4611,
"cds_start": 4265,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000896500.1",
"gene_hgnc_id": 25817,
"gene_symbol": "TUT7",
"hgvs_c": "c.4265G>A",
"hgvs_p": "p.Arg1422Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566559.1",
"strand": false,
"transcript": "ENST00000896500.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1495,
"aa_ref": "R",
"aa_start": 1422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5493,
"cdna_start": 4326,
"cds_end": null,
"cds_length": 4488,
"cds_start": 4265,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001185059.2",
"gene_hgnc_id": 25817,
"gene_symbol": "TUT7",
"hgvs_c": "c.4265G>A",
"hgvs_p": "p.Arg1422Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171988.1",
"strand": false,
"transcript": "NM_001185059.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1495,
"aa_ref": "R",
"aa_start": 1422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5624,
"cdna_start": 4457,
"cds_end": null,
"cds_length": 4488,
"cds_start": 4265,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000896498.1",
"gene_hgnc_id": 25817,
"gene_symbol": "TUT7",
"hgvs_c": "c.4265G>A",
"hgvs_p": "p.Arg1422Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566557.1",
"strand": false,
"transcript": "ENST00000896498.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1495,
"aa_ref": "R",
"aa_start": 1422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5852,
"cdna_start": 4687,
"cds_end": null,
"cds_length": 4488,
"cds_start": 4265,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000971594.1",
"gene_hgnc_id": 25817,
"gene_symbol": "TUT7",
"hgvs_c": "c.4265G>A",
"hgvs_p": "p.Arg1422Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641653.1",
"strand": false,
"transcript": "ENST00000971594.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1495,
"aa_ref": "R",
"aa_start": 1422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6169,
"cdna_start": 5006,
"cds_end": null,
"cds_length": 4488,
"cds_start": 4265,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000971595.1",
"gene_hgnc_id": 25817,
"gene_symbol": "TUT7",
"hgvs_c": "c.4265G>A",
"hgvs_p": "p.Arg1422Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641654.1",
"strand": false,
"transcript": "ENST00000971595.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1259,
"aa_ref": "R",
"aa_start": 1186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4895,
"cdna_start": 3728,
"cds_end": null,
"cds_length": 3780,
"cds_start": 3557,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001185074.2",
"gene_hgnc_id": 25817,
"gene_symbol": "TUT7",
"hgvs_c": "c.3557G>A",
"hgvs_p": "p.Arg1186Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001172003.1",
"strand": false,
"transcript": "NM_001185074.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 784,
"aa_ref": "R",
"aa_start": 711,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5766,
"cdna_start": 4599,
"cds_end": null,
"cds_length": 2355,
"cds_start": 2132,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_001330718.2",
"gene_hgnc_id": 25817,
"gene_symbol": "TUT7",
"hgvs_c": "c.2132G>A",
"hgvs_p": "p.Arg711Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317647.1",
"strand": false,
"transcript": "NM_001330718.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 784,
"aa_ref": "R",
"aa_start": 711,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5724,
"cdna_start": 4557,
"cds_end": null,
"cds_length": 2355,
"cds_start": 2132,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000277141.10",
"gene_hgnc_id": 25817,
"gene_symbol": "TUT7",
"hgvs_c": "c.2132G>A",
"hgvs_p": "p.Arg711Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000277141.6",
"strand": false,
"transcript": "ENST00000277141.10",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 395,
"aa_ref": "R",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2262,
"cdna_start": 1097,
"cds_end": null,
"cds_length": 1188,
"cds_start": 965,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000375957.5",
"gene_hgnc_id": 25817,
"gene_symbol": "TUT7",
"hgvs_c": "c.965G>A",
"hgvs_p": "p.Arg322Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000365124.1",
"strand": false,
"transcript": "ENST00000375957.5",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1551,
"aa_ref": "R",
"aa_start": 1422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8198,
"cdna_start": 4436,
"cds_end": null,
"cds_length": 4656,
"cds_start": 4265,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_011519011.3",
"gene_hgnc_id": 25817,
"gene_symbol": "TUT7",
"hgvs_c": "c.4265G>A",
"hgvs_p": "p.Arg1422Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517313.1",
"strand": false,
"transcript": "XM_011519011.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1551,
"aa_ref": "R",
"aa_start": 1422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8088,
"cdna_start": 4326,
"cds_end": null,
"cds_length": 4656,
"cds_start": 4265,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_011519012.3",
"gene_hgnc_id": 25817,
"gene_symbol": "TUT7",
"hgvs_c": "c.4265G>A",
"hgvs_p": "p.Arg1422Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517314.1",
"strand": false,
"transcript": "XM_011519012.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1551,
"aa_ref": "R",
"aa_start": 1422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8728,
"cdna_start": 4966,
"cds_end": null,
"cds_length": 4656,
"cds_start": 4265,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_011519013.3",
"gene_hgnc_id": 25817,
"gene_symbol": "TUT7",
"hgvs_c": "c.4265G>A",
"hgvs_p": "p.Arg1422Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517315.1",
"strand": false,
"transcript": "XM_011519013.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1551,
"aa_ref": "R",
"aa_start": 1422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8621,
"cdna_start": 4859,
"cds_end": null,
"cds_length": 4656,
"cds_start": 4265,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_011519014.3",
"gene_hgnc_id": 25817,
"gene_symbol": "TUT7",
"hgvs_c": "c.4265G>A",
"hgvs_p": "p.Arg1422Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517316.1",
"strand": false,
"transcript": "XM_011519014.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1541,
"aa_ref": "R",
"aa_start": 1422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5741,
"cdna_start": 4436,
"cds_end": null,
"cds_length": 4626,
"cds_start": 4265,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_006717283.2",
"gene_hgnc_id": 25817,
"gene_symbol": "TUT7",
"hgvs_c": "c.4265G>A",
"hgvs_p": "p.Arg1422Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006717346.1",
"strand": false,
"transcript": "XM_006717283.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1541,
"aa_ref": "R",
"aa_start": 1422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6271,
"cdna_start": 4966,
"cds_end": null,
"cds_length": 4626,
"cds_start": 4265,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_047423867.1",
"gene_hgnc_id": 25817,
"gene_symbol": "TUT7",
"hgvs_c": "c.4265G>A",
"hgvs_p": "p.Arg1422Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279823.1",
"strand": false,
"transcript": "XM_047423867.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1536,
"aa_ref": "R",
"aa_start": 1422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6642,
"cdna_start": 4436,
"cds_end": null,
"cds_length": 4611,
"cds_start": 4265,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_011519015.2",
"gene_hgnc_id": 25817,
"gene_symbol": "TUT7",
"hgvs_c": "c.4265G>A",
"hgvs_p": "p.Arg1422Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517317.1",
"strand": false,
"transcript": "XM_011519015.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1495,
"aa_ref": "R",
"aa_start": 1422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6133,
"cdna_start": 4966,
"cds_end": null,
"cds_length": 4488,
"cds_start": 4265,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_017015130.2",
"gene_hgnc_id": 25817,
"gene_symbol": "TUT7",
"hgvs_c": "c.4265G>A",
"hgvs_p": "p.Arg1422Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016870619.1",
"strand": false,
"transcript": "XM_017015130.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1495,
"aa_ref": "R",
"aa_start": 1422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6026,
"cdna_start": 4859,
"cds_end": null,
"cds_length": 4488,
"cds_start": 4265,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_017015131.2",
"gene_hgnc_id": 25817,
"gene_symbol": "TUT7",
"hgvs_c": "c.4265G>A",
"hgvs_p": "p.Arg1422Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016870620.1",
"strand": false,
"transcript": "XM_017015131.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1490,
"aa_ref": "R",
"aa_start": 1422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6504,
"cdna_start": 4436,
"cds_end": null,
"cds_length": 4473,
"cds_start": 4265,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_011519016.2",
"gene_hgnc_id": 25817,
"gene_symbol": "TUT7",
"hgvs_c": "c.4265G>A",
"hgvs_p": "p.Arg1422Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517318.1",
"strand": false,
"transcript": "XM_011519016.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1478,
"aa_ref": "R",
"aa_start": 1422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5667,
"cdna_start": 4436,
"cds_end": null,
"cds_length": 4437,
"cds_start": 4265,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_005252207.4",
"gene_hgnc_id": 25817,
"gene_symbol": "TUT7",
"hgvs_c": "c.4265G>A",
"hgvs_p": "p.Arg1422Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005252264.1",
"strand": false,
"transcript": "XM_005252207.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1478,
"aa_ref": "R",
"aa_start": 1422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8124,
"cdna_start": 4436,
"cds_end": null,
"cds_length": 4437,
"cds_start": 4265,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_047423868.1",
"gene_hgnc_id": 25817,
"gene_symbol": "TUT7",
"hgvs_c": "c.4265G>A",
"hgvs_p": "p.Arg1422Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279824.1",
"strand": false,
"transcript": "XM_047423868.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1478,
"aa_ref": "R",
"aa_start": 1422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6568,
"cdna_start": 4436,
"cds_end": null,
"cds_length": 4437,
"cds_start": 4265,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_047423869.1",
"gene_hgnc_id": 25817,
"gene_symbol": "TUT7",
"hgvs_c": "c.4265G>A",
"hgvs_p": "p.Arg1422Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279825.1",
"strand": false,
"transcript": "XM_047423869.1",
"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": 515,
"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": "ENST00000762831.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000299358",
"hgvs_c": "n.447+18829C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000762831.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1381,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4412,
"cdna_start": null,
"cds_end": null,
"cds_length": 4146,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005252208.3",
"gene_hgnc_id": 25817,
"gene_symbol": "TUT7",
"hgvs_c": "c.*208G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005252265.1",
"strand": true,
"transcript": "XM_005252208.3",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs201306794",
"effect": "missense_variant",
"frequency_reference_population": 0.00005700117,
"gene_hgnc_id": 25817,
"gene_symbol": "TUT7",
"gnomad_exomes_ac": 90,
"gnomad_exomes_af": 0.0000615652,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_ac": 2,
"gnomad_genomes_af": 0.0000131461,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 1,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.658,
"pos": 86301431,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.127,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_024617.4"
}
]
}