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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: 9-86301590-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=86301590&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 86301590,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024617.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUT7",
"gene_hgnc_id": 25817,
"hgvs_c": "c.4106G>A",
"hgvs_p": "p.Arg1369Gln",
"transcript": "NM_024617.4",
"protein_id": "NP_078893.2",
"transcript_support_level": null,
"aa_start": 1369,
"aa_end": null,
"aa_length": 1495,
"cds_start": 4106,
"cds_end": null,
"cds_length": 4488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000375963.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024617.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUT7",
"gene_hgnc_id": 25817,
"hgvs_c": "c.4106G>A",
"hgvs_p": "p.Arg1369Gln",
"transcript": "ENST00000375963.8",
"protein_id": "ENSP00000365130.3",
"transcript_support_level": 5,
"aa_start": 1369,
"aa_end": null,
"aa_length": 1495,
"cds_start": 4106,
"cds_end": null,
"cds_length": 4488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024617.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375963.8"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUT7",
"gene_hgnc_id": 25817,
"hgvs_c": "c.3398G>A",
"hgvs_p": "p.Arg1133Gln",
"transcript": "ENST00000375960.6",
"protein_id": "ENSP00000365127.2",
"transcript_support_level": 1,
"aa_start": 1133,
"aa_end": null,
"aa_length": 1259,
"cds_start": 3398,
"cds_end": null,
"cds_length": 3780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375960.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUT7",
"gene_hgnc_id": 25817,
"hgvs_c": "c.4106G>A",
"hgvs_p": "p.Arg1369Gln",
"transcript": "ENST00000896499.1",
"protein_id": "ENSP00000566558.1",
"transcript_support_level": null,
"aa_start": 1369,
"aa_end": null,
"aa_length": 1541,
"cds_start": 4106,
"cds_end": null,
"cds_length": 4626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896499.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUT7",
"gene_hgnc_id": 25817,
"hgvs_c": "c.4106G>A",
"hgvs_p": "p.Arg1369Gln",
"transcript": "ENST00000896500.1",
"protein_id": "ENSP00000566559.1",
"transcript_support_level": null,
"aa_start": 1369,
"aa_end": null,
"aa_length": 1536,
"cds_start": 4106,
"cds_end": null,
"cds_length": 4611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896500.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUT7",
"gene_hgnc_id": 25817,
"hgvs_c": "c.4106G>A",
"hgvs_p": "p.Arg1369Gln",
"transcript": "NM_001185059.2",
"protein_id": "NP_001171988.1",
"transcript_support_level": null,
"aa_start": 1369,
"aa_end": null,
"aa_length": 1495,
"cds_start": 4106,
"cds_end": null,
"cds_length": 4488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001185059.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUT7",
"gene_hgnc_id": 25817,
"hgvs_c": "c.4106G>A",
"hgvs_p": "p.Arg1369Gln",
"transcript": "ENST00000896498.1",
"protein_id": "ENSP00000566557.1",
"transcript_support_level": null,
"aa_start": 1369,
"aa_end": null,
"aa_length": 1495,
"cds_start": 4106,
"cds_end": null,
"cds_length": 4488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896498.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUT7",
"gene_hgnc_id": 25817,
"hgvs_c": "c.4106G>A",
"hgvs_p": "p.Arg1369Gln",
"transcript": "ENST00000971594.1",
"protein_id": "ENSP00000641653.1",
"transcript_support_level": null,
"aa_start": 1369,
"aa_end": null,
"aa_length": 1495,
"cds_start": 4106,
"cds_end": null,
"cds_length": 4488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971594.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUT7",
"gene_hgnc_id": 25817,
"hgvs_c": "c.4106G>A",
"hgvs_p": "p.Arg1369Gln",
"transcript": "ENST00000971595.1",
"protein_id": "ENSP00000641654.1",
"transcript_support_level": null,
"aa_start": 1369,
"aa_end": null,
"aa_length": 1495,
"cds_start": 4106,
"cds_end": null,
"cds_length": 4488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971595.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUT7",
"gene_hgnc_id": 25817,
"hgvs_c": "c.3398G>A",
"hgvs_p": "p.Arg1133Gln",
"transcript": "NM_001185074.2",
"protein_id": "NP_001172003.1",
"transcript_support_level": null,
"aa_start": 1133,
"aa_end": null,
"aa_length": 1259,
"cds_start": 3398,
"cds_end": null,
"cds_length": 3780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001185074.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUT7",
"gene_hgnc_id": 25817,
"hgvs_c": "c.1973G>A",
"hgvs_p": "p.Arg658Gln",
"transcript": "NM_001330718.2",
"protein_id": "NP_001317647.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 784,
"cds_start": 1973,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330718.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUT7",
"gene_hgnc_id": 25817,
"hgvs_c": "c.1973G>A",
"hgvs_p": "p.Arg658Gln",
"transcript": "ENST00000277141.10",
"protein_id": "ENSP00000277141.6",
"transcript_support_level": 2,
"aa_start": 658,
"aa_end": null,
"aa_length": 784,
"cds_start": 1973,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000277141.10"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUT7",
"gene_hgnc_id": 25817,
"hgvs_c": "c.806G>A",
"hgvs_p": "p.Arg269Gln",
"transcript": "ENST00000375957.5",
"protein_id": "ENSP00000365124.1",
"transcript_support_level": 2,
"aa_start": 269,
"aa_end": null,
"aa_length": 395,
"cds_start": 806,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375957.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUT7",
"gene_hgnc_id": 25817,
"hgvs_c": "c.4106G>A",
"hgvs_p": "p.Arg1369Gln",
"transcript": "XM_011519011.3",
"protein_id": "XP_011517313.1",
"transcript_support_level": null,
"aa_start": 1369,
"aa_end": null,
"aa_length": 1551,
"cds_start": 4106,
"cds_end": null,
"cds_length": 4656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519011.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUT7",
"gene_hgnc_id": 25817,
"hgvs_c": "c.4106G>A",
"hgvs_p": "p.Arg1369Gln",
"transcript": "XM_011519012.3",
"protein_id": "XP_011517314.1",
"transcript_support_level": null,
"aa_start": 1369,
"aa_end": null,
"aa_length": 1551,
"cds_start": 4106,
"cds_end": null,
"cds_length": 4656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519012.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUT7",
"gene_hgnc_id": 25817,
"hgvs_c": "c.4106G>A",
"hgvs_p": "p.Arg1369Gln",
"transcript": "XM_011519013.3",
"protein_id": "XP_011517315.1",
"transcript_support_level": null,
"aa_start": 1369,
"aa_end": null,
"aa_length": 1551,
"cds_start": 4106,
"cds_end": null,
"cds_length": 4656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519013.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUT7",
"gene_hgnc_id": 25817,
"hgvs_c": "c.4106G>A",
"hgvs_p": "p.Arg1369Gln",
"transcript": "XM_011519014.3",
"protein_id": "XP_011517316.1",
"transcript_support_level": null,
"aa_start": 1369,
"aa_end": null,
"aa_length": 1551,
"cds_start": 4106,
"cds_end": null,
"cds_length": 4656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519014.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUT7",
"gene_hgnc_id": 25817,
"hgvs_c": "c.4106G>A",
"hgvs_p": "p.Arg1369Gln",
"transcript": "XM_006717283.2",
"protein_id": "XP_006717346.1",
"transcript_support_level": null,
"aa_start": 1369,
"aa_end": null,
"aa_length": 1541,
"cds_start": 4106,
"cds_end": null,
"cds_length": 4626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006717283.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUT7",
"gene_hgnc_id": 25817,
"hgvs_c": "c.4106G>A",
"hgvs_p": "p.Arg1369Gln",
"transcript": "XM_047423867.1",
"protein_id": "XP_047279823.1",
"transcript_support_level": null,
"aa_start": 1369,
"aa_end": null,
"aa_length": 1541,
"cds_start": 4106,
"cds_end": null,
"cds_length": 4626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423867.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUT7",
"gene_hgnc_id": 25817,
"hgvs_c": "c.4106G>A",
"hgvs_p": "p.Arg1369Gln",
"transcript": "XM_011519015.2",
"protein_id": "XP_011517317.1",
"transcript_support_level": null,
"aa_start": 1369,
"aa_end": null,
"aa_length": 1536,
"cds_start": 4106,
"cds_end": null,
"cds_length": 4611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519015.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUT7",
"gene_hgnc_id": 25817,
"hgvs_c": "c.4106G>A",
"hgvs_p": "p.Arg1369Gln",
"transcript": "XM_017015130.2",
"protein_id": "XP_016870619.1",
"transcript_support_level": null,
"aa_start": 1369,
"aa_end": null,
"aa_length": 1495,
"cds_start": 4106,
"cds_end": null,
"cds_length": 4488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015130.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUT7",
"gene_hgnc_id": 25817,
"hgvs_c": "c.4106G>A",
"hgvs_p": "p.Arg1369Gln",
"transcript": "XM_017015131.2",
"protein_id": "XP_016870620.1",
"transcript_support_level": null,
"aa_start": 1369,
"aa_end": null,
"aa_length": 1495,
"cds_start": 4106,
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{
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{
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"transcript": "XM_005252207.4",
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{
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{
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{
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"transcript": "XM_005252208.3",
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"feature": "XM_005252208.3"
},
{
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],
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"biotype": "pseudogene",
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],
"gene_symbol": "TUT7",
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"dbsnp": "rs570757211",
"frequency_reference_population": 0.000029139192,
"hom_count_reference_population": 1,
"allele_count_reference_population": 47,
"gnomad_exomes_af": 0.0000294309,
"gnomad_genomes_af": 0.0000263335,
"gnomad_exomes_ac": 43,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18103650212287903,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.099,
"revel_prediction": "Benign",
"alphamissense_score": 0.1396,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.488,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_024617.4",
"gene_symbol": "TUT7",
"hgnc_id": 25817,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.4106G>A",
"hgvs_p": "p.Arg1369Gln"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000762831.1",
"gene_symbol": "ENSG00000299358",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.447+18988C>T",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}