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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: 7-2250981-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=2250981&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 2250981,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_198949.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT1",
"gene_hgnc_id": 8048,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Arg151Cys",
"transcript": "NM_002452.4",
"protein_id": "NP_002443.3",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 156,
"cds_start": 451,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356714.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002452.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT1",
"gene_hgnc_id": 8048,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Arg151Cys",
"transcript": "ENST00000356714.6",
"protein_id": "ENSP00000349148.1",
"transcript_support_level": 1,
"aa_start": 151,
"aa_end": null,
"aa_length": 156,
"cds_start": 451,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002452.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356714.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT1",
"gene_hgnc_id": 8048,
"hgvs_c": "c.520C>T",
"hgvs_p": "p.Arg174Cys",
"transcript": "ENST00000343985.8",
"protein_id": "ENSP00000339503.4",
"transcript_support_level": 1,
"aa_start": 174,
"aa_end": null,
"aa_length": 179,
"cds_start": 520,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343985.8"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT1",
"gene_hgnc_id": 8048,
"hgvs_c": "c.520C>T",
"hgvs_p": "p.Arg174Cys",
"transcript": "ENST00000397048.5",
"protein_id": "ENSP00000380241.1",
"transcript_support_level": 1,
"aa_start": 174,
"aa_end": null,
"aa_length": 179,
"cds_start": 520,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397048.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT1",
"gene_hgnc_id": 8048,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Arg151Cys",
"transcript": "ENST00000339737.6",
"protein_id": "ENSP00000343439.2",
"transcript_support_level": 1,
"aa_start": 151,
"aa_end": null,
"aa_length": 156,
"cds_start": 451,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339737.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT1",
"gene_hgnc_id": 8048,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Arg151Cys",
"transcript": "ENST00000397046.5",
"protein_id": "ENSP00000380239.1",
"transcript_support_level": 1,
"aa_start": 151,
"aa_end": null,
"aa_length": 156,
"cds_start": 451,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397046.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT1",
"gene_hgnc_id": 8048,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Arg151Cys",
"transcript": "ENST00000397049.2",
"protein_id": "ENSP00000380242.2",
"transcript_support_level": 1,
"aa_start": 151,
"aa_end": null,
"aa_length": 156,
"cds_start": 451,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397049.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT1",
"gene_hgnc_id": 8048,
"hgvs_c": "c.520C>T",
"hgvs_p": "p.Arg174Cys",
"transcript": "NM_198949.2",
"protein_id": "NP_945187.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 179,
"cds_start": 520,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198949.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT1",
"gene_hgnc_id": 8048,
"hgvs_c": "c.520C>T",
"hgvs_p": "p.Arg174Cys",
"transcript": "NM_198952.2",
"protein_id": "NP_945190.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 179,
"cds_start": 520,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198952.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT1",
"gene_hgnc_id": 8048,
"hgvs_c": "c.520C>T",
"hgvs_p": "p.Arg174Cys",
"transcript": "NM_198954.1",
"protein_id": "NP_945192.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 179,
"cds_start": 520,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198954.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT1",
"gene_hgnc_id": 8048,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Arg151Cys",
"transcript": "NM_001367553.1",
"protein_id": "NP_001354482.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 156,
"cds_start": 451,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367553.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT1",
"gene_hgnc_id": 8048,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Arg151Cys",
"transcript": "NM_198948.2",
"protein_id": "NP_945186.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 156,
"cds_start": 451,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198948.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT1",
"gene_hgnc_id": 8048,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Arg151Cys",
"transcript": "NM_198950.2",
"protein_id": "NP_945188.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 156,
"cds_start": 451,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198950.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT1",
"gene_hgnc_id": 8048,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Arg151Cys",
"transcript": "NM_198953.1",
"protein_id": "NP_945191.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 156,
"cds_start": 451,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198953.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT1",
"gene_hgnc_id": 8048,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Arg151Cys",
"transcript": "ENST00000862416.1",
"protein_id": "ENSP00000532475.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 156,
"cds_start": 451,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862416.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT1",
"gene_hgnc_id": 8048,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Arg151Cys",
"transcript": "ENST00000862417.1",
"protein_id": "ENSP00000532476.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 156,
"cds_start": 451,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862417.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT1",
"gene_hgnc_id": 8048,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Arg151Cys",
"transcript": "ENST00000925089.1",
"protein_id": "ENSP00000595148.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 156,
"cds_start": 451,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925089.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT1",
"gene_hgnc_id": 8048,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Arg151Cys",
"transcript": "ENST00000925090.1",
"protein_id": "ENSP00000595149.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 156,
"cds_start": 451,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925090.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT1",
"gene_hgnc_id": 8048,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Arg151Cys",
"transcript": "ENST00000925091.1",
"protein_id": "ENSP00000595150.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 156,
"cds_start": 451,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925091.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT1",
"gene_hgnc_id": 8048,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Arg151Cys",
"transcript": "ENST00000925092.1",
"protein_id": "ENSP00000595151.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 156,
"cds_start": 451,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925092.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT1",
"gene_hgnc_id": 8048,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Arg151Cys",
"transcript": "ENST00000925093.1",
"protein_id": "ENSP00000595152.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 156,
"cds_start": 451,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925093.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT1",
"gene_hgnc_id": 8048,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Arg151Cys",
"transcript": "ENST00000925094.1",
"protein_id": "ENSP00000595153.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 156,
"cds_start": 451,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925094.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT1",
"gene_hgnc_id": 8048,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Arg151Cys",
"transcript": "ENST00000925095.1",
"protein_id": "ENSP00000595154.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 156,
"cds_start": 451,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925095.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT1",
"gene_hgnc_id": 8048,
"hgvs_c": "c.*191C>T",
"hgvs_p": null,
"transcript": "NM_001367554.1",
"protein_id": "NP_001354483.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 117,
"cds_start": null,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367554.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT1",
"gene_hgnc_id": 8048,
"hgvs_c": "c.*191C>T",
"hgvs_p": null,
"transcript": "NM_001367555.1",
"protein_id": "NP_001354484.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 117,
"cds_start": null,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367555.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT1",
"gene_hgnc_id": 8048,
"hgvs_c": "n.707C>T",
"hgvs_p": null,
"transcript": "ENST00000487426.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000487426.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT1",
"gene_hgnc_id": 8048,
"hgvs_c": "n.681C>T",
"hgvs_p": null,
"transcript": "NR_160264.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_160264.1"
}
],
"gene_symbol": "NUDT1",
"gene_hgnc_id": 8048,
"dbsnp": "rs754921444",
"frequency_reference_population": 0.00021251997,
"hom_count_reference_population": 0,
"allele_count_reference_population": 343,
"gnomad_exomes_af": 0.000232604,
"gnomad_genomes_af": 0.0000197039,
"gnomad_exomes_ac": 340,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07282555103302002,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.027,
"revel_prediction": "Benign",
"alphamissense_score": 0.1094,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.497,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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_198949.2",
"gene_symbol": "NUDT1",
"hgnc_id": 8048,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.520C>T",
"hgvs_p": "p.Arg174Cys"
}
],
"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
}