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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: 5-72865665-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=72865665&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 72865665,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002270.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO1",
"gene_hgnc_id": 6401,
"hgvs_c": "c.532C>A",
"hgvs_p": "p.Arg178Ser",
"transcript": "NM_002270.4",
"protein_id": "NP_002261.3",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 898,
"cds_start": 532,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000337273.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002270.4"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO1",
"gene_hgnc_id": 6401,
"hgvs_c": "c.532C>A",
"hgvs_p": "p.Arg178Ser",
"transcript": "ENST00000337273.10",
"protein_id": "ENSP00000336712.5",
"transcript_support_level": 1,
"aa_start": 178,
"aa_end": null,
"aa_length": 898,
"cds_start": 532,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002270.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337273.10"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO1",
"gene_hgnc_id": 6401,
"hgvs_c": "c.508C>A",
"hgvs_p": "p.Arg170Ser",
"transcript": "ENST00000506351.6",
"protein_id": "ENSP00000425118.2",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 890,
"cds_start": 508,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506351.6"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO1",
"gene_hgnc_id": 6401,
"hgvs_c": "c.598C>A",
"hgvs_p": "p.Arg200Ser",
"transcript": "ENST00000944758.1",
"protein_id": "ENSP00000614817.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 920,
"cds_start": 598,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944758.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO1",
"gene_hgnc_id": 6401,
"hgvs_c": "c.532C>A",
"hgvs_p": "p.Arg178Ser",
"transcript": "ENST00000895477.1",
"protein_id": "ENSP00000565536.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 898,
"cds_start": 532,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895477.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO1",
"gene_hgnc_id": 6401,
"hgvs_c": "c.532C>A",
"hgvs_p": "p.Arg178Ser",
"transcript": "ENST00000895479.1",
"protein_id": "ENSP00000565538.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 896,
"cds_start": 532,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895479.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO1",
"gene_hgnc_id": 6401,
"hgvs_c": "c.508C>A",
"hgvs_p": "p.Arg170Ser",
"transcript": "NM_001364292.3",
"protein_id": "NP_001351221.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 890,
"cds_start": 508,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364292.3"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO1",
"gene_hgnc_id": 6401,
"hgvs_c": "c.508C>A",
"hgvs_p": "p.Arg170Ser",
"transcript": "NM_001364293.3",
"protein_id": "NP_001351222.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 890,
"cds_start": 508,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364293.3"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO1",
"gene_hgnc_id": 6401,
"hgvs_c": "c.508C>A",
"hgvs_p": "p.Arg170Ser",
"transcript": "NM_153188.4",
"protein_id": "NP_694858.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 890,
"cds_start": 508,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153188.4"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO1",
"gene_hgnc_id": 6401,
"hgvs_c": "c.532C>A",
"hgvs_p": "p.Arg178Ser",
"transcript": "ENST00000680533.1",
"protein_id": "ENSP00000505688.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 870,
"cds_start": 532,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680533.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO1",
"gene_hgnc_id": 6401,
"hgvs_c": "c.532C>A",
"hgvs_p": "p.Arg178Ser",
"transcript": "ENST00000895480.1",
"protein_id": "ENSP00000565539.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 865,
"cds_start": 532,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895480.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO1",
"gene_hgnc_id": 6401,
"hgvs_c": "c.508C>A",
"hgvs_p": "p.Arg170Ser",
"transcript": "NM_001364294.3",
"protein_id": "NP_001351223.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 858,
"cds_start": 508,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364294.3"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO1",
"gene_hgnc_id": 6401,
"hgvs_c": "c.508C>A",
"hgvs_p": "p.Arg170Ser",
"transcript": "ENST00000679378.1",
"protein_id": "ENSP00000506620.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 858,
"cds_start": 508,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679378.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO1",
"gene_hgnc_id": 6401,
"hgvs_c": "c.382C>A",
"hgvs_p": "p.Arg128Ser",
"transcript": "NM_001364295.3",
"protein_id": "NP_001351224.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 848,
"cds_start": 382,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364295.3"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO1",
"gene_hgnc_id": 6401,
"hgvs_c": "c.382C>A",
"hgvs_p": "p.Arg128Ser",
"transcript": "ENST00000523768.5",
"protein_id": "ENSP00000428899.1",
"transcript_support_level": 2,
"aa_start": 128,
"aa_end": null,
"aa_length": 848,
"cds_start": 382,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523768.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO1",
"gene_hgnc_id": 6401,
"hgvs_c": "c.532C>A",
"hgvs_p": "p.Arg178Ser",
"transcript": "ENST00000895481.1",
"protein_id": "ENSP00000565540.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 847,
"cds_start": 532,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895481.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO1",
"gene_hgnc_id": 6401,
"hgvs_c": "c.532C>A",
"hgvs_p": "p.Arg178Ser",
"transcript": "ENST00000895478.1",
"protein_id": "ENSP00000565537.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 815,
"cds_start": 532,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895478.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"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": "TNPO1",
"gene_hgnc_id": 6401,
"hgvs_c": "c.508C>A",
"hgvs_p": "p.Arg170Ser",
"transcript": "NM_001364296.2",
"protein_id": "NP_001351225.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 197,
"cds_start": 508,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364296.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO1",
"gene_hgnc_id": 6401,
"hgvs_c": "c.532C>A",
"hgvs_p": "p.Arg178Ser",
"transcript": "XM_047417167.1",
"protein_id": "XP_047273123.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 898,
"cds_start": 532,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417167.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO1",
"gene_hgnc_id": 6401,
"hgvs_c": "c.532C>A",
"hgvs_p": "p.Arg178Ser",
"transcript": "XM_005248501.3",
"protein_id": "XP_005248558.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 866,
"cds_start": 532,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248501.3"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO1",
"gene_hgnc_id": 6401,
"hgvs_c": "c.508C>A",
"hgvs_p": "p.Arg170Ser",
"transcript": "XM_047417168.1",
"protein_id": "XP_047273124.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 858,
"cds_start": 508,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417168.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO1",
"gene_hgnc_id": 6401,
"hgvs_c": "n.367C>A",
"hgvs_p": null,
"transcript": "ENST00000511754.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000511754.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
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{
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{
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{
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{
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],
"gene_symbol": "TNPO1",
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"dbsnp": "rs753376038",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84451e-7,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.36202991008758545,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.354,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9403,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.19,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.886,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002270.4",
"gene_symbol": "TNPO1",
"hgnc_id": 6401,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.532C>A",
"hgvs_p": "p.Arg178Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}