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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: 5-72883177-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=72883177&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TNPO1",
"hgnc_id": 6401,
"hgvs_c": "c.1095A>T",
"hgvs_p": "p.Glu365Asp",
"inheritance_mode": "Unknown",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_002270.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.0566,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.03349927067756653,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 898,
"aa_ref": "E",
"aa_start": 365,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8489,
"cdna_start": 1172,
"cds_end": null,
"cds_length": 2697,
"cds_start": 1095,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_002270.4",
"gene_hgnc_id": 6401,
"gene_symbol": "TNPO1",
"hgvs_c": "c.1095A>T",
"hgvs_p": "p.Glu365Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000337273.10",
"protein_coding": true,
"protein_id": "NP_002261.3",
"strand": true,
"transcript": "NM_002270.4",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 898,
"aa_ref": "E",
"aa_start": 365,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8489,
"cdna_start": 1172,
"cds_end": null,
"cds_length": 2697,
"cds_start": 1095,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000337273.10",
"gene_hgnc_id": 6401,
"gene_symbol": "TNPO1",
"hgvs_c": "c.1095A>T",
"hgvs_p": "p.Glu365Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002270.4",
"protein_coding": true,
"protein_id": "ENSP00000336712.5",
"strand": true,
"transcript": "ENST00000337273.10",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 890,
"aa_ref": "E",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3028,
"cdna_start": 1148,
"cds_end": null,
"cds_length": 2673,
"cds_start": 1071,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000506351.6",
"gene_hgnc_id": 6401,
"gene_symbol": "TNPO1",
"hgvs_c": "c.1071A>T",
"hgvs_p": "p.Glu357Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000425118.2",
"strand": true,
"transcript": "ENST00000506351.6",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 920,
"aa_ref": "E",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3068,
"cdna_start": 1200,
"cds_end": null,
"cds_length": 2763,
"cds_start": 1161,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000944758.1",
"gene_hgnc_id": 6401,
"gene_symbol": "TNPO1",
"hgvs_c": "c.1161A>T",
"hgvs_p": "p.Glu387Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614817.1",
"strand": true,
"transcript": "ENST00000944758.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 898,
"aa_ref": "E",
"aa_start": 365,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3396,
"cdna_start": 1172,
"cds_end": null,
"cds_length": 2697,
"cds_start": 1095,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000895477.1",
"gene_hgnc_id": 6401,
"gene_symbol": "TNPO1",
"hgvs_c": "c.1095A>T",
"hgvs_p": "p.Glu365Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565536.1",
"strand": true,
"transcript": "ENST00000895477.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 896,
"aa_ref": "E",
"aa_start": 365,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3054,
"cdna_start": 1172,
"cds_end": null,
"cds_length": 2691,
"cds_start": 1095,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000895479.1",
"gene_hgnc_id": 6401,
"gene_symbol": "TNPO1",
"hgvs_c": "c.1095A>T",
"hgvs_p": "p.Glu365Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565538.1",
"strand": true,
"transcript": "ENST00000895479.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 890,
"aa_ref": "E",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8691,
"cdna_start": 1374,
"cds_end": null,
"cds_length": 2673,
"cds_start": 1071,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001364292.3",
"gene_hgnc_id": 6401,
"gene_symbol": "TNPO1",
"hgvs_c": "c.1071A>T",
"hgvs_p": "p.Glu357Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001351221.1",
"strand": true,
"transcript": "NM_001364292.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 890,
"aa_ref": "E",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8506,
"cdna_start": 1189,
"cds_end": null,
"cds_length": 2673,
"cds_start": 1071,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001364293.3",
"gene_hgnc_id": 6401,
"gene_symbol": "TNPO1",
"hgvs_c": "c.1071A>T",
"hgvs_p": "p.Glu357Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001351222.1",
"strand": true,
"transcript": "NM_001364293.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 890,
"aa_ref": "E",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8510,
"cdna_start": 1193,
"cds_end": null,
"cds_length": 2673,
"cds_start": 1071,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_153188.4",
"gene_hgnc_id": 6401,
"gene_symbol": "TNPO1",
"hgvs_c": "c.1071A>T",
"hgvs_p": "p.Glu357Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_694858.1",
"strand": true,
"transcript": "NM_153188.4",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 870,
"aa_ref": "E",
"aa_start": 365,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11040,
"cdna_start": 1521,
"cds_end": null,
"cds_length": 2613,
"cds_start": 1095,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000680533.1",
"gene_hgnc_id": 6401,
"gene_symbol": "TNPO1",
"hgvs_c": "c.1095A>T",
"hgvs_p": "p.Glu365Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505688.1",
"strand": true,
"transcript": "ENST00000680533.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 865,
"aa_ref": "E",
"aa_start": 365,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2961,
"cdna_start": 1172,
"cds_end": null,
"cds_length": 2598,
"cds_start": 1095,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000895480.1",
"gene_hgnc_id": 6401,
"gene_symbol": "TNPO1",
"hgvs_c": "c.1095A>T",
"hgvs_p": "p.Glu365Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565539.1",
"strand": true,
"transcript": "ENST00000895480.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 858,
"aa_ref": "E",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8414,
"cdna_start": 1193,
"cds_end": null,
"cds_length": 2577,
"cds_start": 1071,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001364294.3",
"gene_hgnc_id": 6401,
"gene_symbol": "TNPO1",
"hgvs_c": "c.1071A>T",
"hgvs_p": "p.Glu357Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001351223.1",
"strand": true,
"transcript": "NM_001364294.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 858,
"aa_ref": "E",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8412,
"cdna_start": 1211,
"cds_end": null,
"cds_length": 2577,
"cds_start": 1071,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000679378.1",
"gene_hgnc_id": 6401,
"gene_symbol": "TNPO1",
"hgvs_c": "c.1071A>T",
"hgvs_p": "p.Glu357Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506620.1",
"strand": true,
"transcript": "ENST00000679378.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 848,
"aa_ref": "E",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8339,
"cdna_start": 1022,
"cds_end": null,
"cds_length": 2547,
"cds_start": 945,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001364295.3",
"gene_hgnc_id": 6401,
"gene_symbol": "TNPO1",
"hgvs_c": "c.945A>T",
"hgvs_p": "p.Glu315Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001351224.1",
"strand": true,
"transcript": "NM_001364295.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 848,
"aa_ref": "E",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2632,
"cdna_start": 1011,
"cds_end": null,
"cds_length": 2547,
"cds_start": 945,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000523768.5",
"gene_hgnc_id": 6401,
"gene_symbol": "TNPO1",
"hgvs_c": "c.945A>T",
"hgvs_p": "p.Glu315Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000428899.1",
"strand": true,
"transcript": "ENST00000523768.5",
"transcript_support_level": 2
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 847,
"aa_ref": "E",
"aa_start": 365,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2871,
"cdna_start": 1149,
"cds_end": null,
"cds_length": 2544,
"cds_start": 1095,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000895481.1",
"gene_hgnc_id": 6401,
"gene_symbol": "TNPO1",
"hgvs_c": "c.1095A>T",
"hgvs_p": "p.Glu365Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565540.1",
"strand": true,
"transcript": "ENST00000895481.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 815,
"aa_ref": "E",
"aa_start": 365,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2811,
"cdna_start": 1172,
"cds_end": null,
"cds_length": 2448,
"cds_start": 1095,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000895478.1",
"gene_hgnc_id": 6401,
"gene_symbol": "TNPO1",
"hgvs_c": "c.1095A>T",
"hgvs_p": "p.Glu365Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565537.1",
"strand": true,
"transcript": "ENST00000895478.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 898,
"aa_ref": "E",
"aa_start": 365,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2944,
"cdna_start": 1172,
"cds_end": null,
"cds_length": 2697,
"cds_start": 1095,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047417167.1",
"gene_hgnc_id": 6401,
"gene_symbol": "TNPO1",
"hgvs_c": "c.1095A>T",
"hgvs_p": "p.Glu365Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047273123.1",
"strand": true,
"transcript": "XM_047417167.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 866,
"aa_ref": "E",
"aa_start": 365,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8393,
"cdna_start": 1172,
"cds_end": null,
"cds_length": 2601,
"cds_start": 1095,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_005248501.3",
"gene_hgnc_id": 6401,
"gene_symbol": "TNPO1",
"hgvs_c": "c.1095A>T",
"hgvs_p": "p.Glu365Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005248558.1",
"strand": true,
"transcript": "XM_005248501.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 858,
"aa_ref": "E",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8410,
"cdna_start": 1189,
"cds_end": null,
"cds_length": 2577,
"cds_start": 1071,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047417168.1",
"gene_hgnc_id": 6401,
"gene_symbol": "TNPO1",
"hgvs_c": "c.1071A>T",
"hgvs_p": "p.Glu357Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047273124.1",
"strand": true,
"transcript": "XM_047417168.1",
"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": 543,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000505082.1",
"gene_hgnc_id": 6401,
"gene_symbol": "TNPO1",
"hgvs_c": "n.347A>T",
"hgvs_p": null,
"intron_rank": null,
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