← 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: 15-64816305-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=64816305&ref=A&alt=C&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": "PIF1",
"hgnc_id": 26220,
"hgvs_c": "c.1919T>G",
"hgvs_p": "p.Ile640Ser",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_025049.4",
"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": 0.0588,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.47,
"chr": "15",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.05075827240943909,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 641,
"aa_ref": "I",
"aa_start": 640,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2690,
"cdna_start": 2017,
"cds_end": null,
"cds_length": 1926,
"cds_start": 1919,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001286496.2",
"gene_hgnc_id": 26220,
"gene_symbol": "PIF1",
"hgvs_c": "c.1919T>G",
"hgvs_p": "p.Ile640Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000559239.2",
"protein_coding": true,
"protein_id": "NP_001273425.1",
"strand": false,
"transcript": "NM_001286496.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 641,
"aa_ref": "I",
"aa_start": 640,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2690,
"cdna_start": 2017,
"cds_end": null,
"cds_length": 1926,
"cds_start": 1919,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000559239.2",
"gene_hgnc_id": 26220,
"gene_symbol": "PIF1",
"hgvs_c": "c.1919T>G",
"hgvs_p": "p.Ile640Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001286496.2",
"protein_coding": true,
"protein_id": "ENSP00000452792.1",
"strand": false,
"transcript": "ENST00000559239.2",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 641,
"aa_ref": "I",
"aa_start": 640,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2687,
"cdna_start": 2014,
"cds_end": null,
"cds_length": 1926,
"cds_start": 1919,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000268043.8",
"gene_hgnc_id": 26220,
"gene_symbol": "PIF1",
"hgvs_c": "c.1919T>G",
"hgvs_p": "p.Ile640Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000268043.4",
"strand": false,
"transcript": "ENST00000268043.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 707,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2278,
"cdna_start": null,
"cds_end": null,
"cds_length": 2124,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000333425.10",
"gene_hgnc_id": 26220,
"gene_symbol": "PIF1",
"hgvs_c": "c.1866+269T>G",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000328174.6",
"strand": false,
"transcript": "ENST00000333425.10",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 645,
"aa_ref": "I",
"aa_start": 644,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2668,
"cdna_start": 1995,
"cds_end": null,
"cds_length": 1938,
"cds_start": 1931,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000923751.1",
"gene_hgnc_id": 26220,
"gene_symbol": "PIF1",
"hgvs_c": "c.1931T>G",
"hgvs_p": "p.Ile644Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593810.1",
"strand": false,
"transcript": "ENST00000923751.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 641,
"aa_ref": "I",
"aa_start": 640,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2666,
"cdna_start": 1993,
"cds_end": null,
"cds_length": 1926,
"cds_start": 1919,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_025049.4",
"gene_hgnc_id": 26220,
"gene_symbol": "PIF1",
"hgvs_c": "c.1919T>G",
"hgvs_p": "p.Ile640Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_079325.2",
"strand": false,
"transcript": "NM_025049.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 641,
"aa_ref": "I",
"aa_start": 640,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2631,
"cdna_start": 1958,
"cds_end": null,
"cds_length": 1926,
"cds_start": 1919,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000880618.1",
"gene_hgnc_id": 26220,
"gene_symbol": "PIF1",
"hgvs_c": "c.1919T>G",
"hgvs_p": "p.Ile640Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550677.1",
"strand": false,
"transcript": "ENST00000880618.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 641,
"aa_ref": "I",
"aa_start": 640,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2708,
"cdna_start": 2035,
"cds_end": null,
"cds_length": 1926,
"cds_start": 1919,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000923753.1",
"gene_hgnc_id": 26220,
"gene_symbol": "PIF1",
"hgvs_c": "c.1919T>G",
"hgvs_p": "p.Ile640Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593812.1",
"strand": false,
"transcript": "ENST00000923753.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 641,
"aa_ref": "I",
"aa_start": 640,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2943,
"cdna_start": 2270,
"cds_end": null,
"cds_length": 1926,
"cds_start": 1919,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000923755.1",
"gene_hgnc_id": 26220,
"gene_symbol": "PIF1",
"hgvs_c": "c.1919T>G",
"hgvs_p": "p.Ile640Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593814.1",
"strand": false,
"transcript": "ENST00000923755.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 639,
"aa_ref": "I",
"aa_start": 638,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2689,
"cdna_start": 2016,
"cds_end": null,
"cds_length": 1920,
"cds_start": 1913,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000923743.1",
"gene_hgnc_id": 26220,
"gene_symbol": "PIF1",
"hgvs_c": "c.1913T>G",
"hgvs_p": "p.Ile638Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593802.1",
"strand": false,
"transcript": "ENST00000923743.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 639,
"aa_ref": "I",
"aa_start": 638,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2660,
"cdna_start": 1987,
"cds_end": null,
"cds_length": 1920,
"cds_start": 1913,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000923757.1",
"gene_hgnc_id": 26220,
"gene_symbol": "PIF1",
"hgvs_c": "c.1913T>G",
"hgvs_p": "p.Ile638Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593816.1",
"strand": false,
"transcript": "ENST00000923757.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 637,
"aa_ref": "I",
"aa_start": 636,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2684,
"cdna_start": 2011,
"cds_end": null,
"cds_length": 1914,
"cds_start": 1907,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000923742.1",
"gene_hgnc_id": 26220,
"gene_symbol": "PIF1",
"hgvs_c": "c.1907T>G",
"hgvs_p": "p.Ile636Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593801.1",
"strand": false,
"transcript": "ENST00000923742.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 637,
"aa_ref": "I",
"aa_start": 636,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2678,
"cdna_start": 2005,
"cds_end": null,
"cds_length": 1914,
"cds_start": 1907,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000923746.1",
"gene_hgnc_id": 26220,
"gene_symbol": "PIF1",
"hgvs_c": "c.1907T>G",
"hgvs_p": "p.Ile636Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593805.1",
"strand": false,
"transcript": "ENST00000923746.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 632,
"aa_ref": "I",
"aa_start": 631,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2639,
"cdna_start": 1966,
"cds_end": null,
"cds_length": 1899,
"cds_start": 1892,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000923747.1",
"gene_hgnc_id": 26220,
"gene_symbol": "PIF1",
"hgvs_c": "c.1892T>G",
"hgvs_p": "p.Ile631Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593806.1",
"strand": false,
"transcript": "ENST00000923747.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 632,
"aa_ref": "I",
"aa_start": 631,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2850,
"cdna_start": 2177,
"cds_end": null,
"cds_length": 1899,
"cds_start": 1892,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000923750.1",
"gene_hgnc_id": 26220,
"gene_symbol": "PIF1",
"hgvs_c": "c.1892T>G",
"hgvs_p": "p.Ile631Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593809.1",
"strand": false,
"transcript": "ENST00000923750.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 623,
"aa_ref": "I",
"aa_start": 622,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2612,
"cdna_start": 1939,
"cds_end": null,
"cds_length": 1872,
"cds_start": 1865,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000923748.1",
"gene_hgnc_id": 26220,
"gene_symbol": "PIF1",
"hgvs_c": "c.1865T>G",
"hgvs_p": "p.Ile622Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593807.1",
"strand": false,
"transcript": "ENST00000923748.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 623,
"aa_ref": "I",
"aa_start": 622,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2603,
"cdna_start": 1930,
"cds_end": null,
"cds_length": 1872,
"cds_start": 1865,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000923760.1",
"gene_hgnc_id": 26220,
"gene_symbol": "PIF1",
"hgvs_c": "c.1865T>G",
"hgvs_p": "p.Ile622Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593819.1",
"strand": false,
"transcript": "ENST00000923760.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 603,
"aa_ref": "I",
"aa_start": 602,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2550,
"cdna_start": 1879,
"cds_end": null,
"cds_length": 1812,
"cds_start": 1805,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000923749.1",
"gene_hgnc_id": 26220,
"gene_symbol": "PIF1",
"hgvs_c": "c.1805T>G",
"hgvs_p": "p.Ile602Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593808.1",
"strand": false,
"transcript": "ENST00000923749.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 600,
"aa_ref": "I",
"aa_start": 599,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2546,
"cdna_start": 1870,
"cds_end": null,
"cds_length": 1803,
"cds_start": 1796,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000923745.1",
"gene_hgnc_id": 26220,
"gene_symbol": "PIF1",
"hgvs_c": "c.1796T>G",
"hgvs_p": "p.Ile599Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593804.1",
"strand": false,
"transcript": "ENST00000923745.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 599,
"aa_ref": "I",
"aa_start": 598,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2527,
"cdna_start": 1854,
"cds_end": null,
"cds_length": 1800,
"cds_start": 1793,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000923752.1",
"gene_hgnc_id": 26220,
"gene_symbol": "PIF1",
"hgvs_c": "c.1793T>G",
"hgvs_p": "p.Ile598Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593811.1",
"strand": false,
"transcript": "ENST00000923752.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 588,
"aa_ref": "I",
"aa_start": 587,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2690,
"cdna_start": 2017,
"cds_end": null,
"cds_length": 1767,
"cds_start": 1760,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001286499.2",
"gene_hgnc_id": 26220,
"gene_symbol": "PIF1",
"hgvs_c": "c.1760T>G",
"hgvs_p": "p.Ile587Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273428.1",
"strand": false,
"transcript": "NM_001286499.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 581,
"aa_ref": "I",
"aa_start": 580,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2424,
"cdna_start": 1758,
"cds_end": null,
"cds_length": 1746,
"cds_start": 1739,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000923761.1",
"gene_hgnc_id": 26220,
"gene_symbol": "PIF1",
"hgvs_c": "c.1739T>G",
"hgvs_p": "p.Ile580Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593820.1",
"strand": false,
"transcript": "ENST00000923761.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 576,
"aa_ref": "I",
"aa_start": 575,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2449,
"cdna_start": 1776,
"cds_end": null,
"cds_length": 1731,
"cds_start": 1724,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000880617.1",
"gene_hgnc_id": 26220,
"gene_symbol": "PIF1",
"hgvs_c": "c.1724T>G",
"hgvs_p": "p.Ile575Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550676.1",
"strand": false,
"transcript": "ENST00000880617.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 576,
"aa_ref": "I",
"aa_start": 575,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2471,
"cdna_start": 1798,
"cds_end": null,
"cds_length": 1731,
"cds_start": 1724,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000923756.1",
"gene_hgnc_id": 26220,
"gene_symbol": "PIF1",
"hgvs_c": "c.1724T>G",
"hgvs_p": "p.Ile575Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593815.1",
"strand": false,
"transcript": "ENST00000923756.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 572,
"aa_ref": "I",
"aa_start": 571,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2426,
"cdna_start": 1753,
"cds_end": null,
"cds_length": 1719,
"cds_start": 1712,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000923759.1",
"gene_hgnc_id": 26220,
"gene_symbol": "PIF1",
"hgvs_c": "c.1712T>G",
"hgvs_p": "p.Ile571Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593818.1",
"strand": false,
"transcript": "ENST00000923759.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 567,
"aa_ref": "I",
"aa_start": 566,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2461,
"cdna_start": 1788,
"cds_end": null,
"cds_length": 1704,
"cds_start": 1697,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000923744.1",
"gene_hgnc_id": 26220,
"gene_symbol": "PIF1",
"hgvs_c": "c.1697T>G",
"hgvs_p": "p.Ile566Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593803.1",
"strand": false,
"transcript": "ENST00000923744.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 558,
"aa_ref": "I",
"aa_start": 557,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2392,
"cdna_start": 1725,
"cds_end": null,
"cds_length": 1677,
"cds_start": 1670,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000923758.1",
"gene_hgnc_id": 26220,
"gene_symbol": "PIF1",
"hgvs_c": "c.1670T>G",
"hgvs_p": "p.Ile557Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593817.1",
"strand": false,
"transcript": "ENST00000923758.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 514,
"aa_ref": "I",
"aa_start": 513,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2264,
"cdna_start": 1591,
"cds_end": null,
"cds_length": 1545,
"cds_start": 1538,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000923754.1",
"gene_hgnc_id": 26220,
"gene_symbol": "PIF1",
"hgvs_c": "c.1538T>G",
"hgvs_p": "p.Ile513Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593813.1",
"strand": false,
"transcript": "ENST00000923754.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 641,
"aa_ref": "I",
"aa_start": 640,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2692,
"cdna_start": 2019,
"cds_end": null,
"cds_length": 1926,
"cds_start": 1919,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_011522083.3",
"gene_hgnc_id": 26220,
"gene_symbol": "PIF1",
"hgvs_c": "c.1919T>G",
"hgvs_p": "p.Ile640Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520385.1",
"strand": false,
"transcript": "XM_011522083.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 641,
"aa_ref": "I",
"aa_start": 640,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2788,
"cdna_start": 2115,
"cds_end": null,
"cds_length": 1926,
"cds_start": 1919,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_011522084.3",
"gene_hgnc_id": 26220,
"gene_symbol": "PIF1",
"hgvs_c": "c.1919T>G",
"hgvs_p": "p.Ile640Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520386.1",
"strand": false,
"transcript": "XM_011522084.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 707,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2257,
"cdna_start": null,
"cds_end": null,
"cds_length": 2124,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001286497.2",
"gene_hgnc_id": 26220,
"gene_symbol": "PIF1",
"hgvs_c": "c.1866+269T>G",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273426.1",
"strand": false,
"transcript": "NM_001286497.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs17802279",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 26220,
"gene_symbol": "PIF1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.544,
"pos": 64816305,
"ref": "A",
"revel_prediction": "Benign",
"revel_score": 0.052,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_025049.4"
}
]
}