← 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: 1-20813208-GG-CT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=20813208&ref=GG&alt=CT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "EIF4G3",
"hgnc_id": 3298,
"hgvs_c": "c.4636_4637delCCinsAG",
"hgvs_p": "p.Pro1546Ser",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001391907.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1641,
"aa_ref": "P",
"aa_start": 1516,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6397,
"cdna_start": 5178,
"cds_end": null,
"cds_length": 4926,
"cds_start": 4546,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001391906.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4546_4547delCCinsAG",
"hgvs_p": "p.Pro1516Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000602326.6",
"protein_coding": true,
"protein_id": "NP_001378835.1",
"strand": false,
"transcript": "NM_001391906.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1641,
"aa_ref": "P",
"aa_start": 1516,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6397,
"cdna_start": 5178,
"cds_end": null,
"cds_length": 4926,
"cds_start": 4546,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000602326.6",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4546_4547delCCinsAG",
"hgvs_p": "p.Pro1516Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001391906.1",
"protein_coding": true,
"protein_id": "ENSP00000473510.2",
"strand": false,
"transcript": "ENST00000602326.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1621,
"aa_ref": "P",
"aa_start": 1496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5762,
"cdna_start": 5068,
"cds_end": null,
"cds_length": 4866,
"cds_start": 4486,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000400422.6",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4486_4487delCCinsAG",
"hgvs_p": "p.Pro1496Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383274.2",
"strand": false,
"transcript": "ENST00000400422.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1895,
"aa_ref": "P",
"aa_start": 1770,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5688,
"cdna_start": 5309,
"cds_end": null,
"cds_length": 5688,
"cds_start": 5308,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000693470.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.5308_5309delCCinsAG",
"hgvs_p": "p.Pro1770Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509295.1",
"strand": false,
"transcript": "ENST00000693470.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1774,
"aa_ref": "P",
"aa_start": 1649,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5325,
"cdna_start": 4946,
"cds_end": null,
"cds_length": 5325,
"cds_start": 4945,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000634879.2",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4945_4946delCCinsAG",
"hgvs_p": "p.Pro1649Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489051.2",
"strand": false,
"transcript": "ENST00000634879.2",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1747,
"aa_ref": "P",
"aa_start": 1622,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6528,
"cdna_start": 5309,
"cds_end": null,
"cds_length": 5244,
"cds_start": 4864,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000685872.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4864_4865delCCinsAG",
"hgvs_p": "p.Pro1622Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509442.1",
"strand": false,
"transcript": "ENST00000685872.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1671,
"aa_ref": "P",
"aa_start": 1546,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6487,
"cdna_start": 5268,
"cds_end": null,
"cds_length": 5016,
"cds_start": 4636,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001391907.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4636_4637delCCinsAG",
"hgvs_p": "p.Pro1546Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001378836.1",
"strand": false,
"transcript": "NM_001391907.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1640,
"aa_ref": "P",
"aa_start": 1515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7832,
"cdna_start": 6622,
"cds_end": null,
"cds_length": 4923,
"cds_start": 4543,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000684485.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4543_4544delCCinsAG",
"hgvs_p": "p.Pro1515Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507662.1",
"strand": false,
"transcript": "ENST00000684485.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1634,
"aa_ref": "P",
"aa_start": 1509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6253,
"cdna_start": 5034,
"cds_end": null,
"cds_length": 4905,
"cds_start": 4525,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001438678.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4525_4526delCCinsAG",
"hgvs_p": "p.Pro1509Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425607.1",
"strand": false,
"transcript": "NM_001438678.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1634,
"aa_ref": "P",
"aa_start": 1509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6070,
"cdna_start": 4851,
"cds_end": null,
"cds_length": 4905,
"cds_start": 4525,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001438679.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4525_4526delCCinsAG",
"hgvs_p": "p.Pro1509Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425608.1",
"strand": false,
"transcript": "NM_001438679.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1633,
"aa_ref": "P",
"aa_start": 1508,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6250,
"cdna_start": 5031,
"cds_end": null,
"cds_length": 4902,
"cds_start": 4522,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001391905.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4522_4523delCCinsAG",
"hgvs_p": "p.Pro1508Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001378834.1",
"strand": false,
"transcript": "NM_001391905.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1633,
"aa_ref": "P",
"aa_start": 1508,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6064,
"cdna_start": 4854,
"cds_end": null,
"cds_length": 4902,
"cds_start": 4522,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000688741.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4522_4523delCCinsAG",
"hgvs_p": "p.Pro1508Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509547.1",
"strand": false,
"transcript": "ENST00000688741.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1622,
"aa_ref": "P",
"aa_start": 1497,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6340,
"cdna_start": 5121,
"cds_end": null,
"cds_length": 4869,
"cds_start": 4489,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001391902.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4489_4490delCCinsAG",
"hgvs_p": "p.Pro1497Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001378831.1",
"strand": false,
"transcript": "NM_001391902.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1622,
"aa_ref": "P",
"aa_start": 1497,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6156,
"cdna_start": 4937,
"cds_end": null,
"cds_length": 4869,
"cds_start": 4489,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001391903.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4489_4490delCCinsAG",
"hgvs_p": "p.Pro1497Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001378832.1",
"strand": false,
"transcript": "NM_001391903.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1622,
"aa_ref": "P",
"aa_start": 1497,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6340,
"cdna_start": 5121,
"cds_end": null,
"cds_length": 4869,
"cds_start": 4489,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001391904.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4489_4490delCCinsAG",
"hgvs_p": "p.Pro1497Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001378833.1",
"strand": false,
"transcript": "NM_001391904.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1621,
"aa_ref": "P",
"aa_start": 1496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6337,
"cdna_start": 5118,
"cds_end": null,
"cds_length": 4866,
"cds_start": 4486,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001198801.3",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4486_4487delCCinsAG",
"hgvs_p": "p.Pro1496Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001185730.1",
"strand": false,
"transcript": "NM_001198801.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1592,
"aa_ref": "P",
"aa_start": 1467,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6250,
"cdna_start": 5031,
"cds_end": null,
"cds_length": 4779,
"cds_start": 4399,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001391901.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4399_4400delCCinsAG",
"hgvs_p": "p.Pro1467Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001378830.1",
"strand": false,
"transcript": "NM_001391901.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1591,
"aa_ref": "P",
"aa_start": 1466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6247,
"cdna_start": 5028,
"cds_end": null,
"cds_length": 4776,
"cds_start": 4396,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001198802.3",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4396_4397delCCinsAG",
"hgvs_p": "p.Pro1466Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001185731.1",
"strand": false,
"transcript": "NM_001198802.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1591,
"aa_ref": "P",
"aa_start": 1466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6631,
"cdna_start": 5416,
"cds_end": null,
"cds_length": 4776,
"cds_start": 4396,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000686579.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4396_4397delCCinsAG",
"hgvs_p": "p.Pro1466Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509941.1",
"strand": false,
"transcript": "ENST00000686579.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1585,
"aa_ref": "P",
"aa_start": 1460,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6229,
"cdna_start": 5010,
"cds_end": null,
"cds_length": 4758,
"cds_start": 4378,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001391892.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4378_4379delCCinsAG",
"hgvs_p": "p.Pro1460Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001378821.1",
"strand": false,
"transcript": "NM_001391892.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1585,
"aa_ref": "P",
"aa_start": 1460,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5969,
"cdna_start": 4750,
"cds_end": null,
"cds_length": 4758,
"cds_start": 4378,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001391893.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4378_4379delCCinsAG",
"hgvs_p": "p.Pro1460Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001378822.1",
"strand": false,
"transcript": "NM_001391893.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1585,
"aa_ref": "P",
"aa_start": 1460,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6106,
"cdna_start": 4887,
"cds_end": null,
"cds_length": 4758,
"cds_start": 4378,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001391894.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4378_4379delCCinsAG",
"hgvs_p": "p.Pro1460Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001378823.1",
"strand": false,
"transcript": "NM_001391894.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1585,
"aa_ref": "P",
"aa_start": 1460,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6041,
"cdna_start": 4635,
"cds_end": null,
"cds_length": 4758,
"cds_start": 4378,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_003760.4",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4378_4379delCCinsAG",
"hgvs_p": "p.Pro1460Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_003751.2",
"strand": false,
"transcript": "NM_003760.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1585,
"aa_ref": "P",
"aa_start": 1460,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5793,
"cdna_start": 4574,
"cds_end": null,
"cds_length": 4758,
"cds_start": 4378,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000264211.13",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4378_4379delCCinsAG",
"hgvs_p": "p.Pro1460Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000264211.7",
"strand": false,
"transcript": "ENST00000264211.13",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1584,
"aa_ref": "P",
"aa_start": 1459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5966,
"cdna_start": 4747,
"cds_end": null,
"cds_length": 4755,
"cds_start": 4375,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001391899.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4375_4376delCCinsAG",
"hgvs_p": "p.Pro1459Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001378828.1",
"strand": false,
"transcript": "NM_001391899.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1584,
"aa_ref": "P",
"aa_start": 1459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6226,
"cdna_start": 5007,
"cds_end": null,
"cds_length": 4755,
"cds_start": 4375,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001391900.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4375_4376delCCinsAG",
"hgvs_p": "p.Pro1459Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001378829.1",
"strand": false,
"transcript": "NM_001391900.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1547,
"aa_ref": "P",
"aa_start": 1471,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6115,
"cdna_start": 5043,
"cds_end": null,
"cds_length": 4644,
"cds_start": 4411,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001391898.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4411_4412delCCinsAG",
"hgvs_p": "p.Pro1471Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001378827.1",
"strand": false,
"transcript": "NM_001391898.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1536,
"aa_ref": "P",
"aa_start": 1411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6352,
"cdna_start": 5133,
"cds_end": null,
"cds_length": 4611,
"cds_start": 4231,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001391897.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4231_4232delCCinsAG",
"hgvs_p": "p.Pro1411Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001378826.1",
"strand": false,
"transcript": "NM_001391897.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1535,
"aa_ref": "P",
"aa_start": 1459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6079,
"cdna_start": 5007,
"cds_end": null,
"cds_length": 4608,
"cds_start": 4375,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001391896.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4375_4376delCCinsAG",
"hgvs_p": "p.Pro1459Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001378825.1",
"strand": false,
"transcript": "NM_001391896.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1305,
"aa_ref": "P",
"aa_start": 1180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5389,
"cdna_start": 4170,
"cds_end": null,
"cds_length": 3918,
"cds_start": 3538,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001437614.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.3538_3539delCCinsAG",
"hgvs_p": "p.Pro1180Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424543.1",
"strand": false,
"transcript": "NM_001437614.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1305,
"aa_ref": "P",
"aa_start": 1180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5567,
"cdna_start": 4161,
"cds_end": null,
"cds_length": 3918,
"cds_start": 3538,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000374935.7",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.3538_3539delCCinsAG",
"hgvs_p": "p.Pro1180Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364071.3",
"strand": false,
"transcript": "ENST00000374935.7",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1822,
"aa_ref": "P",
"aa_start": 1697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6517,
"cdna_start": 5111,
"cds_end": null,
"cds_length": 5469,
"cds_start": 5089,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433231.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.5089_5090delCCinsAG",
"hgvs_p": "p.Pro1697Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289187.1",
"strand": false,
"transcript": "XM_047433231.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1678,
"aa_ref": "P",
"aa_start": 1553,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6695,
"cdna_start": 5289,
"cds_end": null,
"cds_length": 5037,
"cds_start": 4657,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011542370.3",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4657_4658delCCinsAG",
"hgvs_p": "p.Pro1553Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011540672.1",
"strand": false,
"transcript": "XM_011542370.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1678,
"aa_ref": "P",
"aa_start": 1553,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6267,
"cdna_start": 4861,
"cds_end": null,
"cds_length": 5037,
"cds_start": 4657,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433196.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4657_4658delCCinsAG",
"hgvs_p": "p.Pro1553Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289152.1",
"strand": false,
"transcript": "XM_047433196.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1677,
"aa_ref": "P",
"aa_start": 1552,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6393,
"cdna_start": 4987,
"cds_end": null,
"cds_length": 5034,
"cds_start": 4654,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433198.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4654_4655delCCinsAG",
"hgvs_p": "p.Pro1552Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289154.1",
"strand": false,
"transcript": "XM_047433198.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1671,
"aa_ref": "P",
"aa_start": 1546,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6375,
"cdna_start": 4969,
"cds_end": null,
"cds_length": 5016,
"cds_start": 4636,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433201.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4636_4637delCCinsAG",
"hgvs_p": "p.Pro1546Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289157.1",
"strand": false,
"transcript": "XM_047433201.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1670,
"aa_ref": "P",
"aa_start": 1545,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6372,
"cdna_start": 4966,
"cds_end": null,
"cds_length": 5013,
"cds_start": 4633,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433205.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4633_4634delCCinsAG",
"hgvs_p": "p.Pro1545Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289161.1",
"strand": false,
"transcript": "XM_047433205.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1667,
"aa_ref": "P",
"aa_start": 1542,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6363,
"cdna_start": 4957,
"cds_end": null,
"cds_length": 5004,
"cds_start": 4624,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433212.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4624_4625delCCinsAG",
"hgvs_p": "p.Pro1542Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289168.1",
"strand": false,
"transcript": "XM_047433212.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1660,
"aa_ref": "P",
"aa_start": 1535,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6342,
"cdna_start": 4936,
"cds_end": null,
"cds_length": 4983,
"cds_start": 4603,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017002677.3",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4603_4604delCCinsAG",
"hgvs_p": "p.Pro1535Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016858166.1",
"strand": false,
"transcript": "XM_017002677.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1641,
"aa_ref": "P",
"aa_start": 1516,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6285,
"cdna_start": 4879,
"cds_end": null,
"cds_length": 4926,
"cds_start": 4546,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433242.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4546_4547delCCinsAG",
"hgvs_p": "p.Pro1516Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289198.1",
"strand": false,
"transcript": "XM_047433242.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1640,
"aa_ref": "P",
"aa_start": 1515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6282,
"cdna_start": 4876,
"cds_end": null,
"cds_length": 4923,
"cds_start": 4543,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433253.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4543_4544delCCinsAG",
"hgvs_p": "p.Pro1515Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289209.1",
"strand": false,
"transcript": "XM_047433253.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1640,
"aa_ref": "P",
"aa_start": 1515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6282,
"cdna_start": 4876,
"cds_end": null,
"cds_length": 4923,
"cds_start": 4543,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433261.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4543_4544delCCinsAG",
"hgvs_p": "p.Pro1515Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289217.1",
"strand": false,
"transcript": "XM_047433261.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1633,
"aa_ref": "P",
"aa_start": 1508,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6261,
"cdna_start": 4855,
"cds_end": null,
"cds_length": 4902,
"cds_start": 4522,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011542371.3",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4522_4523delCCinsAG",
"hgvs_p": "p.Pro1508Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011540673.1",
"strand": false,
"transcript": "XM_011542371.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1632,
"aa_ref": "P",
"aa_start": 1507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6121,
"cdna_start": 4715,
"cds_end": null,
"cds_length": 4899,
"cds_start": 4519,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433266.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4519_4520delCCinsAG",
"hgvs_p": "p.Pro1507Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289222.1",
"strand": false,
"transcript": "XM_047433266.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1630,
"aa_ref": "P",
"aa_start": 1505,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6252,
"cdna_start": 4846,
"cds_end": null,
"cds_length": 4893,
"cds_start": 4513,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433267.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4513_4514delCCinsAG",
"hgvs_p": "p.Pro1505Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289223.1",
"strand": false,
"transcript": "XM_047433267.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1629,
"aa_ref": "P",
"aa_start": 1504,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6249,
"cdna_start": 4843,
"cds_end": null,
"cds_length": 4890,
"cds_start": 4510,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433268.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4510_4511delCCinsAG",
"hgvs_p": "p.Pro1504Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289224.1",
"strand": false,
"transcript": "XM_047433268.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1629,
"aa_ref": "P",
"aa_start": 1553,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6249,
"cdna_start": 4990,
"cds_end": null,
"cds_length": 4890,
"cds_start": 4657,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433269.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4657_4658delCCinsAG",
"hgvs_p": "p.Pro1553Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289225.1",
"strand": false,
"transcript": "XM_047433269.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1629,
"aa_ref": "P",
"aa_start": 1504,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6249,
"cdna_start": 4843,
"cds_end": null,
"cds_length": 4890,
"cds_start": 4510,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433274.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4510_4511delCCinsAG",
"hgvs_p": "p.Pro1504Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289230.1",
"strand": false,
"transcript": "XM_047433274.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1628,
"aa_ref": "P",
"aa_start": 1552,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6246,
"cdna_start": 4987,
"cds_end": null,
"cds_length": 4887,
"cds_start": 4654,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433279.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4654_4655delCCinsAG",
"hgvs_p": "p.Pro1552Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289235.1",
"strand": false,
"transcript": "XM_047433279.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1623,
"aa_ref": "P",
"aa_start": 1498,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6231,
"cdna_start": 4825,
"cds_end": null,
"cds_length": 4872,
"cds_start": 4492,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433282.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4492_4493delCCinsAG",
"hgvs_p": "p.Pro1498Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289238.1",
"strand": false,
"transcript": "XM_047433282.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1622,
"aa_ref": "P",
"aa_start": 1497,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6228,
"cdna_start": 4822,
"cds_end": null,
"cds_length": 4869,
"cds_start": 4489,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433283.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4489_4490delCCinsAG",
"hgvs_p": "p.Pro1497Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289239.1",
"strand": false,
"transcript": "XM_047433283.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1622,
"aa_ref": "P",
"aa_start": 1497,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6228,
"cdna_start": 4822,
"cds_end": null,
"cds_length": 4869,
"cds_start": 4489,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433287.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4489_4490delCCinsAG",
"hgvs_p": "p.Pro1497Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289243.1",
"strand": false,
"transcript": "XM_047433287.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1621,
"aa_ref": "P",
"aa_start": 1496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6225,
"cdna_start": 4819,
"cds_end": null,
"cds_length": 4866,
"cds_start": 4486,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433291.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4486_4487delCCinsAG",
"hgvs_p": "p.Pro1496Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289247.1",
"strand": false,
"transcript": "XM_047433291.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1596,
"aa_ref": "P",
"aa_start": 1471,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6150,
"cdna_start": 4744,
"cds_end": null,
"cds_length": 4791,
"cds_start": 4411,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433294.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4411_4412delCCinsAG",
"hgvs_p": "p.Pro1471Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289250.1",
"strand": false,
"transcript": "XM_047433294.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1595,
"aa_ref": "P",
"aa_start": 1470,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6147,
"cdna_start": 4741,
"cds_end": null,
"cds_length": 4788,
"cds_start": 4408,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433296.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4408_4409delCCinsAG",
"hgvs_p": "p.Pro1470Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289252.1",
"strand": false,
"transcript": "XM_047433296.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1592,
"aa_ref": "P",
"aa_start": 1516,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6138,
"cdna_start": 4879,
"cds_end": null,
"cds_length": 4779,
"cds_start": 4546,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433302.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4546_4547delCCinsAG",
"hgvs_p": "p.Pro1516Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289258.1",
"strand": false,
"transcript": "XM_047433302.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1591,
"aa_ref": "P",
"aa_start": 1466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6135,
"cdna_start": 4729,
"cds_end": null,
"cds_length": 4776,
"cds_start": 4396,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433312.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4396_4397delCCinsAG",
"hgvs_p": "p.Pro1466Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289268.1",
"strand": false,
"transcript": "XM_047433312.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1591,
"aa_ref": "P",
"aa_start": 1515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6135,
"cdna_start": 4876,
"cds_end": null,
"cds_length": 4776,
"cds_start": 4543,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433315.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4543_4544delCCinsAG",
"hgvs_p": "p.Pro1515Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289271.1",
"strand": false,
"transcript": "XM_047433315.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1585,
"aa_ref": "P",
"aa_start": 1460,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5981,
"cdna_start": 4575,
"cds_end": null,
"cds_length": 4758,
"cds_start": 4378,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433319.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4378_4379delCCinsAG",
"hgvs_p": "p.Pro1460Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289275.1",
"strand": false,
"transcript": "XM_047433319.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1584,
"aa_ref": "P",
"aa_start": 1459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6290,
"cdna_start": 4884,
"cds_end": null,
"cds_length": 4755,
"cds_start": 4375,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433321.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4375_4376delCCinsAG",
"hgvs_p": "p.Pro1459Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289277.1",
"strand": false,
"transcript": "XM_047433321.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1573,
"aa_ref": "P",
"aa_start": 1448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6129,
"cdna_start": 4723,
"cds_end": null,
"cds_length": 4722,
"cds_start": 4342,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433323.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4342_4343delCCinsAG",
"hgvs_p": "p.Pro1448Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289279.1",
"strand": false,
"transcript": "XM_047433323.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1572,
"aa_ref": "P",
"aa_start": 1496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6377,
"cdna_start": 5118,
"cds_end": null,
"cds_length": 4719,
"cds_start": 4486,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433324.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4486_4487delCCinsAG",
"hgvs_p": "p.Pro1496Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289280.1",
"strand": false,
"transcript": "XM_047433324.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1562,
"aa_ref": "P",
"aa_start": 1437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6048,
"cdna_start": 4642,
"cds_end": null,
"cds_length": 4689,
"cds_start": 4309,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433329.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4309_4310delCCinsAG",
"hgvs_p": "p.Pro1437Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289285.1",
"strand": false,
"transcript": "XM_047433329.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1561,
"aa_ref": "P",
"aa_start": 1436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6045,
"cdna_start": 4639,
"cds_end": null,
"cds_length": 4686,
"cds_start": 4306,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433337.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4306_4307delCCinsAG",
"hgvs_p": "p.Pro1436Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289293.1",
"strand": false,
"transcript": "XM_047433337.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1536,
"aa_ref": "P",
"aa_start": 1460,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6269,
"cdna_start": 5010,
"cds_end": null,
"cds_length": 4611,
"cds_start": 4378,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433340.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4378_4379delCCinsAG",
"hgvs_p": "p.Pro1460Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289296.1",
"strand": false,
"transcript": "XM_047433340.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1525,
"aa_ref": "P",
"aa_start": 1400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5937,
"cdna_start": 4531,
"cds_end": null,
"cds_length": 4578,
"cds_start": 4198,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433345.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4198_4199delCCinsAG",
"hgvs_p": "p.Pro1400Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289301.1",
"strand": false,
"transcript": "XM_047433345.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1524,
"aa_ref": "P",
"aa_start": 1399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5934,
"cdna_start": 4528,
"cds_end": null,
"cds_length": 4575,
"cds_start": 4195,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433348.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4195_4196delCCinsAG",
"hgvs_p": "p.Pro1399Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289304.1",
"strand": false,
"transcript": "XM_047433348.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1398,
"aa_ref": "P",
"aa_start": 1273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5556,
"cdna_start": 4150,
"cds_end": null,
"cds_length": 4197,
"cds_start": 3817,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433352.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.3817_3818delCCinsAG",
"hgvs_p": "p.Pro1273Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289308.1",
"strand": false,
"transcript": "XM_047433352.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1361,
"aa_ref": "P",
"aa_start": 1236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5445,
"cdna_start": 4039,
"cds_end": null,
"cds_length": 4086,
"cds_start": 3706,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433353.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.3706_3707delCCinsAG",
"hgvs_p": "p.Pro1236Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289309.1",
"strand": false,
"transcript": "XM_047433353.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1360,
"aa_ref": "P",
"aa_start": 1235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5442,
"cdna_start": 4036,
"cds_end": null,
"cds_length": 4083,
"cds_start": 3703,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433354.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.3703_3704delCCinsAG",
"hgvs_p": "p.Pro1235Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289310.1",
"strand": false,
"transcript": "XM_047433354.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1342,
"aa_ref": "P",
"aa_start": 1217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5687,
"cdna_start": 4281,
"cds_end": null,
"cds_length": 4029,
"cds_start": 3649,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017002707.3",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.3649_3650delCCinsAG",
"hgvs_p": "p.Pro1217Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016858196.1",
"strand": false,
"transcript": "XM_017002707.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1304,
"aa_ref": "P",
"aa_start": 1179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5573,
"cdna_start": 4167,
"cds_end": null,
"cds_length": 3915,
"cds_start": 3535,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433366.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.3535_3536delCCinsAG",
"hgvs_p": "p.Pro1179Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289322.1",
"strand": false,
"transcript": "XM_047433366.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1597,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000435383.2",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "n.*745_*746delCCinsAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000506664.1",
"strand": false,
"transcript": "ENST00000435383.2",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5993,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 34,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000681717.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "n.*4427_*4428delCCinsAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000504941.1",
"strand": false,
"transcript": "ENST00000681717.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5884,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 33,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000681767.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "n.*4483_*4484delCCinsAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000506471.1",
"strand": false,
"transcript": "ENST00000681767.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5344,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 34,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000685814.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "n.*4637_*4638delCCinsAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000510195.1",
"strand": false,
"transcript": "ENST00000685814.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1597,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000435383.2",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "n.*745_*746delCCinsAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000506664.1",
"strand": false,
"transcript": "ENST00000435383.2",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5993,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 34,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000681717.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "n.*4427_*4428delCCinsAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000504941.1",
"strand": false,
"transcript": "ENST00000681717.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5884,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 33,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000681767.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "n.*4483_*4484delCCinsAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000506471.1",
"strand": false,
"transcript": "ENST00000681767.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5344,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 34,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000685814.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "n.*4637_*4638delCCinsAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000510195.1",
"strand": false,
"transcript": "ENST00000685814.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"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": "Uncertain_significance",
"phylop100way_score": 7.488,
"pos": 20813208,
"ref": "GG",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001391907.1"
}
]
}