← 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: 3-184327401-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=184327401&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 184327401,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000346169.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.3614G>A",
"hgvs_p": "p.Arg1205His",
"transcript": "NM_198241.3",
"protein_id": "NP_937884.2",
"transcript_support_level": null,
"aa_start": 1205,
"aa_end": null,
"aa_length": 1599,
"cds_start": 3614,
"cds_end": null,
"cds_length": 4800,
"cdna_start": 3774,
"cdna_end": null,
"cdna_length": 5405,
"mane_select": "ENST00000346169.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.3614G>A",
"hgvs_p": "p.Arg1205His",
"transcript": "ENST00000346169.7",
"protein_id": "ENSP00000316879.5",
"transcript_support_level": 1,
"aa_start": 1205,
"aa_end": null,
"aa_length": 1599,
"cds_start": 3614,
"cds_end": null,
"cds_length": 4800,
"cdna_start": 3774,
"cdna_end": null,
"cdna_length": 5405,
"mane_select": "NM_198241.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.3635G>A",
"hgvs_p": "p.Arg1212His",
"transcript": "ENST00000352767.7",
"protein_id": "ENSP00000338020.4",
"transcript_support_level": 1,
"aa_start": 1212,
"aa_end": null,
"aa_length": 1606,
"cds_start": 3635,
"cds_end": null,
"cds_length": 4821,
"cdna_start": 3849,
"cdna_end": null,
"cdna_length": 5484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.3635G>A",
"hgvs_p": "p.Arg1212His",
"transcript": "ENST00000382330.7",
"protein_id": "ENSP00000371767.3",
"transcript_support_level": 1,
"aa_start": 1212,
"aa_end": null,
"aa_length": 1606,
"cds_start": 3635,
"cds_end": null,
"cds_length": 4821,
"cdna_start": 3834,
"cdna_end": null,
"cdna_length": 5129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.3617G>A",
"hgvs_p": "p.Arg1206His",
"transcript": "ENST00000342981.8",
"protein_id": "ENSP00000343450.4",
"transcript_support_level": 1,
"aa_start": 1206,
"aa_end": null,
"aa_length": 1600,
"cds_start": 3617,
"cds_end": null,
"cds_length": 4803,
"cdna_start": 4031,
"cdna_end": null,
"cdna_length": 5667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.3497G>A",
"hgvs_p": "p.Arg1166His",
"transcript": "ENST00000411531.5",
"protein_id": "ENSP00000395974.1",
"transcript_support_level": 1,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1560,
"cds_start": 3497,
"cds_end": null,
"cds_length": 4683,
"cdna_start": 3497,
"cdna_end": null,
"cdna_length": 4683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.3494G>A",
"hgvs_p": "p.Arg1165His",
"transcript": "ENST00000414031.5",
"protein_id": "ENSP00000391935.1",
"transcript_support_level": 1,
"aa_start": 1165,
"aa_end": null,
"aa_length": 1559,
"cds_start": 3494,
"cds_end": null,
"cds_length": 4680,
"cdna_start": 3938,
"cdna_end": null,
"cdna_length": 5569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.3122G>A",
"hgvs_p": "p.Arg1041His",
"transcript": "ENST00000350481.9",
"protein_id": "ENSP00000317600.8",
"transcript_support_level": 1,
"aa_start": 1041,
"aa_end": null,
"aa_length": 1435,
"cds_start": 3122,
"cds_end": null,
"cds_length": 4308,
"cdna_start": 3359,
"cdna_end": null,
"cdna_length": 4990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "n.*3053G>A",
"hgvs_p": null,
"transcript": "ENST00000442406.5",
"protein_id": "ENSP00000400351.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "n.*3053G>A",
"hgvs_p": null,
"transcript": "ENST00000442406.5",
"protein_id": "ENSP00000400351.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.3635G>A",
"hgvs_p": "p.Arg1212His",
"transcript": "NM_001194946.2",
"protein_id": "NP_001181875.2",
"transcript_support_level": null,
"aa_start": 1212,
"aa_end": null,
"aa_length": 1606,
"cds_start": 3635,
"cds_end": null,
"cds_length": 4821,
"cdna_start": 3795,
"cdna_end": null,
"cdna_length": 5426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.3635G>A",
"hgvs_p": "p.Arg1212His",
"transcript": "NM_001194947.2",
"protein_id": "NP_001181876.2",
"transcript_support_level": null,
"aa_start": 1212,
"aa_end": null,
"aa_length": 1606,
"cds_start": 3635,
"cds_end": null,
"cds_length": 4821,
"cdna_start": 3738,
"cdna_end": null,
"cdna_length": 5369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.3635G>A",
"hgvs_p": "p.Arg1212His",
"transcript": "ENST00000424196.5",
"protein_id": "ENSP00000416255.1",
"transcript_support_level": 2,
"aa_start": 1212,
"aa_end": null,
"aa_length": 1606,
"cds_start": 3635,
"cds_end": null,
"cds_length": 4821,
"cdna_start": 4024,
"cdna_end": null,
"cdna_length": 5653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.3617G>A",
"hgvs_p": "p.Arg1206His",
"transcript": "NM_182917.4",
"protein_id": "NP_886553.3",
"transcript_support_level": null,
"aa_start": 1206,
"aa_end": null,
"aa_length": 1600,
"cds_start": 3617,
"cds_end": null,
"cds_length": 4803,
"cdna_start": 4033,
"cdna_end": null,
"cdna_length": 5669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.3548G>A",
"hgvs_p": "p.Arg1183His",
"transcript": "ENST00000435046.7",
"protein_id": "ENSP00000404754.3",
"transcript_support_level": 5,
"aa_start": 1183,
"aa_end": null,
"aa_length": 1577,
"cds_start": 3548,
"cds_end": null,
"cds_length": 4734,
"cdna_start": 3747,
"cdna_end": null,
"cdna_length": 5042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.3494G>A",
"hgvs_p": "p.Arg1165His",
"transcript": "NM_001291157.2",
"protein_id": "NP_001278086.2",
"transcript_support_level": null,
"aa_start": 1165,
"aa_end": null,
"aa_length": 1559,
"cds_start": 3494,
"cds_end": null,
"cds_length": 4680,
"cdna_start": 3834,
"cdna_end": null,
"cdna_length": 5465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.3356G>A",
"hgvs_p": "p.Arg1119His",
"transcript": "ENST00000427845.5",
"protein_id": "ENSP00000407682.1",
"transcript_support_level": 5,
"aa_start": 1119,
"aa_end": null,
"aa_length": 1513,
"cds_start": 3356,
"cds_end": null,
"cds_length": 4542,
"cdna_start": 3852,
"cdna_end": null,
"cdna_length": 5038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.3353G>A",
"hgvs_p": "p.Arg1118His",
"transcript": "NM_198244.3",
"protein_id": "NP_937887.2",
"transcript_support_level": null,
"aa_start": 1118,
"aa_end": null,
"aa_length": 1512,
"cds_start": 3353,
"cds_end": null,
"cds_length": 4539,
"cdna_start": 3536,
"cdna_end": null,
"cdna_length": 5167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.3353G>A",
"hgvs_p": "p.Arg1118His",
"transcript": "ENST00000392537.6",
"protein_id": "ENSP00000376320.2",
"transcript_support_level": 2,
"aa_start": 1118,
"aa_end": null,
"aa_length": 1512,
"cds_start": 3353,
"cds_end": null,
"cds_length": 4539,
"cdna_start": 3600,
"cdna_end": null,
"cdna_length": 5229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.3125G>A",
"hgvs_p": "p.Arg1042His",
"transcript": "ENST00000441154.5",
"protein_id": "ENSP00000399858.1",
"transcript_support_level": 5,
"aa_start": 1042,
"aa_end": null,
"aa_length": 1436,
"cds_start": 3125,
"cds_end": null,
"cds_length": 4311,
"cdna_start": 3125,
"cdna_end": null,
"cdna_length": 4311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.3122G>A",
"hgvs_p": "p.Arg1041His",
"transcript": "NM_198242.3",
"protein_id": "NP_937885.1",
"transcript_support_level": null,
"aa_start": 1041,
"aa_end": null,
"aa_length": 1435,
"cds_start": 3122,
"cds_end": null,
"cds_length": 4308,
"cdna_start": 3359,
"cdna_end": null,
"cdna_length": 4990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.3029G>A",
"hgvs_p": "p.Arg1010His",
"transcript": "NM_004953.5",
"protein_id": "NP_004944.3",
"transcript_support_level": null,
"aa_start": 1010,
"aa_end": null,
"aa_length": 1404,
"cds_start": 3029,
"cds_end": null,
"cds_length": 4215,
"cdna_start": 3447,
"cdna_end": null,
"cdna_length": 5078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.3029G>A",
"hgvs_p": "p.Arg1010His",
"transcript": "ENST00000434061.6",
"protein_id": "ENSP00000411826.2",
"transcript_support_level": 2,
"aa_start": 1010,
"aa_end": null,
"aa_length": 1404,
"cds_start": 3029,
"cds_end": null,
"cds_length": 4215,
"cdna_start": 3397,
"cdna_end": null,
"cdna_length": 5026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "n.116G>A",
"hgvs_p": null,
"transcript": "ENST00000482303.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "n.*1383G>A",
"hgvs_p": null,
"transcript": "ENST00000676453.1",
"protein_id": "ENSP00000501695.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "n.*1383G>A",
"hgvs_p": null,
"transcript": "ENST00000676453.1",
"protein_id": "ENSP00000501695.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.*98G>A",
"hgvs_p": null,
"transcript": "ENST00000448284.1",
"protein_id": "ENSP00000392908.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 224,
"cds_start": -4,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"dbsnp": "rs112176450",
"frequency_reference_population": 0.00029750026,
"hom_count_reference_population": 1,
"allele_count_reference_population": 480,
"gnomad_exomes_af": 0.00030317,
"gnomad_genomes_af": 0.000243069,
"gnomad_exomes_ac": 443,
"gnomad_genomes_ac": 37,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4962206780910492,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.24,
"revel_prediction": "Benign",
"alphamissense_score": 0.2331,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.085,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000346169.7",
"gene_symbol": "EIF4G1",
"hgnc_id": 3296,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.3614G>A",
"hgvs_p": "p.Arg1205His"
}
],
"clinvar_disease": " autosomal dominant, susceptibility to,Parkinson disease 18",
"clinvar_classification": "risk factor",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Parkinson disease 18, autosomal dominant, susceptibility to",
"pathogenicity_classification_combined": "risk factor",
"custom_annotations": null
}
],
"message": null
}