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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 3-184317429-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=184317429&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 184317429,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001194946.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.256C>G",
"hgvs_p": "p.Gln86Glu",
"transcript": "NM_198241.3",
"protein_id": "NP_937884.2",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 1599,
"cds_start": 256,
"cds_end": null,
"cds_length": 4800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000346169.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198241.3"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.256C>G",
"hgvs_p": "p.Gln86Glu",
"transcript": "ENST00000346169.7",
"protein_id": "ENSP00000316879.5",
"transcript_support_level": 1,
"aa_start": 86,
"aa_end": null,
"aa_length": 1599,
"cds_start": 256,
"cds_end": null,
"cds_length": 4800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198241.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346169.7"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.277C>G",
"hgvs_p": "p.Gln93Glu",
"transcript": "ENST00000352767.7",
"protein_id": "ENSP00000338020.4",
"transcript_support_level": 1,
"aa_start": 93,
"aa_end": null,
"aa_length": 1606,
"cds_start": 277,
"cds_end": null,
"cds_length": 4821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352767.7"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.277C>G",
"hgvs_p": "p.Gln93Glu",
"transcript": "ENST00000382330.7",
"protein_id": "ENSP00000371767.3",
"transcript_support_level": 1,
"aa_start": 93,
"aa_end": null,
"aa_length": 1606,
"cds_start": 277,
"cds_end": null,
"cds_length": 4821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382330.7"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.256C>G",
"hgvs_p": "p.Gln86Glu",
"transcript": "ENST00000342981.8",
"protein_id": "ENSP00000343450.4",
"transcript_support_level": 1,
"aa_start": 86,
"aa_end": null,
"aa_length": 1600,
"cds_start": 256,
"cds_end": null,
"cds_length": 4803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342981.8"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.136C>G",
"hgvs_p": "p.Gln46Glu",
"transcript": "ENST00000411531.5",
"protein_id": "ENSP00000395974.1",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 1560,
"cds_start": 136,
"cds_end": null,
"cds_length": 4683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000411531.5"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.136C>G",
"hgvs_p": "p.Gln46Glu",
"transcript": "ENST00000414031.5",
"protein_id": "ENSP00000391935.1",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 1559,
"cds_start": 136,
"cds_end": null,
"cds_length": 4680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000414031.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.-168-288C>G",
"hgvs_p": null,
"transcript": "ENST00000350481.9",
"protein_id": "ENSP00000317600.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1435,
"cds_start": null,
"cds_end": null,
"cds_length": 4308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000350481.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "n.-168-288C>G",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000442406.5"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.277C>G",
"hgvs_p": "p.Gln93Glu",
"transcript": "NM_001194946.2",
"protein_id": "NP_001181875.2",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 1606,
"cds_start": 277,
"cds_end": null,
"cds_length": 4821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001194946.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.277C>G",
"hgvs_p": "p.Gln93Glu",
"transcript": "NM_001194947.2",
"protein_id": "NP_001181876.2",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 1606,
"cds_start": 277,
"cds_end": null,
"cds_length": 4821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001194947.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.277C>G",
"hgvs_p": "p.Gln93Glu",
"transcript": "ENST00000424196.5",
"protein_id": "ENSP00000416255.1",
"transcript_support_level": 2,
"aa_start": 93,
"aa_end": null,
"aa_length": 1606,
"cds_start": 277,
"cds_end": null,
"cds_length": 4821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424196.5"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.256C>G",
"hgvs_p": "p.Gln86Glu",
"transcript": "NM_182917.4",
"protein_id": "NP_886553.3",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 1600,
"cds_start": 256,
"cds_end": null,
"cds_length": 4803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182917.4"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.256C>G",
"hgvs_p": "p.Gln86Glu",
"transcript": "ENST00000891266.1",
"protein_id": "ENSP00000561325.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 1599,
"cds_start": 256,
"cds_end": null,
"cds_length": 4800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891266.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.256C>G",
"hgvs_p": "p.Gln86Glu",
"transcript": "ENST00000891267.1",
"protein_id": "ENSP00000561326.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 1599,
"cds_start": 256,
"cds_end": null,
"cds_length": 4800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891267.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.256C>G",
"hgvs_p": "p.Gln86Glu",
"transcript": "ENST00000891269.1",
"protein_id": "ENSP00000561328.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 1599,
"cds_start": 256,
"cds_end": null,
"cds_length": 4800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891269.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.256C>G",
"hgvs_p": "p.Gln86Glu",
"transcript": "ENST00000891270.1",
"protein_id": "ENSP00000561329.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 1599,
"cds_start": 256,
"cds_end": null,
"cds_length": 4800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891270.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.256C>G",
"hgvs_p": "p.Gln86Glu",
"transcript": "ENST00000891271.1",
"protein_id": "ENSP00000561330.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 1599,
"cds_start": 256,
"cds_end": null,
"cds_length": 4800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891271.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.256C>G",
"hgvs_p": "p.Gln86Glu",
"transcript": "ENST00000891268.1",
"protein_id": "ENSP00000561327.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 1598,
"cds_start": 256,
"cds_end": null,
"cds_length": 4797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891268.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.256C>G",
"hgvs_p": "p.Gln86Glu",
"transcript": "ENST00000915015.1",
"protein_id": "ENSP00000585074.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 1598,
"cds_start": 256,
"cds_end": null,
"cds_length": 4797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915015.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.256C>G",
"hgvs_p": "p.Gln86Glu",
"transcript": "ENST00000915017.1",
"protein_id": "ENSP00000585076.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 1598,
"cds_start": 256,
"cds_end": null,
"cds_length": 4797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915017.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.256C>G",
"hgvs_p": "p.Gln86Glu",
"transcript": "ENST00000947102.1",
"protein_id": "ENSP00000617161.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 1598,
"cds_start": 256,
"cds_end": null,
"cds_length": 4797,
"cdna_start": null,
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"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426123.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.-52+2755C>G",
"hgvs_p": null,
"transcript": "ENST00000444134.5",
"protein_id": "ENSP00000407244.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 126,
"cds_start": null,
"cds_end": null,
"cds_length": 382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444134.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "n.147+1211C>G",
"hgvs_p": null,
"transcript": "ENST00000413967.5",
"protein_id": "ENSP00000390755.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000413967.5"
}
],
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.40266260504722595,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.201,
"revel_prediction": "Benign",
"alphamissense_score": 0.4644,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.012,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001194946.2",
"gene_symbol": "EIF4G1",
"hgnc_id": 3296,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.277C>G",
"hgvs_p": "p.Gln93Glu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}