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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: 8-108228329-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=108228329&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 108228329,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001568.3",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3E",
"gene_hgnc_id": 3277,
"hgvs_c": "c.660T>G",
"hgvs_p": "p.Phe220Leu",
"transcript": "NM_001568.3",
"protein_id": "NP_001559.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 445,
"cds_start": 660,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000220849.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001568.3"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3E",
"gene_hgnc_id": 3277,
"hgvs_c": "c.660T>G",
"hgvs_p": "p.Phe220Leu",
"transcript": "ENST00000220849.10",
"protein_id": "ENSP00000220849.5",
"transcript_support_level": 1,
"aa_start": 220,
"aa_end": null,
"aa_length": 445,
"cds_start": 660,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001568.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000220849.10"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3E",
"gene_hgnc_id": 3277,
"hgvs_c": "c.660T>G",
"hgvs_p": "p.Phe220Leu",
"transcript": "ENST00000678042.1",
"protein_id": "ENSP00000503596.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 507,
"cds_start": 660,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678042.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3E",
"gene_hgnc_id": 3277,
"hgvs_c": "c.660T>G",
"hgvs_p": "p.Phe220Leu",
"transcript": "ENST00000677674.1",
"protein_id": "ENSP00000503434.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 472,
"cds_start": 660,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677674.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3E",
"gene_hgnc_id": 3277,
"hgvs_c": "c.690T>G",
"hgvs_p": "p.Phe230Leu",
"transcript": "ENST00000677614.1",
"protein_id": "ENSP00000504788.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 455,
"cds_start": 690,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677614.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3E",
"gene_hgnc_id": 3277,
"hgvs_c": "c.690T>G",
"hgvs_p": "p.Phe230Leu",
"transcript": "ENST00000678023.1",
"protein_id": "ENSP00000502937.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 455,
"cds_start": 690,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678023.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3E",
"gene_hgnc_id": 3277,
"hgvs_c": "c.690T>G",
"hgvs_p": "p.Phe230Leu",
"transcript": "ENST00000678334.1",
"protein_id": "ENSP00000503856.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 455,
"cds_start": 690,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678334.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3E",
"gene_hgnc_id": 3277,
"hgvs_c": "c.690T>G",
"hgvs_p": "p.Phe230Leu",
"transcript": "ENST00000678797.1",
"protein_id": "ENSP00000504851.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 455,
"cds_start": 690,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678797.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3E",
"gene_hgnc_id": 3277,
"hgvs_c": "c.660T>G",
"hgvs_p": "p.Phe220Leu",
"transcript": "ENST00000678901.1",
"protein_id": "ENSP00000502918.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 452,
"cds_start": 660,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678901.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3E",
"gene_hgnc_id": 3277,
"hgvs_c": "c.660T>G",
"hgvs_p": "p.Phe220Leu",
"transcript": "ENST00000676698.1",
"protein_id": "ENSP00000503133.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 446,
"cds_start": 660,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676698.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3E",
"gene_hgnc_id": 3277,
"hgvs_c": "c.573T>G",
"hgvs_p": "p.Phe191Leu",
"transcript": "ENST00000677272.1",
"protein_id": "ENSP00000504529.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 416,
"cds_start": 573,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677272.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3E",
"gene_hgnc_id": 3277,
"hgvs_c": "c.513T>G",
"hgvs_p": "p.Phe171Leu",
"transcript": "ENST00000518345.2",
"protein_id": "ENSP00000430678.2",
"transcript_support_level": 3,
"aa_start": 171,
"aa_end": null,
"aa_length": 396,
"cds_start": 513,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518345.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3E",
"gene_hgnc_id": 3277,
"hgvs_c": "c.513T>G",
"hgvs_p": "p.Phe171Leu",
"transcript": "ENST00000677040.1",
"protein_id": "ENSP00000504521.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 396,
"cds_start": 513,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677040.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3E",
"gene_hgnc_id": 3277,
"hgvs_c": "c.513T>G",
"hgvs_p": "p.Phe171Leu",
"transcript": "ENST00000677409.1",
"protein_id": "ENSP00000504815.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 396,
"cds_start": 513,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677409.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3E",
"gene_hgnc_id": 3277,
"hgvs_c": "c.513T>G",
"hgvs_p": "p.Phe171Leu",
"transcript": "ENST00000678881.1",
"protein_id": "ENSP00000504404.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 396,
"cds_start": 513,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678881.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3E",
"gene_hgnc_id": 3277,
"hgvs_c": "c.381T>G",
"hgvs_p": "p.Phe127Leu",
"transcript": "ENST00000519030.6",
"protein_id": "ENSP00000428796.1",
"transcript_support_level": 5,
"aa_start": 127,
"aa_end": null,
"aa_length": 352,
"cds_start": 381,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519030.6"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3E",
"gene_hgnc_id": 3277,
"hgvs_c": "c.381T>G",
"hgvs_p": "p.Phe127Leu",
"transcript": "ENST00000676663.1",
"protein_id": "ENSP00000504047.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 352,
"cds_start": 381,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676663.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3E",
"gene_hgnc_id": 3277,
"hgvs_c": "c.381T>G",
"hgvs_p": "p.Phe127Leu",
"transcript": "ENST00000677084.1",
"protein_id": "ENSP00000504517.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 352,
"cds_start": 381,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677084.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3E",
"gene_hgnc_id": 3277,
"hgvs_c": "c.381T>G",
"hgvs_p": "p.Phe127Leu",
"transcript": "ENST00000678937.1",
"protein_id": "ENSP00000503965.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 352,
"cds_start": 381,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678937.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3E",
"gene_hgnc_id": 3277,
"hgvs_c": "c.381T>G",
"hgvs_p": "p.Phe127Leu",
"transcript": "ENST00000679198.1",
"protein_id": "ENSP00000503334.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 352,
"cds_start": 381,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679198.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3E",
"gene_hgnc_id": 3277,
"hgvs_c": "c.660T>G",
"hgvs_p": "p.Phe220Leu",
"transcript": "ENST00000678243.1",
"protein_id": "ENSP00000503845.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 339,
"cds_start": 660,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678243.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3E",
"gene_hgnc_id": 3277,
"hgvs_c": "c.327T>G",
"hgvs_p": "p.Phe109Leu",
"transcript": "ENST00000678773.1",
"protein_id": "ENSP00000504386.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 334,
"cds_start": 327,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"exon_rank": 8,
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"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "EIF3E",
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"hgvs_c": "n.*196T>G",
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"transcript": "ENST00000676642.1",
"protein_id": "ENSP00000503038.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000676642.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
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"exon_count": 13,
"intron_rank": null,
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"gene_symbol": "EIF3E",
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"hgvs_c": "n.*289T>G",
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"transcript": "ENST00000676706.1",
"protein_id": "ENSP00000503667.1",
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"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": "ENST00000676706.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3E",
"gene_hgnc_id": 3277,
"hgvs_c": "n.*275T>G",
"hgvs_p": null,
"transcript": "ENST00000678004.1",
"protein_id": "ENSP00000503071.1",
"transcript_support_level": null,
"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": "ENST00000678004.1"
}
],
"gene_symbol": "EIF3E",
"gene_hgnc_id": 3277,
"dbsnp": "rs1815556463",
"frequency_reference_population": 6.8628714e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.86287e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7729116678237915,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.284,
"revel_prediction": "Benign",
"alphamissense_score": 0.9992,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.946,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001568.3",
"gene_symbol": "EIF3E",
"hgnc_id": 3277,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.660T>G",
"hgvs_p": "p.Phe220Leu"
}
],
"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
}