← 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: 19-39169614-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=39169614&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 39169614,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000360442.8",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK4",
"gene_hgnc_id": 16059,
"hgvs_c": "c.61G>C",
"hgvs_p": "p.Val21Leu",
"transcript": "NM_005884.5",
"protein_id": "NP_005875.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 591,
"cds_start": 61,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 290,
"cdna_end": null,
"cdna_length": 2830,
"mane_select": "ENST00000360442.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK4",
"gene_hgnc_id": 16059,
"hgvs_c": "c.61G>C",
"hgvs_p": "p.Val21Leu",
"transcript": "ENST00000360442.8",
"protein_id": "ENSP00000353625.3",
"transcript_support_level": 5,
"aa_start": 21,
"aa_end": null,
"aa_length": 591,
"cds_start": 61,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 290,
"cdna_end": null,
"cdna_length": 2830,
"mane_select": "NM_005884.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK4",
"gene_hgnc_id": 16059,
"hgvs_c": "c.61G>C",
"hgvs_p": "p.Val21Leu",
"transcript": "ENST00000358301.7",
"protein_id": "ENSP00000351049.2",
"transcript_support_level": 1,
"aa_start": 21,
"aa_end": null,
"aa_length": 591,
"cds_start": 61,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 201,
"cdna_end": null,
"cdna_length": 2739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK4",
"gene_hgnc_id": 16059,
"hgvs_c": "c.61G>C",
"hgvs_p": "p.Val21Leu",
"transcript": "ENST00000593690.5",
"protein_id": "ENSP00000469413.1",
"transcript_support_level": 1,
"aa_start": 21,
"aa_end": null,
"aa_length": 591,
"cds_start": 61,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 488,
"cdna_end": null,
"cdna_length": 3025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK4",
"gene_hgnc_id": 16059,
"hgvs_c": "c.61G>C",
"hgvs_p": "p.Val21Leu",
"transcript": "ENST00000321944.8",
"protein_id": "ENSP00000326864.4",
"transcript_support_level": 1,
"aa_start": 21,
"aa_end": null,
"aa_length": 501,
"cds_start": 61,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 288,
"cdna_end": null,
"cdna_length": 2555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK4",
"gene_hgnc_id": 16059,
"hgvs_c": "c.61G>C",
"hgvs_p": "p.Val21Leu",
"transcript": "ENST00000599386.5",
"protein_id": "ENSP00000471157.1",
"transcript_support_level": 1,
"aa_start": 21,
"aa_end": null,
"aa_length": 438,
"cds_start": 61,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 242,
"cdna_end": null,
"cdna_length": 5735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK4",
"gene_hgnc_id": 16059,
"hgvs_c": "c.61G>C",
"hgvs_p": "p.Val21Leu",
"transcript": "ENST00000599470.5",
"protein_id": "ENSP00000470284.1",
"transcript_support_level": 1,
"aa_start": 21,
"aa_end": null,
"aa_length": 438,
"cds_start": 61,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 221,
"cdna_end": null,
"cdna_length": 1715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK4",
"gene_hgnc_id": 16059,
"hgvs_c": "c.61G>C",
"hgvs_p": "p.Val21Leu",
"transcript": "NM_001014831.3",
"protein_id": "NP_001014831.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 591,
"cds_start": 61,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 516,
"cdna_end": null,
"cdna_length": 6468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK4",
"gene_hgnc_id": 16059,
"hgvs_c": "c.61G>C",
"hgvs_p": "p.Val21Leu",
"transcript": "NM_001014832.2",
"protein_id": "NP_001014832.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 591,
"cds_start": 61,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 217,
"cdna_end": null,
"cdna_length": 6169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK4",
"gene_hgnc_id": 16059,
"hgvs_c": "c.61G>C",
"hgvs_p": "p.Val21Leu",
"transcript": "NM_001394501.1",
"protein_id": "NP_001381430.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 591,
"cds_start": 61,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 236,
"cdna_end": null,
"cdna_length": 2776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK4",
"gene_hgnc_id": 16059,
"hgvs_c": "c.61G>C",
"hgvs_p": "p.Val21Leu",
"transcript": "NM_001014834.3",
"protein_id": "NP_001014834.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 438,
"cds_start": 61,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 217,
"cdna_end": null,
"cdna_length": 5710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK4",
"gene_hgnc_id": 16059,
"hgvs_c": "c.61G>C",
"hgvs_p": "p.Val21Leu",
"transcript": "NM_001014835.2",
"protein_id": "NP_001014835.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 438,
"cds_start": 61,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 290,
"cdna_end": null,
"cdna_length": 5783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK4",
"gene_hgnc_id": 16059,
"hgvs_c": "c.61G>C",
"hgvs_p": "p.Val21Leu",
"transcript": "ENST00000602004.1",
"protein_id": "ENSP00000471318.2",
"transcript_support_level": 4,
"aa_start": 21,
"aa_end": null,
"aa_length": 143,
"cds_start": 61,
"cds_end": null,
"cds_length": 432,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK4",
"gene_hgnc_id": 16059,
"hgvs_c": "c.61G>C",
"hgvs_p": "p.Val21Leu",
"transcript": "ENST00000593480.5",
"protein_id": "ENSP00000472862.1",
"transcript_support_level": 3,
"aa_start": 21,
"aa_end": null,
"aa_length": 130,
"cds_start": 61,
"cds_end": null,
"cds_length": 394,
"cdna_start": 381,
"cdna_end": null,
"cdna_length": 714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK4",
"gene_hgnc_id": 16059,
"hgvs_c": "c.61G>C",
"hgvs_p": "p.Val21Leu",
"transcript": "ENST00000599657.5",
"protein_id": "ENSP00000473215.1",
"transcript_support_level": 4,
"aa_start": 21,
"aa_end": null,
"aa_length": 92,
"cds_start": 61,
"cds_end": null,
"cds_length": 280,
"cdna_start": 315,
"cdna_end": null,
"cdna_length": 534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK4",
"gene_hgnc_id": 16059,
"hgvs_c": "c.61G>C",
"hgvs_p": "p.Val21Leu",
"transcript": "XM_011526316.2",
"protein_id": "XP_011524618.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 591,
"cds_start": 61,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 300,
"cdna_end": null,
"cdna_length": 6252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK4",
"gene_hgnc_id": 16059,
"hgvs_c": "c.61G>C",
"hgvs_p": "p.Val21Leu",
"transcript": "XM_011526317.3",
"protein_id": "XP_011524619.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 591,
"cds_start": 61,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 358,
"cdna_end": null,
"cdna_length": 6310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK4",
"gene_hgnc_id": 16059,
"hgvs_c": "c.61G>C",
"hgvs_p": "p.Val21Leu",
"transcript": "XM_047438034.1",
"protein_id": "XP_047293990.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 591,
"cds_start": 61,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 368,
"cdna_end": null,
"cdna_length": 6320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK4",
"gene_hgnc_id": 16059,
"hgvs_c": "c.61G>C",
"hgvs_p": "p.Val21Leu",
"transcript": "XM_047438035.1",
"protein_id": "XP_047293991.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 591,
"cds_start": 61,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 384,
"cdna_end": null,
"cdna_length": 6336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK4",
"gene_hgnc_id": 16059,
"hgvs_c": "c.61G>C",
"hgvs_p": "p.Val21Leu",
"transcript": "XM_047438036.1",
"protein_id": "XP_047293992.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 591,
"cds_start": 61,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 246,
"cdna_end": null,
"cdna_length": 6198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK4",
"gene_hgnc_id": 16059,
"hgvs_c": "c.61G>C",
"hgvs_p": "p.Val21Leu",
"transcript": "XM_047438037.1",
"protein_id": "XP_047293993.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 591,
"cds_start": 61,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 6410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK4",
"gene_hgnc_id": 16059,
"hgvs_c": "c.61G>C",
"hgvs_p": "p.Val21Leu",
"transcript": "XM_047438038.1",
"protein_id": "XP_047293994.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 591,
"cds_start": 61,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 330,
"cdna_end": null,
"cdna_length": 6282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK4",
"gene_hgnc_id": 16059,
"hgvs_c": "c.61G>C",
"hgvs_p": "p.Val21Leu",
"transcript": "XM_011526320.2",
"protein_id": "XP_011524622.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 438,
"cds_start": 61,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 300,
"cdna_end": null,
"cdna_length": 5793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK4",
"gene_hgnc_id": 16059,
"hgvs_c": "c.61G>C",
"hgvs_p": "p.Val21Leu",
"transcript": "XM_024451314.2",
"protein_id": "XP_024307082.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 438,
"cds_start": 61,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 368,
"cdna_end": null,
"cdna_length": 5861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK4",
"gene_hgnc_id": 16059,
"hgvs_c": "c.61G>C",
"hgvs_p": "p.Val21Leu",
"transcript": "XM_047438040.1",
"protein_id": "XP_047293996.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 438,
"cds_start": 61,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 358,
"cdna_end": null,
"cdna_length": 5851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK4",
"gene_hgnc_id": 16059,
"hgvs_c": "c.61G>C",
"hgvs_p": "p.Val21Leu",
"transcript": "XM_047438041.1",
"protein_id": "XP_047293997.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 438,
"cds_start": 61,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 5876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PAK4",
"gene_hgnc_id": 16059,
"dbsnp": "rs146583353",
"frequency_reference_population": 0.0000020525479,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205255,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8180140256881714,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.734,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9245,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.855,
"phylop100way_prediction": "Pathogenic",
"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": 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": "ENST00000360442.8",
"gene_symbol": "PAK4",
"hgnc_id": 16059,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.61G>C",
"hgvs_p": "p.Val21Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}