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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: 11-77336115-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=77336115&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 77336115,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001128620.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1384C>T",
"hgvs_p": "p.Pro462Ser",
"transcript": "NM_002576.5",
"protein_id": "NP_002567.3",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 545,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356341.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002576.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1384C>T",
"hgvs_p": "p.Pro462Ser",
"transcript": "ENST00000356341.8",
"protein_id": "ENSP00000348696.4",
"transcript_support_level": 1,
"aa_start": 462,
"aa_end": null,
"aa_length": 545,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002576.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356341.8"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1384C>T",
"hgvs_p": "p.Pro462Ser",
"transcript": "NM_001128620.2",
"protein_id": "NP_001122092.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 553,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128620.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1384C>T",
"hgvs_p": "p.Pro462Ser",
"transcript": "NM_001376268.1",
"protein_id": "NP_001363197.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 553,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376268.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1384C>T",
"hgvs_p": "p.Pro462Ser",
"transcript": "NM_001376269.1",
"protein_id": "NP_001363198.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 553,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376269.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1384C>T",
"hgvs_p": "p.Pro462Ser",
"transcript": "NM_001376270.1",
"protein_id": "NP_001363199.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 553,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376270.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1384C>T",
"hgvs_p": "p.Pro462Ser",
"transcript": "NM_001376271.1",
"protein_id": "NP_001363200.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 553,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376271.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1384C>T",
"hgvs_p": "p.Pro462Ser",
"transcript": "ENST00000278568.8",
"protein_id": "ENSP00000278568.4",
"transcript_support_level": 2,
"aa_start": 462,
"aa_end": null,
"aa_length": 553,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000278568.8"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1405C>T",
"hgvs_p": "p.Pro469Ser",
"transcript": "NM_001376272.1",
"protein_id": "NP_001363201.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 552,
"cds_start": 1405,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376272.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1384C>T",
"hgvs_p": "p.Pro462Ser",
"transcript": "NM_001376273.1",
"protein_id": "NP_001363202.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 545,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376273.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1384C>T",
"hgvs_p": "p.Pro462Ser",
"transcript": "NM_001376274.1",
"protein_id": "NP_001363203.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 545,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376274.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1384C>T",
"hgvs_p": "p.Pro462Ser",
"transcript": "NM_001376275.1",
"protein_id": "NP_001363204.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 545,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376275.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1384C>T",
"hgvs_p": "p.Pro462Ser",
"transcript": "NM_001376276.1",
"protein_id": "NP_001363205.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 545,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376276.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1384C>T",
"hgvs_p": "p.Pro462Ser",
"transcript": "NM_001376277.1",
"protein_id": "NP_001363206.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 545,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376277.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1384C>T",
"hgvs_p": "p.Pro462Ser",
"transcript": "NM_001376278.1",
"protein_id": "NP_001363207.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 545,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376278.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1384C>T",
"hgvs_p": "p.Pro462Ser",
"transcript": "NM_001376279.1",
"protein_id": "NP_001363208.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 545,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376279.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1384C>T",
"hgvs_p": "p.Pro462Ser",
"transcript": "NM_001376280.1",
"protein_id": "NP_001363209.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 545,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376280.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1384C>T",
"hgvs_p": "p.Pro462Ser",
"transcript": "NM_001376281.1",
"protein_id": "NP_001363210.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 545,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376281.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1384C>T",
"hgvs_p": "p.Pro462Ser",
"transcript": "NM_001376282.1",
"protein_id": "NP_001363211.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 545,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376282.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1384C>T",
"hgvs_p": "p.Pro462Ser",
"transcript": "NM_001376283.1",
"protein_id": "NP_001363212.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 545,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376283.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1384C>T",
"hgvs_p": "p.Pro462Ser",
"transcript": "NM_001376284.1",
"protein_id": "NP_001363213.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 545,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376284.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1384C>T",
"hgvs_p": "p.Pro462Ser",
"transcript": "NM_001376285.1",
"protein_id": "NP_001363214.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 545,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376285.1"
},
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"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "n.*227C>T",
"hgvs_p": null,
"transcript": "ENST00000527457.5",
"protein_id": "ENSP00000431906.1",
"transcript_support_level": 3,
"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": "ENST00000527457.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "n.*480C>T",
"hgvs_p": null,
"transcript": "ENST00000527535.5",
"protein_id": "ENSP00000437261.1",
"transcript_support_level": 5,
"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": "ENST00000527535.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "n.*139C>T",
"hgvs_p": null,
"transcript": "ENST00000532711.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "retained_intron",
"feature": "ENST00000532711.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "n.*1C>T",
"hgvs_p": null,
"transcript": "ENST00000532991.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "retained_intron",
"feature": "ENST00000532991.5"
}
],
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"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": 0.8613893985748291,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.633,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9998,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.602,
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001128620.2",
"gene_symbol": "PAK1",
"hgnc_id": 8590,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1384C>T",
"hgvs_p": "p.Pro462Ser"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}