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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: 12-43778238-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=43778238&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 43778238,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_016123.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK4",
"gene_hgnc_id": 17967,
"hgvs_c": "c.877C>T",
"hgvs_p": "p.Gln293*",
"transcript": "NM_016123.4",
"protein_id": "NP_057207.2",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 460,
"cds_start": 877,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000613694.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016123.4"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK4",
"gene_hgnc_id": 17967,
"hgvs_c": "c.877C>T",
"hgvs_p": "p.Gln293*",
"transcript": "ENST00000613694.5",
"protein_id": "ENSP00000479889.3",
"transcript_support_level": 1,
"aa_start": 293,
"aa_end": null,
"aa_length": 460,
"cds_start": 877,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016123.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613694.5"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK4",
"gene_hgnc_id": 17967,
"hgvs_c": "c.877C>T",
"hgvs_p": "p.Gln293*",
"transcript": "ENST00000551736.5",
"protein_id": "ENSP00000446490.1",
"transcript_support_level": 1,
"aa_start": 293,
"aa_end": null,
"aa_length": 460,
"cds_start": 877,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551736.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK4",
"gene_hgnc_id": 17967,
"hgvs_c": "n.*779C>T",
"hgvs_p": null,
"transcript": "ENST00000547101.5",
"protein_id": "ENSP00000449317.1",
"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": "ENST00000547101.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK4",
"gene_hgnc_id": 17967,
"hgvs_c": "n.*548C>T",
"hgvs_p": null,
"transcript": "ENST00000550615.5",
"protein_id": "ENSP00000449553.1",
"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": "ENST00000550615.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK4",
"gene_hgnc_id": 17967,
"hgvs_c": "n.*779C>T",
"hgvs_p": null,
"transcript": "ENST00000547101.5",
"protein_id": "ENSP00000449317.1",
"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": "ENST00000547101.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK4",
"gene_hgnc_id": 17967,
"hgvs_c": "n.*548C>T",
"hgvs_p": null,
"transcript": "ENST00000550615.5",
"protein_id": "ENSP00000449553.1",
"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": "ENST00000550615.5"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK4",
"gene_hgnc_id": 17967,
"hgvs_c": "c.877C>T",
"hgvs_p": "p.Gln293*",
"transcript": "NM_001114182.3",
"protein_id": "NP_001107654.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 460,
"cds_start": 877,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001114182.3"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK4",
"gene_hgnc_id": 17967,
"hgvs_c": "c.877C>T",
"hgvs_p": "p.Gln293*",
"transcript": "NM_001351345.2",
"protein_id": "NP_001338274.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 460,
"cds_start": 877,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351345.2"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK4",
"gene_hgnc_id": 17967,
"hgvs_c": "c.877C>T",
"hgvs_p": "p.Gln293*",
"transcript": "ENST00000851160.1",
"protein_id": "ENSP00000521219.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 460,
"cds_start": 877,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851160.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK4",
"gene_hgnc_id": 17967,
"hgvs_c": "c.877C>T",
"hgvs_p": "p.Gln293*",
"transcript": "ENST00000851161.1",
"protein_id": "ENSP00000521220.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 460,
"cds_start": 877,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851161.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK4",
"gene_hgnc_id": 17967,
"hgvs_c": "c.877C>T",
"hgvs_p": "p.Gln293*",
"transcript": "ENST00000851162.1",
"protein_id": "ENSP00000521221.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 460,
"cds_start": 877,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851162.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK4",
"gene_hgnc_id": 17967,
"hgvs_c": "c.877C>T",
"hgvs_p": "p.Gln293*",
"transcript": "ENST00000937192.1",
"protein_id": "ENSP00000607251.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 460,
"cds_start": 877,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937192.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK4",
"gene_hgnc_id": 17967,
"hgvs_c": "c.703C>T",
"hgvs_p": "p.Gln235*",
"transcript": "ENST00000851163.1",
"protein_id": "ENSP00000521222.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 402,
"cds_start": 703,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851163.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK4",
"gene_hgnc_id": 17967,
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Gln169*",
"transcript": "NM_001145256.2",
"protein_id": "NP_001138728.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 336,
"cds_start": 505,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145256.2"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK4",
"gene_hgnc_id": 17967,
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Gln169*",
"transcript": "NM_001145257.2",
"protein_id": "NP_001138729.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 336,
"cds_start": 505,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145257.2"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK4",
"gene_hgnc_id": 17967,
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Gln169*",
"transcript": "NM_001145258.2",
"protein_id": "NP_001138730.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 336,
"cds_start": 505,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145258.2"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK4",
"gene_hgnc_id": 17967,
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Gln169*",
"transcript": "NM_001351338.2",
"protein_id": "NP_001338267.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 336,
"cds_start": 505,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351338.2"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK4",
"gene_hgnc_id": 17967,
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Gln169*",
"transcript": "NM_001351339.2",
"protein_id": "NP_001338268.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 336,
"cds_start": 505,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351339.2"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK4",
"gene_hgnc_id": 17967,
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Gln169*",
"transcript": "NM_001351340.2",
"protein_id": "NP_001338269.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 336,
"cds_start": 505,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351340.2"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK4",
"gene_hgnc_id": 17967,
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Gln169*",
"transcript": "NM_001351341.2",
"protein_id": "NP_001338270.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 336,
"cds_start": 505,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351341.2"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK4",
"gene_hgnc_id": 17967,
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Gln169*",
"transcript": "NM_001351342.2",
"protein_id": "NP_001338271.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 336,
"cds_start": 505,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351342.2"
},
{
"aa_ref": "Q",
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"3_prime_UTR_variant"
],
"exon_rank": 9,
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"exon_count": 13,
"intron_rank": null,
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"gene_symbol": "IRAK4",
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"hgvs_c": "n.*779C>T",
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"transcript": "ENST00000696791.1",
"protein_id": "ENSP00000512873.1",
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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": "ENST00000696791.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
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"exon_count": 12,
"intron_rank": null,
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"gene_symbol": "IRAK4",
"gene_hgnc_id": 17967,
"hgvs_c": "n.*548C>T",
"hgvs_p": null,
"transcript": "ENST00000696795.1",
"protein_id": "ENSP00000512876.1",
"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": "ENST00000696795.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "IRAK4",
"gene_hgnc_id": 17967,
"hgvs_c": "n.*522C>T",
"hgvs_p": null,
"transcript": "ENST00000696796.1",
"protein_id": "ENSP00000512877.1",
"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": "ENST00000696796.1"
}
],
"gene_symbol": "IRAK4",
"gene_hgnc_id": 17967,
"dbsnp": "rs121908002",
"frequency_reference_population": 0.00064218225,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1035,
"gnomad_exomes_af": 0.000676216,
"gnomad_genomes_af": 0.000315582,
"gnomad_exomes_ac": 987,
"gnomad_genomes_ac": 48,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6200000047683716,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.15000000596046448,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.62,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.616,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.15,
"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": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PVS1",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_016123.4",
"gene_symbol": "IRAK4",
"hgnc_id": 17967,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.877C>T",
"hgvs_p": "p.Gln293*"
}
],
"clinvar_disease": "IRAK4-related disorder,Immunodeficiency 67,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:7",
"phenotype_combined": "Immunodeficiency 67|not provided|IRAK4-related disorder",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}