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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: 12-43774004-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=43774004&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 43774004,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_016123.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK4",
"gene_hgnc_id": 17967,
"hgvs_c": "c.691G>T",
"hgvs_p": "p.Asp231Tyr",
"transcript": "NM_016123.4",
"protein_id": "NP_057207.2",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 460,
"cds_start": 691,
"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": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK4",
"gene_hgnc_id": 17967,
"hgvs_c": "c.691G>T",
"hgvs_p": "p.Asp231Tyr",
"transcript": "ENST00000613694.5",
"protein_id": "ENSP00000479889.3",
"transcript_support_level": 1,
"aa_start": 231,
"aa_end": null,
"aa_length": 460,
"cds_start": 691,
"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": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK4",
"gene_hgnc_id": 17967,
"hgvs_c": "c.691G>T",
"hgvs_p": "p.Asp231Tyr",
"transcript": "ENST00000551736.5",
"protein_id": "ENSP00000446490.1",
"transcript_support_level": 1,
"aa_start": 231,
"aa_end": null,
"aa_length": 460,
"cds_start": 691,
"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": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK4",
"gene_hgnc_id": 17967,
"hgvs_c": "n.*593G>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": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK4",
"gene_hgnc_id": 17967,
"hgvs_c": "n.*362G>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": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK4",
"gene_hgnc_id": 17967,
"hgvs_c": "n.*593G>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": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK4",
"gene_hgnc_id": 17967,
"hgvs_c": "n.*362G>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": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK4",
"gene_hgnc_id": 17967,
"hgvs_c": "c.691G>T",
"hgvs_p": "p.Asp231Tyr",
"transcript": "NM_001114182.3",
"protein_id": "NP_001107654.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 460,
"cds_start": 691,
"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": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK4",
"gene_hgnc_id": 17967,
"hgvs_c": "c.691G>T",
"hgvs_p": "p.Asp231Tyr",
"transcript": "NM_001351345.2",
"protein_id": "NP_001338274.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 460,
"cds_start": 691,
"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": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK4",
"gene_hgnc_id": 17967,
"hgvs_c": "c.691G>T",
"hgvs_p": "p.Asp231Tyr",
"transcript": "ENST00000851160.1",
"protein_id": "ENSP00000521219.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 460,
"cds_start": 691,
"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": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK4",
"gene_hgnc_id": 17967,
"hgvs_c": "c.691G>T",
"hgvs_p": "p.Asp231Tyr",
"transcript": "ENST00000851161.1",
"protein_id": "ENSP00000521220.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 460,
"cds_start": 691,
"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": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK4",
"gene_hgnc_id": 17967,
"hgvs_c": "c.691G>T",
"hgvs_p": "p.Asp231Tyr",
"transcript": "ENST00000851162.1",
"protein_id": "ENSP00000521221.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 460,
"cds_start": 691,
"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": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK4",
"gene_hgnc_id": 17967,
"hgvs_c": "c.691G>T",
"hgvs_p": "p.Asp231Tyr",
"transcript": "ENST00000937192.1",
"protein_id": "ENSP00000607251.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 460,
"cds_start": 691,
"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": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK4",
"gene_hgnc_id": 17967,
"hgvs_c": "c.517G>T",
"hgvs_p": "p.Asp173Tyr",
"transcript": "ENST00000851163.1",
"protein_id": "ENSP00000521222.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 402,
"cds_start": 517,
"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": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK4",
"gene_hgnc_id": 17967,
"hgvs_c": "c.319G>T",
"hgvs_p": "p.Asp107Tyr",
"transcript": "NM_001145256.2",
"protein_id": "NP_001138728.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 336,
"cds_start": 319,
"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": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK4",
"gene_hgnc_id": 17967,
"hgvs_c": "c.319G>T",
"hgvs_p": "p.Asp107Tyr",
"transcript": "NM_001145257.2",
"protein_id": "NP_001138729.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 336,
"cds_start": 319,
"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": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK4",
"gene_hgnc_id": 17967,
"hgvs_c": "c.319G>T",
"hgvs_p": "p.Asp107Tyr",
"transcript": "NM_001145258.2",
"protein_id": "NP_001138730.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 336,
"cds_start": 319,
"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": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK4",
"gene_hgnc_id": 17967,
"hgvs_c": "c.319G>T",
"hgvs_p": "p.Asp107Tyr",
"transcript": "NM_001351338.2",
"protein_id": "NP_001338267.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 336,
"cds_start": 319,
"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": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK4",
"gene_hgnc_id": 17967,
"hgvs_c": "c.319G>T",
"hgvs_p": "p.Asp107Tyr",
"transcript": "NM_001351339.2",
"protein_id": "NP_001338268.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 336,
"cds_start": 319,
"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": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK4",
"gene_hgnc_id": 17967,
"hgvs_c": "c.319G>T",
"hgvs_p": "p.Asp107Tyr",
"transcript": "NM_001351340.2",
"protein_id": "NP_001338269.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 336,
"cds_start": 319,
"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": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK4",
"gene_hgnc_id": 17967,
"hgvs_c": "c.319G>T",
"hgvs_p": "p.Asp107Tyr",
"transcript": "NM_001351341.2",
"protein_id": "NP_001338270.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 336,
"cds_start": 319,
"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": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK4",
"gene_hgnc_id": 17967,
"hgvs_c": "c.319G>T",
"hgvs_p": "p.Asp107Tyr",
"transcript": "NM_001351342.2",
"protein_id": "NP_001338271.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 336,
"cds_start": 319,
"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"
},
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{
"aa_ref": null,
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"canonical": false,
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"strand": true,
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"3_prime_UTR_variant"
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"gene_symbol": "IRAK4",
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"transcript": "ENST00000696795.1",
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"biotype": "nonsense_mediated_decay",
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
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"exon_rank": 5,
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"exon_count": 11,
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"gene_symbol": "IRAK4",
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"transcript": "ENST00000696796.1",
"protein_id": "ENSP00000512877.1",
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"aa_length": null,
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"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"
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],
"gene_symbol": "IRAK4",
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"dbsnp": "rs111935971",
"frequency_reference_population": 0.0000012417717,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.85652e-7,
"gnomad_genomes_af": 0.00000657307,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.402934730052948,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.182,
"revel_prediction": "Benign",
"alphamissense_score": 0.129,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.437,
"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_016123.4",
"gene_symbol": "IRAK4",
"hgnc_id": 17967,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.691G>T",
"hgvs_p": "p.Asp231Tyr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}