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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: 4-153704643-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=153704643&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 153704643,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_003264.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR2",
"gene_hgnc_id": 11848,
"hgvs_c": "c.1736G>A",
"hgvs_p": "p.Arg579His",
"transcript": "NM_001318789.2",
"protein_id": "NP_001305718.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 784,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000642700.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318789.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR2",
"gene_hgnc_id": 11848,
"hgvs_c": "c.1736G>A",
"hgvs_p": "p.Arg579His",
"transcript": "ENST00000642700.2",
"protein_id": "ENSP00000494425.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 784,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001318789.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642700.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR2",
"gene_hgnc_id": 11848,
"hgvs_c": "c.1736G>A",
"hgvs_p": "p.Arg579His",
"transcript": "NM_001318787.2",
"protein_id": "NP_001305716.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 784,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318787.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR2",
"gene_hgnc_id": 11848,
"hgvs_c": "c.1736G>A",
"hgvs_p": "p.Arg579His",
"transcript": "NM_001318790.2",
"protein_id": "NP_001305719.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 784,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318790.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR2",
"gene_hgnc_id": 11848,
"hgvs_c": "c.1736G>A",
"hgvs_p": "p.Arg579His",
"transcript": "NM_001318791.2",
"protein_id": "NP_001305720.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 784,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318791.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR2",
"gene_hgnc_id": 11848,
"hgvs_c": "c.1736G>A",
"hgvs_p": "p.Arg579His",
"transcript": "NM_001318793.2",
"protein_id": "NP_001305722.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 784,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318793.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR2",
"gene_hgnc_id": 11848,
"hgvs_c": "c.1736G>A",
"hgvs_p": "p.Arg579His",
"transcript": "NM_001318795.2",
"protein_id": "NP_001305724.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 784,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318795.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR2",
"gene_hgnc_id": 11848,
"hgvs_c": "c.1736G>A",
"hgvs_p": "p.Arg579His",
"transcript": "NM_001318796.2",
"protein_id": "NP_001305725.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 784,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318796.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR2",
"gene_hgnc_id": 11848,
"hgvs_c": "c.1736G>A",
"hgvs_p": "p.Arg579His",
"transcript": "NM_003264.5",
"protein_id": "NP_003255.2",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 784,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003264.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR2",
"gene_hgnc_id": 11848,
"hgvs_c": "c.1736G>A",
"hgvs_p": "p.Arg579His",
"transcript": "ENST00000260010.7",
"protein_id": "ENSP00000260010.6",
"transcript_support_level": 6,
"aa_start": 579,
"aa_end": null,
"aa_length": 784,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000260010.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR2",
"gene_hgnc_id": 11848,
"hgvs_c": "c.1736G>A",
"hgvs_p": "p.Arg579His",
"transcript": "ENST00000642580.1",
"protein_id": "ENSP00000495339.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 784,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642580.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR2",
"gene_hgnc_id": 11848,
"hgvs_c": "c.1736G>A",
"hgvs_p": "p.Arg579His",
"transcript": "ENST00000643501.2",
"protein_id": "ENSP00000496208.2",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 784,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643501.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR2",
"gene_hgnc_id": 11848,
"hgvs_c": "c.1736G>A",
"hgvs_p": "p.Arg579His",
"transcript": "ENST00000646219.2",
"protein_id": "ENSP00000496676.2",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 784,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646219.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR2",
"gene_hgnc_id": 11848,
"hgvs_c": "c.1736G>A",
"hgvs_p": "p.Arg579His",
"transcript": "ENST00000646900.2",
"protein_id": "ENSP00000493968.2",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 784,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646900.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR2",
"gene_hgnc_id": 11848,
"hgvs_c": "c.1736G>A",
"hgvs_p": "p.Arg579His",
"transcript": "ENST00000714431.1",
"protein_id": "ENSP00000519700.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 784,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714431.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR2",
"gene_hgnc_id": 11848,
"hgvs_c": "c.1736G>A",
"hgvs_p": "p.Arg579His",
"transcript": "ENST00000714432.1",
"protein_id": "ENSP00000519701.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 784,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714432.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR2",
"gene_hgnc_id": 11848,
"hgvs_c": "c.1736G>A",
"hgvs_p": "p.Arg579His",
"transcript": "ENST00000714433.1",
"protein_id": "ENSP00000519702.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 784,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714433.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR2",
"gene_hgnc_id": 11848,
"hgvs_c": "c.1736G>A",
"hgvs_p": "p.Arg579His",
"transcript": "ENST00000714434.1",
"protein_id": "ENSP00000519703.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 784,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714434.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR2",
"gene_hgnc_id": 11848,
"hgvs_c": "c.1736G>A",
"hgvs_p": "p.Arg579His",
"transcript": "ENST00000714435.1",
"protein_id": "ENSP00000519704.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 784,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714435.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR2",
"gene_hgnc_id": 11848,
"hgvs_c": "c.1736G>A",
"hgvs_p": "p.Arg579His",
"transcript": "ENST00000855786.1",
"protein_id": "ENSP00000525845.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 784,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855786.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR2",
"gene_hgnc_id": 11848,
"hgvs_c": "c.1736G>A",
"hgvs_p": "p.Arg579His",
"transcript": "ENST00000855787.1",
"protein_id": "ENSP00000525846.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 784,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855787.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR2",
"gene_hgnc_id": 11848,
"hgvs_c": "c.1736G>A",
"hgvs_p": "p.Arg579His",
"transcript": "ENST00000855788.1",
"protein_id": "ENSP00000525847.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 784,
"cds_start": 1736,
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"transcript": "XM_047416114.1",
"protein_id": "XP_047272070.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 784,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416114.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TLR2",
"gene_hgnc_id": 11848,
"hgvs_c": "c.222-208G>A",
"hgvs_p": null,
"transcript": "ENST00000643087.1",
"protein_id": "ENSP00000494668.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 209,
"cds_start": null,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643087.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TLR2",
"gene_hgnc_id": 11848,
"hgvs_c": "c.598-208G>A",
"hgvs_p": null,
"transcript": "ENST00000714436.1",
"protein_id": "ENSP00000519705.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 199,
"cds_start": null,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714436.1"
}
],
"gene_symbol": "TLR2",
"gene_hgnc_id": 11848,
"dbsnp": "rs5743703",
"frequency_reference_population": 0.00049774005,
"hom_count_reference_population": 2,
"allele_count_reference_population": 803,
"gnomad_exomes_af": 0.000272359,
"gnomad_genomes_af": 0.00266475,
"gnomad_exomes_ac": 398,
"gnomad_genomes_ac": 405,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004875510931015015,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.025,
"revel_prediction": "Benign",
"alphamissense_score": 0.0596,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.78,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.224,
"phylop100way_prediction": "Benign",
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_003264.5",
"gene_symbol": "TLR2",
"hgnc_id": 11848,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1736G>A",
"hgvs_p": "p.Arg579His"
}
],
"clinvar_disease": "TLR2-related disorder,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided|TLR2-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}