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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: 9-127682541-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=127682541&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 127682541,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_003165.6",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.1683A>G",
"hgvs_p": "p.Gly561Gly",
"transcript": "NM_003165.6",
"protein_id": "NP_003156.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 603,
"cds_start": 1683,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "ENST00000373302.8",
"biotype": "protein_coding",
"feature": "NM_003165.6"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.1683A>G",
"hgvs_p": "p.Gly561Gly",
"transcript": "ENST00000373302.8",
"protein_id": "ENSP00000362399.3",
"transcript_support_level": 1,
"aa_start": 561,
"aa_end": null,
"aa_length": 603,
"cds_start": 1683,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "NM_003165.6",
"biotype": "protein_coding",
"feature": "ENST00000373302.8"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.1683A>G",
"hgvs_p": "p.Gly561Gly",
"transcript": "NM_001032221.6",
"protein_id": "NP_001027392.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 594,
"cds_start": 1683,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373299.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001032221.6"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.1683A>G",
"hgvs_p": "p.Gly561Gly",
"transcript": "ENST00000373299.5",
"protein_id": "ENSP00000362396.2",
"transcript_support_level": 1,
"aa_start": 561,
"aa_end": null,
"aa_length": 594,
"cds_start": 1683,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001032221.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373299.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.1683A>G",
"hgvs_p": "p.Gly561Gly",
"transcript": "ENST00000494254.4",
"protein_id": "ENSP00000485397.2",
"transcript_support_level": 5,
"aa_start": 561,
"aa_end": null,
"aa_length": 603,
"cds_start": 1683,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000494254.4"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.1710A>G",
"hgvs_p": "p.Gly570Gly",
"transcript": "ENST00000944186.1",
"protein_id": "ENSP00000614245.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 603,
"cds_start": 1710,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944186.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.1683A>G",
"hgvs_p": "p.Gly561Gly",
"transcript": "ENST00000647107.2",
"protein_id": "ENSP00000494727.2",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 599,
"cds_start": 1683,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647107.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.1683A>G",
"hgvs_p": "p.Gly561Gly",
"transcript": "ENST00000713766.1",
"protein_id": "ENSP00000519067.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 599,
"cds_start": 1683,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713766.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.1674A>G",
"hgvs_p": "p.Gly558Gly",
"transcript": "NM_001374306.2",
"protein_id": "NP_001361235.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 591,
"cds_start": 1674,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374306.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.1674A>G",
"hgvs_p": "p.Gly558Gly",
"transcript": "ENST00000944185.1",
"protein_id": "ENSP00000614244.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 591,
"cds_start": 1674,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944185.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.1641A>G",
"hgvs_p": "p.Gly547Gly",
"transcript": "NM_001374307.2",
"protein_id": "NP_001361236.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 589,
"cds_start": 1641,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374307.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.1641A>G",
"hgvs_p": "p.Gly547Gly",
"transcript": "NM_001374308.2",
"protein_id": "NP_001361237.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 589,
"cds_start": 1641,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374308.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.1641A>G",
"hgvs_p": "p.Gly547Gly",
"transcript": "ENST00000637521.2",
"protein_id": "ENSP00000489791.1",
"transcript_support_level": 5,
"aa_start": 547,
"aa_end": null,
"aa_length": 589,
"cds_start": 1641,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637521.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.1641A>G",
"hgvs_p": "p.Gly547Gly",
"transcript": "ENST00000650920.1",
"protein_id": "ENSP00000498834.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 589,
"cds_start": 1641,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650920.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.1641A>G",
"hgvs_p": "p.Gly547Gly",
"transcript": "NM_001374309.2",
"protein_id": "NP_001361238.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 580,
"cds_start": 1641,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374309.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.1641A>G",
"hgvs_p": "p.Gly547Gly",
"transcript": "NM_001374310.2",
"protein_id": "NP_001361239.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 580,
"cds_start": 1641,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374310.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.1641A>G",
"hgvs_p": "p.Gly547Gly",
"transcript": "NM_001374311.2",
"protein_id": "NP_001361240.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 580,
"cds_start": 1641,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374311.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.1641A>G",
"hgvs_p": "p.Gly547Gly",
"transcript": "NM_001374312.2",
"protein_id": "NP_001361241.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 580,
"cds_start": 1641,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374312.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.1641A>G",
"hgvs_p": "p.Gly547Gly",
"transcript": "ENST00000625363.3",
"protein_id": "ENSP00000486944.2",
"transcript_support_level": 4,
"aa_start": 547,
"aa_end": null,
"aa_length": 580,
"cds_start": 1641,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000625363.3"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.1641A>G",
"hgvs_p": "p.Gly547Gly",
"transcript": "ENST00000626333.2",
"protein_id": "ENSP00000486814.2",
"transcript_support_level": 4,
"aa_start": 547,
"aa_end": null,
"aa_length": 580,
"cds_start": 1641,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000626333.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.1641A>G",
"hgvs_p": "p.Gly547Gly",
"transcript": "ENST00000626539.3",
"protein_id": "ENSP00000487211.2",
"transcript_support_level": 5,
"aa_start": 547,
"aa_end": null,
"aa_length": 580,
"cds_start": 1641,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000626539.3"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.1641A>G",
"hgvs_p": "p.Gly547Gly",
"transcript": "ENST00000627871.3",
"protein_id": "ENSP00000485895.2",
"transcript_support_level": 3,
"aa_start": 547,
"aa_end": null,
"aa_length": 580,
"cds_start": 1641,
"cds_end": null,
"cds_length": 1743,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000713763.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "n.*883A>G",
"hgvs_p": null,
"transcript": "ENST00000713764.1",
"protein_id": "ENSP00000519065.1",
"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": "ENST00000713764.1"
}
],
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"dbsnp": "rs200525496",
"frequency_reference_population": 0.00003655795,
"hom_count_reference_population": 0,
"allele_count_reference_population": 59,
"gnomad_exomes_af": 0.0000362627,
"gnomad_genomes_af": 0.0000393908,
"gnomad_exomes_ac": 53,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.800000011920929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.188,
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_003165.6",
"gene_symbol": "STXBP1",
"hgnc_id": 11444,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1683A>G",
"hgvs_p": "p.Gly561Gly"
}
],
"clinvar_disease": "Developmental and epileptic encephalopathy",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Developmental and epileptic encephalopathy",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}