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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: 19-1036169-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=1036169&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 1036169,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001303501.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNN2",
"gene_hgnc_id": 2156,
"hgvs_c": "c.430G>T",
"hgvs_p": "p.Val144Phe",
"transcript": "NM_004368.4",
"protein_id": "NP_004359.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 309,
"cds_start": 430,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263097.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004368.4"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNN2",
"gene_hgnc_id": 2156,
"hgvs_c": "c.430G>T",
"hgvs_p": "p.Val144Phe",
"transcript": "ENST00000263097.9",
"protein_id": "ENSP00000263097.2",
"transcript_support_level": 1,
"aa_start": 144,
"aa_end": null,
"aa_length": 309,
"cds_start": 430,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004368.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263097.9"
},
{
"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": "CNN2",
"gene_hgnc_id": 2156,
"hgvs_c": "c.34-247G>T",
"hgvs_p": null,
"transcript": "ENST00000607102.1",
"protein_id": "ENSP00000475175.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 101,
"cds_start": null,
"cds_end": null,
"cds_length": 306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000607102.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNN2",
"gene_hgnc_id": 2156,
"hgvs_c": "c.493G>T",
"hgvs_p": "p.Val165Phe",
"transcript": "NM_001303501.2",
"protein_id": "NP_001290430.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 330,
"cds_start": 493,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303501.2"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNN2",
"gene_hgnc_id": 2156,
"hgvs_c": "c.493G>T",
"hgvs_p": "p.Val165Phe",
"transcript": "ENST00000562958.6",
"protein_id": "ENSP00000456436.1",
"transcript_support_level": 2,
"aa_start": 165,
"aa_end": null,
"aa_length": 330,
"cds_start": 493,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562958.6"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNN2",
"gene_hgnc_id": 2156,
"hgvs_c": "c.424G>T",
"hgvs_p": "p.Val142Phe",
"transcript": "ENST00000926772.1",
"protein_id": "ENSP00000596831.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 307,
"cds_start": 424,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926772.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNN2",
"gene_hgnc_id": 2156,
"hgvs_c": "c.409G>T",
"hgvs_p": "p.Val137Phe",
"transcript": "ENST00000926776.1",
"protein_id": "ENSP00000596835.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 302,
"cds_start": 409,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926776.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNN2",
"gene_hgnc_id": 2156,
"hgvs_c": "c.397G>T",
"hgvs_p": "p.Val133Phe",
"transcript": "NM_001303499.2",
"protein_id": "NP_001290428.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 298,
"cds_start": 397,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303499.2"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNN2",
"gene_hgnc_id": 2156,
"hgvs_c": "c.397G>T",
"hgvs_p": "p.Val133Phe",
"transcript": "ENST00000565096.6",
"protein_id": "ENSP00000457968.1",
"transcript_support_level": 2,
"aa_start": 133,
"aa_end": null,
"aa_length": 298,
"cds_start": 397,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565096.6"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNN2",
"gene_hgnc_id": 2156,
"hgvs_c": "c.325G>T",
"hgvs_p": "p.Val109Phe",
"transcript": "ENST00000926779.1",
"protein_id": "ENSP00000596838.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 274,
"cds_start": 325,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926779.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNN2",
"gene_hgnc_id": 2156,
"hgvs_c": "c.430G>T",
"hgvs_p": "p.Val144Phe",
"transcript": "ENST00000926777.1",
"protein_id": "ENSP00000596836.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 269,
"cds_start": 430,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926777.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNN2",
"gene_hgnc_id": 2156,
"hgvs_c": "c.292G>T",
"hgvs_p": "p.Val98Phe",
"transcript": "ENST00000865315.1",
"protein_id": "ENSP00000535374.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 263,
"cds_start": 292,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865315.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNN2",
"gene_hgnc_id": 2156,
"hgvs_c": "c.430G>T",
"hgvs_p": "p.Val144Phe",
"transcript": "ENST00000568865.3",
"protein_id": "ENSP00000458137.2",
"transcript_support_level": 5,
"aa_start": 144,
"aa_end": null,
"aa_length": 261,
"cds_start": 430,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000568865.3"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNN2",
"gene_hgnc_id": 2156,
"hgvs_c": "c.241G>T",
"hgvs_p": "p.Val81Phe",
"transcript": "ENST00000566695.6",
"protein_id": "ENSP00000484533.2",
"transcript_support_level": 2,
"aa_start": 81,
"aa_end": null,
"aa_length": 246,
"cds_start": 241,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566695.6"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNN2",
"gene_hgnc_id": 2156,
"hgvs_c": "c.103G>T",
"hgvs_p": "p.Val35Phe",
"transcript": "ENST00000926773.1",
"protein_id": "ENSP00000596832.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 200,
"cds_start": 103,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926773.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNN2",
"gene_hgnc_id": 2156,
"hgvs_c": "c.403G>T",
"hgvs_p": "p.Val135Phe",
"transcript": "ENST00000606983.5",
"protein_id": "ENSP00000484749.1",
"transcript_support_level": 3,
"aa_start": 135,
"aa_end": null,
"aa_length": 178,
"cds_start": 403,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000606983.5"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CNN2",
"gene_hgnc_id": 2156,
"hgvs_c": "c.391-247G>T",
"hgvs_p": null,
"transcript": "NM_201277.3",
"protein_id": "NP_958434.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 270,
"cds_start": null,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201277.3"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CNN2",
"gene_hgnc_id": 2156,
"hgvs_c": "c.391-247G>T",
"hgvs_p": null,
"transcript": "ENST00000348419.7",
"protein_id": "ENSP00000340129.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 270,
"cds_start": null,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348419.7"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CNN2",
"gene_hgnc_id": 2156,
"hgvs_c": "c.364-247G>T",
"hgvs_p": null,
"transcript": "ENST00000926774.1",
"protein_id": "ENSP00000596833.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 261,
"cds_start": null,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926774.1"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CNN2",
"gene_hgnc_id": 2156,
"hgvs_c": "c.358-247G>T",
"hgvs_p": null,
"transcript": "ENST00000926775.1",
"protein_id": "ENSP00000596834.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 259,
"cds_start": null,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926775.1"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CNN2",
"gene_hgnc_id": 2156,
"hgvs_c": "c.253-247G>T",
"hgvs_p": null,
"transcript": "ENST00000926778.1",
"protein_id": "ENSP00000596837.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 224,
"cds_start": null,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926778.1"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CNN2",
"gene_hgnc_id": 2156,
"hgvs_c": "c.391-1456G>T",
"hgvs_p": null,
"transcript": "ENST00000865316.1",
"protein_id": "ENSP00000535375.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 221,
"cds_start": null,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865316.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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{
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],
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.47701331973075867,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.743,
"phylop100way_prediction": "Uncertain_significance",
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"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2",
"acmg_by_gene": [
{
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"criteria": [
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"PP2"
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"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AR",
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"hgvs_p": "p.Val165Phe"
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}