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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: 9-35106364-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=35106364&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 35106364,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_025182.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSB",
"gene_hgnc_id": 25666,
"hgvs_c": "c.1106G>C",
"hgvs_p": "p.Gly369Ala",
"transcript": "NM_025182.4",
"protein_id": "NP_079458.2",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 538,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000322813.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025182.4"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSB",
"gene_hgnc_id": 25666,
"hgvs_c": "c.1106G>C",
"hgvs_p": "p.Gly369Ala",
"transcript": "ENST00000322813.10",
"protein_id": "ENSP00000319897.5",
"transcript_support_level": 1,
"aa_start": 369,
"aa_end": null,
"aa_length": 538,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_025182.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322813.10"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSB",
"gene_hgnc_id": 25666,
"hgvs_c": "c.1106G>C",
"hgvs_p": "p.Gly369Ala",
"transcript": "ENST00000378557.1",
"protein_id": "ENSP00000367819.1",
"transcript_support_level": 1,
"aa_start": 369,
"aa_end": null,
"aa_length": 538,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378557.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSB",
"gene_hgnc_id": 25666,
"hgvs_c": "c.1106G>C",
"hgvs_p": "p.Gly369Ala",
"transcript": "ENST00000378561.5",
"protein_id": "ENSP00000367823.1",
"transcript_support_level": 1,
"aa_start": 369,
"aa_end": null,
"aa_length": 538,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378561.5"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSB",
"gene_hgnc_id": 25666,
"hgvs_c": "c.1106G>C",
"hgvs_p": "p.Gly369Ala",
"transcript": "ENST00000603301.5",
"protein_id": "ENSP00000474335.1",
"transcript_support_level": 1,
"aa_start": 369,
"aa_end": null,
"aa_length": 538,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000603301.5"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSB",
"gene_hgnc_id": 25666,
"hgvs_c": "c.1106G>C",
"hgvs_p": "p.Gly369Ala",
"transcript": "NM_001317991.2",
"protein_id": "NP_001304920.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 538,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317991.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSB",
"gene_hgnc_id": 25666,
"hgvs_c": "c.1106G>C",
"hgvs_p": "p.Gly369Ala",
"transcript": "ENST00000488109.6",
"protein_id": "ENSP00000475120.1",
"transcript_support_level": 5,
"aa_start": 369,
"aa_end": null,
"aa_length": 538,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000488109.6"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSB",
"gene_hgnc_id": 25666,
"hgvs_c": "c.1106G>C",
"hgvs_p": "p.Gly369Ala",
"transcript": "ENST00000605244.5",
"protein_id": "ENSP00000474833.1",
"transcript_support_level": 5,
"aa_start": 369,
"aa_end": null,
"aa_length": 538,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000605244.5"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSB",
"gene_hgnc_id": 25666,
"hgvs_c": "c.1106G>C",
"hgvs_p": "p.Gly369Ala",
"transcript": "ENST00000903792.1",
"protein_id": "ENSP00000573851.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 538,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903792.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSB",
"gene_hgnc_id": 25666,
"hgvs_c": "c.1106G>C",
"hgvs_p": "p.Gly369Ala",
"transcript": "ENST00000903793.1",
"protein_id": "ENSP00000573852.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 538,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903793.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSB",
"gene_hgnc_id": 25666,
"hgvs_c": "c.1106G>C",
"hgvs_p": "p.Gly369Ala",
"transcript": "ENST00000903794.1",
"protein_id": "ENSP00000573853.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 538,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903794.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSB",
"gene_hgnc_id": 25666,
"hgvs_c": "c.1106G>C",
"hgvs_p": "p.Gly369Ala",
"transcript": "ENST00000903795.1",
"protein_id": "ENSP00000573854.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 538,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903795.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSB",
"gene_hgnc_id": 25666,
"hgvs_c": "c.1106G>C",
"hgvs_p": "p.Gly369Ala",
"transcript": "ENST00000903796.1",
"protein_id": "ENSP00000573855.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 538,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903796.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSB",
"gene_hgnc_id": 25666,
"hgvs_c": "c.1106G>C",
"hgvs_p": "p.Gly369Ala",
"transcript": "ENST00000903799.1",
"protein_id": "ENSP00000573858.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 538,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903799.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSB",
"gene_hgnc_id": 25666,
"hgvs_c": "c.1106G>C",
"hgvs_p": "p.Gly369Ala",
"transcript": "ENST00000903800.1",
"protein_id": "ENSP00000573859.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 538,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903800.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSB",
"gene_hgnc_id": 25666,
"hgvs_c": "c.1106G>C",
"hgvs_p": "p.Gly369Ala",
"transcript": "ENST00000903802.1",
"protein_id": "ENSP00000573861.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 538,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903802.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSB",
"gene_hgnc_id": 25666,
"hgvs_c": "c.1106G>C",
"hgvs_p": "p.Gly369Ala",
"transcript": "ENST00000919194.1",
"protein_id": "ENSP00000589253.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 538,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919194.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSB",
"gene_hgnc_id": 25666,
"hgvs_c": "c.1106G>C",
"hgvs_p": "p.Gly369Ala",
"transcript": "ENST00000919197.1",
"protein_id": "ENSP00000589256.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 538,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919197.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSB",
"gene_hgnc_id": 25666,
"hgvs_c": "c.1106G>C",
"hgvs_p": "p.Gly369Ala",
"transcript": "ENST00000971395.1",
"protein_id": "ENSP00000641454.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 537,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971395.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSB",
"gene_hgnc_id": 25666,
"hgvs_c": "c.1106G>C",
"hgvs_p": "p.Gly369Ala",
"transcript": "ENST00000971396.1",
"protein_id": "ENSP00000641455.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 532,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971396.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSB",
"gene_hgnc_id": 25666,
"hgvs_c": "c.1106G>C",
"hgvs_p": "p.Gly369Ala",
"transcript": "ENST00000971397.1",
"protein_id": "ENSP00000641456.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 532,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971397.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSB",
"gene_hgnc_id": 25666,
"hgvs_c": "c.1106G>C",
"hgvs_p": "p.Gly369Ala",
"transcript": "ENST00000903798.1",
"protein_id": "ENSP00000573857.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 531,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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{
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{
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{
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{
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],
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"gene_symbol": "ATOSB",
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"hgvs_c": "n.958G>C",
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"transcript": "NR_134455.2",
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"biotype": "pseudogene",
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],
"gene_symbol": "ATOSB",
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"dbsnp": "rs751490022",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8725453615188599,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.507,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8843,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.38,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.34,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_025182.4",
"gene_symbol": "ATOSB",
"hgnc_id": 25666,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1106G>C",
"hgvs_p": "p.Gly369Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}