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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: 5-878410-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=878410&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 878410,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001375861.1",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD9",
"gene_hgnc_id": 25818,
"hgvs_c": "c.1216A>G",
"hgvs_p": "p.Met406Val",
"transcript": "NM_023924.5",
"protein_id": "NP_076413.3",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 597,
"cds_start": 1216,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000467963.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_023924.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD9",
"gene_hgnc_id": 25818,
"hgvs_c": "c.1216A>G",
"hgvs_p": "p.Met406Val",
"transcript": "ENST00000467963.6",
"protein_id": "ENSP00000419765.1",
"transcript_support_level": 2,
"aa_start": 406,
"aa_end": null,
"aa_length": 597,
"cds_start": 1216,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_023924.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000467963.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD9",
"gene_hgnc_id": 25818,
"hgvs_c": "n.250A>G",
"hgvs_p": null,
"transcript": "ENST00000475706.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000475706.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD9",
"gene_hgnc_id": 25818,
"hgvs_c": "n.*908A>G",
"hgvs_p": null,
"transcript": "ENST00000489816.5",
"protein_id": "ENSP00000419752.1",
"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": "ENST00000489816.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD9",
"gene_hgnc_id": 25818,
"hgvs_c": "n.*1181A>G",
"hgvs_p": null,
"transcript": "ENST00000490814.6",
"protein_id": "ENSP00000417431.2",
"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": "ENST00000490814.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD9",
"gene_hgnc_id": 25818,
"hgvs_c": "n.*908A>G",
"hgvs_p": null,
"transcript": "ENST00000489816.5",
"protein_id": "ENSP00000419752.1",
"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": "ENST00000489816.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD9",
"gene_hgnc_id": 25818,
"hgvs_c": "n.*1181A>G",
"hgvs_p": null,
"transcript": "ENST00000490814.6",
"protein_id": "ENSP00000417431.2",
"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": "ENST00000490814.6"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD9",
"gene_hgnc_id": 25818,
"hgvs_c": "c.1366A>G",
"hgvs_p": "p.Met456Val",
"transcript": "NM_001375861.1",
"protein_id": "NP_001362790.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 647,
"cds_start": 1366,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375861.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD9",
"gene_hgnc_id": 25818,
"hgvs_c": "c.1339A>G",
"hgvs_p": "p.Met447Val",
"transcript": "NM_001375862.1",
"protein_id": "NP_001362791.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 638,
"cds_start": 1339,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375862.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD9",
"gene_hgnc_id": 25818,
"hgvs_c": "c.1282A>G",
"hgvs_p": "p.Met428Val",
"transcript": "NM_001375863.1",
"protein_id": "NP_001362792.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 619,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375863.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD9",
"gene_hgnc_id": 25818,
"hgvs_c": "c.1282A>G",
"hgvs_p": "p.Met428Val",
"transcript": "ENST00000944369.1",
"protein_id": "ENSP00000614428.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 619,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944369.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD9",
"gene_hgnc_id": 25818,
"hgvs_c": "c.1279A>G",
"hgvs_p": "p.Met427Val",
"transcript": "ENST00000869701.1",
"protein_id": "ENSP00000539760.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 618,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869701.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD9",
"gene_hgnc_id": 25818,
"hgvs_c": "c.1276A>G",
"hgvs_p": "p.Met426Val",
"transcript": "NM_001375877.1",
"protein_id": "NP_001362806.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 617,
"cds_start": 1276,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375877.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD9",
"gene_hgnc_id": 25818,
"hgvs_c": "c.1276A>G",
"hgvs_p": "p.Met426Val",
"transcript": "ENST00000869700.1",
"protein_id": "ENSP00000539759.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 617,
"cds_start": 1276,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869700.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD9",
"gene_hgnc_id": 25818,
"hgvs_c": "c.1276A>G",
"hgvs_p": "p.Met426Val",
"transcript": "ENST00000869705.1",
"protein_id": "ENSP00000539764.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 617,
"cds_start": 1276,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869705.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD9",
"gene_hgnc_id": 25818,
"hgvs_c": "c.1264A>G",
"hgvs_p": "p.Met422Val",
"transcript": "ENST00000869703.1",
"protein_id": "ENSP00000539762.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 613,
"cds_start": 1264,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869703.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD9",
"gene_hgnc_id": 25818,
"hgvs_c": "c.1216A>G",
"hgvs_p": "p.Met406Val",
"transcript": "ENST00000869706.1",
"protein_id": "ENSP00000539765.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 613,
"cds_start": 1216,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869706.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD9",
"gene_hgnc_id": 25818,
"hgvs_c": "c.1213A>G",
"hgvs_p": "p.Met405Val",
"transcript": "ENST00000869704.1",
"protein_id": "ENSP00000539763.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 612,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869704.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD9",
"gene_hgnc_id": 25818,
"hgvs_c": "c.1222A>G",
"hgvs_p": "p.Met408Val",
"transcript": "NM_001375878.1",
"protein_id": "NP_001362807.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 599,
"cds_start": 1222,
"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": "NM_001375878.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD9",
"gene_hgnc_id": 25818,
"hgvs_c": "c.1222A>G",
"hgvs_p": "p.Met408Val",
"transcript": "ENST00000922420.1",
"protein_id": "ENSP00000592479.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 599,
"cds_start": 1222,
"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": "ENST00000922420.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD9",
"gene_hgnc_id": 25818,
"hgvs_c": "c.1213A>G",
"hgvs_p": "p.Met405Val",
"transcript": "NM_001375879.1",
"protein_id": "NP_001362808.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 596,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375879.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD9",
"gene_hgnc_id": 25818,
"hgvs_c": "c.1213A>G",
"hgvs_p": "p.Met405Val",
"transcript": "ENST00000869702.1",
"protein_id": "ENSP00000539761.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 596,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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{
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{
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"consequences": [
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],
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{
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{
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"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"gene_symbol": "BRD9",
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"biotype": "pseudogene",
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],
"gene_symbol": "BRD9",
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"dbsnp": "rs508016",
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"hom_count_reference_population": 0,
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"gnomad_exomes_ac": 4,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07769325375556946,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.043,
"revel_prediction": "Benign",
"alphamissense_score": 0.0737,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.439,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001375861.1",
"gene_symbol": "BRD9",
"hgnc_id": 25818,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1366A>G",
"hgvs_p": "p.Met456Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}