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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: 6-26409653-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=26409653&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 26409653,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_007048.6",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN3A1",
"gene_hgnc_id": 1138,
"hgvs_c": "c.836C>G",
"hgvs_p": "p.Thr279Ser",
"transcript": "NM_007048.6",
"protein_id": "NP_008979.3",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 513,
"cds_start": 836,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000289361.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007048.6"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN3A1",
"gene_hgnc_id": 1138,
"hgvs_c": "c.836C>G",
"hgvs_p": "p.Thr279Ser",
"transcript": "ENST00000289361.11",
"protein_id": "ENSP00000289361.6",
"transcript_support_level": 1,
"aa_start": 279,
"aa_end": null,
"aa_length": 513,
"cds_start": 836,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007048.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000289361.11"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN3A1",
"gene_hgnc_id": 1138,
"hgvs_c": "c.836C>G",
"hgvs_p": "p.Thr279Ser",
"transcript": "ENST00000476549.6",
"protein_id": "ENSP00000420010.2",
"transcript_support_level": 1,
"aa_start": 279,
"aa_end": null,
"aa_length": 352,
"cds_start": 836,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000476549.6"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN3A1",
"gene_hgnc_id": 1138,
"hgvs_c": "c.836C>G",
"hgvs_p": "p.Thr279Ser",
"transcript": "ENST00000850859.1",
"protein_id": "ENSP00000520946.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 513,
"cds_start": 836,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000850859.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN3A1",
"gene_hgnc_id": 1138,
"hgvs_c": "c.836C>G",
"hgvs_p": "p.Thr279Ser",
"transcript": "ENST00000865809.1",
"protein_id": "ENSP00000535868.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 513,
"cds_start": 836,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865809.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN3A1",
"gene_hgnc_id": 1138,
"hgvs_c": "c.836C>G",
"hgvs_p": "p.Thr279Ser",
"transcript": "ENST00000865808.1",
"protein_id": "ENSP00000535867.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 506,
"cds_start": 836,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865808.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN3A1",
"gene_hgnc_id": 1138,
"hgvs_c": "c.680C>G",
"hgvs_p": "p.Thr227Ser",
"transcript": "NM_001145008.2",
"protein_id": "NP_001138480.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 461,
"cds_start": 680,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145008.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN3A1",
"gene_hgnc_id": 1138,
"hgvs_c": "c.680C>G",
"hgvs_p": "p.Thr227Ser",
"transcript": "ENST00000414912.2",
"protein_id": "ENSP00000406667.2",
"transcript_support_level": 2,
"aa_start": 227,
"aa_end": null,
"aa_length": 461,
"cds_start": 680,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000414912.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN3A1",
"gene_hgnc_id": 1138,
"hgvs_c": "c.680C>G",
"hgvs_p": "p.Thr227Ser",
"transcript": "ENST00000865812.1",
"protein_id": "ENSP00000535871.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 461,
"cds_start": 680,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865812.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN3A1",
"gene_hgnc_id": 1138,
"hgvs_c": "c.680C>G",
"hgvs_p": "p.Thr227Ser",
"transcript": "ENST00000865811.1",
"protein_id": "ENSP00000535870.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 454,
"cds_start": 680,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865811.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN3A1",
"gene_hgnc_id": 1138,
"hgvs_c": "c.836C>G",
"hgvs_p": "p.Thr279Ser",
"transcript": "NM_001145009.2",
"protein_id": "NP_001138481.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 378,
"cds_start": 836,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145009.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN3A1",
"gene_hgnc_id": 1138,
"hgvs_c": "c.836C>G",
"hgvs_p": "p.Thr279Ser",
"transcript": "ENST00000425234.6",
"protein_id": "ENSP00000396684.2",
"transcript_support_level": 2,
"aa_start": 279,
"aa_end": null,
"aa_length": 378,
"cds_start": 836,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425234.6"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN3A1",
"gene_hgnc_id": 1138,
"hgvs_c": "c.836C>G",
"hgvs_p": "p.Thr279Ser",
"transcript": "NM_194441.3",
"protein_id": "NP_919423.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 352,
"cds_start": 836,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_194441.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN3A1",
"gene_hgnc_id": 1138,
"hgvs_c": "c.836C>G",
"hgvs_p": "p.Thr279Ser",
"transcript": "XM_047418120.1",
"protein_id": "XP_047274076.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 513,
"cds_start": 836,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418120.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN3A1",
"gene_hgnc_id": 1138,
"hgvs_c": "c.836C>G",
"hgvs_p": "p.Thr279Ser",
"transcript": "XM_047418121.1",
"protein_id": "XP_047274077.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 513,
"cds_start": 836,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418121.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN3A1",
"gene_hgnc_id": 1138,
"hgvs_c": "c.836C>G",
"hgvs_p": "p.Thr279Ser",
"transcript": "XM_005248833.3",
"protein_id": "XP_005248890.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 506,
"cds_start": 836,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248833.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN3A1",
"gene_hgnc_id": 1138,
"hgvs_c": "c.836C>G",
"hgvs_p": "p.Thr279Ser",
"transcript": "XM_047418122.1",
"protein_id": "XP_047274078.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 506,
"cds_start": 836,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418122.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN3A1",
"gene_hgnc_id": 1138,
"hgvs_c": "c.836C>G",
"hgvs_p": "p.Thr279Ser",
"transcript": "XM_047418123.1",
"protein_id": "XP_047274079.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 378,
"cds_start": 836,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418123.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN3A1",
"gene_hgnc_id": 1138,
"hgvs_c": "c.836C>G",
"hgvs_p": "p.Thr279Ser",
"transcript": "XM_005248834.5",
"protein_id": "XP_005248891.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 352,
"cds_start": 836,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248834.5"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN3A1",
"gene_hgnc_id": 1138,
"hgvs_c": "c.836C>G",
"hgvs_p": "p.Thr279Ser",
"transcript": "XM_047418124.1",
"protein_id": "XP_047274080.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 352,
"cds_start": 836,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418124.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN3A1",
"gene_hgnc_id": 1138,
"hgvs_c": "c.836C>G",
"hgvs_p": "p.Thr279Ser",
"transcript": "XM_047418125.1",
"protein_id": "XP_047274081.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 345,
"cds_start": 836,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418125.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTN3A1",
"gene_hgnc_id": 1138,
"hgvs_c": "c.680C>G",
"hgvs_p": "p.Thr227Ser",
"transcript": "XM_047418126.1",
"protein_id": "XP_047274082.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 326,
"cds_start": 680,
"cds_end": null,
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"cdna_start": null,
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{
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{
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{
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],
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"computational_score_selected": 0.020281612873077393,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.011,
"phylop100way_prediction": "Benign",
"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": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_007048.6",
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"effects": [
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],
"inheritance_mode": "AR",
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},
{
"score": -4,
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"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000707189.1",
"gene_symbol": "ENSG00000291336",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1000-143534C>G",
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},
{
"score": -4,
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"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000707191.1",
"gene_symbol": "ENSG00000291338",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1001-123052C>G",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}