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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: 2-3626058-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=3626058&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 3626058,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000349077.9",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COLEC11",
"gene_hgnc_id": 17213,
"hgvs_c": "c.159G>A",
"hgvs_p": "p.Lys53Lys",
"transcript": "ENST00000236693.11",
"protein_id": "ENSP00000236693.7",
"transcript_support_level": 1,
"aa_start": 53,
"aa_end": null,
"aa_length": 268,
"cds_start": 159,
"cds_end": null,
"cds_length": 807,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 1381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "COLEC11",
"gene_hgnc_id": 17213,
"hgvs_c": "c.203-11475G>A",
"hgvs_p": null,
"transcript": "NM_024027.5",
"protein_id": "NP_076932.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 271,
"cds_start": -4,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1425,
"mane_select": "ENST00000349077.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "COLEC11",
"gene_hgnc_id": 17213,
"hgvs_c": "c.203-11475G>A",
"hgvs_p": null,
"transcript": "ENST00000349077.9",
"protein_id": "ENSP00000339168.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 271,
"cds_start": -4,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1425,
"mane_select": "NM_024027.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "COLEC11",
"gene_hgnc_id": 17213,
"hgvs_c": "c.202+12676G>A",
"hgvs_p": null,
"transcript": "ENST00000382062.6",
"protein_id": "ENSP00000371494.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 247,
"cds_start": -4,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "COLEC11",
"gene_hgnc_id": 17213,
"hgvs_c": "c.125-11475G>A",
"hgvs_p": null,
"transcript": "ENST00000403096.7",
"protein_id": "ENSP00000385130.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": -4,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "COLEC11",
"gene_hgnc_id": 17213,
"hgvs_c": "c.53-11475G>A",
"hgvs_p": null,
"transcript": "ENST00000402794.4",
"protein_id": "ENSP00000384882.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 221,
"cds_start": -4,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "COLEC11",
"gene_hgnc_id": 17213,
"hgvs_c": "c.124+12676G>A",
"hgvs_p": null,
"transcript": "ENST00000402922.2",
"protein_id": "ENSP00000385653.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 221,
"cds_start": -4,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "COLEC11",
"gene_hgnc_id": 17213,
"hgvs_c": "c.53-14220G>A",
"hgvs_p": null,
"transcript": "ENST00000404205.5",
"protein_id": "ENSP00000385827.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 197,
"cds_start": -4,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "COLEC11",
"gene_hgnc_id": 17213,
"hgvs_c": "n.371-14220G>A",
"hgvs_p": null,
"transcript": "ENST00000460971.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "COLEC11",
"gene_hgnc_id": 17213,
"hgvs_c": "n.371-11475G>A",
"hgvs_p": null,
"transcript": "ENST00000487365.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COLEC11",
"gene_hgnc_id": 17213,
"hgvs_c": "c.159G>A",
"hgvs_p": "p.Lys53Lys",
"transcript": "NM_199235.3",
"protein_id": "NP_954705.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 268,
"cds_start": 159,
"cds_end": null,
"cds_length": 807,
"cdna_start": 330,
"cdna_end": null,
"cdna_length": 1504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "COLEC11",
"gene_hgnc_id": 17213,
"hgvs_c": "c.245-11475G>A",
"hgvs_p": null,
"transcript": "NM_001255985.1",
"protein_id": "NP_001242914.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 285,
"cds_start": -4,
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"cds_length": 858,
"cdna_start": null,
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"cdna_length": 1595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "COLEC11",
"gene_hgnc_id": 17213,
"hgvs_c": "c.245-11475G>A",
"hgvs_p": null,
"transcript": "ENST00000418971.6",
"protein_id": "ENSP00000411770.2",
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": 285,
"cds_start": -4,
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"cds_length": 858,
"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "COLEC11",
"gene_hgnc_id": 17213,
"hgvs_c": "c.131-11475G>A",
"hgvs_p": null,
"transcript": "NM_001255982.2",
"protein_id": "NP_001242911.1",
"transcript_support_level": null,
"aa_start": null,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 3,
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"gene_symbol": "COLEC11",
"gene_hgnc_id": 17213,
"hgvs_c": "c.202+12676G>A",
"hgvs_p": null,
"transcript": "NM_001255983.2",
"protein_id": "NP_001242912.1",
"transcript_support_level": null,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 2,
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"gene_symbol": "COLEC11",
"gene_hgnc_id": 17213,
"hgvs_c": "c.125-11475G>A",
"hgvs_p": null,
"transcript": "NM_001255986.1",
"protein_id": "NP_001242915.1",
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},
{
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],
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"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "COLEC11",
"gene_hgnc_id": 17213,
"hgvs_c": "c.131-14220G>A",
"hgvs_p": null,
"transcript": "NM_001255984.2",
"protein_id": "NP_001242913.1",
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "COLEC11",
"gene_hgnc_id": 17213,
"hgvs_c": "c.53-11475G>A",
"hgvs_p": null,
"transcript": "NM_001255987.1",
"protein_id": "NP_001242916.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "COLEC11",
"gene_hgnc_id": 17213,
"hgvs_c": "c.124+12676G>A",
"hgvs_p": null,
"transcript": "NM_001255988.1",
"protein_id": "NP_001242917.1",
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},
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],
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"intron_rank": 1,
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"gene_symbol": "COLEC11",
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"hgvs_c": "c.53-14220G>A",
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},
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 4,
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"gene_symbol": "COLEC11",
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"hgvs_c": "c.245-11475G>A",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "COLEC11",
"gene_hgnc_id": 17213,
"hgvs_c": "n.203-11475G>A",
"hgvs_p": null,
"transcript": "ENST00000416132.5",
"protein_id": "ENSP00000410919.1",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "COLEC11",
"gene_hgnc_id": 17213,
"hgvs_c": "n.286-11475G>A",
"hgvs_p": null,
"transcript": "NR_045659.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "COLEC11",
"gene_hgnc_id": 17213,
"hgvs_c": "c.173-11475G>A",
"hgvs_p": null,
"transcript": "XM_005263853.5",
"protein_id": "XP_005263910.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 261,
"cds_start": -4,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "COLEC11",
"gene_hgnc_id": 17213,
"hgvs_c": "c.244+12676G>A",
"hgvs_p": null,
"transcript": "XM_006711897.4",
"protein_id": "XP_006711960.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 261,
"cds_start": -4,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "COLEC11",
"gene_hgnc_id": 17213,
"dbsnp": "rs10170348",
"frequency_reference_population": 0.13933808,
"hom_count_reference_population": 17696,
"allele_count_reference_population": 224771,
"gnomad_exomes_af": 0.142354,
"gnomad_genomes_af": 0.110419,
"gnomad_exomes_ac": 207952,
"gnomad_genomes_ac": 16819,
"gnomad_exomes_homalt": 16420,
"gnomad_genomes_homalt": 1276,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.949999988079071,
"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": -0.95,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.502,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000349077.9",
"gene_symbol": "COLEC11",
"hgnc_id": 17213,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.203-11475G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}