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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: 18-23931125-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=23931125&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 23931125,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000313654.14",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 65,
"exon_rank_end": null,
"exon_count": 75,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.8500G>A",
"hgvs_p": "p.Gly2834Ser",
"transcript": "NM_198129.4",
"protein_id": "NP_937762.2",
"transcript_support_level": null,
"aa_start": 2834,
"aa_end": null,
"aa_length": 3333,
"cds_start": 8500,
"cds_end": null,
"cds_length": 10002,
"cdna_start": 8731,
"cdna_end": null,
"cdna_length": 10651,
"mane_select": "ENST00000313654.14",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 65,
"exon_rank_end": null,
"exon_count": 75,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.8500G>A",
"hgvs_p": "p.Gly2834Ser",
"transcript": "ENST00000313654.14",
"protein_id": "ENSP00000324532.8",
"transcript_support_level": 1,
"aa_start": 2834,
"aa_end": null,
"aa_length": 3333,
"cds_start": 8500,
"cds_end": null,
"cds_length": 10002,
"cdna_start": 8731,
"cdna_end": null,
"cdna_length": 10651,
"mane_select": "NM_198129.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.3673G>A",
"hgvs_p": "p.Gly1225Ser",
"transcript": "NM_000227.6",
"protein_id": "NP_000218.3",
"transcript_support_level": null,
"aa_start": 1225,
"aa_end": null,
"aa_length": 1724,
"cds_start": 3673,
"cds_end": null,
"cds_length": 5175,
"cdna_start": 3698,
"cdna_end": null,
"cdna_length": 5618,
"mane_select": null,
"mane_plus": "ENST00000269217.11",
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.3673G>A",
"hgvs_p": "p.Gly1225Ser",
"transcript": "ENST00000269217.11",
"protein_id": "ENSP00000269217.5",
"transcript_support_level": 1,
"aa_start": 1225,
"aa_end": null,
"aa_length": 1724,
"cds_start": 3673,
"cds_end": null,
"cds_length": 5175,
"cdna_start": 3698,
"cdna_end": null,
"cdna_length": 5618,
"mane_select": null,
"mane_plus": "NM_000227.6",
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 64,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.8332G>A",
"hgvs_p": "p.Gly2778Ser",
"transcript": "ENST00000399516.7",
"protein_id": "ENSP00000382432.2",
"transcript_support_level": 1,
"aa_start": 2778,
"aa_end": null,
"aa_length": 3277,
"cds_start": 8332,
"cds_end": null,
"cds_length": 9834,
"cdna_start": 8332,
"cdna_end": null,
"cdna_length": 9834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.3505G>A",
"hgvs_p": "p.Gly1169Ser",
"transcript": "ENST00000587184.5",
"protein_id": "ENSP00000466557.1",
"transcript_support_level": 1,
"aa_start": 1169,
"aa_end": null,
"aa_length": 1668,
"cds_start": 3505,
"cds_end": null,
"cds_length": 5007,
"cdna_start": 3505,
"cdna_end": null,
"cdna_length": 5007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.3277G>A",
"hgvs_p": "p.Gly1093Ser",
"transcript": "ENST00000586751.5",
"protein_id": "ENSP00000464836.1",
"transcript_support_level": 1,
"aa_start": 1093,
"aa_end": null,
"aa_length": 1146,
"cds_start": 3277,
"cds_end": null,
"cds_length": 3441,
"cdna_start": 3278,
"cdna_end": null,
"cdna_length": 3494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "n.3078G>A",
"hgvs_p": null,
"transcript": "ENST00000588770.5",
"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": 4921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 64,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.8332G>A",
"hgvs_p": "p.Gly2778Ser",
"transcript": "NM_001127717.4",
"protein_id": "NP_001121189.2",
"transcript_support_level": null,
"aa_start": 2778,
"aa_end": null,
"aa_length": 3277,
"cds_start": 8332,
"cds_end": null,
"cds_length": 9834,
"cdna_start": 8563,
"cdna_end": null,
"cdna_length": 10483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.5095G>A",
"hgvs_p": "p.Gly1699Ser",
"transcript": "ENST00000649721.1",
"protein_id": "ENSP00000497885.1",
"transcript_support_level": null,
"aa_start": 1699,
"aa_end": null,
"aa_length": 2198,
"cds_start": 5095,
"cds_end": null,
"cds_length": 6597,
"cdna_start": 5095,
"cdna_end": null,
"cdna_length": 8171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.3505G>A",
"hgvs_p": "p.Gly1169Ser",
"transcript": "NM_001127718.4",
"protein_id": "NP_001121190.2",
"transcript_support_level": null,
"aa_start": 1169,
"aa_end": null,
"aa_length": 1668,
"cds_start": 3505,
"cds_end": null,
"cds_length": 5007,
"cdna_start": 3530,
"cdna_end": null,
"cdna_length": 5450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Gly69Ser",
"transcript": "ENST00000588164.2",
"protein_id": "ENSP00000467473.2",
"transcript_support_level": 5,
"aa_start": 69,
"aa_end": null,
"aa_length": 94,
"cds_start": 205,
"cds_end": null,
"cds_length": 285,
"cdna_start": 205,
"cdna_end": null,
"cdna_length": 771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 65,
"exon_rank_end": null,
"exon_count": 75,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.8527G>A",
"hgvs_p": "p.Gly2843Ser",
"transcript": "XM_011525978.3",
"protein_id": "XP_011524280.1",
"transcript_support_level": null,
"aa_start": 2843,
"aa_end": null,
"aa_length": 3342,
"cds_start": 8527,
"cds_end": null,
"cds_length": 10029,
"cdna_start": 8758,
"cdna_end": null,
"cdna_length": 10678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 65,
"exon_rank_end": null,
"exon_count": 75,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.8518G>A",
"hgvs_p": "p.Gly2840Ser",
"transcript": "XM_011525979.3",
"protein_id": "XP_011524281.1",
"transcript_support_level": null,
"aa_start": 2840,
"aa_end": null,
"aa_length": 3339,
"cds_start": 8518,
"cds_end": null,
"cds_length": 10020,
"cdna_start": 8749,
"cdna_end": null,
"cdna_length": 10669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 65,
"exon_rank_end": null,
"exon_count": 75,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.8509G>A",
"hgvs_p": "p.Gly2837Ser",
"transcript": "XM_011525980.3",
"protein_id": "XP_011524282.1",
"transcript_support_level": null,
"aa_start": 2837,
"aa_end": null,
"aa_length": 3336,
"cds_start": 8509,
"cds_end": null,
"cds_length": 10011,
"cdna_start": 8740,
"cdna_end": null,
"cdna_length": 10660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 64,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.8395G>A",
"hgvs_p": "p.Gly2799Ser",
"transcript": "XM_011525981.3",
"protein_id": "XP_011524283.1",
"transcript_support_level": null,
"aa_start": 2799,
"aa_end": null,
"aa_length": 3298,
"cds_start": 8395,
"cds_end": null,
"cds_length": 9897,
"cdna_start": 8626,
"cdna_end": null,
"cdna_length": 10546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 64,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.8386G>A",
"hgvs_p": "p.Gly2796Ser",
"transcript": "XM_047437503.1",
"protein_id": "XP_047293459.1",
"transcript_support_level": null,
"aa_start": 2796,
"aa_end": null,
"aa_length": 3295,
"cds_start": 8386,
"cds_end": null,
"cds_length": 9888,
"cdna_start": 8617,
"cdna_end": null,
"cdna_length": 10537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 64,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.8368G>A",
"hgvs_p": "p.Gly2790Ser",
"transcript": "XM_047437504.1",
"protein_id": "XP_047293460.1",
"transcript_support_level": null,
"aa_start": 2790,
"aa_end": null,
"aa_length": 3289,
"cds_start": 8368,
"cds_end": null,
"cds_length": 9870,
"cdna_start": 8599,
"cdna_end": null,
"cdna_length": 10519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 65,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.8527G>A",
"hgvs_p": "p.Gly2843Ser",
"transcript": "XM_047437505.1",
"protein_id": "XP_047293461.1",
"transcript_support_level": null,
"aa_start": 2843,
"aa_end": null,
"aa_length": 3259,
"cds_start": 8527,
"cds_end": null,
"cds_length": 9780,
"cdna_start": 8758,
"cdna_end": null,
"cdna_length": 10091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 63,
"exon_rank_end": null,
"exon_count": 73,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.8230G>A",
"hgvs_p": "p.Gly2744Ser",
"transcript": "XM_011525982.3",
"protein_id": "XP_011524284.1",
"transcript_support_level": null,
"aa_start": 2744,
"aa_end": null,
"aa_length": 3243,
"cds_start": 8230,
"cds_end": null,
"cds_length": 9732,
"cdna_start": 8461,
"cdna_end": null,
"cdna_length": 10381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 63,
"exon_rank_end": null,
"exon_count": 73,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.8203G>A",
"hgvs_p": "p.Gly2735Ser",
"transcript": "XM_047437506.1",
"protein_id": "XP_047293462.1",
"transcript_support_level": null,
"aa_start": 2735,
"aa_end": null,
"aa_length": 3234,
"cds_start": 8203,
"cds_end": null,
"cds_length": 9705,
"cdna_start": 8434,
"cdna_end": null,
"cdna_length": 10354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.6379G>A",
"hgvs_p": "p.Gly2127Ser",
"transcript": "XM_017025743.1",
"protein_id": "XP_016881232.1",
"transcript_support_level": null,
"aa_start": 2127,
"aa_end": null,
"aa_length": 2626,
"cds_start": 6379,
"cds_end": null,
"cds_length": 7881,
"cdna_start": 6452,
"cdna_end": null,
"cdna_length": 8372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.4069G>A",
"hgvs_p": "p.Gly1357Ser",
"transcript": "XM_017025744.2",
"protein_id": "XP_016881233.1",
"transcript_support_level": null,
"aa_start": 1357,
"aa_end": null,
"aa_length": 1856,
"cds_start": 4069,
"cds_end": null,
"cds_length": 5571,
"cdna_start": 4511,
"cdna_end": null,
"cdna_length": 6431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "n.-30G>A",
"hgvs_p": null,
"transcript": "ENST00000592442.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"dbsnp": "rs1154233",
"frequency_reference_population": 0.00003595869,
"hom_count_reference_population": 0,
"allele_count_reference_population": 58,
"gnomad_exomes_af": 0.0000308066,
"gnomad_genomes_af": 0.0000853949,
"gnomad_exomes_ac": 45,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.084328293800354,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.063,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.95,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.824,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"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_Moderate,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000313654.14",
"gene_symbol": "LAMA3",
"hgnc_id": 6483,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.8500G>A",
"hgvs_p": "p.Gly2834Ser"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}