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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: 3-168024959-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=168024959&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 168024959,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_014498.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLIM4",
"gene_hgnc_id": 15448,
"hgvs_c": "c.1760A>G",
"hgvs_p": "p.Gln587Arg",
"transcript": "NM_014498.5",
"protein_id": "NP_055313.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 696,
"cds_start": 1760,
"cds_end": null,
"cds_length": 2091,
"cdna_start": 2399,
"cdna_end": null,
"cdna_length": 4310,
"mane_select": "ENST00000470487.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014498.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLIM4",
"gene_hgnc_id": 15448,
"hgvs_c": "c.1760A>G",
"hgvs_p": "p.Gln587Arg",
"transcript": "ENST00000470487.6",
"protein_id": "ENSP00000417354.1",
"transcript_support_level": 1,
"aa_start": 587,
"aa_end": null,
"aa_length": 696,
"cds_start": 1760,
"cds_end": null,
"cds_length": 2091,
"cdna_start": 2399,
"cdna_end": null,
"cdna_length": 4310,
"mane_select": "NM_014498.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000470487.6"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLIM4",
"gene_hgnc_id": 15448,
"hgvs_c": "c.1676A>G",
"hgvs_p": "p.Gln559Arg",
"transcript": "ENST00000309027.4",
"protein_id": "ENSP00000309893.4",
"transcript_support_level": 1,
"aa_start": 559,
"aa_end": null,
"aa_length": 668,
"cds_start": 1676,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 1735,
"cdna_end": null,
"cdna_length": 2100,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000309027.4"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLIM4",
"gene_hgnc_id": 15448,
"hgvs_c": "c.1760A>G",
"hgvs_p": "p.Gln587Arg",
"transcript": "ENST00000852499.1",
"protein_id": "ENSP00000522558.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 708,
"cds_start": 1760,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 2078,
"cdna_end": null,
"cdna_length": 4033,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852499.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLIM4",
"gene_hgnc_id": 15448,
"hgvs_c": "c.1775A>G",
"hgvs_p": "p.Gln592Arg",
"transcript": "ENST00000852502.1",
"protein_id": "ENSP00000522561.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 701,
"cds_start": 1775,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 2412,
"cdna_end": null,
"cdna_length": 2977,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852502.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLIM4",
"gene_hgnc_id": 15448,
"hgvs_c": "c.1763A>G",
"hgvs_p": "p.Gln588Arg",
"transcript": "ENST00000852503.1",
"protein_id": "ENSP00000522562.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 698,
"cds_start": 1763,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 2402,
"cdna_end": null,
"cdna_length": 2967,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852503.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLIM4",
"gene_hgnc_id": 15448,
"hgvs_c": "c.1763A>G",
"hgvs_p": "p.Gln588Arg",
"transcript": "ENST00000852497.1",
"protein_id": "ENSP00000522556.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 697,
"cds_start": 1763,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 3014,
"cdna_end": null,
"cdna_length": 4942,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852497.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLIM4",
"gene_hgnc_id": 15448,
"hgvs_c": "c.1760A>G",
"hgvs_p": "p.Gln587Arg",
"transcript": "ENST00000852498.1",
"protein_id": "ENSP00000522557.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 697,
"cds_start": 1760,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 2441,
"cdna_end": null,
"cdna_length": 4355,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852498.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLIM4",
"gene_hgnc_id": 15448,
"hgvs_c": "c.1757A>G",
"hgvs_p": "p.Gln586Arg",
"transcript": "ENST00000852507.1",
"protein_id": "ENSP00000522566.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 695,
"cds_start": 1757,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 2050,
"cdna_end": null,
"cdna_length": 2612,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852507.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLIM4",
"gene_hgnc_id": 15448,
"hgvs_c": "c.1754A>G",
"hgvs_p": "p.Gln585Arg",
"transcript": "ENST00000959312.1",
"protein_id": "ENSP00000629371.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 694,
"cds_start": 1754,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 2358,
"cdna_end": null,
"cdna_length": 4272,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959312.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLIM4",
"gene_hgnc_id": 15448,
"hgvs_c": "c.1691A>G",
"hgvs_p": "p.Gln564Arg",
"transcript": "ENST00000959313.1",
"protein_id": "ENSP00000629372.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 673,
"cds_start": 1691,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 2124,
"cdna_end": null,
"cdna_length": 4024,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959313.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLIM4",
"gene_hgnc_id": 15448,
"hgvs_c": "c.1679A>G",
"hgvs_p": "p.Gln560Arg",
"transcript": "ENST00000959315.1",
"protein_id": "ENSP00000629374.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 670,
"cds_start": 1679,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1804,
"cdna_end": null,
"cdna_length": 3405,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959315.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLIM4",
"gene_hgnc_id": 15448,
"hgvs_c": "c.1679A>G",
"hgvs_p": "p.Gln560Arg",
"transcript": "ENST00000852500.1",
"protein_id": "ENSP00000522559.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 669,
"cds_start": 1679,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 2351,
"cdna_end": null,
"cdna_length": 3278,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852500.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLIM4",
"gene_hgnc_id": 15448,
"hgvs_c": "c.1676A>G",
"hgvs_p": "p.Gln559Arg",
"transcript": "ENST00000920079.1",
"protein_id": "ENSP00000590138.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 669,
"cds_start": 1676,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 2346,
"cdna_end": null,
"cdna_length": 2911,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920079.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLIM4",
"gene_hgnc_id": 15448,
"hgvs_c": "c.1676A>G",
"hgvs_p": "p.Gln559Arg",
"transcript": "NM_001308155.2",
"protein_id": "NP_001295084.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 668,
"cds_start": 1676,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 2315,
"cdna_end": null,
"cdna_length": 4226,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308155.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLIM4",
"gene_hgnc_id": 15448,
"hgvs_c": "c.1601A>G",
"hgvs_p": "p.Gln534Arg",
"transcript": "ENST00000852504.1",
"protein_id": "ENSP00000522563.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 643,
"cds_start": 1601,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 2240,
"cdna_end": null,
"cdna_length": 2802,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852504.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLIM4",
"gene_hgnc_id": 15448,
"hgvs_c": "c.1676A>G",
"hgvs_p": "p.Gln559Arg",
"transcript": "ENST00000959314.1",
"protein_id": "ENSP00000629373.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 641,
"cds_start": 1676,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 2315,
"cdna_end": null,
"cdna_length": 3834,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959314.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLIM4",
"gene_hgnc_id": 15448,
"hgvs_c": "c.1520A>G",
"hgvs_p": "p.Gln507Arg",
"transcript": "ENST00000852506.1",
"protein_id": "ENSP00000522565.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 616,
"cds_start": 1520,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 2054,
"cdna_end": null,
"cdna_length": 2616,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852506.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLIM4",
"gene_hgnc_id": 15448,
"hgvs_c": "c.1517A>G",
"hgvs_p": "p.Gln506Arg",
"transcript": "ENST00000852501.1",
"protein_id": "ENSP00000522560.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 615,
"cds_start": 1517,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 2174,
"cdna_end": null,
"cdna_length": 2736,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852501.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLIM4",
"gene_hgnc_id": 15448,
"hgvs_c": "c.1763A>G",
"hgvs_p": "p.Gln588Arg",
"transcript": "XM_005247364.4",
"protein_id": "XP_005247421.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 697,
"cds_start": 1763,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 2402,
"cdna_end": null,
"cdna_length": 4313,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005247364.4"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLIM4",
"gene_hgnc_id": 15448,
"hgvs_c": "c.1679A>G",
"hgvs_p": "p.Gln560Arg",
"transcript": "XM_005247365.4",
"protein_id": "XP_005247422.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 669,
"cds_start": 1679,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 2318,
"cdna_end": null,
"cdna_length": 4229,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005247365.4"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLIM4",
"gene_hgnc_id": 15448,
"hgvs_c": "c.1406A>G",
"hgvs_p": "p.Gln469Arg",
"transcript": "XM_047447978.1",
"protein_id": "XP_047303934.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 578,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1691,
"cdna_end": null,
"cdna_length": 3602,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447978.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "GOLIM4",
"gene_hgnc_id": 15448,
"hgvs_c": "c.843+11877A>G",
"hgvs_p": null,
"transcript": "ENST00000852505.1",
"protein_id": "ENSP00000522564.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 357,
"cds_start": null,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1923,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852505.1"
}
],
"gene_symbol": "GOLIM4",
"gene_hgnc_id": 15448,
"dbsnp": "rs201418456",
"frequency_reference_population": 0.00019268945,
"hom_count_reference_population": 0,
"allele_count_reference_population": 311,
"gnomad_exomes_af": 0.000199075,
"gnomad_genomes_af": 0.000131378,
"gnomad_exomes_ac": 291,
"gnomad_genomes_ac": 20,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.057702988386154175,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.087,
"revel_prediction": "Benign",
"alphamissense_score": 0.0784,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.092,
"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": -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_014498.5",
"gene_symbol": "GOLIM4",
"hgnc_id": 15448,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1760A>G",
"hgvs_p": "p.Gln587Arg"
}
],
"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
}