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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: 5-95464647-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=95464647&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 95464647,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_014639.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "c.4655C>G",
"hgvs_p": "p.Thr1552Arg",
"transcript": "NM_014639.4",
"protein_id": "NP_055454.1",
"transcript_support_level": null,
"aa_start": 1552,
"aa_end": null,
"aa_length": 1564,
"cds_start": 4655,
"cds_end": null,
"cds_length": 4695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358746.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014639.4"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "c.4655C>G",
"hgvs_p": "p.Thr1552Arg",
"transcript": "ENST00000358746.7",
"protein_id": "ENSP00000351596.3",
"transcript_support_level": 1,
"aa_start": 1552,
"aa_end": null,
"aa_length": 1564,
"cds_start": 4655,
"cds_end": null,
"cds_length": 4695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014639.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358746.7"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "c.4712C>G",
"hgvs_p": "p.Thr1571Arg",
"transcript": "ENST00000969289.1",
"protein_id": "ENSP00000639348.1",
"transcript_support_level": null,
"aa_start": 1571,
"aa_end": null,
"aa_length": 1583,
"cds_start": 4712,
"cds_end": null,
"cds_length": 4752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969289.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "c.4697C>G",
"hgvs_p": "p.Thr1566Arg",
"transcript": "ENST00000698479.1",
"protein_id": "ENSP00000513748.1",
"transcript_support_level": null,
"aa_start": 1566,
"aa_end": null,
"aa_length": 1578,
"cds_start": 4697,
"cds_end": null,
"cds_length": 4737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698479.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "c.4673C>G",
"hgvs_p": "p.Thr1558Arg",
"transcript": "ENST00000918735.1",
"protein_id": "ENSP00000588794.1",
"transcript_support_level": null,
"aa_start": 1558,
"aa_end": null,
"aa_length": 1570,
"cds_start": 4673,
"cds_end": null,
"cds_length": 4713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918735.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "c.4655C>G",
"hgvs_p": "p.Thr1552Arg",
"transcript": "ENST00000649566.1",
"protein_id": "ENSP00000497948.1",
"transcript_support_level": null,
"aa_start": 1552,
"aa_end": null,
"aa_length": 1564,
"cds_start": 4655,
"cds_end": null,
"cds_length": 4695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649566.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "c.4655C>G",
"hgvs_p": "p.Thr1552Arg",
"transcript": "ENST00000901193.1",
"protein_id": "ENSP00000571252.1",
"transcript_support_level": null,
"aa_start": 1552,
"aa_end": null,
"aa_length": 1564,
"cds_start": 4655,
"cds_end": null,
"cds_length": 4695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901193.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "c.4655C>G",
"hgvs_p": "p.Thr1552Arg",
"transcript": "ENST00000918736.1",
"protein_id": "ENSP00000588795.1",
"transcript_support_level": null,
"aa_start": 1552,
"aa_end": null,
"aa_length": 1564,
"cds_start": 4655,
"cds_end": null,
"cds_length": 4695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918736.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "c.4655C>G",
"hgvs_p": "p.Thr1552Arg",
"transcript": "ENST00000918737.1",
"protein_id": "ENSP00000588796.1",
"transcript_support_level": null,
"aa_start": 1552,
"aa_end": null,
"aa_length": 1564,
"cds_start": 4655,
"cds_end": null,
"cds_length": 4695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918737.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "c.4655C>G",
"hgvs_p": "p.Thr1552Arg",
"transcript": "ENST00000969290.1",
"protein_id": "ENSP00000639349.1",
"transcript_support_level": null,
"aa_start": 1552,
"aa_end": null,
"aa_length": 1564,
"cds_start": 4655,
"cds_end": null,
"cds_length": 4695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969290.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "c.4652C>G",
"hgvs_p": "p.Thr1551Arg",
"transcript": "ENST00000901192.1",
"protein_id": "ENSP00000571251.1",
"transcript_support_level": null,
"aa_start": 1551,
"aa_end": null,
"aa_length": 1563,
"cds_start": 4652,
"cds_end": null,
"cds_length": 4692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901192.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "c.4649C>G",
"hgvs_p": "p.Thr1550Arg",
"transcript": "ENST00000698487.1",
"protein_id": "ENSP00000513753.1",
"transcript_support_level": null,
"aa_start": 1550,
"aa_end": null,
"aa_length": 1562,
"cds_start": 4649,
"cds_end": null,
"cds_length": 4689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698487.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "c.4646C>G",
"hgvs_p": "p.Thr1549Arg",
"transcript": "ENST00000698454.1",
"protein_id": "ENSP00000513736.1",
"transcript_support_level": null,
"aa_start": 1549,
"aa_end": null,
"aa_length": 1561,
"cds_start": 4646,
"cds_end": null,
"cds_length": 4686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698454.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "c.4646C>G",
"hgvs_p": "p.Thr1549Arg",
"transcript": "ENST00000698490.1",
"protein_id": "ENSP00000513755.1",
"transcript_support_level": null,
"aa_start": 1549,
"aa_end": null,
"aa_length": 1561,
"cds_start": 4646,
"cds_end": null,
"cds_length": 4686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698490.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "c.4514C>G",
"hgvs_p": "p.Thr1505Arg",
"transcript": "ENST00000969288.1",
"protein_id": "ENSP00000639347.1",
"transcript_support_level": null,
"aa_start": 1505,
"aa_end": null,
"aa_length": 1517,
"cds_start": 4514,
"cds_end": null,
"cds_length": 4554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969288.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "c.4445C>G",
"hgvs_p": "p.Thr1482Arg",
"transcript": "ENST00000698457.1",
"protein_id": "ENSP00000513739.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 1494,
"cds_start": 4445,
"cds_end": null,
"cds_length": 4485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698457.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "c.4307C>G",
"hgvs_p": "p.Thr1436Arg",
"transcript": "ENST00000969287.1",
"protein_id": "ENSP00000639346.1",
"transcript_support_level": null,
"aa_start": 1436,
"aa_end": null,
"aa_length": 1448,
"cds_start": 4307,
"cds_end": null,
"cds_length": 4347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969287.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "c.4655C>G",
"hgvs_p": "p.Thr1552Arg",
"transcript": "XM_047417937.1",
"protein_id": "XP_047273893.1",
"transcript_support_level": null,
"aa_start": 1552,
"aa_end": null,
"aa_length": 1564,
"cds_start": 4655,
"cds_end": null,
"cds_length": 4695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417937.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "n.6147C>G",
"hgvs_p": null,
"transcript": "ENST00000506007.2",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000506007.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "n.*3478C>G",
"hgvs_p": null,
"transcript": "ENST00000513232.2",
"protein_id": "ENSP00000422749.2",
"transcript_support_level": 3,
"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": "ENST00000513232.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "n.4039C>G",
"hgvs_p": null,
"transcript": "ENST00000698450.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000698450.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "n.4325C>G",
"hgvs_p": null,
"transcript": "ENST00000698451.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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{
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{
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{
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{
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{
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{
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{
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],
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"gene_symbol": "SKIC3",
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"transcript": "ENST00000698492.1",
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],
"gene_symbol": "SKIC3",
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"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13214203715324402,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.118,
"revel_prediction": "Benign",
"alphamissense_score": 0.0675,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.702,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014639.4",
"gene_symbol": "SKIC3",
"hgnc_id": 23639,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4655C>G",
"hgvs_p": "p.Thr1552Arg"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}