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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: 6-83110193-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=83110193&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 83110193,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001199942.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOP1A",
"gene_hgnc_id": 21194,
"hgvs_c": "c.560G>A",
"hgvs_p": "p.Gly187Asp",
"transcript": "NM_015018.4",
"protein_id": "NP_055833.2",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 2465,
"cds_start": 560,
"cds_end": null,
"cds_length": 7398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000349129.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015018.4"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOP1A",
"gene_hgnc_id": 21194,
"hgvs_c": "c.560G>A",
"hgvs_p": "p.Gly187Asp",
"transcript": "ENST00000349129.7",
"protein_id": "ENSP00000195654.3",
"transcript_support_level": 1,
"aa_start": 187,
"aa_end": null,
"aa_length": 2465,
"cds_start": 560,
"cds_end": null,
"cds_length": 7398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015018.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349129.7"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOP1A",
"gene_hgnc_id": 21194,
"hgvs_c": "c.560G>A",
"hgvs_p": "p.Gly187Asp",
"transcript": "ENST00000369739.7",
"protein_id": "ENSP00000358754.3",
"transcript_support_level": 1,
"aa_start": 187,
"aa_end": null,
"aa_length": 2476,
"cds_start": 560,
"cds_end": null,
"cds_length": 7431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369739.7"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOP1A",
"gene_hgnc_id": 21194,
"hgvs_c": "c.560G>A",
"hgvs_p": "p.Gly187Asp",
"transcript": "NM_001199942.2",
"protein_id": "NP_001186871.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 2476,
"cds_start": 560,
"cds_end": null,
"cds_length": 7431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199942.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOP1A",
"gene_hgnc_id": 21194,
"hgvs_c": "c.560G>A",
"hgvs_p": "p.Gly187Asp",
"transcript": "NM_001385863.1",
"protein_id": "NP_001372792.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 2476,
"cds_start": 560,
"cds_end": null,
"cds_length": 7431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385863.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOP1A",
"gene_hgnc_id": 21194,
"hgvs_c": "c.560G>A",
"hgvs_p": "p.Gly187Asp",
"transcript": "ENST00000237163.9",
"protein_id": "ENSP00000237163.6",
"transcript_support_level": 5,
"aa_start": 187,
"aa_end": null,
"aa_length": 2476,
"cds_start": 560,
"cds_end": null,
"cds_length": 7431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000237163.9"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOP1A",
"gene_hgnc_id": 21194,
"hgvs_c": "c.560G>A",
"hgvs_p": "p.Gly187Asp",
"transcript": "NM_001385865.1",
"protein_id": "NP_001372794.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 2456,
"cds_start": 560,
"cds_end": null,
"cds_length": 7371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385865.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOP1A",
"gene_hgnc_id": 21194,
"hgvs_c": "c.560G>A",
"hgvs_p": "p.Gly187Asp",
"transcript": "NM_001385856.1",
"protein_id": "NP_001372785.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 2455,
"cds_start": 560,
"cds_end": null,
"cds_length": 7368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385856.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOP1A",
"gene_hgnc_id": 21194,
"hgvs_c": "c.560G>A",
"hgvs_p": "p.Gly187Asp",
"transcript": "NM_001385857.1",
"protein_id": "NP_001372786.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 2455,
"cds_start": 560,
"cds_end": null,
"cds_length": 7368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385857.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOP1A",
"gene_hgnc_id": 21194,
"hgvs_c": "c.560G>A",
"hgvs_p": "p.Gly187Asp",
"transcript": "NM_001385860.1",
"protein_id": "NP_001372789.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 2455,
"cds_start": 560,
"cds_end": null,
"cds_length": 7368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385860.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOP1A",
"gene_hgnc_id": 21194,
"hgvs_c": "c.560G>A",
"hgvs_p": "p.Gly187Asp",
"transcript": "NM_001385861.1",
"protein_id": "NP_001372790.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 2455,
"cds_start": 560,
"cds_end": null,
"cds_length": 7368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385861.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOP1A",
"gene_hgnc_id": 21194,
"hgvs_c": "c.206G>A",
"hgvs_p": "p.Gly69Asp",
"transcript": "NM_001385858.1",
"protein_id": "NP_001372787.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 2269,
"cds_start": 206,
"cds_end": null,
"cds_length": 6810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385858.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOP1A",
"gene_hgnc_id": 21194,
"hgvs_c": "c.560G>A",
"hgvs_p": "p.Gly187Asp",
"transcript": "XM_017010559.2",
"protein_id": "XP_016866048.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 2485,
"cds_start": 560,
"cds_end": null,
"cds_length": 7458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010559.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOP1A",
"gene_hgnc_id": 21194,
"hgvs_c": "c.560G>A",
"hgvs_p": "p.Gly187Asp",
"transcript": "XM_017010560.3",
"protein_id": "XP_016866049.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 2485,
"cds_start": 560,
"cds_end": null,
"cds_length": 7458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010560.3"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOP1A",
"gene_hgnc_id": 21194,
"hgvs_c": "c.560G>A",
"hgvs_p": "p.Gly187Asp",
"transcript": "XM_047418428.1",
"protein_id": "XP_047274384.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 2485,
"cds_start": 560,
"cds_end": null,
"cds_length": 7458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418428.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOP1A",
"gene_hgnc_id": 21194,
"hgvs_c": "c.560G>A",
"hgvs_p": "p.Gly187Asp",
"transcript": "XM_017010561.2",
"protein_id": "XP_016866050.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 2476,
"cds_start": 560,
"cds_end": null,
"cds_length": 7431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010561.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOP1A",
"gene_hgnc_id": 21194,
"hgvs_c": "c.560G>A",
"hgvs_p": "p.Gly187Asp",
"transcript": "XM_017010562.3",
"protein_id": "XP_016866051.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 2476,
"cds_start": 560,
"cds_end": null,
"cds_length": 7431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010562.3"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOP1A",
"gene_hgnc_id": 21194,
"hgvs_c": "c.560G>A",
"hgvs_p": "p.Gly187Asp",
"transcript": "XM_011535619.3",
"protein_id": "XP_011533921.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 2475,
"cds_start": 560,
"cds_end": null,
"cds_length": 7428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535619.3"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOP1A",
"gene_hgnc_id": 21194,
"hgvs_c": "c.560G>A",
"hgvs_p": "p.Gly187Asp",
"transcript": "XM_047418430.1",
"protein_id": "XP_047274386.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 2475,
"cds_start": 560,
"cds_end": null,
"cds_length": 7428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418430.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOP1A",
"gene_hgnc_id": 21194,
"hgvs_c": "c.560G>A",
"hgvs_p": "p.Gly187Asp",
"transcript": "XM_047418431.1",
"protein_id": "XP_047274387.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 2475,
"cds_start": 560,
"cds_end": null,
"cds_length": 7428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418431.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOP1A",
"gene_hgnc_id": 21194,
"hgvs_c": "c.560G>A",
"hgvs_p": "p.Gly187Asp",
"transcript": "XM_047418432.1",
"protein_id": "XP_047274388.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 2466,
"cds_start": 560,
"cds_end": null,
"cds_length": 7401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418432.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOP1A",
"gene_hgnc_id": 21194,
"hgvs_c": "c.560G>A",
"hgvs_p": "p.Gly187Asp",
"transcript": "XM_017010564.2",
"protein_id": "XP_016866053.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 2465,
"cds_start": 560,
"cds_end": null,
"cds_length": 7398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": 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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"biotype": "pseudogene",
"feature": "NR_169790.1"
},
{
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],
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"biotype": "pseudogene",
"feature": "NR_169791.1"
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],
"gene_symbol": "DOP1A",
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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": 0.8888063430786133,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.1599999964237213,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.509,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9844,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.457,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.16,
"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": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001199942.2",
"gene_symbol": "DOP1A",
"hgnc_id": 21194,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.560G>A",
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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
}