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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: 3-48974968-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=48974968&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 48974968,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001349213.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH2",
"gene_hgnc_id": 690,
"hgvs_c": "c.950A>G",
"hgvs_p": "p.Lys317Arg",
"transcript": "NM_006321.4",
"protein_id": "NP_006312.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 493,
"cds_start": 950,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356401.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006321.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH2",
"gene_hgnc_id": 690,
"hgvs_c": "c.950A>G",
"hgvs_p": "p.Lys317Arg",
"transcript": "ENST00000356401.9",
"protein_id": "ENSP00000348769.4",
"transcript_support_level": 1,
"aa_start": 317,
"aa_end": null,
"aa_length": 493,
"cds_start": 950,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006321.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356401.9"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH2",
"gene_hgnc_id": 690,
"hgvs_c": "c.950A>G",
"hgvs_p": "p.Lys317Arg",
"transcript": "ENST00000449376.5",
"protein_id": "ENSP00000403222.1",
"transcript_support_level": 1,
"aa_start": 317,
"aa_end": null,
"aa_length": 493,
"cds_start": 950,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449376.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH2",
"gene_hgnc_id": 690,
"hgvs_c": "c.950A>G",
"hgvs_p": "p.Lys317Arg",
"transcript": "ENST00000972221.1",
"protein_id": "ENSP00000642280.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 523,
"cds_start": 950,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972221.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH2",
"gene_hgnc_id": 690,
"hgvs_c": "c.950A>G",
"hgvs_p": "p.Lys317Arg",
"transcript": "NM_001349213.2",
"protein_id": "NP_001336142.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 516,
"cds_start": 950,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349213.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH2",
"gene_hgnc_id": 690,
"hgvs_c": "c.950A>G",
"hgvs_p": "p.Lys317Arg",
"transcript": "NM_001349214.2",
"protein_id": "NP_001336143.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 516,
"cds_start": 950,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349214.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH2",
"gene_hgnc_id": 690,
"hgvs_c": "c.950A>G",
"hgvs_p": "p.Lys317Arg",
"transcript": "ENST00000907509.1",
"protein_id": "ENSP00000577568.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 516,
"cds_start": 950,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907509.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH2",
"gene_hgnc_id": 690,
"hgvs_c": "c.950A>G",
"hgvs_p": "p.Lys317Arg",
"transcript": "ENST00000907514.1",
"protein_id": "ENSP00000577573.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 516,
"cds_start": 950,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907514.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH2",
"gene_hgnc_id": 690,
"hgvs_c": "c.950A>G",
"hgvs_p": "p.Lys317Arg",
"transcript": "ENST00000907520.1",
"protein_id": "ENSP00000577579.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 516,
"cds_start": 950,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907520.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH2",
"gene_hgnc_id": 690,
"hgvs_c": "c.950A>G",
"hgvs_p": "p.Lys317Arg",
"transcript": "ENST00000907521.1",
"protein_id": "ENSP00000577580.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 516,
"cds_start": 950,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907521.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH2",
"gene_hgnc_id": 690,
"hgvs_c": "c.950A>G",
"hgvs_p": "p.Lys317Arg",
"transcript": "ENST00000913588.1",
"protein_id": "ENSP00000583647.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 516,
"cds_start": 950,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913588.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH2",
"gene_hgnc_id": 690,
"hgvs_c": "c.950A>G",
"hgvs_p": "p.Lys317Arg",
"transcript": "ENST00000972216.1",
"protein_id": "ENSP00000642275.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 516,
"cds_start": 950,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972216.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH2",
"gene_hgnc_id": 690,
"hgvs_c": "c.950A>G",
"hgvs_p": "p.Lys317Arg",
"transcript": "ENST00000972220.1",
"protein_id": "ENSP00000642279.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 516,
"cds_start": 950,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972220.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH2",
"gene_hgnc_id": 690,
"hgvs_c": "c.950A>G",
"hgvs_p": "p.Lys317Arg",
"transcript": "ENST00000972226.1",
"protein_id": "ENSP00000642285.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 516,
"cds_start": 950,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972226.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH2",
"gene_hgnc_id": 690,
"hgvs_c": "c.1019A>G",
"hgvs_p": "p.Lys340Arg",
"transcript": "ENST00000972227.1",
"protein_id": "ENSP00000642286.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 516,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972227.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH2",
"gene_hgnc_id": 690,
"hgvs_c": "c.950A>G",
"hgvs_p": "p.Lys317Arg",
"transcript": "ENST00000972233.1",
"protein_id": "ENSP00000642292.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 516,
"cds_start": 950,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972233.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH2",
"gene_hgnc_id": 690,
"hgvs_c": "c.968A>G",
"hgvs_p": "p.Lys323Arg",
"transcript": "ENST00000972218.1",
"protein_id": "ENSP00000642277.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 499,
"cds_start": 968,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972218.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH2",
"gene_hgnc_id": 690,
"hgvs_c": "c.950A>G",
"hgvs_p": "p.Lys317Arg",
"transcript": "NM_001317333.2",
"protein_id": "NP_001304262.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 493,
"cds_start": 950,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317333.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH2",
"gene_hgnc_id": 690,
"hgvs_c": "c.950A>G",
"hgvs_p": "p.Lys317Arg",
"transcript": "NM_001349209.2",
"protein_id": "NP_001336138.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 493,
"cds_start": 950,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349209.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH2",
"gene_hgnc_id": 690,
"hgvs_c": "c.950A>G",
"hgvs_p": "p.Lys317Arg",
"transcript": "NM_001349210.2",
"protein_id": "NP_001336139.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 493,
"cds_start": 950,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349210.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH2",
"gene_hgnc_id": 690,
"hgvs_c": "c.950A>G",
"hgvs_p": "p.Lys317Arg",
"transcript": "NM_001349211.2",
"protein_id": "NP_001336140.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 493,
"cds_start": 950,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349211.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH2",
"gene_hgnc_id": 690,
"hgvs_c": "c.950A>G",
"hgvs_p": "p.Lys317Arg",
"transcript": "ENST00000907507.1",
"protein_id": "ENSP00000577566.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 493,
"cds_start": 950,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907507.1"
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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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"consequences": [
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],
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"biotype": "pseudogene",
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],
"gene_symbol": "ARIH2",
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"dbsnp": "rs370396255",
"frequency_reference_population": 0.0000030977437,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000136809,
"gnomad_genomes_af": 0.0000197127,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5754290819168091,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10000000149011612,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.406,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1058,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.427,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.1,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001349213.2",
"gene_symbol": "ARIH2",
"hgnc_id": 690,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.950A>G",
"hgvs_p": "p.Lys317Arg"
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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
}