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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: 16-89885886-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=89885886&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 89885886,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014972.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF25",
"gene_hgnc_id": 29181,
"hgvs_c": "c.468G>T",
"hgvs_p": "p.Arg156Ser",
"transcript": "NM_014972.3",
"protein_id": "NP_055787.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 676,
"cds_start": 468,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263346.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014972.3"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF25",
"gene_hgnc_id": 29181,
"hgvs_c": "c.468G>T",
"hgvs_p": "p.Arg156Ser",
"transcript": "ENST00000263346.13",
"protein_id": "ENSP00000263346.8",
"transcript_support_level": 1,
"aa_start": 156,
"aa_end": null,
"aa_length": 676,
"cds_start": 468,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014972.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263346.13"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF25",
"gene_hgnc_id": 29181,
"hgvs_c": "c.51G>T",
"hgvs_p": "p.Arg17Ser",
"transcript": "ENST00000562256.5",
"protein_id": "ENSP00000455611.1",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 569,
"cds_start": 51,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562256.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF25",
"gene_hgnc_id": 29181,
"hgvs_c": "c.468G>T",
"hgvs_p": "p.Arg156Ser",
"transcript": "ENST00000856681.1",
"protein_id": "ENSP00000526740.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 743,
"cds_start": 468,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856681.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF25",
"gene_hgnc_id": 29181,
"hgvs_c": "c.468G>T",
"hgvs_p": "p.Arg156Ser",
"transcript": "ENST00000940255.1",
"protein_id": "ENSP00000610314.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 724,
"cds_start": 468,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940255.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF25",
"gene_hgnc_id": 29181,
"hgvs_c": "c.468G>T",
"hgvs_p": "p.Arg156Ser",
"transcript": "ENST00000856680.1",
"protein_id": "ENSP00000526739.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 720,
"cds_start": 468,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856680.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF25",
"gene_hgnc_id": 29181,
"hgvs_c": "c.468G>T",
"hgvs_p": "p.Arg156Ser",
"transcript": "ENST00000856677.1",
"protein_id": "ENSP00000526736.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 681,
"cds_start": 468,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856677.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF25",
"gene_hgnc_id": 29181,
"hgvs_c": "c.468G>T",
"hgvs_p": "p.Arg156Ser",
"transcript": "ENST00000943600.1",
"protein_id": "ENSP00000613659.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 675,
"cds_start": 468,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943600.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF25",
"gene_hgnc_id": 29181,
"hgvs_c": "c.468G>T",
"hgvs_p": "p.Arg156Ser",
"transcript": "ENST00000943601.1",
"protein_id": "ENSP00000613660.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 674,
"cds_start": 468,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943601.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF25",
"gene_hgnc_id": 29181,
"hgvs_c": "c.468G>T",
"hgvs_p": "p.Arg156Ser",
"transcript": "ENST00000943606.1",
"protein_id": "ENSP00000613665.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 672,
"cds_start": 468,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943606.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF25",
"gene_hgnc_id": 29181,
"hgvs_c": "c.468G>T",
"hgvs_p": "p.Arg156Ser",
"transcript": "ENST00000856679.1",
"protein_id": "ENSP00000526738.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 666,
"cds_start": 468,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856679.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF25",
"gene_hgnc_id": 29181,
"hgvs_c": "c.468G>T",
"hgvs_p": "p.Arg156Ser",
"transcript": "ENST00000856678.1",
"protein_id": "ENSP00000526737.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 661,
"cds_start": 468,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856678.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF25",
"gene_hgnc_id": 29181,
"hgvs_c": "c.468G>T",
"hgvs_p": "p.Arg156Ser",
"transcript": "ENST00000943607.1",
"protein_id": "ENSP00000613666.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 660,
"cds_start": 468,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943607.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF25",
"gene_hgnc_id": 29181,
"hgvs_c": "c.468G>T",
"hgvs_p": "p.Arg156Ser",
"transcript": "ENST00000943599.1",
"protein_id": "ENSP00000613658.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 657,
"cds_start": 468,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943599.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF25",
"gene_hgnc_id": 29181,
"hgvs_c": "c.468G>T",
"hgvs_p": "p.Arg156Ser",
"transcript": "ENST00000943602.1",
"protein_id": "ENSP00000613661.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 652,
"cds_start": 468,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943602.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF25",
"gene_hgnc_id": 29181,
"hgvs_c": "c.468G>T",
"hgvs_p": "p.Arg156Ser",
"transcript": "ENST00000943605.1",
"protein_id": "ENSP00000613664.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 651,
"cds_start": 468,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943605.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF25",
"gene_hgnc_id": 29181,
"hgvs_c": "c.468G>T",
"hgvs_p": "p.Arg156Ser",
"transcript": "ENST00000940258.1",
"protein_id": "ENSP00000610317.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 637,
"cds_start": 468,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940258.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF25",
"gene_hgnc_id": 29181,
"hgvs_c": "c.468G>T",
"hgvs_p": "p.Arg156Ser",
"transcript": "ENST00000940257.1",
"protein_id": "ENSP00000610316.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 628,
"cds_start": 468,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940257.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF25",
"gene_hgnc_id": 29181,
"hgvs_c": "c.468G>T",
"hgvs_p": "p.Arg156Ser",
"transcript": "ENST00000943604.1",
"protein_id": "ENSP00000613663.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 623,
"cds_start": 468,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943604.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF25",
"gene_hgnc_id": 29181,
"hgvs_c": "c.468G>T",
"hgvs_p": "p.Arg156Ser",
"transcript": "ENST00000940256.1",
"protein_id": "ENSP00000610315.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 619,
"cds_start": 468,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940256.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF25",
"gene_hgnc_id": 29181,
"hgvs_c": "c.468G>T",
"hgvs_p": "p.Arg156Ser",
"transcript": "ENST00000943603.1",
"protein_id": "ENSP00000613662.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 540,
"cds_start": 468,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943603.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF25",
"gene_hgnc_id": 29181,
"hgvs_c": "c.468G>T",
"hgvs_p": "p.Arg156Ser",
"transcript": "ENST00000568412.5",
"protein_id": "ENSP00000457329.1",
"transcript_support_level": 3,
"aa_start": 156,
"aa_end": null,
"aa_length": 264,
"cds_start": 468,
"cds_end": null,
"cds_length": 797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000568412.5"
},
{
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"aa_alt": "S",
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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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],
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"biotype": "nonsense_mediated_decay",
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],
"gene_symbol": "TCF25",
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"dbsnp": "rs751012269",
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"hom_count_reference_population": 0,
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"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13419407606124878,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.108,
"revel_prediction": "Benign",
"alphamissense_score": 0.2626,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.848,
"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": 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_014972.3",
"gene_symbol": "TCF25",
"hgnc_id": 29181,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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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
}