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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: 11-72755753-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=72755753&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 72755753,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_006645.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD10",
"gene_hgnc_id": 10666,
"hgvs_c": "c.578G>A",
"hgvs_p": "p.Gly193Asp",
"transcript": "NM_006645.3",
"protein_id": "NP_006636.2",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 291,
"cds_start": 578,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000334805.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006645.3"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD10",
"gene_hgnc_id": 10666,
"hgvs_c": "c.578G>A",
"hgvs_p": "p.Gly193Asp",
"transcript": "ENST00000334805.11",
"protein_id": "ENSP00000335247.6",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 291,
"cds_start": 578,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006645.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334805.11"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD10",
"gene_hgnc_id": 10666,
"hgvs_c": "c.578G>A",
"hgvs_p": "p.Gly193Asp",
"transcript": "ENST00000543304.5",
"protein_id": "ENSP00000438792.1",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 291,
"cds_start": 578,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543304.5"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD10",
"gene_hgnc_id": 10666,
"hgvs_c": "c.440G>A",
"hgvs_p": "p.Gly147Asp",
"transcript": "ENST00000538536.5",
"protein_id": "ENSP00000440016.1",
"transcript_support_level": 1,
"aa_start": 147,
"aa_end": null,
"aa_length": 245,
"cds_start": 440,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538536.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD10",
"gene_hgnc_id": 10666,
"hgvs_c": "n.174G>A",
"hgvs_p": null,
"transcript": "ENST00000543089.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000543089.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD10",
"gene_hgnc_id": 10666,
"hgvs_c": "c.578G>A",
"hgvs_p": "p.Gly193Asp",
"transcript": "ENST00000888238.1",
"protein_id": "ENSP00000558297.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 291,
"cds_start": 578,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888238.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD10",
"gene_hgnc_id": 10666,
"hgvs_c": "c.578G>A",
"hgvs_p": "p.Gly193Asp",
"transcript": "ENST00000888240.1",
"protein_id": "ENSP00000558299.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 291,
"cds_start": 578,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888240.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD10",
"gene_hgnc_id": 10666,
"hgvs_c": "c.578G>A",
"hgvs_p": "p.Gly193Asp",
"transcript": "ENST00000888241.1",
"protein_id": "ENSP00000558300.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 291,
"cds_start": 578,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888241.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD10",
"gene_hgnc_id": 10666,
"hgvs_c": "c.578G>A",
"hgvs_p": "p.Gly193Asp",
"transcript": "ENST00000888242.1",
"protein_id": "ENSP00000558301.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 291,
"cds_start": 578,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888242.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD10",
"gene_hgnc_id": 10666,
"hgvs_c": "c.578G>A",
"hgvs_p": "p.Gly193Asp",
"transcript": "ENST00000888243.1",
"protein_id": "ENSP00000558302.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 291,
"cds_start": 578,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888243.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD10",
"gene_hgnc_id": 10666,
"hgvs_c": "c.578G>A",
"hgvs_p": "p.Gly193Asp",
"transcript": "ENST00000888245.1",
"protein_id": "ENSP00000558304.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 291,
"cds_start": 578,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888245.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD10",
"gene_hgnc_id": 10666,
"hgvs_c": "c.578G>A",
"hgvs_p": "p.Gly193Asp",
"transcript": "ENST00000888246.1",
"protein_id": "ENSP00000558305.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 291,
"cds_start": 578,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888246.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD10",
"gene_hgnc_id": 10666,
"hgvs_c": "c.578G>A",
"hgvs_p": "p.Gly193Asp",
"transcript": "ENST00000888252.1",
"protein_id": "ENSP00000558311.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 291,
"cds_start": 578,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888252.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD10",
"gene_hgnc_id": 10666,
"hgvs_c": "c.578G>A",
"hgvs_p": "p.Gly193Asp",
"transcript": "ENST00000888253.1",
"protein_id": "ENSP00000558312.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 291,
"cds_start": 578,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888253.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD10",
"gene_hgnc_id": 10666,
"hgvs_c": "c.578G>A",
"hgvs_p": "p.Gly193Asp",
"transcript": "ENST00000888255.1",
"protein_id": "ENSP00000558314.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 291,
"cds_start": 578,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888255.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD10",
"gene_hgnc_id": 10666,
"hgvs_c": "c.578G>A",
"hgvs_p": "p.Gly193Asp",
"transcript": "ENST00000888260.1",
"protein_id": "ENSP00000558319.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 291,
"cds_start": 578,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888260.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD10",
"gene_hgnc_id": 10666,
"hgvs_c": "c.578G>A",
"hgvs_p": "p.Gly193Asp",
"transcript": "ENST00000888261.1",
"protein_id": "ENSP00000558320.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 291,
"cds_start": 578,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888261.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD10",
"gene_hgnc_id": 10666,
"hgvs_c": "c.578G>A",
"hgvs_p": "p.Gly193Asp",
"transcript": "ENST00000953908.1",
"protein_id": "ENSP00000623967.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 291,
"cds_start": 578,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953908.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD10",
"gene_hgnc_id": 10666,
"hgvs_c": "c.578G>A",
"hgvs_p": "p.Gly193Asp",
"transcript": "ENST00000953909.1",
"protein_id": "ENSP00000623968.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 291,
"cds_start": 578,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953909.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD10",
"gene_hgnc_id": 10666,
"hgvs_c": "c.491G>A",
"hgvs_p": "p.Gly164Asp",
"transcript": "ENST00000545082.5",
"protein_id": "ENSP00000443548.1",
"transcript_support_level": 3,
"aa_start": 164,
"aa_end": null,
"aa_length": 262,
"cds_start": 491,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545082.5"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD10",
"gene_hgnc_id": 10666,
"hgvs_c": "c.491G>A",
"hgvs_p": "p.Gly164Asp",
"transcript": "ENST00000888244.1",
"protein_id": "ENSP00000558303.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 262,
"cds_start": 491,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888244.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD10",
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD10",
"gene_hgnc_id": 10666,
"hgvs_c": "n.395G>A",
"hgvs_p": null,
"transcript": "ENST00000538437.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000538437.5"
}
],
"gene_symbol": "STARD10",
"gene_hgnc_id": 10666,
"dbsnp": "rs370159113",
"frequency_reference_population": 0.000004963666,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000479597,
"gnomad_genomes_af": 0.00000657237,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9677088856697083,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.7699999809265137,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.767,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9984,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.22,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.729,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.996710374576263,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006645.3",
"gene_symbol": "STARD10",
"hgnc_id": 10666,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.578G>A",
"hgvs_p": "p.Gly193Asp"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000359373.9",
"gene_symbol": "ARAP1",
"hgnc_id": 16925,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-127-23156G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}