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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: 7-29566615-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=29566615&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 29566615,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_175887.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR15",
"gene_hgnc_id": 22310,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "NM_175887.3",
"protein_id": "NP_787083.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 129,
"cds_start": 286,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000319694.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_175887.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR15",
"gene_hgnc_id": 22310,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "ENST00000319694.3",
"protein_id": "ENSP00000317836.2",
"transcript_support_level": 1,
"aa_start": 96,
"aa_end": null,
"aa_length": 129,
"cds_start": 286,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_175887.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000319694.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR15",
"gene_hgnc_id": 22310,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "NM_001329996.2",
"protein_id": "NP_001316925.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 129,
"cds_start": 286,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329996.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR15",
"gene_hgnc_id": 22310,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "NM_001329997.1",
"protein_id": "NP_001316926.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 129,
"cds_start": 286,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329997.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR15",
"gene_hgnc_id": 22310,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "ENST00000878802.1",
"protein_id": "ENSP00000548861.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 129,
"cds_start": 286,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878802.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR15",
"gene_hgnc_id": 22310,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "ENST00000878803.1",
"protein_id": "ENSP00000548862.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 129,
"cds_start": 286,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878803.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR15",
"gene_hgnc_id": 22310,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "ENST00000878804.1",
"protein_id": "ENSP00000548863.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 129,
"cds_start": 286,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878804.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR15",
"gene_hgnc_id": 22310,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "ENST00000878805.1",
"protein_id": "ENSP00000548864.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 129,
"cds_start": 286,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878805.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR15",
"gene_hgnc_id": 22310,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "ENST00000878806.1",
"protein_id": "ENSP00000548865.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 129,
"cds_start": 286,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878806.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR15",
"gene_hgnc_id": 22310,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "ENST00000878807.1",
"protein_id": "ENSP00000548866.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 129,
"cds_start": 286,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878807.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR15",
"gene_hgnc_id": 22310,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "ENST00000878808.1",
"protein_id": "ENSP00000548867.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 129,
"cds_start": 286,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878808.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR15",
"gene_hgnc_id": 22310,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "ENST00000878809.1",
"protein_id": "ENSP00000548868.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 129,
"cds_start": 286,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878809.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR15",
"gene_hgnc_id": 22310,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "ENST00000878810.1",
"protein_id": "ENSP00000548869.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 129,
"cds_start": 286,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878810.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR15",
"gene_hgnc_id": 22310,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "ENST00000878811.1",
"protein_id": "ENSP00000548870.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 129,
"cds_start": 286,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878811.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR15",
"gene_hgnc_id": 22310,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "ENST00000878812.1",
"protein_id": "ENSP00000548871.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 129,
"cds_start": 286,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878812.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR15",
"gene_hgnc_id": 22310,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "ENST00000878813.1",
"protein_id": "ENSP00000548872.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 129,
"cds_start": 286,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878813.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR15",
"gene_hgnc_id": 22310,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "ENST00000878814.1",
"protein_id": "ENSP00000548873.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 129,
"cds_start": 286,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878814.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR15",
"gene_hgnc_id": 22310,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "ENST00000937362.1",
"protein_id": "ENSP00000607421.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 129,
"cds_start": 286,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937362.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR15",
"gene_hgnc_id": 22310,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "ENST00000937363.1",
"protein_id": "ENSP00000607422.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 129,
"cds_start": 286,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937363.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR15",
"gene_hgnc_id": 22310,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "ENST00000967042.1",
"protein_id": "ENSP00000637101.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 129,
"cds_start": 286,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967042.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR15",
"gene_hgnc_id": 22310,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "XM_011515198.2",
"protein_id": "XP_011513500.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 129,
"cds_start": 286,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515198.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR15",
"gene_hgnc_id": 22310,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "XM_011515199.2",
"protein_id": "XP_011513501.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 129,
"cds_start": 286,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515199.2"
},
{
"aa_ref": null,
"aa_alt": null,
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"protein_coding": false,
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{
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],
"gene_symbol": "PRR15",
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"dbsnp": "rs1465072080",
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"hom_count_reference_population": 0,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8563069105148315,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.602,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9479,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.22,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.782,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
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"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_175887.3",
"gene_symbol": "PRR15",
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"effects": [
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],
"inheritance_mode": "AR",
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"hgvs_p": "p.Arg96Cys"
},
{
"score": 4,
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"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000748764.1",
"gene_symbol": "PRR15-DT",
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"effects": [
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],
"inheritance_mode": "",
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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
}