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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: 13-113495720-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=113495720&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 113495720,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_017905.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9D1",
"gene_hgnc_id": 20329,
"hgvs_c": "c.139C>T",
"hgvs_p": "p.Arg47Trp",
"transcript": "NM_017905.6",
"protein_id": "NP_060375.4",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 677,
"cds_start": 139,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000434316.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017905.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO3",
"gene_hgnc_id": 20329,
"hgvs_c": "c.139C>T",
"hgvs_p": "p.Arg47Trp",
"transcript": "ENST00000434316.7",
"protein_id": "ENSP00000389399.2",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 677,
"cds_start": 139,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017905.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434316.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO3",
"gene_hgnc_id": 20329,
"hgvs_c": "c.139C>T",
"hgvs_p": "p.Arg47Trp",
"transcript": "ENST00000375391.5",
"protein_id": "ENSP00000364540.1",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 414,
"cds_start": 139,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375391.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO3",
"gene_hgnc_id": 20329,
"hgvs_c": "c.139C>T",
"hgvs_p": "p.Arg47Trp",
"transcript": "ENST00000955127.1",
"protein_id": "ENSP00000625186.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 684,
"cds_start": 139,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955127.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO3",
"gene_hgnc_id": 20329,
"hgvs_c": "c.139C>T",
"hgvs_p": "p.Arg47Trp",
"transcript": "ENST00000955128.1",
"protein_id": "ENSP00000625187.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 679,
"cds_start": 139,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955128.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO3",
"gene_hgnc_id": 20329,
"hgvs_c": "c.139C>T",
"hgvs_p": "p.Arg47Trp",
"transcript": "ENST00000909171.1",
"protein_id": "ENSP00000579230.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 678,
"cds_start": 139,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909171.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO3",
"gene_hgnc_id": 20329,
"hgvs_c": "c.139C>T",
"hgvs_p": "p.Arg47Trp",
"transcript": "ENST00000909174.1",
"protein_id": "ENSP00000579233.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 677,
"cds_start": 139,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909174.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO3",
"gene_hgnc_id": 20329,
"hgvs_c": "c.139C>T",
"hgvs_p": "p.Arg47Trp",
"transcript": "ENST00000909175.1",
"protein_id": "ENSP00000579234.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 677,
"cds_start": 139,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909175.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO3",
"gene_hgnc_id": 20329,
"hgvs_c": "c.139C>T",
"hgvs_p": "p.Arg47Trp",
"transcript": "ENST00000955130.1",
"protein_id": "ENSP00000625189.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 677,
"cds_start": 139,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955130.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO3",
"gene_hgnc_id": 20329,
"hgvs_c": "c.139C>T",
"hgvs_p": "p.Arg47Trp",
"transcript": "ENST00000909168.1",
"protein_id": "ENSP00000579227.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 675,
"cds_start": 139,
"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": "ENST00000909168.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO3",
"gene_hgnc_id": 20329,
"hgvs_c": "c.139C>T",
"hgvs_p": "p.Arg47Trp",
"transcript": "ENST00000909162.1",
"protein_id": "ENSP00000579221.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 656,
"cds_start": 139,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909162.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9D1",
"gene_hgnc_id": 20329,
"hgvs_c": "c.139C>T",
"hgvs_p": "p.Arg47Trp",
"transcript": "NM_001349744.2",
"protein_id": "NP_001336673.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 655,
"cds_start": 139,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349744.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO3",
"gene_hgnc_id": 20329,
"hgvs_c": "c.139C>T",
"hgvs_p": "p.Arg47Trp",
"transcript": "ENST00000909170.1",
"protein_id": "ENSP00000579229.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 616,
"cds_start": 139,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909170.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9D1",
"gene_hgnc_id": 20329,
"hgvs_c": "c.139C>T",
"hgvs_p": "p.Arg47Trp",
"transcript": "NM_001349742.2",
"protein_id": "NP_001336671.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 613,
"cds_start": 139,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349742.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO3",
"gene_hgnc_id": 20329,
"hgvs_c": "c.139C>T",
"hgvs_p": "p.Arg47Trp",
"transcript": "ENST00000909161.1",
"protein_id": "ENSP00000579220.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 613,
"cds_start": 139,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909161.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO3",
"gene_hgnc_id": 20329,
"hgvs_c": "c.139C>T",
"hgvs_p": "p.Arg47Trp",
"transcript": "ENST00000955129.1",
"protein_id": "ENSP00000625188.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 613,
"cds_start": 139,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955129.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO3",
"gene_hgnc_id": 20329,
"hgvs_c": "c.139C>T",
"hgvs_p": "p.Arg47Trp",
"transcript": "ENST00000909164.1",
"protein_id": "ENSP00000579223.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 600,
"cds_start": 139,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909164.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO3",
"gene_hgnc_id": 20329,
"hgvs_c": "c.139C>T",
"hgvs_p": "p.Arg47Trp",
"transcript": "ENST00000909169.1",
"protein_id": "ENSP00000579228.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 592,
"cds_start": 139,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909169.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9D1",
"gene_hgnc_id": 20329,
"hgvs_c": "c.139C>T",
"hgvs_p": "p.Arg47Trp",
"transcript": "NM_001349745.2",
"protein_id": "NP_001336674.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 591,
"cds_start": 139,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349745.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO3",
"gene_hgnc_id": 20329,
"hgvs_c": "c.139C>T",
"hgvs_p": "p.Arg47Trp",
"transcript": "ENST00000955126.1",
"protein_id": "ENSP00000625185.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 582,
"cds_start": 139,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955126.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9D1",
"gene_hgnc_id": 20329,
"hgvs_c": "c.139C>T",
"hgvs_p": "p.Arg47Trp",
"transcript": "NM_001349746.2",
"protein_id": "NP_001336675.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 580,
"cds_start": 139,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349746.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO3",
"gene_hgnc_id": 20329,
"hgvs_c": "c.139C>T",
"hgvs_p": "p.Arg47Trp",
"transcript": "ENST00000909163.1",
"protein_id": "ENSP00000579222.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 550,
"cds_start": 139,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909163.1"
},
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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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"dbsnp": "rs755051458",
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"hom_count_reference_population": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12963810563087463,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.144,
"revel_prediction": "Benign",
"alphamissense_score": 0.0997,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.747,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_017905.6",
"gene_symbol": "SLC9D1",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.139C>T",
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},
{
"score": -6,
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"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000434316.7",
"gene_symbol": "TMCO3",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.139C>T",
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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
}