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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: 4-55443770-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=55443770&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 55443770,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_004898.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLOCK",
"gene_hgnc_id": 2082,
"hgvs_c": "c.1819A>T",
"hgvs_p": "p.Ile607Phe",
"transcript": "NM_004898.4",
"protein_id": "NP_004889.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 846,
"cds_start": 1819,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 2236,
"cdna_end": null,
"cdna_length": 10470,
"mane_select": "ENST00000513440.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLOCK",
"gene_hgnc_id": 2082,
"hgvs_c": "c.1819A>T",
"hgvs_p": "p.Ile607Phe",
"transcript": "ENST00000513440.6",
"protein_id": "ENSP00000426983.1",
"transcript_support_level": 1,
"aa_start": 607,
"aa_end": null,
"aa_length": 846,
"cds_start": 1819,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 2236,
"cdna_end": null,
"cdna_length": 10470,
"mane_select": "NM_004898.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLOCK",
"gene_hgnc_id": 2082,
"hgvs_c": "c.1819A>T",
"hgvs_p": "p.Ile607Phe",
"transcript": "ENST00000309964.8",
"protein_id": "ENSP00000308741.4",
"transcript_support_level": 1,
"aa_start": 607,
"aa_end": null,
"aa_length": 846,
"cds_start": 1819,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 2070,
"cdna_end": null,
"cdna_length": 10304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLOCK",
"gene_hgnc_id": 2082,
"hgvs_c": "c.1819A>T",
"hgvs_p": "p.Ile607Phe",
"transcript": "ENST00000381322.5",
"protein_id": "ENSP00000370723.1",
"transcript_support_level": 1,
"aa_start": 607,
"aa_end": null,
"aa_length": 846,
"cds_start": 1819,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 2745,
"cdna_end": null,
"cdna_length": 4059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLOCK",
"gene_hgnc_id": 2082,
"hgvs_c": "n.401A>T",
"hgvs_p": null,
"transcript": "ENST00000511124.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLOCK",
"gene_hgnc_id": 2082,
"hgvs_c": "c.1819A>T",
"hgvs_p": "p.Ile607Phe",
"transcript": "NM_001267843.2",
"protein_id": "NP_001254772.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 846,
"cds_start": 1819,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 2745,
"cdna_end": null,
"cdna_length": 10979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLOCK",
"gene_hgnc_id": 2082,
"hgvs_c": "c.1819A>T",
"hgvs_p": "p.Ile607Phe",
"transcript": "XM_005265787.3",
"protein_id": "XP_005265844.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 846,
"cds_start": 1819,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 2243,
"cdna_end": null,
"cdna_length": 10477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLOCK",
"gene_hgnc_id": 2082,
"hgvs_c": "c.1819A>T",
"hgvs_p": "p.Ile607Phe",
"transcript": "XM_011534410.3",
"protein_id": "XP_011532712.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 846,
"cds_start": 1819,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 2082,
"cdna_end": null,
"cdna_length": 10316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLOCK",
"gene_hgnc_id": 2082,
"hgvs_c": "c.1819A>T",
"hgvs_p": "p.Ile607Phe",
"transcript": "XM_011534411.3",
"protein_id": "XP_011532713.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 846,
"cds_start": 1819,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 2089,
"cdna_end": null,
"cdna_length": 10323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLOCK",
"gene_hgnc_id": 2082,
"hgvs_c": "c.1819A>T",
"hgvs_p": "p.Ile607Phe",
"transcript": "XM_017008854.2",
"protein_id": "XP_016864343.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 846,
"cds_start": 1819,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 2393,
"cdna_end": null,
"cdna_length": 10627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLOCK",
"gene_hgnc_id": 2082,
"hgvs_c": "c.1819A>T",
"hgvs_p": "p.Ile607Phe",
"transcript": "XM_024454284.2",
"protein_id": "XP_024310052.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 846,
"cds_start": 1819,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 2417,
"cdna_end": null,
"cdna_length": 10651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLOCK",
"gene_hgnc_id": 2082,
"hgvs_c": "c.1819A>T",
"hgvs_p": "p.Ile607Phe",
"transcript": "XM_047416431.1",
"protein_id": "XP_047272387.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 846,
"cds_start": 1819,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 2400,
"cdna_end": null,
"cdna_length": 10634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLOCK",
"gene_hgnc_id": 2082,
"hgvs_c": "c.1819A>T",
"hgvs_p": "p.Ile607Phe",
"transcript": "XM_047416432.1",
"protein_id": "XP_047272388.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 846,
"cds_start": 1819,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 2239,
"cdna_end": null,
"cdna_length": 10473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLOCK",
"gene_hgnc_id": 2082,
"hgvs_c": "c.1819A>T",
"hgvs_p": "p.Ile607Phe",
"transcript": "XM_047416433.1",
"protein_id": "XP_047272389.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 846,
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"cdna_start": 5044,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLOCK",
"gene_hgnc_id": 2082,
"hgvs_c": "c.1819A>T",
"hgvs_p": "p.Ile607Phe",
"transcript": "XM_047416434.1",
"protein_id": "XP_047272390.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 846,
"cds_start": 1819,
"cds_end": null,
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"cdna_start": 5051,
"cdna_end": null,
"cdna_length": 13285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLOCK",
"gene_hgnc_id": 2082,
"hgvs_c": "c.1819A>T",
"hgvs_p": "p.Ile607Phe",
"transcript": "XM_047416435.1",
"protein_id": "XP_047272391.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
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"cds_start": 1819,
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"cdna_start": 2306,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLOCK",
"gene_hgnc_id": 2082,
"hgvs_c": "c.1819A>T",
"hgvs_p": "p.Ile607Phe",
"transcript": "XM_047416436.1",
"protein_id": "XP_047272392.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 846,
"cds_start": 1819,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 4890,
"cdna_end": null,
"cdna_length": 13124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLOCK",
"gene_hgnc_id": 2082,
"hgvs_c": "c.1819A>T",
"hgvs_p": "p.Ile607Phe",
"transcript": "XM_047416437.1",
"protein_id": "XP_047272393.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 846,
"cds_start": 1819,
"cds_end": null,
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"cdna_start": 4897,
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"cdna_length": 13131,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLOCK",
"gene_hgnc_id": 2082,
"hgvs_c": "c.1819A>T",
"hgvs_p": "p.Ile607Phe",
"transcript": "XM_047416438.1",
"protein_id": "XP_047272394.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
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"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLOCK",
"gene_hgnc_id": 2082,
"hgvs_c": "c.1819A>T",
"hgvs_p": "p.Ile607Phe",
"transcript": "XM_047416439.1",
"protein_id": "XP_047272395.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 846,
"cds_start": 1819,
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"cdna_start": 2246,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLOCK",
"gene_hgnc_id": 2082,
"hgvs_c": "c.1819A>T",
"hgvs_p": "p.Ile607Phe",
"transcript": "XM_047416440.1",
"protein_id": "XP_047272396.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 846,
"cds_start": 1819,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 2043,
"cdna_end": null,
"cdna_length": 10277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM165",
"gene_hgnc_id": 30760,
"hgvs_c": "c.407-8469T>A",
"hgvs_p": null,
"transcript": "ENST00000608091.1",
"protein_id": "ENSP00000476531.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 157,
"cds_start": -4,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TMEM165",
"gene_hgnc_id": 30760,
"hgvs_c": "n.*271-8469T>A",
"hgvs_p": null,
"transcript": "ENST00000506103.2",
"protein_id": "ENSP00000476621.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TMEM165",
"gene_hgnc_id": 30760,
"hgvs_c": "c.899-8469T>A",
"hgvs_p": null,
"transcript": "XM_011534394.4",
"protein_id": "XP_011532696.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 321,
"cds_start": -4,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLOCK",
"gene_hgnc_id": 2082,
"hgvs_c": "n.-15A>T",
"hgvs_p": null,
"transcript": "ENST00000479384.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CLOCK",
"gene_hgnc_id": 2082,
"dbsnp": "rs141058115",
"frequency_reference_population": 0.00002540238,
"hom_count_reference_population": 1,
"allele_count_reference_population": 41,
"gnomad_exomes_af": 0.0000273633,
"gnomad_genomes_af": 0.00000656987,
"gnomad_exomes_ac": 40,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03845062851905823,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.018,
"revel_prediction": "Benign",
"alphamissense_score": 0.0752,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.245,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_004898.4",
"gene_symbol": "CLOCK",
"hgnc_id": 2082,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1819A>T",
"hgvs_p": "p.Ile607Phe"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000608091.1",
"gene_symbol": "TMEM165",
"hgnc_id": 30760,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.407-8469T>A",
"hgvs_p": null
}
],
"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
}