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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: 1-117957091-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=117957091&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 117957091,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006784.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR3",
"gene_hgnc_id": 12755,
"hgvs_c": "c.2477T>C",
"hgvs_p": "p.Val826Ala",
"transcript": "NM_006784.3",
"protein_id": "NP_006775.1",
"transcript_support_level": null,
"aa_start": 826,
"aa_end": null,
"aa_length": 943,
"cds_start": 2477,
"cds_end": null,
"cds_length": 2832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000349139.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006784.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR3",
"gene_hgnc_id": 12755,
"hgvs_c": "c.2477T>C",
"hgvs_p": "p.Val826Ala",
"transcript": "ENST00000349139.6",
"protein_id": "ENSP00000308179.4",
"transcript_support_level": 1,
"aa_start": 826,
"aa_end": null,
"aa_length": 943,
"cds_start": 2477,
"cds_end": null,
"cds_length": 2832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006784.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349139.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": 48,
"intron_rank_end": null,
"gene_symbol": "SPAG17",
"gene_hgnc_id": 26620,
"hgvs_c": "c.*1-3042A>G",
"hgvs_p": null,
"transcript": "NM_206996.4",
"protein_id": "NP_996879.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2223,
"cds_start": null,
"cds_end": null,
"cds_length": 6672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000336338.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_206996.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": 48,
"intron_rank_end": null,
"gene_symbol": "SPAG17",
"gene_hgnc_id": 26620,
"hgvs_c": "c.*1-3042A>G",
"hgvs_p": null,
"transcript": "ENST00000336338.10",
"protein_id": "ENSP00000337804.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2223,
"cds_start": null,
"cds_end": null,
"cds_length": 6672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_206996.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336338.10"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR3",
"gene_hgnc_id": 12755,
"hgvs_c": "c.2477T>C",
"hgvs_p": "p.Val826Ala",
"transcript": "ENST00000880604.1",
"protein_id": "ENSP00000550663.1",
"transcript_support_level": null,
"aa_start": 826,
"aa_end": null,
"aa_length": 943,
"cds_start": 2477,
"cds_end": null,
"cds_length": 2832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880604.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR3",
"gene_hgnc_id": 12755,
"hgvs_c": "c.2477T>C",
"hgvs_p": "p.Val826Ala",
"transcript": "ENST00000880605.1",
"protein_id": "ENSP00000550664.1",
"transcript_support_level": null,
"aa_start": 826,
"aa_end": null,
"aa_length": 943,
"cds_start": 2477,
"cds_end": null,
"cds_length": 2832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880605.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR3",
"gene_hgnc_id": 12755,
"hgvs_c": "c.2477T>C",
"hgvs_p": "p.Val826Ala",
"transcript": "ENST00000928994.1",
"protein_id": "ENSP00000599053.1",
"transcript_support_level": null,
"aa_start": 826,
"aa_end": null,
"aa_length": 943,
"cds_start": 2477,
"cds_end": null,
"cds_length": 2832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928994.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR3",
"gene_hgnc_id": 12755,
"hgvs_c": "c.2477T>C",
"hgvs_p": "p.Val826Ala",
"transcript": "ENST00000947751.1",
"protein_id": "ENSP00000617810.1",
"transcript_support_level": null,
"aa_start": 826,
"aa_end": null,
"aa_length": 943,
"cds_start": 2477,
"cds_end": null,
"cds_length": 2832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947751.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR3",
"gene_hgnc_id": 12755,
"hgvs_c": "c.2477T>C",
"hgvs_p": "p.Val826Ala",
"transcript": "ENST00000947753.1",
"protein_id": "ENSP00000617812.1",
"transcript_support_level": null,
"aa_start": 826,
"aa_end": null,
"aa_length": 943,
"cds_start": 2477,
"cds_end": null,
"cds_length": 2832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947753.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR3",
"gene_hgnc_id": 12755,
"hgvs_c": "c.2477T>C",
"hgvs_p": "p.Val826Ala",
"transcript": "ENST00000947754.1",
"protein_id": "ENSP00000617813.1",
"transcript_support_level": null,
"aa_start": 826,
"aa_end": null,
"aa_length": 943,
"cds_start": 2477,
"cds_end": null,
"cds_length": 2832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947754.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR3",
"gene_hgnc_id": 12755,
"hgvs_c": "c.2420T>C",
"hgvs_p": "p.Val807Ala",
"transcript": "ENST00000947752.1",
"protein_id": "ENSP00000617811.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 924,
"cds_start": 2420,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947752.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": 47,
"intron_rank_end": null,
"gene_symbol": "SPAG17",
"gene_hgnc_id": 26620,
"hgvs_c": "c.*1-3042A>G",
"hgvs_p": null,
"transcript": "XM_006710426.4",
"protein_id": "XP_006710489.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2185,
"cds_start": null,
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"cds_length": 6558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006710426.4"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": 47,
"intron_rank_end": null,
"gene_symbol": "SPAG17",
"gene_hgnc_id": 26620,
"hgvs_c": "c.*1-3042A>G",
"hgvs_p": null,
"transcript": "XM_011540934.2",
"protein_id": "XP_011539236.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2179,
"cds_start": null,
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"cds_length": 6540,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540934.2"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 47,
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"gene_symbol": "SPAG17",
"gene_hgnc_id": 26620,
"hgvs_c": "c.*1-3042A>G",
"hgvs_p": null,
"transcript": "XM_006710427.4",
"protein_id": "XP_006710490.1",
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_006710427.4"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": 47,
"intron_rank_end": null,
"gene_symbol": "SPAG17",
"gene_hgnc_id": 26620,
"hgvs_c": "c.*1-3042A>G",
"hgvs_p": null,
"transcript": "XM_011540935.3",
"protein_id": "XP_011539237.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_011540935.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 41,
"intron_rank": 40,
"intron_rank_end": null,
"gene_symbol": "SPAG17",
"gene_hgnc_id": 26620,
"hgvs_c": "c.*1-3042A>G",
"hgvs_p": null,
"transcript": "XM_011540936.3",
"protein_id": "XP_011539238.1",
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540936.3"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 40,
"intron_rank": 39,
"intron_rank_end": null,
"gene_symbol": "SPAG17",
"gene_hgnc_id": 26620,
"hgvs_c": "c.*1-3042A>G",
"hgvs_p": null,
"transcript": "XM_011540937.3",
"protein_id": "XP_011539239.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_011540937.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 40,
"intron_rank_end": null,
"gene_symbol": "SPAG17",
"gene_hgnc_id": 26620,
"hgvs_c": "c.*1-3042A>G",
"hgvs_p": null,
"transcript": "XM_047448734.1",
"protein_id": "XP_047304690.1",
"transcript_support_level": null,
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"cdna_start": null,
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"feature": "XM_047448734.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 36,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "SPAG17",
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"hgvs_c": "c.*1-3042A>G",
"hgvs_p": null,
"transcript": "XM_006710428.4",
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"biotype": "protein_coding",
"feature": "XM_006710428.4"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "SPAG17",
"gene_hgnc_id": 26620,
"hgvs_c": "c.*1-3042A>G",
"hgvs_p": null,
"transcript": "XM_011540939.3",
"protein_id": "XP_011539241.1",
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"biotype": "protein_coding",
"feature": "XM_011540939.3"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 36,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "SPAG17",
"gene_hgnc_id": 26620,
"hgvs_c": "c.*1-3042A>G",
"hgvs_p": null,
"transcript": "XM_011540942.3",
"protein_id": "XP_011539244.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1462,
"cds_start": 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": "XM_011540942.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "SPAG17",
"gene_hgnc_id": 26620,
"hgvs_c": "c.*1-3042A>G",
"hgvs_p": null,
"transcript": "XM_047448753.1",
"protein_id": "XP_047304709.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1462,
"cds_start": 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": "XM_047448753.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 27,
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"gene_symbol": "SPAG17",
"gene_hgnc_id": 26620,
"hgvs_c": "c.*1-3042A>G",
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"transcript": "XM_047448758.1",
"protein_id": "XP_047304714.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 1152,
"cds_start": null,
"cds_end": null,
"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448758.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SPAG17",
"gene_hgnc_id": 26620,
"hgvs_c": "n.255-3042A>G",
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"transcript": "ENST00000466857.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000466857.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
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"gene_symbol": "SPAG17",
"gene_hgnc_id": 26620,
"hgvs_c": "n.422-3042A>G",
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"transcript": "ENST00000469128.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000469128.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SPAG17",
"gene_hgnc_id": 26620,
"hgvs_c": "n.285-1861A>G",
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"transcript": "ENST00000478697.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000478697.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": 48,
"intron_rank_end": null,
"gene_symbol": "SPAG17",
"gene_hgnc_id": 26620,
"hgvs_c": "n.6744-1861A>G",
"hgvs_p": null,
"transcript": "XR_946574.2",
"protein_id": null,
"transcript_support_level": null,
"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": "XR_946574.2"
}
],
"gene_symbol": "WDR3",
"gene_hgnc_id": 12755,
"dbsnp": "rs369554244",
"frequency_reference_population": 0.00000561647,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.0000020687,
"gnomad_genomes_af": 0.0000394099,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7651534080505371,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.544,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6121,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.921,
"phylop100way_prediction": "Pathogenic",
"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": 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_006784.3",
"gene_symbol": "WDR3",
"hgnc_id": 12755,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2477T>C",
"hgvs_p": "p.Val826Ala"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_206996.4",
"gene_symbol": "SPAG17",
"hgnc_id": 26620,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.*1-3042A>G",
"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
}