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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: 12-56473561-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=56473561&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 56473561,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_013267.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"transcript": "NM_013267.4",
"protein_id": "NP_037399.2",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 602,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000311966.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013267.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"transcript": "ENST00000311966.9",
"protein_id": "ENSP00000310447.4",
"transcript_support_level": 1,
"aa_start": 420,
"aa_end": null,
"aa_length": 602,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013267.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311966.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPRYD4",
"gene_hgnc_id": 27468,
"hgvs_c": "c.*3984C>T",
"hgvs_p": null,
"transcript": "NM_207344.4",
"protein_id": "NP_997227.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 207,
"cds_start": null,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000338146.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_207344.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPRYD4",
"gene_hgnc_id": 27468,
"hgvs_c": "c.*3984C>T",
"hgvs_p": null,
"transcript": "ENST00000338146.7",
"protein_id": "ENSP00000338034.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 207,
"cds_start": null,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_207344.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338146.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "n.*594G>A",
"hgvs_p": null,
"transcript": "ENST00000424141.6",
"protein_id": "ENSP00000416282.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000424141.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "n.*347G>A",
"hgvs_p": null,
"transcript": "ENST00000486433.5",
"protein_id": "ENSP00000420328.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000486433.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "n.*594G>A",
"hgvs_p": null,
"transcript": "ENST00000424141.6",
"protein_id": "ENSP00000416282.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000424141.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "n.*347G>A",
"hgvs_p": null,
"transcript": "ENST00000486433.5",
"protein_id": "ENSP00000420328.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000486433.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285528",
"gene_hgnc_id": null,
"hgvs_c": "n.182+14376G>A",
"hgvs_p": null,
"transcript": "ENST00000648304.1",
"protein_id": "ENSP00000497190.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000648304.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.1399G>A",
"hgvs_p": "p.Ala467Thr",
"transcript": "ENST00000873347.1",
"protein_id": "ENSP00000543406.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 649,
"cds_start": 1399,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873347.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.1345G>A",
"hgvs_p": "p.Ala449Thr",
"transcript": "ENST00000873342.1",
"protein_id": "ENSP00000543401.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 631,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873342.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.1288G>A",
"hgvs_p": "p.Ala430Thr",
"transcript": "ENST00000873336.1",
"protein_id": "ENSP00000543395.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 612,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873336.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.1282G>A",
"hgvs_p": "p.Ala428Thr",
"transcript": "ENST00000873339.1",
"protein_id": "ENSP00000543398.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 610,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873339.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"transcript": "ENST00000873348.1",
"protein_id": "ENSP00000543407.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 609,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873348.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"transcript": "ENST00000873343.1",
"protein_id": "ENSP00000543402.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 601,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873343.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.1246G>A",
"hgvs_p": "p.Ala416Thr",
"transcript": "ENST00000873346.1",
"protein_id": "ENSP00000543405.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 598,
"cds_start": 1246,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873346.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.1225G>A",
"hgvs_p": "p.Ala409Thr",
"transcript": "ENST00000873337.1",
"protein_id": "ENSP00000543396.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 591,
"cds_start": 1225,
"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": "ENST00000873337.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.1207G>A",
"hgvs_p": "p.Ala403Thr",
"transcript": "ENST00000873341.1",
"protein_id": "ENSP00000543400.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 585,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873341.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Ala394Thr",
"transcript": "ENST00000873349.1",
"protein_id": "ENSP00000543408.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 576,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873349.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.1042G>A",
"hgvs_p": "p.Ala348Thr",
"transcript": "ENST00000873351.1",
"protein_id": "ENSP00000543410.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 530,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873351.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.1036G>A",
"hgvs_p": "p.Ala346Thr",
"transcript": "ENST00000873344.1",
"protein_id": "ENSP00000543403.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 528,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873344.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.1003G>A",
"hgvs_p": "p.Ala335Thr",
"transcript": "ENST00000873353.1",
"protein_id": "ENSP00000543412.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 517,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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{
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],
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],
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"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5811627507209778,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.316,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2322,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_013267.4",
"gene_symbol": "GLS2",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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},
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_207344.4",
"gene_symbol": "SPRYD4",
"hgnc_id": 27468,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*3984C>T",
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},
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000648304.1",
"gene_symbol": "ENSG00000285528",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.182+14376G>A",
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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
}