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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: 17-532843-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=532843&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 532843,
"ref": "T",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000437048.7",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.2084A>G",
"hgvs_p": "p.Gln695Arg",
"transcript": "ENST00000571805.6",
"protein_id": "ENSP00000459312.1",
"transcript_support_level": 1,
"aa_start": 695,
"aa_end": null,
"aa_length": 699,
"cds_start": 2084,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 2232,
"cdna_end": null,
"cdna_length": 3070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.1997A>G",
"hgvs_p": "p.Gln666Arg",
"transcript": "ENST00000291074.10",
"protein_id": "ENSP00000291074.5",
"transcript_support_level": 1,
"aa_start": 666,
"aa_end": null,
"aa_length": 670,
"cds_start": 1997,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 2145,
"cdna_end": null,
"cdna_length": 2695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.1253A>G",
"hgvs_p": "p.Gln418Arg",
"transcript": "ENST00000401468.7",
"protein_id": "ENSP00000384294.3",
"transcript_support_level": 1,
"aa_start": 418,
"aa_end": null,
"aa_length": 422,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1253,
"cdna_end": null,
"cdna_length": 1269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.2084A>G",
"hgvs_p": "p.Gln695Arg",
"transcript": "NM_001128159.3",
"protein_id": "NP_001121631.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 832,
"cds_start": 2084,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 2214,
"cdna_end": null,
"cdna_length": 13089,
"mane_select": "ENST00000437048.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.2084A>G",
"hgvs_p": "p.Gln695Arg",
"transcript": "ENST00000437048.7",
"protein_id": "ENSP00000401435.2",
"transcript_support_level": 1,
"aa_start": 695,
"aa_end": null,
"aa_length": 832,
"cds_start": 2084,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 2214,
"cdna_end": null,
"cdna_length": 13089,
"mane_select": "NM_001128159.3",
"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": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "n.*243A>G",
"hgvs_p": null,
"transcript": "ENST00000389040.9",
"protein_id": "ENSP00000373692.5",
"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": 1903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "n.*243A>G",
"hgvs_p": null,
"transcript": "ENST00000389040.9",
"protein_id": "ENSP00000373692.5",
"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": 1903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.2084A>G",
"hgvs_p": "p.Gln695Arg",
"transcript": "NM_001366253.2",
"protein_id": "NP_001353182.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 699,
"cds_start": 2084,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 2214,
"cdna_end": null,
"cdna_length": 3111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.1997A>G",
"hgvs_p": "p.Gln666Arg",
"transcript": "NM_018289.4",
"protein_id": "NP_060759.2",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 670,
"cds_start": 1997,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 2127,
"cdna_end": null,
"cdna_length": 3024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.1880A>G",
"hgvs_p": "p.Gln627Arg",
"transcript": "ENST00000680128.1",
"protein_id": "ENSP00000506159.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 631,
"cds_start": 1880,
"cds_end": null,
"cds_length": 1896,
"cdna_start": 2010,
"cdna_end": null,
"cdna_length": 2716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.1625A>G",
"hgvs_p": "p.Gln542Arg",
"transcript": "ENST00000681096.1",
"protein_id": "ENSP00000506052.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 546,
"cds_start": 1625,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 1806,
"cdna_end": null,
"cdna_length": 2694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.1490A>G",
"hgvs_p": "p.Gln497Arg",
"transcript": "NM_001366254.2",
"protein_id": "NP_001353183.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 501,
"cds_start": 1490,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 2312,
"cdna_end": null,
"cdna_length": 3209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.314A>G",
"hgvs_p": "p.Gln105Arg",
"transcript": "ENST00000679817.1",
"protein_id": "ENSP00000505032.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 109,
"cds_start": 314,
"cds_end": null,
"cds_length": 330,
"cdna_start": 454,
"cdna_end": null,
"cdna_length": 589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.1934A>G",
"hgvs_p": "p.Gln645Arg",
"transcript": "ENST00000681510.1",
"protein_id": "ENSP00000505594.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 782,
"cds_start": 1934,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 2122,
"cdna_end": null,
"cdna_length": 2856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.1715A>G",
"hgvs_p": "p.Gln572Arg",
"transcript": "ENST00000681160.1",
"protein_id": "ENSP00000504905.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 709,
"cds_start": 1715,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 2624,
"cdna_end": null,
"cdna_length": 13499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.1553A>G",
"hgvs_p": "p.Gln518Arg",
"transcript": "ENST00000681917.1",
"protein_id": "ENSP00000505944.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 655,
"cds_start": 1553,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1678,
"cdna_end": null,
"cdna_length": 2241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.1715A>G",
"hgvs_p": "p.Gln572Arg",
"transcript": "ENST00000572334.7",
"protein_id": "ENSP00000506188.1",
"transcript_support_level": 5,
"aa_start": 572,
"aa_end": null,
"aa_length": 571,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1960,
"cdna_end": null,
"cdna_length": 1961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.1715A>G",
"hgvs_p": "p.Gln572Arg",
"transcript": "ENST00000680704.1",
"protein_id": "ENSP00000506453.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 571,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 2124,
"cdna_end": null,
"cdna_length": 2125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.314A>G",
"hgvs_p": "p.Gln105Arg",
"transcript": "ENST00000681103.1",
"protein_id": "ENSP00000505892.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 242,
"cds_start": 314,
"cds_end": null,
"cds_length": 729,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.314A>G",
"hgvs_p": "p.Gln105Arg",
"transcript": "ENST00000681858.1",
"protein_id": "ENSP00000505044.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 233,
"cds_start": 314,
"cds_end": null,
"cds_length": 702,
"cdna_start": 455,
"cdna_end": null,
"cdna_length": 1012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.2084A>G",
"hgvs_p": "p.Gln695Arg",
"transcript": "XM_047436344.1",
"protein_id": "XP_047292300.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 832,
"cds_start": 2084,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 2214,
"cdna_end": null,
"cdna_length": 7775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.1997A>G",
"hgvs_p": "p.Gln666Arg",
"transcript": "XM_047436345.1",
"protein_id": "XP_047292301.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 803,
"cds_start": 1997,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 2127,
"cdna_end": null,
"cdna_length": 7688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
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},
{
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},
{
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{
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"gene_symbol": "VPS53-AS1",
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}
],
"gene_symbol": "VPS53",
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"dbsnp": "rs587777465",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8928539156913757,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.883,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9903,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.29,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.57,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PP3_Moderate,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000437048.7",
"gene_symbol": "VPS53",
"hgnc_id": 25608,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2084A>G",
"hgvs_p": "p.Gln695Arg"
},
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000570974.1",
"gene_symbol": "ENSG00000263300",
"hgnc_id": 58554,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.291-7546T>C",
"hgvs_p": null
},
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "XR_007065570.1",
"gene_symbol": "VPS53-AS1",
"hgnc_id": 58554,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.694-7546T>C",
"hgvs_p": null
}
],
"clinvar_disease": "Pontocerebellar hypoplasia type 2E,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "Pontocerebellar hypoplasia type 2E|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}