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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: 1-41037541-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=41037541&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 41037541,
"ref": "C",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000695335.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1499G>T",
"hgvs_p": "p.Gly500Val",
"transcript": "NM_001394311.1",
"protein_id": "NP_001381240.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 670,
"cds_start": 1499,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1864,
"cdna_end": null,
"cdna_length": 3370,
"mane_select": "ENST00000695335.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1499G>T",
"hgvs_p": "p.Gly500Val",
"transcript": "ENST00000695335.1",
"protein_id": "ENSP00000511813.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 670,
"cds_start": 1499,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1864,
"cdna_end": null,
"cdna_length": 3370,
"mane_select": "NM_001394311.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1469G>T",
"hgvs_p": "p.Gly490Val",
"transcript": "ENST00000326197.11",
"protein_id": "ENSP00000318094.7",
"transcript_support_level": 1,
"aa_start": 490,
"aa_end": null,
"aa_length": 660,
"cds_start": 1469,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1769,
"cdna_end": null,
"cdna_length": 3275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1286G>T",
"hgvs_p": "p.Gly429Val",
"transcript": "ENST00000372595.5",
"protein_id": "ENSP00000361676.1",
"transcript_support_level": 1,
"aa_start": 429,
"aa_end": null,
"aa_length": 599,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1725,
"cdna_end": null,
"cdna_length": 3231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1328G>T",
"hgvs_p": "p.Gly443Val",
"transcript": "ENST00000372597.5",
"protein_id": "ENSP00000361678.1",
"transcript_support_level": 1,
"aa_start": 443,
"aa_end": null,
"aa_length": 591,
"cds_start": 1328,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1812,
"cdna_end": null,
"cdna_length": 3252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1286G>T",
"hgvs_p": "p.Gly429Val",
"transcript": "ENST00000372596.5",
"protein_id": "ENSP00000361677.1",
"transcript_support_level": 1,
"aa_start": 429,
"aa_end": null,
"aa_length": 577,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1883,
"cdna_end": null,
"cdna_length": 3323,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLFNL1-AS1",
"gene_hgnc_id": 44126,
"hgvs_c": "n.3993-505C>A",
"hgvs_p": null,
"transcript": "ENST00000626479.1",
"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": 4800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1499G>T",
"hgvs_p": "p.Gly500Val",
"transcript": "ENST00000850938.1",
"protein_id": "ENSP00000521019.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 670,
"cds_start": 1499,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1941,
"cdna_end": null,
"cdna_length": 3447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"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": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1469G>T",
"hgvs_p": "p.Gly490Val",
"transcript": "NM_001031694.3",
"protein_id": "NP_001026864.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 660,
"cds_start": 1469,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 2216,
"cdna_end": null,
"cdna_length": 3722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"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": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1469G>T",
"hgvs_p": "p.Gly490Val",
"transcript": "NM_001394300.1",
"protein_id": "NP_001381229.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 660,
"cds_start": 1469,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 2417,
"cdna_end": null,
"cdna_length": 3923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"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": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1469G>T",
"hgvs_p": "p.Gly490Val",
"transcript": "NM_001394301.1",
"protein_id": "NP_001381230.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 660,
"cds_start": 1469,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 2287,
"cdna_end": null,
"cdna_length": 3793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"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": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1469G>T",
"hgvs_p": "p.Gly490Val",
"transcript": "NM_001394302.1",
"protein_id": "NP_001381231.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 660,
"cds_start": 1469,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 2293,
"cdna_end": null,
"cdna_length": 3799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1499G>T",
"hgvs_p": "p.Gly500Val",
"transcript": "NM_001172219.2",
"protein_id": "NP_001165690.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 648,
"cds_start": 1499,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 1864,
"cdna_end": null,
"cdna_length": 3304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1499G>T",
"hgvs_p": "p.Gly500Val",
"transcript": "ENST00000337495.9",
"protein_id": "ENSP00000337352.5",
"transcript_support_level": 2,
"aa_start": 500,
"aa_end": null,
"aa_length": 648,
"cds_start": 1499,
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"cdna_start": 1668,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1469G>T",
"hgvs_p": "p.Gly490Val",
"transcript": "NM_001394299.1",
"protein_id": "NP_001381228.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 638,
"cds_start": 1469,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 2417,
"cdna_end": null,
"cdna_length": 3857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1469G>T",
"hgvs_p": "p.Gly490Val",
"transcript": "NM_001394304.1",
"protein_id": "NP_001381233.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 638,
"cds_start": 1469,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 2007,
"cdna_end": null,
"cdna_length": 3447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1469G>T",
"hgvs_p": "p.Gly490Val",
"transcript": "NM_001394305.1",
"protein_id": "NP_001381234.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 638,
"cds_start": 1469,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 2293,
"cdna_end": null,
"cdna_length": 3733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1469G>T",
"hgvs_p": "p.Gly490Val",
"transcript": "NM_001394306.1",
"protein_id": "NP_001381235.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 638,
"cds_start": 1469,
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"cdna_start": 2216,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1328G>T",
"hgvs_p": "p.Gly443Val",
"transcript": "NM_001394307.1",
"protein_id": "NP_001381236.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 613,
"cds_start": 1328,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 2002,
"cdna_end": null,
"cdna_length": 3508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1286G>T",
"hgvs_p": "p.Gly429Val",
"transcript": "NM_001172221.3",
"protein_id": "NP_001165692.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 599,
"cds_start": 1286,
"cds_end": null,
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"cdna_start": 2065,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1286G>T",
"hgvs_p": "p.Gly429Val",
"transcript": "NM_001394303.1",
"protein_id": "NP_001381232.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 599,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 2073,
"cdna_end": null,
"cdna_length": 3579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1328G>T",
"hgvs_p": "p.Gly443Val",
"transcript": "NM_012236.4",
"protein_id": "NP_036368.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 591,
"cds_start": 1328,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 2002,
"cdna_end": null,
"cdna_length": 3442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
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},
{
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},
{
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}
],
"gene_symbol": "SCMH1",
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"dbsnp": "rs755215679",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4806457757949829,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.9300000071525574,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.141,
"revel_prediction": "Benign",
"alphamissense_score": 0.1507,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.078,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.26,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": 0.999318562799637,
"dbscsnv_ada_prediction": "Pathogenic",
"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,
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"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000695335.1",
"gene_symbol": "SCMH1",
"hgnc_id": 19003,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1499G>T",
"hgvs_p": "p.Gly500Val"
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{
"score": 3,
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"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000626479.1",
"gene_symbol": "SLFNL1-AS1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.3993-505C>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
}