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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: 2-127068982-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=127068982&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 127068982,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000316724.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Arg154Gln",
"transcript": "NM_139343.3",
"protein_id": "NP_647593.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 593,
"cds_start": 461,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 672,
"cdna_end": null,
"cdna_length": 2487,
"mane_select": "ENST00000316724.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Arg154Gln",
"transcript": "ENST00000316724.10",
"protein_id": "ENSP00000316779.5",
"transcript_support_level": 1,
"aa_start": 154,
"aa_end": null,
"aa_length": 593,
"cds_start": 461,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 672,
"cdna_end": null,
"cdna_length": 2487,
"mane_select": "NM_139343.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Arg154Gln",
"transcript": "ENST00000357970.7",
"protein_id": "ENSP00000350654.3",
"transcript_support_level": 1,
"aa_start": 154,
"aa_end": null,
"aa_length": 550,
"cds_start": 461,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 806,
"cdna_end": null,
"cdna_length": 2497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Arg154Gln",
"transcript": "ENST00000346226.7",
"protein_id": "ENSP00000315411.3",
"transcript_support_level": 1,
"aa_start": 154,
"aa_end": null,
"aa_length": 518,
"cds_start": 461,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 806,
"cdna_end": null,
"cdna_length": 2401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Arg154Gln",
"transcript": "ENST00000351659.7",
"protein_id": "ENSP00000315388.3",
"transcript_support_level": 1,
"aa_start": 154,
"aa_end": null,
"aa_length": 506,
"cds_start": 461,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 806,
"cdna_end": null,
"cdna_length": 2365,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Arg154Gln",
"transcript": "ENST00000259238.8",
"protein_id": "ENSP00000259238.4",
"transcript_support_level": 1,
"aa_start": 154,
"aa_end": null,
"aa_length": 497,
"cds_start": 461,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 806,
"cdna_end": null,
"cdna_length": 2338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Arg154Gln",
"transcript": "ENST00000393040.7",
"protein_id": "ENSP00000376760.3",
"transcript_support_level": 1,
"aa_start": 154,
"aa_end": null,
"aa_length": 482,
"cds_start": 461,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 806,
"cdna_end": null,
"cdna_length": 2293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Arg154Gln",
"transcript": "ENST00000393041.7",
"protein_id": "ENSP00000376761.3",
"transcript_support_level": 1,
"aa_start": 154,
"aa_end": null,
"aa_length": 475,
"cds_start": 461,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 806,
"cdna_end": null,
"cdna_length": 2272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Arg154Gln",
"transcript": "ENST00000352848.8",
"protein_id": "ENSP00000315284.4",
"transcript_support_level": 1,
"aa_start": 154,
"aa_end": null,
"aa_length": 454,
"cds_start": 461,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 672,
"cdna_end": null,
"cdna_length": 2070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Arg154Gln",
"transcript": "ENST00000409400.1",
"protein_id": "ENSP00000386797.1",
"transcript_support_level": 1,
"aa_start": 154,
"aa_end": null,
"aa_length": 439,
"cds_start": 461,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 796,
"cdna_end": null,
"cdna_length": 2143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Arg154Gln",
"transcript": "ENST00000376113.6",
"protein_id": "ENSP00000365281.2",
"transcript_support_level": 1,
"aa_start": 154,
"aa_end": null,
"aa_length": 424,
"cds_start": 461,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 519,
"cdna_end": null,
"cdna_length": 1832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
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"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Arg154Gln",
"transcript": "ENST00000348750.8",
"protein_id": "ENSP00000259237.5",
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"aa_start": 154,
"aa_end": null,
"aa_length": 409,
"cds_start": 461,
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"cdna_start": 806,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"transcript": "NM_001320642.1",
"protein_id": "NP_001307571.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 566,
"cds_start": 380,
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"cdna_start": 1339,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
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"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Arg154Gln",
"transcript": "NM_001320641.2",
"protein_id": "NP_001307570.1",
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},
{
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"protein_coding": true,
"strand": false,
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],
"exon_rank": 6,
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"intron_rank": null,
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"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Arg154Gln",
"transcript": "NM_139344.3",
"protein_id": "NP_647594.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 550,
"cds_start": 461,
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"cdna_start": 672,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Arg154Gln",
"transcript": "NM_139347.3",
"protein_id": "NP_647597.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 6,
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"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Arg154Gln",
"transcript": "NM_001320640.2",
"protein_id": "NP_001307569.1",
"transcript_support_level": null,
"aa_start": 154,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Arg154Gln",
"transcript": "NM_139345.3",
"protein_id": "NP_647595.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 506,
"cds_start": 461,
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"cdna_start": 672,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 6,
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"intron_rank": null,
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"gene_symbol": "BIN1",
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"hgvs_c": "c.461G>A",
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"transcript": "NM_139346.3",
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},
{
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],
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"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.461G>A",
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"transcript": "NM_139348.3",
"protein_id": "NP_647598.1",
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "BIN1",
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"hgvs_c": "c.461G>A",
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"transcript": "NM_139349.3",
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"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
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"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Arg154Gln",
"transcript": "NM_001320633.2",
"protein_id": "NP_001307562.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 470,
"cds_start": 461,
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"cdna_start": 672,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "Q",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Arg154Gln",
"transcript": "NM_004305.4",
"protein_id": "NP_004296.1",
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}
],
"gene_symbol": "BIN1",
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"dbsnp": "rs267606681",
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": 0.8667358756065369,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.686,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8977,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.12,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.849,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"mitotip_score": null,
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"acmg_score": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM1",
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000316724.10",
"gene_symbol": "BIN1",
"hgnc_id": 1052,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD,SD",
"hgvs_c": "c.461G>A",
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}
],
"clinvar_disease": " 2, centronuclear,Myopathy",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:1",
"phenotype_combined": "Myopathy, centronuclear, 2",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}