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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: 6-26092913-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=26092913&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 26092913,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000357618.10",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFE",
"gene_hgnc_id": 4886,
"hgvs_c": "c.845G>A",
"hgvs_p": "p.Cys282Tyr",
"transcript": "NM_000410.4",
"protein_id": "NP_000401.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 348,
"cds_start": 845,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 857,
"cdna_end": null,
"cdna_length": 5176,
"mane_select": "ENST00000357618.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFE",
"gene_hgnc_id": 4886,
"hgvs_c": "c.845G>A",
"hgvs_p": "p.Cys282Tyr",
"transcript": "ENST00000357618.10",
"protein_id": "ENSP00000417404.1",
"transcript_support_level": 1,
"aa_start": 282,
"aa_end": null,
"aa_length": 348,
"cds_start": 845,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 857,
"cdna_end": null,
"cdna_length": 5176,
"mane_select": "NM_000410.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFE",
"gene_hgnc_id": 4886,
"hgvs_c": "c.836G>A",
"hgvs_p": "p.Cys279Tyr",
"transcript": "ENST00000470149.5",
"protein_id": "ENSP00000419725.1",
"transcript_support_level": 1,
"aa_start": 279,
"aa_end": null,
"aa_length": 345,
"cds_start": 836,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 885,
"cdna_end": null,
"cdna_length": 1123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFE",
"gene_hgnc_id": 4886,
"hgvs_c": "c.803G>A",
"hgvs_p": "p.Cys268Tyr",
"transcript": "ENST00000461397.6",
"protein_id": "ENSP00000420802.1",
"transcript_support_level": 1,
"aa_start": 268,
"aa_end": null,
"aa_length": 334,
"cds_start": 803,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 925,
"cdna_end": null,
"cdna_length": 1131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFE",
"gene_hgnc_id": 4886,
"hgvs_c": "c.776G>A",
"hgvs_p": "p.Cys259Tyr",
"transcript": "ENST00000397022.7",
"protein_id": "ENSP00000380217.3",
"transcript_support_level": 1,
"aa_start": 259,
"aa_end": null,
"aa_length": 325,
"cds_start": 776,
"cds_end": null,
"cds_length": 978,
"cdna_start": 936,
"cdna_end": null,
"cdna_length": 1280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFE",
"gene_hgnc_id": 4886,
"hgvs_c": "c.581G>A",
"hgvs_p": "p.Cys194Tyr",
"transcript": "ENST00000349999.8",
"protein_id": "ENSP00000259699.6",
"transcript_support_level": 1,
"aa_start": 194,
"aa_end": null,
"aa_length": 260,
"cds_start": 581,
"cds_end": null,
"cds_length": 783,
"cdna_start": 741,
"cdna_end": null,
"cdna_length": 1704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFE",
"gene_hgnc_id": 4886,
"hgvs_c": "c.569G>A",
"hgvs_p": "p.Cys190Tyr",
"transcript": "ENST00000317896.11",
"protein_id": "ENSP00000313776.7",
"transcript_support_level": 1,
"aa_start": 190,
"aa_end": null,
"aa_length": 256,
"cds_start": 569,
"cds_end": null,
"cds_length": 771,
"cdna_start": 729,
"cdna_end": null,
"cdna_length": 1922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFE",
"gene_hgnc_id": 4886,
"hgvs_c": "c.539G>A",
"hgvs_p": "p.Cys180Tyr",
"transcript": "ENST00000488199.5",
"protein_id": "ENSP00000420559.1",
"transcript_support_level": 1,
"aa_start": 180,
"aa_end": null,
"aa_length": 246,
"cds_start": 539,
"cds_end": null,
"cds_length": 741,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFE",
"gene_hgnc_id": 4886,
"hgvs_c": "c.527G>A",
"hgvs_p": "p.Cys176Tyr",
"transcript": "ENST00000336625.12",
"protein_id": "ENSP00000337819.8",
"transcript_support_level": 1,
"aa_start": 176,
"aa_end": null,
"aa_length": 242,
"cds_start": 527,
"cds_end": null,
"cds_length": 729,
"cdna_start": 571,
"cdna_end": null,
"cdna_length": 804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFE",
"gene_hgnc_id": 4886,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Cys102Tyr",
"transcript": "ENST00000353147.9",
"protein_id": "ENSP00000312342.5",
"transcript_support_level": 1,
"aa_start": 102,
"aa_end": null,
"aa_length": 168,
"cds_start": 305,
"cds_end": null,
"cds_length": 507,
"cdna_start": 465,
"cdna_end": null,
"cdna_length": 809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFE",
"gene_hgnc_id": 4886,
"hgvs_c": "n.688G>A",
"hgvs_p": null,
"transcript": "ENST00000486147.1",
"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": 987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HFE",
"gene_hgnc_id": 4886,
"hgvs_c": "c.77-206G>A",
"hgvs_p": null,
"transcript": "ENST00000352392.8",
"protein_id": "ENSP00000315936.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 76,
"cds_start": -4,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFE",
"gene_hgnc_id": 4886,
"hgvs_c": "c.845G>A",
"hgvs_p": "p.Cys282Tyr",
"transcript": "NM_001384164.1",
"protein_id": "NP_001371093.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 348,
"cds_start": 845,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 857,
"cdna_end": null,
"cdna_length": 4991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFE",
"gene_hgnc_id": 4886,
"hgvs_c": "c.845G>A",
"hgvs_p": "p.Cys282Tyr",
"transcript": "ENST00000485729.2",
"protein_id": "ENSP00000417534.2",
"transcript_support_level": 3,
"aa_start": 282,
"aa_end": null,
"aa_length": 348,
"cds_start": 845,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 855,
"cdna_end": null,
"cdna_length": 2118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFE",
"gene_hgnc_id": 4886,
"hgvs_c": "c.836G>A",
"hgvs_p": "p.Cys279Tyr",
"transcript": "NM_001406751.1",
"protein_id": "NP_001393680.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 345,
"cds_start": 836,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 848,
"cdna_end": null,
"cdna_length": 5167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFE",
"gene_hgnc_id": 4886,
"hgvs_c": "c.845G>A",
"hgvs_p": "p.Cys282Tyr",
"transcript": "NM_001300749.3",
"protein_id": "NP_001287678.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 337,
"cds_start": 845,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 857,
"cdna_end": null,
"cdna_length": 4958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFE",
"gene_hgnc_id": 4886,
"hgvs_c": "c.845G>A",
"hgvs_p": "p.Cys282Tyr",
"transcript": "ENST00000309234.11",
"protein_id": "ENSP00000311698.6",
"transcript_support_level": 2,
"aa_start": 282,
"aa_end": null,
"aa_length": 337,
"cds_start": 845,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 849,
"cdna_end": null,
"cdna_length": 1160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFE",
"gene_hgnc_id": 4886,
"hgvs_c": "c.803G>A",
"hgvs_p": "p.Cys268Tyr",
"transcript": "NM_139006.3",
"protein_id": "NP_620575.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 334,
"cds_start": 803,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 815,
"cdna_end": null,
"cdna_length": 5134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFE",
"gene_hgnc_id": 4886,
"hgvs_c": "c.776G>A",
"hgvs_p": "p.Cys259Tyr",
"transcript": "NM_139009.3",
"protein_id": "NP_620578.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 325,
"cds_start": 776,
"cds_end": null,
"cds_length": 978,
"cdna_start": 788,
"cdna_end": null,
"cdna_length": 5107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFE",
"gene_hgnc_id": 4886,
"hgvs_c": "c.743G>A",
"hgvs_p": "p.Cys248Tyr",
"transcript": "ENST00000714170.1",
"protein_id": "ENSP00000519459.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 314,
"cds_start": 743,
"cds_end": null,
"cds_length": 945,
"cdna_start": 937,
"cdna_end": null,
"cdna_length": 3736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFE",
"gene_hgnc_id": 4886,
"hgvs_c": "c.581G>A",
"hgvs_p": "p.Cys194Tyr",
"transcript": "NM_139007.3",
"protein_id": "NP_620576.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 260,
"cds_start": 581,
"cds_end": null,
"cds_length": 783,
"cdna_start": 593,
"cdna_end": null,
"cdna_length": 4912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFE",
"gene_hgnc_id": 4886,
"hgvs_c": "c.569G>A",
"hgvs_p": "p.Cys190Tyr",
"transcript": "NM_139004.3",
"protein_id": "NP_620573.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 256,
"cds_start": 569,
"cds_end": null,
"cds_length": 771,
"cdna_start": 581,
"cdna_end": null,
"cdna_length": 4900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFE",
"gene_hgnc_id": 4886,
"hgvs_c": "c.581G>A",
"hgvs_p": "p.Cys194Tyr",
"transcript": "NM_001406752.1",
"protein_id": "NP_001393681.1",
"transcript_support_level": null,
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.52,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.226,
"phylop100way_prediction": "Uncertain_significance",
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"spliceai_max_prediction": "Benign",
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"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
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"PP5",
"BP4",
"BS1_Supporting",
"BS2"
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"verdict": "Likely_benign",
"transcript": "ENST00000357618.10",
"gene_symbol": "HFE",
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"effects": [
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"inheritance_mode": "AR",
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"hgvs_p": "p.Cys282Tyr"
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{
"score": -4,
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"pathogenic_score": 2,
"criteria": [
"PP3",
"PP5",
"BP4",
"BS1_Supporting",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000707188.1",
"gene_symbol": "H2BC4",
"hgnc_id": 4757,
"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.*10-1879C>T",
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}
],
"clinvar_disease": "6 conditions,7 conditions,Bronze diabetes,Cardiomyopathy,Cutaneous photosensitivity,HFE-related disorder,Hemochromatosis type 1,Hereditary cancer-predisposing syndrome,Hereditary hemochromatosis,Inborn genetic diseases,Juvenile hemochromatosis,Neuroendocrine neoplasm,Porphyrinuria,not provided",
"clinvar_classification": " other, risk factor,Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:40 US:2 O:6",
"phenotype_combined": "Hemochromatosis type 1|Hereditary cancer-predisposing syndrome|Hereditary hemochromatosis|Cutaneous photosensitivity;Porphyrinuria|7 conditions|not provided|HFE-related disorder|Inborn genetic diseases|6 conditions|Bronze diabetes|Juvenile hemochromatosis|Cardiomyopathy|Neuroendocrine neoplasm",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity; other; risk factor",
"custom_annotations": null
}
],
"message": null
}