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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: 1-155257519-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=155257519&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 155257519,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005698.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.656G>A",
"hgvs_p": "p.Arg219His",
"transcript": "NM_005698.4",
"protein_id": "NP_005689.2",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 347,
"cds_start": 656,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 865,
"cdna_end": null,
"cdna_length": 1545,
"mane_select": "ENST00000302631.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.656G>A",
"hgvs_p": "p.Arg219His",
"transcript": "ENST00000302631.8",
"protein_id": "ENSP00000307275.3",
"transcript_support_level": 1,
"aa_start": 219,
"aa_end": null,
"aa_length": 347,
"cds_start": 656,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 865,
"cdna_end": null,
"cdna_length": 1545,
"mane_select": "NM_005698.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.578G>A",
"hgvs_p": "p.Arg193His",
"transcript": "ENST00000355379.3",
"protein_id": "ENSP00000347540.3",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 321,
"cds_start": 578,
"cds_end": null,
"cds_length": 966,
"cdna_start": 857,
"cdna_end": null,
"cdna_length": 1537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Arg205His",
"transcript": "NM_001438464.1",
"protein_id": "NP_001425393.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 333,
"cds_start": 614,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 823,
"cdna_end": null,
"cdna_length": 1503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Arg205His",
"transcript": "ENST00000714216.1",
"protein_id": "ENSP00000519499.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 333,
"cds_start": 614,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 729,
"cdna_end": null,
"cdna_length": 1408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.578G>A",
"hgvs_p": "p.Arg193His",
"transcript": "NM_052837.3",
"protein_id": "NP_443069.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 321,
"cds_start": 578,
"cds_end": null,
"cds_length": 966,
"cdna_start": 787,
"cdna_end": null,
"cdna_length": 1467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.656G>A",
"hgvs_p": "p.Arg219His",
"transcript": "NM_001438465.1",
"protein_id": "NP_001425394.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 310,
"cds_start": 656,
"cds_end": null,
"cds_length": 933,
"cdna_start": 865,
"cdna_end": null,
"cdna_length": 1799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.656G>A",
"hgvs_p": "p.Arg219His",
"transcript": "ENST00000714218.1",
"protein_id": "ENSP00000519501.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 310,
"cds_start": 656,
"cds_end": null,
"cds_length": 933,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 1706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.656G>A",
"hgvs_p": "p.Arg219His",
"transcript": "NM_001438466.1",
"protein_id": "NP_001425395.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 309,
"cds_start": 656,
"cds_end": null,
"cds_length": 930,
"cdna_start": 865,
"cdna_end": null,
"cdna_length": 1577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.536G>A",
"hgvs_p": "p.Arg179His",
"transcript": "NM_001438467.1",
"protein_id": "NP_001425396.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 307,
"cds_start": 536,
"cds_end": null,
"cds_length": 924,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 1425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.536G>A",
"hgvs_p": "p.Arg179His",
"transcript": "ENST00000714220.1",
"protein_id": "ENSP00000519503.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 307,
"cds_start": 536,
"cds_end": null,
"cds_length": 924,
"cdna_start": 651,
"cdna_end": null,
"cdna_length": 1325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"transcript": "NM_001438468.1",
"protein_id": "NP_001425397.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 306,
"cds_start": 533,
"cds_end": null,
"cds_length": 921,
"cdna_start": 742,
"cdna_end": null,
"cdna_length": 1422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Arg172His",
"transcript": "ENST00000714213.1",
"protein_id": "ENSP00000519495.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 300,
"cds_start": 515,
"cds_end": null,
"cds_length": 903,
"cdna_start": 1004,
"cdna_end": null,
"cdna_length": 1685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.656G>A",
"hgvs_p": "p.Arg219His",
"transcript": "NM_001438469.1",
"protein_id": "NP_001425398.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 287,
"cds_start": 656,
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"cdna_start": 865,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.656G>A",
"hgvs_p": "p.Arg219His",
"transcript": "ENST00000472397.6",
"protein_id": "ENSP00000519504.1",
"transcript_support_level": 3,
"aa_start": 219,
"aa_end": null,
"aa_length": 287,
"cds_start": 656,
"cds_end": null,
"cds_length": 864,
"cdna_start": 865,
"cdna_end": null,
"cdna_length": 1506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.578G>A",
"hgvs_p": "p.Arg193His",
"transcript": "NM_001438470.1",
"protein_id": "NP_001425399.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
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"cds_start": 578,
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"cdna_start": 787,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.578G>A",
"hgvs_p": "p.Arg193His",
"transcript": "ENST00000714214.1",
"protein_id": "ENSP00000519496.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 284,
"cds_start": 578,
"cds_end": null,
"cds_length": 855,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 1256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.455G>A",
"hgvs_p": "p.Arg152His",
"transcript": "NM_001438471.1",
"protein_id": "NP_001425400.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 280,
"cds_start": 455,
"cds_end": null,
"cds_length": 843,
"cdna_start": 664,
"cdna_end": null,
"cdna_length": 1344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.455G>A",
"hgvs_p": "p.Arg152His",
"transcript": "ENST00000714219.1",
"protein_id": "ENSP00000519502.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 280,
"cds_start": 455,
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"cdna_start": 664,
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"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.656G>A",
"hgvs_p": "p.Arg219His",
"transcript": "NM_001438472.1",
"protein_id": "NP_001425401.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 274,
"cds_start": 656,
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"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.230G>A",
"hgvs_p": "p.Arg77His",
"transcript": "NM_001438473.1",
"protein_id": "NP_001425402.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 205,
"cds_start": 230,
"cds_end": null,
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"cdna_start": 803,
"cdna_end": null,
"cdna_length": 1483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.413G>A",
"hgvs_p": "p.Arg138His",
"transcript": "XM_047418254.1",
"protein_id": "XP_047274210.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 266,
"cds_start": 413,
"cds_end": null,
"cds_length": 801,
"cdna_start": 622,
"cdna_end": null,
"cdna_length": 1302,
"mane_select": null,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "n.697G>A",
"hgvs_p": null,
"transcript": "ENST00000462151.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
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}
],
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"dbsnp": "rs371626936",
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"hom_count_reference_population": 0,
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"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.592,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
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"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": "NM_005698.4",
"gene_symbol": "SCAMP3",
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"effects": [
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],
"inheritance_mode": "AR",
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"hgvs_p": "p.Arg219His"
},
{
"score": 3,
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"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000791655.1",
"gene_symbol": "ENSG00000303088",
"hgnc_id": null,
"effects": [
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],
"inheritance_mode": "",
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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
}