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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: 9-97036653-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=97036653&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 97036653,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001333.4",
"consequences": [
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSV",
"gene_hgnc_id": 2538,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Gln164Arg",
"transcript": "NM_001333.4",
"protein_id": "NP_001324.2",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 334,
"cds_start": 491,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 573,
"cdna_end": null,
"cdna_length": 4359,
"mane_select": "ENST00000259470.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001333.4"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"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": "CTSV",
"gene_hgnc_id": 2538,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Gln164Arg",
"transcript": "ENST00000259470.6",
"protein_id": "ENSP00000259470.5",
"transcript_support_level": 1,
"aa_start": 164,
"aa_end": null,
"aa_length": 334,
"cds_start": 491,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 573,
"cdna_end": null,
"cdna_length": 4359,
"mane_select": "NM_001333.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000259470.6"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "CTSV",
"gene_hgnc_id": 2538,
"hgvs_c": "c.344A>G",
"hgvs_p": "p.Gln115Arg",
"transcript": "ENST00000538255.6",
"protein_id": "ENSP00000445052.2",
"transcript_support_level": 1,
"aa_start": 115,
"aa_end": null,
"aa_length": 285,
"cds_start": 344,
"cds_end": null,
"cds_length": 858,
"cdna_start": 386,
"cdna_end": null,
"cdna_length": 4172,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538255.6"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSV",
"gene_hgnc_id": 2538,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Gln164Arg",
"transcript": "NM_001201575.2",
"protein_id": "NP_001188504.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 334,
"cds_start": 491,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 538,
"cdna_end": null,
"cdna_length": 4324,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001201575.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "CTSV",
"gene_hgnc_id": 2538,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Gln164Arg",
"transcript": "ENST00000679661.1",
"protein_id": "ENSP00000506713.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 334,
"cds_start": 491,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 793,
"cdna_end": null,
"cdna_length": 1601,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679661.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSV",
"gene_hgnc_id": 2538,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Gln164Arg",
"transcript": "ENST00000681737.1",
"protein_id": "ENSP00000505681.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 334,
"cds_start": 491,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 704,
"cdna_end": null,
"cdna_length": 1512,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681737.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "CTSV",
"gene_hgnc_id": 2538,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Gln164Arg",
"transcript": "ENST00000681927.1",
"protein_id": "ENSP00000505141.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 334,
"cds_start": 491,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 4497,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681927.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSV",
"gene_hgnc_id": 2538,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Gln164Arg",
"transcript": "ENST00000930701.1",
"protein_id": "ENSP00000600760.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 334,
"cds_start": 491,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 1659,
"cdna_end": null,
"cdna_length": 2467,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930701.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSV",
"gene_hgnc_id": 2538,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Gln164Arg",
"transcript": "ENST00000930702.1",
"protein_id": "ENSP00000600761.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 334,
"cds_start": 491,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 568,
"cdna_end": null,
"cdna_length": 5047,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930702.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSV",
"gene_hgnc_id": 2538,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Gln164Arg",
"transcript": "ENST00000930703.1",
"protein_id": "ENSP00000600762.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 334,
"cds_start": 491,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 1507,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930703.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "CTSV",
"gene_hgnc_id": 2538,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Gln164Arg",
"transcript": "ENST00000930707.1",
"protein_id": "ENSP00000600766.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 334,
"cds_start": 491,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 666,
"cdna_end": null,
"cdna_length": 1474,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930707.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "CTSV",
"gene_hgnc_id": 2538,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Gln164Arg",
"transcript": "ENST00000930711.1",
"protein_id": "ENSP00000600770.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 334,
"cds_start": 491,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 817,
"cdna_end": null,
"cdna_length": 1617,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930711.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSV",
"gene_hgnc_id": 2538,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Gln164Arg",
"transcript": "ENST00000851836.1",
"protein_id": "ENSP00000521895.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 333,
"cds_start": 491,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 3935,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851836.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSV",
"gene_hgnc_id": 2538,
"hgvs_c": "c.485A>G",
"hgvs_p": "p.Gln162Arg",
"transcript": "ENST00000680221.1",
"protein_id": "ENSP00000505001.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 332,
"cds_start": 485,
"cds_end": null,
"cds_length": 999,
"cdna_start": 564,
"cdna_end": null,
"cdna_length": 1372,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680221.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSV",
"gene_hgnc_id": 2538,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Gln164Arg",
"transcript": "ENST00000930705.1",
"protein_id": "ENSP00000600764.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 328,
"cds_start": 491,
"cds_end": null,
"cds_length": 987,
"cdna_start": 571,
"cdna_end": null,
"cdna_length": 1361,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930705.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSV",
"gene_hgnc_id": 2538,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Gln164Arg",
"transcript": "ENST00000930709.1",
"protein_id": "ENSP00000600768.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 327,
"cds_start": 491,
"cds_end": null,
"cds_length": 984,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 1357,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930709.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "CTSV",
"gene_hgnc_id": 2538,
"hgvs_c": "c.368A>G",
"hgvs_p": "p.Gln123Arg",
"transcript": "ENST00000930710.1",
"protein_id": "ENSP00000600769.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 293,
"cds_start": 368,
"cds_end": null,
"cds_length": 882,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 1252,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930710.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSV",
"gene_hgnc_id": 2538,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Gln164Arg",
"transcript": "ENST00000930708.1",
"protein_id": "ENSP00000600767.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 280,
"cds_start": 491,
"cds_end": null,
"cds_length": 843,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 1216,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930708.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CTSV",
"gene_hgnc_id": 2538,
"hgvs_c": "c.396+599A>G",
"hgvs_p": null,
"transcript": "ENST00000930704.1",
"protein_id": "ENSP00000600763.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 259,
"cds_start": null,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1229,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930704.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CTSV",
"gene_hgnc_id": 2538,
"hgvs_c": "c.249+840A>G",
"hgvs_p": null,
"transcript": "ENST00000680490.1",
"protein_id": "ENSP00000505355.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 210,
"cds_start": null,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3915,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680490.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CTSV",
"gene_hgnc_id": 2538,
"hgvs_c": "c.127-960A>G",
"hgvs_p": null,
"transcript": "ENST00000930706.1",
"protein_id": "ENSP00000600765.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 169,
"cds_start": null,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 883,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930706.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSV",
"gene_hgnc_id": 2538,
"hgvs_c": "n.1010A>G",
"hgvs_p": null,
"transcript": "ENST00000479932.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1409,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000479932.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
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{
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{
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{
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{
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{
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],
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{
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],
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"feature": "ENST00000681330.1"
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],
"gene_symbol": "CTSV",
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"dbsnp": "rs1828856773",
"frequency_reference_population": 0.000025403135,
"hom_count_reference_population": 0,
"allele_count_reference_population": 41,
"gnomad_exomes_af": 0.0000273618,
"gnomad_genomes_af": 0.0000065754,
"gnomad_exomes_ac": 40,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9835635423660278,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.579,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8653,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.19,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.565,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001333.4",
"gene_symbol": "CTSV",
"hgnc_id": 2538,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Gln164Arg"
}
],
"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
}