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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: 4-62070529-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=62070529&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 62070529,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001387552.1",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.4253A>C",
"hgvs_p": "p.His1418Pro",
"transcript": "NM_001387552.1",
"protein_id": "NP_001374481.1",
"transcript_support_level": null,
"aa_start": 1418,
"aa_end": null,
"aa_length": 1543,
"cds_start": 4253,
"cds_end": null,
"cds_length": 4632,
"cdna_start": 5932,
"cdna_end": null,
"cdna_length": 13738,
"mane_select": "ENST00000683033.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387552.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.4253A>C",
"hgvs_p": "p.His1418Pro",
"transcript": "ENST00000683033.1",
"protein_id": "ENSP00000507980.1",
"transcript_support_level": null,
"aa_start": 1418,
"aa_end": null,
"aa_length": 1543,
"cds_start": 4253,
"cds_end": null,
"cds_length": 4632,
"cdna_start": 5932,
"cdna_end": null,
"cdna_length": 13738,
"mane_select": "NM_001387552.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683033.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.*360A>C",
"hgvs_p": null,
"transcript": "ENST00000512091.6",
"protein_id": "ENSP00000423388.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1240,
"cds_start": null,
"cds_end": null,
"cds_length": 3723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12636,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512091.6"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.4364A>C",
"hgvs_p": "p.His1455Pro",
"transcript": "ENST00000506720.5",
"protein_id": "ENSP00000420931.1",
"transcript_support_level": 5,
"aa_start": 1455,
"aa_end": null,
"aa_length": 1580,
"cds_start": 4364,
"cds_end": null,
"cds_length": 4743,
"cdna_start": 4364,
"cdna_end": null,
"cdna_length": 4962,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506720.5"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.4337A>C",
"hgvs_p": "p.His1446Pro",
"transcript": "ENST00000506746.5",
"protein_id": "ENSP00000425884.1",
"transcript_support_level": 5,
"aa_start": 1446,
"aa_end": null,
"aa_length": 1571,
"cds_start": 4337,
"cds_end": null,
"cds_length": 4716,
"cdna_start": 4337,
"cdna_end": null,
"cdna_length": 4935,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506746.5"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.4235A>C",
"hgvs_p": "p.His1412Pro",
"transcript": "NM_001322402.3",
"protein_id": "NP_001309331.1",
"transcript_support_level": null,
"aa_start": 1412,
"aa_end": null,
"aa_length": 1537,
"cds_start": 4235,
"cds_end": null,
"cds_length": 4614,
"cdna_start": 5914,
"cdna_end": null,
"cdna_length": 13720,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322402.3"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.4208A>C",
"hgvs_p": "p.His1403Pro",
"transcript": "NM_001371344.2",
"protein_id": "NP_001358273.1",
"transcript_support_level": null,
"aa_start": 1403,
"aa_end": null,
"aa_length": 1528,
"cds_start": 4208,
"cds_end": null,
"cds_length": 4587,
"cdna_start": 5821,
"cdna_end": null,
"cdna_length": 13627,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371344.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.4208A>C",
"hgvs_p": "p.His1403Pro",
"transcript": "NM_001387522.1",
"protein_id": "NP_001374451.1",
"transcript_support_level": null,
"aa_start": 1403,
"aa_end": null,
"aa_length": 1528,
"cds_start": 4208,
"cds_end": null,
"cds_length": 4587,
"cdna_start": 5887,
"cdna_end": null,
"cdna_length": 13693,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387522.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.4208A>C",
"hgvs_p": "p.His1403Pro",
"transcript": "ENST00000507625.5",
"protein_id": "ENSP00000421372.1",
"transcript_support_level": 5,
"aa_start": 1403,
"aa_end": null,
"aa_length": 1528,
"cds_start": 4208,
"cds_end": null,
"cds_length": 4587,
"cdna_start": 4314,
"cdna_end": null,
"cdna_length": 4843,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507625.5"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.4181A>C",
"hgvs_p": "p.His1394Pro",
"transcript": "NM_001387523.1",
"protein_id": "NP_001374452.1",
"transcript_support_level": null,
"aa_start": 1394,
"aa_end": null,
"aa_length": 1519,
"cds_start": 4181,
"cds_end": null,
"cds_length": 4560,
"cdna_start": 5860,
"cdna_end": null,
"cdna_length": 13666,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387523.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.4169A>C",
"hgvs_p": "p.His1390Pro",
"transcript": "NM_001371345.2",
"protein_id": "NP_001358274.1",
"transcript_support_level": null,
"aa_start": 1390,
"aa_end": null,
"aa_length": 1515,
"cds_start": 4169,
"cds_end": null,
"cds_length": 4548,
"cdna_start": 5782,
"cdna_end": null,
"cdna_length": 13588,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371345.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.4160A>C",
"hgvs_p": "p.His1387Pro",
"transcript": "ENST00000508946.5",
"protein_id": "ENSP00000421627.1",
"transcript_support_level": 5,
"aa_start": 1387,
"aa_end": null,
"aa_length": 1512,
"cds_start": 4160,
"cds_end": null,
"cds_length": 4539,
"cdna_start": 4160,
"cdna_end": null,
"cdna_length": 4758,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508946.5"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.4154A>C",
"hgvs_p": "p.His1385Pro",
"transcript": "NM_001371343.2",
"protein_id": "NP_001358272.1",
"transcript_support_level": null,
"aa_start": 1385,
"aa_end": null,
"aa_length": 1510,
"cds_start": 4154,
"cds_end": null,
"cds_length": 4533,
"cdna_start": 5833,
"cdna_end": null,
"cdna_length": 13639,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371343.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.4154A>C",
"hgvs_p": "p.His1385Pro",
"transcript": "NM_001387524.1",
"protein_id": "NP_001374453.1",
"transcript_support_level": null,
"aa_start": 1385,
"aa_end": null,
"aa_length": 1510,
"cds_start": 4154,
"cds_end": null,
"cds_length": 4533,
"cdna_start": 5833,
"cdna_end": null,
"cdna_length": 13639,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387524.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.4154A>C",
"hgvs_p": "p.His1385Pro",
"transcript": "NM_001387525.1",
"protein_id": "NP_001374454.1",
"transcript_support_level": null,
"aa_start": 1385,
"aa_end": null,
"aa_length": 1510,
"cds_start": 4154,
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"cdna_start": 5767,
"cdna_end": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001387525.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.4145A>C",
"hgvs_p": "p.His1382Pro",
"transcript": "NM_001387526.1",
"protein_id": "NP_001374455.1",
"transcript_support_level": null,
"aa_start": 1382,
"aa_end": null,
"aa_length": 1507,
"cds_start": 4145,
"cds_end": null,
"cds_length": 4524,
"cdna_start": 5758,
"cdna_end": null,
"cdna_length": 13564,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387526.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.4136A>C",
"hgvs_p": "p.His1379Pro",
"transcript": "NM_001387527.1",
"protein_id": "NP_001374456.1",
"transcript_support_level": null,
"aa_start": 1379,
"aa_end": null,
"aa_length": 1504,
"cds_start": 4136,
"cds_end": null,
"cds_length": 4515,
"cdna_start": 5749,
"cdna_end": null,
"cdna_length": 13555,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387527.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.4133A>C",
"hgvs_p": "p.His1378Pro",
"transcript": "ENST00000514996.5",
"protein_id": "ENSP00000424258.1",
"transcript_support_level": 5,
"aa_start": 1378,
"aa_end": null,
"aa_length": 1503,
"cds_start": 4133,
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"cdna_start": 4133,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514996.5"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.4049A>C",
"hgvs_p": "p.His1350Pro",
"transcript": "NM_001387528.1",
"protein_id": "NP_001374457.1",
"transcript_support_level": null,
"aa_start": 1350,
"aa_end": null,
"aa_length": 1475,
"cds_start": 4049,
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"cdna_start": 5662,
"cdna_end": null,
"cdna_length": 13468,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387528.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.4031A>C",
"hgvs_p": "p.His1344Pro",
"transcript": "NM_001387529.1",
"protein_id": "NP_001374458.1",
"transcript_support_level": null,
"aa_start": 1344,
"aa_end": null,
"aa_length": 1469,
"cds_start": 4031,
"cds_end": null,
"cds_length": 4410,
"cdna_start": 5644,
"cdna_end": null,
"cdna_length": 13450,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387529.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.4031A>C",
"hgvs_p": "p.His1344Pro",
"transcript": "NM_015236.7",
"protein_id": "NP_056051.2",
"transcript_support_level": null,
"aa_start": 1344,
"aa_end": null,
"aa_length": 1469,
"cds_start": 4031,
"cds_end": null,
"cds_length": 4410,
"cdna_start": 5710,
"cdna_end": null,
"cdna_length": 13516,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015236.7"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.4031A>C",
"hgvs_p": "p.His1344Pro",
"transcript": "ENST00000514591.5",
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{
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"biotype": "pseudogene",
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],
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"dbsnp": "rs1015778182",
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"computational_score_selected": 0.07961910963058472,
"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.17,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
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"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001387552.1",
"gene_symbol": "ADGRL3",
"hgnc_id": 20974,
"effects": [
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],
"inheritance_mode": "AD",
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},
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000801748.1",
"gene_symbol": "ADGRL3-AS1",
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"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
}