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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: 17-17847741-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=17847741&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 17847741,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001350332.2",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1418T>C",
"hgvs_p": "p.Met473Thr",
"transcript": "NM_001082968.2",
"protein_id": "NP_001076437.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 507,
"cds_start": 1418,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1505,
"cdna_end": null,
"cdna_length": 5735,
"mane_select": "ENST00000379504.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001082968.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1418T>C",
"hgvs_p": "p.Met473Thr",
"transcript": "ENST00000379504.8",
"protein_id": "ENSP00000368818.3",
"transcript_support_level": 2,
"aa_start": 473,
"aa_end": null,
"aa_length": 507,
"cds_start": 1418,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1505,
"cdna_end": null,
"cdna_length": 5735,
"mane_select": "NM_001082968.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379504.8"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1268T>C",
"hgvs_p": "p.Met423Thr",
"transcript": "ENST00000581396.6",
"protein_id": "ENSP00000464297.1",
"transcript_support_level": 1,
"aa_start": 423,
"aa_end": null,
"aa_length": 457,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 1365,
"cdna_end": null,
"cdna_length": 5599,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581396.6"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1673T>C",
"hgvs_p": "p.Met558Thr",
"transcript": "ENST00000890541.1",
"protein_id": "ENSP00000560600.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 592,
"cds_start": 1673,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1760,
"cdna_end": null,
"cdna_length": 5993,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890541.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1661T>C",
"hgvs_p": "p.Met554Thr",
"transcript": "ENST00000890561.1",
"protein_id": "ENSP00000560620.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 588,
"cds_start": 1661,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 1725,
"cdna_end": null,
"cdna_length": 1915,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890561.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1526T>C",
"hgvs_p": "p.Met509Thr",
"transcript": "ENST00000890555.1",
"protein_id": "ENSP00000560614.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 543,
"cds_start": 1526,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1610,
"cdna_end": null,
"cdna_length": 5267,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890555.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1505T>C",
"hgvs_p": "p.Met502Thr",
"transcript": "NM_001350332.2",
"protein_id": "NP_001337261.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 536,
"cds_start": 1505,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1592,
"cdna_end": null,
"cdna_length": 5822,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350332.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1505T>C",
"hgvs_p": "p.Met502Thr",
"transcript": "ENST00000890527.1",
"protein_id": "ENSP00000560585.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 536,
"cds_start": 1505,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1628,
"cdna_end": null,
"cdna_length": 5861,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890527.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1502T>C",
"hgvs_p": "p.Met501Thr",
"transcript": "ENST00000890553.1",
"protein_id": "ENSP00000560612.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 535,
"cds_start": 1502,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1586,
"cdna_end": null,
"cdna_length": 5816,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890553.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1487T>C",
"hgvs_p": "p.Met496Thr",
"transcript": "ENST00000890559.1",
"protein_id": "ENSP00000560618.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 530,
"cds_start": 1487,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1625,
"cdna_end": null,
"cdna_length": 1815,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890559.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1484T>C",
"hgvs_p": "p.Met495Thr",
"transcript": "ENST00000890537.1",
"protein_id": "ENSP00000560595.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 529,
"cds_start": 1484,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1586,
"cdna_end": null,
"cdna_length": 5817,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890537.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1484T>C",
"hgvs_p": "p.Met495Thr",
"transcript": "ENST00000950983.1",
"protein_id": "ENSP00000621042.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 529,
"cds_start": 1484,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1557,
"cdna_end": null,
"cdna_length": 5787,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950983.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1481T>C",
"hgvs_p": "p.Met494Thr",
"transcript": "ENST00000890535.1",
"protein_id": "ENSP00000560594.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 528,
"cds_start": 1481,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 1584,
"cdna_end": null,
"cdna_length": 5815,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890535.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1466T>C",
"hgvs_p": "p.Met489Thr",
"transcript": "ENST00000950984.1",
"protein_id": "ENSP00000621043.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 523,
"cds_start": 1466,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1495,
"cdna_end": null,
"cdna_length": 5722,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950984.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1415T>C",
"hgvs_p": "p.Met472Thr",
"transcript": "ENST00000890538.1",
"protein_id": "ENSP00000560596.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 506,
"cds_start": 1415,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 1512,
"cdna_end": null,
"cdna_length": 5742,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890538.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1370T>C",
"hgvs_p": "p.Met457Thr",
"transcript": "ENST00000890534.1",
"protein_id": "ENSP00000560592.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 491,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1473,
"cdna_end": null,
"cdna_length": 5706,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890534.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1358T>C",
"hgvs_p": "p.Met453Thr",
"transcript": "NM_001350333.2",
"protein_id": "NP_001337262.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 487,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1445,
"cdna_end": null,
"cdna_length": 5675,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350333.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1358T>C",
"hgvs_p": "p.Met453Thr",
"transcript": "ENST00000890524.1",
"protein_id": "ENSP00000560582.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 487,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1514,
"cdna_end": null,
"cdna_length": 5745,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890524.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1355T>C",
"hgvs_p": "p.Met452Thr",
"transcript": "ENST00000890539.1",
"protein_id": "ENSP00000560598.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 486,
"cds_start": 1355,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 1442,
"cdna_end": null,
"cdna_length": 5675,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890539.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1349T>C",
"hgvs_p": "p.Met450Thr",
"transcript": "ENST00000890549.1",
"protein_id": "ENSP00000560607.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 484,
"cds_start": 1349,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1446,
"cdna_end": null,
"cdna_length": 5664,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890549.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1346T>C",
"hgvs_p": "p.Met449Thr",
"transcript": "NM_001288786.2",
"protein_id": "NP_001275715.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 483,
"cds_start": 1346,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 1433,
"cdna_end": null,
"cdna_length": 5663,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288786.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1346T>C",
"hgvs_p": "p.Met449Thr",
"transcript": "ENST00000535933.5",
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{
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],
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{
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{
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],
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"biotype": "pseudogene",
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],
"gene_symbol": "TOM1L2",
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"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07087546586990356,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.033,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.675,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001350332.2",
"gene_symbol": "TOM1L2",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1505T>C",
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},
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000781607.1",
"gene_symbol": "ENSG00000301763",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.67+5132A>G",
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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
}