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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: 3-155829745-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=155829745&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 155829745,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_004733.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC33A1",
"gene_hgnc_id": 95,
"hgvs_c": "c.1425A>G",
"hgvs_p": "p.Thr475Thr",
"transcript": "NM_004733.4",
"protein_id": "NP_004724.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 549,
"cds_start": 1425,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000643144.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004733.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC33A1",
"gene_hgnc_id": 95,
"hgvs_c": "c.1425A>G",
"hgvs_p": "p.Thr475Thr",
"transcript": "ENST00000643144.2",
"protein_id": "ENSP00000496241.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 549,
"cds_start": 1425,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004733.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643144.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC33A1",
"gene_hgnc_id": 95,
"hgvs_c": "c.1425A>G",
"hgvs_p": "p.Thr475Thr",
"transcript": "ENST00000359479.7",
"protein_id": "ENSP00000352456.3",
"transcript_support_level": 1,
"aa_start": 475,
"aa_end": null,
"aa_length": 549,
"cds_start": 1425,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359479.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284952",
"gene_hgnc_id": null,
"hgvs_c": "n.*747A>G",
"hgvs_p": null,
"transcript": "ENST00000643876.1",
"protein_id": "ENSP00000495323.1",
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000643876.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284952",
"gene_hgnc_id": null,
"hgvs_c": "n.*747A>G",
"hgvs_p": null,
"transcript": "ENST00000643876.1",
"protein_id": "ENSP00000495323.1",
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000643876.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC33A1",
"gene_hgnc_id": 95,
"hgvs_c": "c.1548A>G",
"hgvs_p": "p.Thr516Thr",
"transcript": "ENST00000879568.1",
"protein_id": "ENSP00000549627.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 590,
"cds_start": 1548,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879568.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC33A1",
"gene_hgnc_id": 95,
"hgvs_c": "c.1425A>G",
"hgvs_p": "p.Thr475Thr",
"transcript": "NM_001190992.2",
"protein_id": "NP_001177921.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 549,
"cds_start": 1425,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001190992.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC33A1",
"gene_hgnc_id": 95,
"hgvs_c": "c.1119A>G",
"hgvs_p": "p.Thr373Thr",
"transcript": "NM_001363883.1",
"protein_id": "NP_001350812.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 447,
"cds_start": 1119,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363883.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC33A1",
"gene_hgnc_id": 95,
"hgvs_c": "c.1119A>G",
"hgvs_p": "p.Thr373Thr",
"transcript": "ENST00000646424.1",
"protein_id": "ENSP00000494846.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 447,
"cds_start": 1119,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646424.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC33A1",
"gene_hgnc_id": 95,
"hgvs_c": "c.786A>G",
"hgvs_p": "p.Thr262Thr",
"transcript": "ENST00000961491.1",
"protein_id": "ENSP00000631550.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 336,
"cds_start": 786,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961491.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC33A1",
"gene_hgnc_id": 95,
"hgvs_c": "c.582A>G",
"hgvs_p": "p.Thr194Thr",
"transcript": "ENST00000475842.5",
"protein_id": "ENSP00000419066.1",
"transcript_support_level": 3,
"aa_start": 194,
"aa_end": null,
"aa_length": 268,
"cds_start": 582,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000475842.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC33A1",
"gene_hgnc_id": 95,
"hgvs_c": "c.333A>G",
"hgvs_p": "p.Thr111Thr",
"transcript": "ENST00000496772.1",
"protein_id": "ENSP00000419165.1",
"transcript_support_level": 3,
"aa_start": 111,
"aa_end": null,
"aa_length": 184,
"cds_start": 333,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000496772.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC33A1",
"gene_hgnc_id": 95,
"hgvs_c": "c.1122A>G",
"hgvs_p": "p.Thr374Thr",
"transcript": "XM_011513311.4",
"protein_id": "XP_011511613.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 448,
"cds_start": 1122,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513311.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC33A1",
"gene_hgnc_id": 95,
"hgvs_c": "c.1122A>G",
"hgvs_p": "p.Thr374Thr",
"transcript": "XM_047449194.1",
"protein_id": "XP_047305150.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 448,
"cds_start": 1122,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449194.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC33A1",
"gene_hgnc_id": 95,
"hgvs_c": "c.1119A>G",
"hgvs_p": "p.Thr373Thr",
"transcript": "XM_047449195.1",
"protein_id": "XP_047305151.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 447,
"cds_start": 1119,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449195.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC33A1",
"gene_hgnc_id": 95,
"hgvs_c": "c.915A>G",
"hgvs_p": "p.Thr305Thr",
"transcript": "XM_017007463.2",
"protein_id": "XP_016862952.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 379,
"cds_start": 915,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007463.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC33A1",
"gene_hgnc_id": 95,
"hgvs_c": "c.915A>G",
"hgvs_p": "p.Thr305Thr",
"transcript": "XM_047449197.1",
"protein_id": "XP_047305153.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 379,
"cds_start": 915,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449197.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC33A1",
"gene_hgnc_id": 95,
"hgvs_c": "c.612A>G",
"hgvs_p": "p.Thr204Thr",
"transcript": "XM_017007464.2",
"protein_id": "XP_016862953.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 278,
"cds_start": 612,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007464.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC33A1",
"gene_hgnc_id": 95,
"hgvs_c": "c.612A>G",
"hgvs_p": "p.Thr204Thr",
"transcript": "XM_047449200.1",
"protein_id": "XP_047305156.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 278,
"cds_start": 612,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449200.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC33A1",
"gene_hgnc_id": 95,
"hgvs_c": "c.*128A>G",
"hgvs_p": null,
"transcript": "XM_047449196.1",
"protein_id": "XP_047305152.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 392,
"cds_start": null,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449196.1"
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SLC33A1",
"gene_hgnc_id": 95,
"hgvs_c": "c.1314+111A>G",
"hgvs_p": null,
"transcript": "ENST00000961492.1",
"protein_id": "ENSP00000631551.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 493,
"cds_start": null,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961492.1"
},
{
"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": 4,
"intron_rank_end": null,
"gene_symbol": "SLC33A1",
"gene_hgnc_id": 95,
"hgvs_c": "c.1267-1368A>G",
"hgvs_p": null,
"transcript": "ENST00000879567.1",
"protein_id": "ENSP00000549626.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 477,
"cds_start": null,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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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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"gene_symbol": "SLC33A1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000644855.1"
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],
"gene_symbol": "SLC33A1",
"gene_hgnc_id": 95,
"dbsnp": "rs777226978",
"frequency_reference_population": 0.00001115214,
"hom_count_reference_population": 0,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.000010261,
"gnomad_genomes_af": 0.0000197125,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.035999998450279236,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.036,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.76,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.167,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 3,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_004733.4",
"gene_symbol": "SLC33A1",
"hgnc_id": 95,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1425A>G",
"hgvs_p": "p.Thr475Thr"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000643876.1",
"gene_symbol": "ENSG00000284952",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*747A>G",
"hgvs_p": null
}
],
"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
}