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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: 8-144393732-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144393732&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 144393732,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_013291.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.4080G>A",
"hgvs_p": "p.Leu1360Leu",
"transcript": "NM_013291.3",
"protein_id": "NP_037423.2",
"transcript_support_level": null,
"aa_start": 1360,
"aa_end": null,
"aa_length": 1443,
"cds_start": 4080,
"cds_end": null,
"cds_length": 4332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000616140.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013291.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.4080G>A",
"hgvs_p": "p.Leu1360Leu",
"transcript": "ENST00000616140.2",
"protein_id": "ENSP00000484669.1",
"transcript_support_level": 1,
"aa_start": 1360,
"aa_end": null,
"aa_length": 1443,
"cds_start": 4080,
"cds_end": null,
"cds_length": 4332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013291.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616140.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.4080G>A",
"hgvs_p": "p.Leu1360Leu",
"transcript": "ENST00000620219.4",
"protein_id": "ENSP00000478145.1",
"transcript_support_level": 1,
"aa_start": 1360,
"aa_end": null,
"aa_length": 1443,
"cds_start": 4080,
"cds_end": null,
"cds_length": 4332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620219.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.4104G>A",
"hgvs_p": "p.Leu1368Leu",
"transcript": "ENST00000886816.1",
"protein_id": "ENSP00000556875.1",
"transcript_support_level": null,
"aa_start": 1368,
"aa_end": null,
"aa_length": 1451,
"cds_start": 4104,
"cds_end": null,
"cds_length": 4356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886816.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.4077G>A",
"hgvs_p": "p.Leu1359Leu",
"transcript": "ENST00000886809.1",
"protein_id": "ENSP00000556868.1",
"transcript_support_level": null,
"aa_start": 1359,
"aa_end": null,
"aa_length": 1442,
"cds_start": 4077,
"cds_end": null,
"cds_length": 4329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886809.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.4077G>A",
"hgvs_p": "p.Leu1359Leu",
"transcript": "ENST00000886811.1",
"protein_id": "ENSP00000556870.1",
"transcript_support_level": null,
"aa_start": 1359,
"aa_end": null,
"aa_length": 1442,
"cds_start": 4077,
"cds_end": null,
"cds_length": 4329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886811.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.4077G>A",
"hgvs_p": "p.Leu1359Leu",
"transcript": "ENST00000886813.1",
"protein_id": "ENSP00000556872.1",
"transcript_support_level": null,
"aa_start": 1359,
"aa_end": null,
"aa_length": 1442,
"cds_start": 4077,
"cds_end": null,
"cds_length": 4329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886813.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.4077G>A",
"hgvs_p": "p.Leu1359Leu",
"transcript": "ENST00000913997.1",
"protein_id": "ENSP00000584056.1",
"transcript_support_level": null,
"aa_start": 1359,
"aa_end": null,
"aa_length": 1442,
"cds_start": 4077,
"cds_end": null,
"cds_length": 4329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913997.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.4077G>A",
"hgvs_p": "p.Leu1359Leu",
"transcript": "ENST00000913998.1",
"protein_id": "ENSP00000584057.1",
"transcript_support_level": null,
"aa_start": 1359,
"aa_end": null,
"aa_length": 1442,
"cds_start": 4077,
"cds_end": null,
"cds_length": 4329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913998.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.4074G>A",
"hgvs_p": "p.Leu1358Leu",
"transcript": "ENST00000886814.1",
"protein_id": "ENSP00000556873.1",
"transcript_support_level": null,
"aa_start": 1358,
"aa_end": null,
"aa_length": 1441,
"cds_start": 4074,
"cds_end": null,
"cds_length": 4326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886814.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.4071G>A",
"hgvs_p": "p.Leu1357Leu",
"transcript": "ENST00000886810.1",
"protein_id": "ENSP00000556869.1",
"transcript_support_level": null,
"aa_start": 1357,
"aa_end": null,
"aa_length": 1440,
"cds_start": 4071,
"cds_end": null,
"cds_length": 4323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886810.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.4071G>A",
"hgvs_p": "p.Leu1357Leu",
"transcript": "ENST00000886815.1",
"protein_id": "ENSP00000556874.1",
"transcript_support_level": null,
"aa_start": 1357,
"aa_end": null,
"aa_length": 1440,
"cds_start": 4071,
"cds_end": null,
"cds_length": 4323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886815.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.4071G>A",
"hgvs_p": "p.Leu1357Leu",
"transcript": "ENST00000913996.1",
"protein_id": "ENSP00000584055.1",
"transcript_support_level": null,
"aa_start": 1357,
"aa_end": null,
"aa_length": 1440,
"cds_start": 4071,
"cds_end": null,
"cds_length": 4323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913996.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.4065G>A",
"hgvs_p": "p.Leu1355Leu",
"transcript": "ENST00000886812.1",
"protein_id": "ENSP00000556871.1",
"transcript_support_level": null,
"aa_start": 1355,
"aa_end": null,
"aa_length": 1438,
"cds_start": 4065,
"cds_end": null,
"cds_length": 4317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886812.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.4065G>A",
"hgvs_p": "p.Leu1355Leu",
"transcript": "ENST00000886817.1",
"protein_id": "ENSP00000556876.1",
"transcript_support_level": null,
"aa_start": 1355,
"aa_end": null,
"aa_length": 1438,
"cds_start": 4065,
"cds_end": null,
"cds_length": 4317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886817.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.4065G>A",
"hgvs_p": "p.Leu1355Leu",
"transcript": "ENST00000913994.1",
"protein_id": "ENSP00000584053.1",
"transcript_support_level": null,
"aa_start": 1355,
"aa_end": null,
"aa_length": 1438,
"cds_start": 4065,
"cds_end": null,
"cds_length": 4317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913994.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.4062G>A",
"hgvs_p": "p.Leu1354Leu",
"transcript": "ENST00000886818.1",
"protein_id": "ENSP00000556877.1",
"transcript_support_level": null,
"aa_start": 1354,
"aa_end": null,
"aa_length": 1437,
"cds_start": 4062,
"cds_end": null,
"cds_length": 4314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886818.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.4056G>A",
"hgvs_p": "p.Leu1352Leu",
"transcript": "ENST00000886819.1",
"protein_id": "ENSP00000556878.1",
"transcript_support_level": null,
"aa_start": 1352,
"aa_end": null,
"aa_length": 1435,
"cds_start": 4056,
"cds_end": null,
"cds_length": 4308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886819.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.3990G>A",
"hgvs_p": "p.Leu1330Leu",
"transcript": "ENST00000913993.1",
"protein_id": "ENSP00000584052.1",
"transcript_support_level": null,
"aa_start": 1330,
"aa_end": null,
"aa_length": 1413,
"cds_start": 3990,
"cds_end": null,
"cds_length": 4242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913993.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.3888G>A",
"hgvs_p": "p.Leu1296Leu",
"transcript": "ENST00000913995.1",
"protein_id": "ENSP00000584054.1",
"transcript_support_level": null,
"aa_start": 1296,
"aa_end": null,
"aa_length": 1379,
"cds_start": 3888,
"cds_end": null,
"cds_length": 4140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913995.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"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": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.363G>A",
"hgvs_p": "p.Leu121Leu",
"transcript": "ENST00000531727.5",
"protein_id": "ENSP00000483775.1",
"transcript_support_level": 3,
"aa_start": 121,
"aa_end": null,
"aa_length": 204,
"cds_start": 363,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531727.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.4071G>A",
"hgvs_p": "p.Leu1357Leu",
"transcript": "XM_006716548.3",
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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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],
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{
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{
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],
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"transcript": "ENST00000532935.5",
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],
"gene_symbol": "CPSF1",
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"dbsnp": "rs118182362",
"frequency_reference_population": 0.0018012172,
"hom_count_reference_population": 2,
"allele_count_reference_population": 2837,
"gnomad_exomes_af": 0.00187934,
"gnomad_genomes_af": 0.00107093,
"gnomad_exomes_ac": 2674,
"gnomad_genomes_ac": 163,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5400000214576721,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.327,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -15,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 15,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_013291.3",
"gene_symbol": "CPSF1",
"hgnc_id": 2324,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4080G>A",
"hgvs_p": "p.Leu1360Leu"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}