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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: 2-142927671-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=142927671&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 142927671,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_003937.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.303T>C",
"hgvs_p": "p.Gly101Gly",
"transcript": "NM_003937.3",
"protein_id": "NP_003928.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 465,
"cds_start": 303,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 15151,
"mane_select": "ENST00000264170.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003937.3"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.303T>C",
"hgvs_p": "p.Gly101Gly",
"transcript": "ENST00000264170.9",
"protein_id": "ENSP00000264170.4",
"transcript_support_level": 1,
"aa_start": 101,
"aa_end": null,
"aa_length": 465,
"cds_start": 303,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 15151,
"mane_select": "NM_003937.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264170.9"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.303T>C",
"hgvs_p": "p.Gly101Gly",
"transcript": "ENST00000409512.5",
"protein_id": "ENSP00000386731.1",
"transcript_support_level": 1,
"aa_start": 101,
"aa_end": null,
"aa_length": 465,
"cds_start": 303,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 1576,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409512.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.303T>C",
"hgvs_p": "p.Gly101Gly",
"transcript": "ENST00000375773.6",
"protein_id": "ENSP00000364928.2",
"transcript_support_level": 1,
"aa_start": 101,
"aa_end": null,
"aa_length": 307,
"cds_start": 303,
"cds_end": null,
"cds_length": 924,
"cdna_start": 402,
"cdna_end": null,
"cdna_length": 1772,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375773.6"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.303T>C",
"hgvs_p": "p.Gly101Gly",
"transcript": "ENST00000852084.1",
"protein_id": "ENSP00000522143.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 507,
"cds_start": 303,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 1776,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852084.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.411T>C",
"hgvs_p": "p.Gly137Gly",
"transcript": "ENST00000852077.1",
"protein_id": "ENSP00000522136.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 501,
"cds_start": 411,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 627,
"cdna_end": null,
"cdna_length": 1865,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852077.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.303T>C",
"hgvs_p": "p.Gly101Gly",
"transcript": "NM_001199241.2",
"protein_id": "NP_001186170.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 465,
"cds_start": 303,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 15237,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199241.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.303T>C",
"hgvs_p": "p.Gly101Gly",
"transcript": "ENST00000852080.1",
"protein_id": "ENSP00000522139.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 465,
"cds_start": 303,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 585,
"cdna_end": null,
"cdna_length": 1819,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852080.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.303T>C",
"hgvs_p": "p.Gly101Gly",
"transcript": "ENST00000852081.1",
"protein_id": "ENSP00000522140.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 465,
"cds_start": 303,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 590,
"cdna_end": null,
"cdna_length": 1820,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852081.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.303T>C",
"hgvs_p": "p.Gly101Gly",
"transcript": "ENST00000852082.1",
"protein_id": "ENSP00000522141.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 465,
"cds_start": 303,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 521,
"cdna_end": null,
"cdna_length": 1749,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852082.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.303T>C",
"hgvs_p": "p.Gly101Gly",
"transcript": "ENST00000852083.1",
"protein_id": "ENSP00000522142.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 465,
"cds_start": 303,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 584,
"cdna_end": null,
"cdna_length": 1812,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852083.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.303T>C",
"hgvs_p": "p.Gly101Gly",
"transcript": "ENST00000852085.1",
"protein_id": "ENSP00000522144.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 465,
"cds_start": 303,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 1870,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852085.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.303T>C",
"hgvs_p": "p.Gly101Gly",
"transcript": "ENST00000852088.1",
"protein_id": "ENSP00000522147.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 465,
"cds_start": 303,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 377,
"cdna_end": null,
"cdna_length": 1605,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852088.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.303T>C",
"hgvs_p": "p.Gly101Gly",
"transcript": "ENST00000852079.1",
"protein_id": "ENSP00000522138.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 443,
"cds_start": 303,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 431,
"cdna_end": null,
"cdna_length": 1603,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852079.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.303T>C",
"hgvs_p": "p.Gly101Gly",
"transcript": "ENST00000852076.1",
"protein_id": "ENSP00000522135.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 416,
"cds_start": 303,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 1773,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852076.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.303T>C",
"hgvs_p": "p.Gly101Gly",
"transcript": "ENST00000852078.1",
"protein_id": "ENSP00000522137.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 416,
"cds_start": 303,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 519,
"cdna_end": null,
"cdna_length": 1610,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852078.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.303T>C",
"hgvs_p": "p.Gly101Gly",
"transcript": "ENST00000852086.1",
"protein_id": "ENSP00000522145.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 416,
"cds_start": 303,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 554,
"cdna_end": null,
"cdna_length": 1635,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852086.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.303T>C",
"hgvs_p": "p.Gly101Gly",
"transcript": "ENST00000852087.1",
"protein_id": "ENSP00000522146.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 416,
"cds_start": 303,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 377,
"cdna_end": null,
"cdna_length": 1460,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852087.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.303T>C",
"hgvs_p": "p.Gly101Gly",
"transcript": "ENST00000970110.1",
"protein_id": "ENSP00000640169.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 394,
"cds_start": 303,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 396,
"cdna_end": null,
"cdna_length": 1409,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970110.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.303T>C",
"hgvs_p": "p.Gly101Gly",
"transcript": "NM_001032998.2",
"protein_id": "NP_001028170.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 307,
"cds_start": 303,
"cds_end": null,
"cds_length": 924,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 1778,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001032998.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.276T>C",
"hgvs_p": "p.Gly92Gly",
"transcript": "ENST00000621320.4",
"protein_id": "ENSP00000484801.1",
"transcript_support_level": 3,
"aa_start": 92,
"aa_end": null,
"aa_length": 236,
"cds_start": 276,
"cds_end": null,
"cds_length": 711,
"cdna_start": 276,
"cdna_end": null,
"cdna_length": 802,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621320.4"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.63T>C",
"hgvs_p": "p.Gly21Gly",
"transcript": "ENST00000612147.4",
"protein_id": "ENSP00000481930.1",
"transcript_support_level": 3,
"aa_start": 21,
"aa_end": null,
"aa_length": 167,
"cds_start": 63,
"cds_end": null,
"cds_length": 504,
"cdna_start": 64,
"cdna_end": null,
"cdna_length": 671,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612147.4"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
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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": "KYNU",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": -0.6200000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": 0.1223,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
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"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
"score": -5,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_003937.3",
"gene_symbol": "KYNU",
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"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
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},
{
"score": -4,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000797395.1",
"gene_symbol": "ENSG00000303829",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.134-1927A>G",
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}
],
"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
}