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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: 13-43883789-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=43883789&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 43883789,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000325686.7",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LACC1",
"gene_hgnc_id": 26789,
"hgvs_c": "c.760A>G",
"hgvs_p": "p.Ile254Val",
"transcript": "NM_153218.4",
"protein_id": "NP_694950.2",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 430,
"cds_start": 760,
"cds_end": null,
"cds_length": 1293,
"cdna_start": 1010,
"cdna_end": null,
"cdna_length": 4028,
"mane_select": "ENST00000325686.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LACC1",
"gene_hgnc_id": 26789,
"hgvs_c": "c.760A>G",
"hgvs_p": "p.Ile254Val",
"transcript": "ENST00000325686.7",
"protein_id": "ENSP00000317619.5",
"transcript_support_level": 1,
"aa_start": 254,
"aa_end": null,
"aa_length": 430,
"cds_start": 760,
"cds_end": null,
"cds_length": 1293,
"cdna_start": 1010,
"cdna_end": null,
"cdna_length": 4028,
"mane_select": "NM_153218.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LACC1",
"gene_hgnc_id": 26789,
"hgvs_c": "c.760A>G",
"hgvs_p": "p.Ile254Val",
"transcript": "NM_001128303.2",
"protein_id": "NP_001121775.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 430,
"cds_start": 760,
"cds_end": null,
"cds_length": 1293,
"cdna_start": 1351,
"cdna_end": null,
"cdna_length": 4369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LACC1",
"gene_hgnc_id": 26789,
"hgvs_c": "c.760A>G",
"hgvs_p": "p.Ile254Val",
"transcript": "NM_001350638.2",
"protein_id": "NP_001337567.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 430,
"cds_start": 760,
"cds_end": null,
"cds_length": 1293,
"cdna_start": 1160,
"cdna_end": null,
"cdna_length": 4178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LACC1",
"gene_hgnc_id": 26789,
"hgvs_c": "c.760A>G",
"hgvs_p": "p.Ile254Val",
"transcript": "NM_001350639.2",
"protein_id": "NP_001337568.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 430,
"cds_start": 760,
"cds_end": null,
"cds_length": 1293,
"cdna_start": 1006,
"cdna_end": null,
"cdna_length": 4024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LACC1",
"gene_hgnc_id": 26789,
"hgvs_c": "c.760A>G",
"hgvs_p": "p.Ile254Val",
"transcript": "NM_001350640.2",
"protein_id": "NP_001337569.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 430,
"cds_start": 760,
"cds_end": null,
"cds_length": 1293,
"cdna_start": 965,
"cdna_end": null,
"cdna_length": 3983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LACC1",
"gene_hgnc_id": 26789,
"hgvs_c": "c.760A>G",
"hgvs_p": "p.Ile254Val",
"transcript": "NM_001350641.2",
"protein_id": "NP_001337570.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 430,
"cds_start": 760,
"cds_end": null,
"cds_length": 1293,
"cdna_start": 1169,
"cdna_end": null,
"cdna_length": 4187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LACC1",
"gene_hgnc_id": 26789,
"hgvs_c": "c.760A>G",
"hgvs_p": "p.Ile254Val",
"transcript": "NM_001350642.2",
"protein_id": "NP_001337571.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 430,
"cds_start": 760,
"cds_end": null,
"cds_length": 1293,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 4161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LACC1",
"gene_hgnc_id": 26789,
"hgvs_c": "c.760A>G",
"hgvs_p": "p.Ile254Val",
"transcript": "ENST00000441843.5",
"protein_id": "ENSP00000391747.1",
"transcript_support_level": 5,
"aa_start": 254,
"aa_end": null,
"aa_length": 430,
"cds_start": 760,
"cds_end": null,
"cds_length": 1293,
"cdna_start": 1245,
"cdna_end": null,
"cdna_length": 4262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LACC1",
"gene_hgnc_id": 26789,
"hgvs_c": "c.760A>G",
"hgvs_p": "p.Ile254Val",
"transcript": "NM_001350643.2",
"protein_id": "NP_001337572.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 428,
"cds_start": 760,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 1010,
"cdna_end": null,
"cdna_length": 3867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LACC1",
"gene_hgnc_id": 26789,
"hgvs_c": "c.760A>G",
"hgvs_p": "p.Ile254Val",
"transcript": "XM_047430099.1",
"protein_id": "XP_047286055.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 430,
"cds_start": 760,
"cds_end": null,
"cds_length": 1293,
"cdna_start": 1169,
"cdna_end": null,
"cdna_length": 1708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LACC1",
"gene_hgnc_id": 26789,
"hgvs_c": "c.760A>G",
"hgvs_p": "p.Ile254Val",
"transcript": "XM_047430100.1",
"protein_id": "XP_047286056.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 430,
"cds_start": 760,
"cds_end": null,
"cds_length": 1293,
"cdna_start": 872,
"cdna_end": null,
"cdna_length": 1405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LACC1",
"gene_hgnc_id": 26789,
"hgvs_c": "c.760A>G",
"hgvs_p": "p.Ile254Val",
"transcript": "XM_047430101.1",
"protein_id": "XP_047286057.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 428,
"cds_start": 760,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 1169,
"cdna_end": null,
"cdna_length": 4026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LACC1",
"gene_hgnc_id": 26789,
"hgvs_c": "c.760A>G",
"hgvs_p": "p.Ile254Val",
"transcript": "XM_047430102.1",
"protein_id": "XP_047286058.1",
"transcript_support_level": null,
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"cds_start": 760,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LACC1",
"gene_hgnc_id": 26789,
"hgvs_c": "c.760A>G",
"hgvs_p": "p.Ile254Val",
"transcript": "XM_047430103.1",
"protein_id": "XP_047286059.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 428,
"cds_start": 760,
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"cds_length": 1287,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 4000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LACC1",
"gene_hgnc_id": 26789,
"hgvs_c": "c.760A>G",
"hgvs_p": "p.Ile254Val",
"transcript": "XM_047430104.1",
"protein_id": "XP_047286060.1",
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"aa_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LACC1",
"gene_hgnc_id": 26789,
"hgvs_c": "c.760A>G",
"hgvs_p": "p.Ile254Val",
"transcript": "XM_047430105.1",
"protein_id": "XP_047286061.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 428,
"cds_start": 760,
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"cds_length": 1287,
"cdna_start": 872,
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"cdna_length": 3729,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "I",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LACC1",
"gene_hgnc_id": 26789,
"hgvs_c": "c.760A>G",
"hgvs_p": "p.Ile254Val",
"transcript": "XM_011534935.4",
"protein_id": "XP_011533237.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 318,
"cds_start": 760,
"cds_end": null,
"cds_length": 957,
"cdna_start": 1169,
"cdna_end": null,
"cdna_length": 3188,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "I",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LACC1",
"gene_hgnc_id": 26789,
"hgvs_c": "c.760A>G",
"hgvs_p": "p.Ile254Val",
"transcript": "XM_024449319.2",
"protein_id": "XP_024305087.1",
"transcript_support_level": null,
"aa_start": 254,
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"feature": null
},
{
"aa_ref": "I",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LACC1",
"gene_hgnc_id": 26789,
"hgvs_c": "c.760A>G",
"hgvs_p": "p.Ile254Val",
"transcript": "XM_047430106.1",
"protein_id": "XP_047286062.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 318,
"cds_start": 760,
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"cdna_start": 1555,
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"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LACC1",
"gene_hgnc_id": 26789,
"hgvs_c": "c.760A>G",
"hgvs_p": "p.Ile254Val",
"transcript": "XM_047430107.1",
"protein_id": "XP_047286063.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 318,
"cds_start": 760,
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"cds_length": 957,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 3162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LACC1",
"gene_hgnc_id": 26789,
"hgvs_c": "c.760A>G",
"hgvs_p": "p.Ile254Val",
"transcript": "XM_047430108.1",
"protein_id": "XP_047286064.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 318,
"cds_start": 760,
"cds_end": null,
"cds_length": 957,
"cdna_start": 965,
"cdna_end": null,
"cdna_length": 2984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LACC1",
"gene_hgnc_id": 26789,
"hgvs_c": "c.760A>G",
"hgvs_p": "p.Ile254Val",
"transcript": "XM_047430109.1",
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}
],
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"dbsnp": "rs3764147",
"frequency_reference_population": 0.23886254,
"hom_count_reference_population": 48467,
"allele_count_reference_population": 384562,
"gnomad_exomes_af": 0.235754,
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"gnomad_exomes_ac": 343712,
"gnomad_genomes_ac": 40850,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.004323631525039673,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.036,
"revel_prediction": "Benign",
"alphamissense_score": 0.0564,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.76,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.74,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
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"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000325686.7",
"gene_symbol": "LACC1",
"hgnc_id": 26789,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.760A>G",
"hgvs_p": "p.Ile254Val"
},
{
"score": -20,
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"criteria": [
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"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000627615.1",
"gene_symbol": "ENSG00000281883",
"hgnc_id": null,
"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.-12A>G",
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}
],
"clinvar_disease": " 1, susceptibility to,Juvenile arthritis due to defect in LACC1,Leprosy,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "Juvenile arthritis due to defect in LACC1|Leprosy, susceptibility to, 1|not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}