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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: 11-72308590-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=72308590&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 72308590,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000538039.6",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.1093G>A",
"hgvs_p": "p.Glu365Lys",
"transcript": "NM_030813.6",
"protein_id": "NP_110440.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 707,
"cds_start": 1093,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 1150,
"cdna_end": null,
"cdna_length": 10053,
"mane_select": null,
"mane_plus": "ENST00000294053.9",
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.1093G>A",
"hgvs_p": "p.Glu365Lys",
"transcript": "ENST00000294053.9",
"protein_id": "ENSP00000294053.3",
"transcript_support_level": 1,
"aa_start": 365,
"aa_end": null,
"aa_length": 707,
"cds_start": 1093,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 1150,
"cdna_end": null,
"cdna_length": 10053,
"mane_select": null,
"mane_plus": "NM_030813.6",
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.1003G>A",
"hgvs_p": "p.Glu335Lys",
"transcript": "NM_001258392.3",
"protein_id": "NP_001245321.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 677,
"cds_start": 1003,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1060,
"cdna_end": null,
"cdna_length": 9963,
"mane_select": "ENST00000538039.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.1003G>A",
"hgvs_p": "p.Glu335Lys",
"transcript": "ENST00000538039.6",
"protein_id": "ENSP00000441518.1",
"transcript_support_level": 2,
"aa_start": 335,
"aa_end": null,
"aa_length": 677,
"cds_start": 1003,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1060,
"cdna_end": null,
"cdna_length": 9963,
"mane_select": "NM_001258392.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.1093G>A",
"hgvs_p": "p.Glu365Lys",
"transcript": "ENST00000543042.6",
"protein_id": "ENSP00000439746.2",
"transcript_support_level": 2,
"aa_start": 365,
"aa_end": null,
"aa_length": 692,
"cds_start": 1093,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1226,
"cdna_end": null,
"cdna_length": 2276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.958G>A",
"hgvs_p": "p.Glu320Lys",
"transcript": "NM_001258394.3",
"protein_id": "NP_001245323.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 662,
"cds_start": 958,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 1257,
"cdna_end": null,
"cdna_length": 10160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.916G>A",
"hgvs_p": "p.Glu306Lys",
"transcript": "NM_001258393.3",
"protein_id": "NP_001245322.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 648,
"cds_start": 916,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 973,
"cdna_end": null,
"cdna_length": 9876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.916G>A",
"hgvs_p": "p.Glu306Lys",
"transcript": "ENST00000340729.9",
"protein_id": "ENSP00000340385.5",
"transcript_support_level": 2,
"aa_start": 306,
"aa_end": null,
"aa_length": 648,
"cds_start": 916,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 976,
"cdna_end": null,
"cdna_length": 2071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.490G>A",
"hgvs_p": "p.Glu164Lys",
"transcript": "ENST00000642288.1",
"protein_id": "ENSP00000495167.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 381,
"cds_start": 490,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 1421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.1006G>A",
"hgvs_p": "p.Glu336Lys",
"transcript": "XM_005274320.2",
"protein_id": "XP_005274377.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 678,
"cds_start": 1006,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 1063,
"cdna_end": null,
"cdna_length": 9966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.868G>A",
"hgvs_p": "p.Glu290Lys",
"transcript": "XM_047427655.1",
"protein_id": "XP_047283611.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 632,
"cds_start": 868,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 1167,
"cdna_end": null,
"cdna_length": 10070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.580G>A",
"hgvs_p": "p.Glu194Lys",
"transcript": "XM_047427656.1",
"protein_id": "XP_047283612.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 536,
"cds_start": 580,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1359,
"cdna_end": null,
"cdna_length": 10262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "n.*428G>A",
"hgvs_p": null,
"transcript": "ENST00000535477.6",
"protein_id": "ENSP00000440423.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "n.*693G>A",
"hgvs_p": null,
"transcript": "ENST00000535990.6",
"protein_id": "ENSP00000443822.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"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": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "n.426G>A",
"hgvs_p": null,
"transcript": "ENST00000544382.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 982,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "n.*85G>A",
"hgvs_p": null,
"transcript": "ENST00000642187.1",
"protein_id": "ENSP00000494594.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "n.421G>A",
"hgvs_p": null,
"transcript": "ENST00000645105.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "n.347G>A",
"hgvs_p": null,
"transcript": "ENST00000645650.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "n.1074G>A",
"hgvs_p": null,
"transcript": "ENST00000695924.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "n.1074G>A",
"hgvs_p": null,
"transcript": "ENST00000695925.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "n.*428G>A",
"hgvs_p": null,
"transcript": "ENST00000535477.6",
"protein_id": "ENSP00000440423.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "n.*693G>A",
"hgvs_p": null,
"transcript": "ENST00000535990.6",
"protein_id": "ENSP00000443822.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "n.*85G>A",
"hgvs_p": null,
"transcript": "ENST00000642187.1",
"protein_id": "ENSP00000494594.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 1609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
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"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.*2424G>A",
"hgvs_p": null,
"transcript": "XM_011545289.3",
"protein_id": "XP_011543591.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 371,
"cds_start": -4,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "n.-6G>A",
"hgvs_p": null,
"transcript": "ENST00000538021.5",
"protein_id": "ENSP00000445180.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"dbsnp": "rs765777645",
"frequency_reference_population": 0.0000027362514,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000273625,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7385640740394592,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.297,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9451,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.702,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000538039.6",
"gene_symbol": "CLPB",
"hgnc_id": 30664,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1003G>A",
"hgvs_p": "p.Glu335Lys"
}
],
"clinvar_disease": " type VIIB,3-methylglutaconic aciduria",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "3-methylglutaconic aciduria, type VIIB",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}