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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: 15-78009059-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=78009059&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 78009059,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001387142.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D2B",
"gene_hgnc_id": 29183,
"hgvs_c": "c.2326G>A",
"hgvs_p": "p.Val776Ile",
"transcript": "NM_144572.2",
"protein_id": "NP_653173.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 963,
"cds_start": 2326,
"cds_end": null,
"cds_length": 2892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000300584.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144572.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D2B",
"gene_hgnc_id": 29183,
"hgvs_c": "c.2326G>A",
"hgvs_p": "p.Val776Ile",
"transcript": "ENST00000300584.8",
"protein_id": "ENSP00000300584.3",
"transcript_support_level": 5,
"aa_start": 776,
"aa_end": null,
"aa_length": 963,
"cds_start": 2326,
"cds_end": null,
"cds_length": 2892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_144572.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000300584.8"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D2B",
"gene_hgnc_id": 29183,
"hgvs_c": "c.2326G>A",
"hgvs_p": "p.Val776Ile",
"transcript": "ENST00000409931.7",
"protein_id": "ENSP00000387165.3",
"transcript_support_level": 1,
"aa_start": 776,
"aa_end": null,
"aa_length": 914,
"cds_start": 2326,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409931.7"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D2B",
"gene_hgnc_id": 29183,
"hgvs_c": "c.2326G>A",
"hgvs_p": "p.Val776Ile",
"transcript": "NM_001387142.1",
"protein_id": "NP_001374071.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 974,
"cds_start": 2326,
"cds_end": null,
"cds_length": 2925,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387142.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D2B",
"gene_hgnc_id": 29183,
"hgvs_c": "c.2326G>A",
"hgvs_p": "p.Val776Ile",
"transcript": "ENST00000936499.1",
"protein_id": "ENSP00000606558.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 964,
"cds_start": 2326,
"cds_end": null,
"cds_length": 2895,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936499.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D2B",
"gene_hgnc_id": 29183,
"hgvs_c": "c.2323G>A",
"hgvs_p": "p.Val775Ile",
"transcript": "NM_001387143.1",
"protein_id": "NP_001374072.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 962,
"cds_start": 2323,
"cds_end": null,
"cds_length": 2889,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387143.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D2B",
"gene_hgnc_id": 29183,
"hgvs_c": "c.2326G>A",
"hgvs_p": "p.Val776Ile",
"transcript": "NM_001387144.1",
"protein_id": "NP_001374073.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 959,
"cds_start": 2326,
"cds_end": null,
"cds_length": 2880,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387144.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D2B",
"gene_hgnc_id": 29183,
"hgvs_c": "c.2326G>A",
"hgvs_p": "p.Val776Ile",
"transcript": "ENST00000971562.1",
"protein_id": "ENSP00000641621.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 952,
"cds_start": 2326,
"cds_end": null,
"cds_length": 2859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971562.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D2B",
"gene_hgnc_id": 29183,
"hgvs_c": "c.2215G>A",
"hgvs_p": "p.Val739Ile",
"transcript": "ENST00000936500.1",
"protein_id": "ENSP00000606559.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 926,
"cds_start": 2215,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936500.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D2B",
"gene_hgnc_id": 29183,
"hgvs_c": "c.2326G>A",
"hgvs_p": "p.Val776Ile",
"transcript": "NM_015079.6",
"protein_id": "NP_055894.6",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 914,
"cds_start": 2326,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015079.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D2B",
"gene_hgnc_id": 29183,
"hgvs_c": "c.2131G>A",
"hgvs_p": "p.Val711Ile",
"transcript": "ENST00000971560.1",
"protein_id": "ENSP00000641619.1",
"transcript_support_level": null,
"aa_start": 711,
"aa_end": null,
"aa_length": 898,
"cds_start": 2131,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971560.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D2B",
"gene_hgnc_id": 29183,
"hgvs_c": "c.1990G>A",
"hgvs_p": "p.Val664Ile",
"transcript": "NM_001387145.1",
"protein_id": "NP_001374074.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 862,
"cds_start": 1990,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387145.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D2B",
"gene_hgnc_id": 29183,
"hgvs_c": "c.1990G>A",
"hgvs_p": "p.Val664Ile",
"transcript": "NM_001387146.1",
"protein_id": "NP_001374075.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 861,
"cds_start": 1990,
"cds_end": null,
"cds_length": 2586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387146.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D2B",
"gene_hgnc_id": 29183,
"hgvs_c": "c.1990G>A",
"hgvs_p": "p.Val664Ile",
"transcript": "NM_001387147.1",
"protein_id": "NP_001374076.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 851,
"cds_start": 1990,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387147.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D2B",
"gene_hgnc_id": 29183,
"hgvs_c": "c.1990G>A",
"hgvs_p": "p.Val664Ile",
"transcript": "NM_001387148.1",
"protein_id": "NP_001374077.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 847,
"cds_start": 1990,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387148.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D2B",
"gene_hgnc_id": 29183,
"hgvs_c": "c.1876G>A",
"hgvs_p": "p.Val626Ile",
"transcript": "NM_001387149.1",
"protein_id": "NP_001374078.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 813,
"cds_start": 1876,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387149.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D2B",
"gene_hgnc_id": 29183,
"hgvs_c": "c.1831G>A",
"hgvs_p": "p.Val611Ile",
"transcript": "ENST00000971561.1",
"protein_id": "ENSP00000641620.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 798,
"cds_start": 1831,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971561.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D2B",
"gene_hgnc_id": 29183,
"hgvs_c": "c.2215G>A",
"hgvs_p": "p.Val739Ile",
"transcript": "XM_011521387.3",
"protein_id": "XP_011519689.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 926,
"cds_start": 2215,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521387.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D2B",
"gene_hgnc_id": 29183,
"hgvs_c": "c.2326G>A",
"hgvs_p": "p.Val776Ile",
"transcript": "XM_047432267.1",
"protein_id": "XP_047288223.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 911,
"cds_start": 2326,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432267.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D2B",
"gene_hgnc_id": 29183,
"hgvs_c": "c.1636G>A",
"hgvs_p": "p.Val546Ile",
"transcript": "XM_047432269.1",
"protein_id": "XP_047288225.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 733,
"cds_start": 1636,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432269.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D2B",
"gene_hgnc_id": 29183,
"hgvs_c": "c.1636G>A",
"hgvs_p": "p.Val546Ile",
"transcript": "XM_047432270.1",
"protein_id": "XP_047288226.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 733,
"cds_start": 1636,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432270.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D2B",
"gene_hgnc_id": 29183,
"hgvs_c": "c.1636G>A",
"hgvs_p": "p.Val546Ile",
"transcript": "XM_047432271.1",
"protein_id": "XP_047288227.1",
"transcript_support_level": null,
"aa_start": 546,
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"aa_length": 733,
"cds_start": 1636,
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"cds_length": 2202,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432271.1"
},
{
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TBC1D2B",
"gene_hgnc_id": 29183,
"hgvs_c": "c.2270+3764G>A",
"hgvs_p": null,
"transcript": "XM_047432268.1",
"protein_id": "XP_047288224.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 766,
"cds_start": null,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432268.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D2B",
"gene_hgnc_id": 29183,
"hgvs_c": "n.1292G>A",
"hgvs_p": null,
"transcript": "ENST00000472786.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000472786.1"
}
],
"gene_symbol": "TBC1D2B",
"gene_hgnc_id": 29183,
"dbsnp": "rs138371601",
"frequency_reference_population": 0.000015537891,
"hom_count_reference_population": 0,
"allele_count_reference_population": 25,
"gnomad_exomes_af": 0.0000130428,
"gnomad_genomes_af": 0.000039414,
"gnomad_exomes_ac": 19,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1447751224040985,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.079,
"revel_prediction": "Benign",
"alphamissense_score": 0.1013,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.641,
"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,
"mitotip_prediction": null,
"acmg_score": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BS1_Supporting",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BS1_Supporting"
],
"verdict": "Likely_benign",
"transcript": "NM_001387142.1",
"gene_symbol": "TBC1D2B",
"hgnc_id": 29183,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2326G>A",
"hgvs_p": "p.Val776Ile"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}