← Back to variant description
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: 5-110528675-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=110528675&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 110528675,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001039763.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM232",
"gene_hgnc_id": 37270,
"hgvs_c": "c.1616A>C",
"hgvs_p": "p.Lys539Thr",
"transcript": "NM_001039763.4",
"protein_id": "NP_001034852.3",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 657,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 1673,
"cdna_end": null,
"cdna_length": 3115,
"mane_select": "ENST00000455884.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM232",
"gene_hgnc_id": 37270,
"hgvs_c": "c.1616A>C",
"hgvs_p": "p.Lys539Thr",
"transcript": "ENST00000455884.7",
"protein_id": "ENSP00000401477.2",
"transcript_support_level": 2,
"aa_start": 539,
"aa_end": null,
"aa_length": 657,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 1673,
"cdna_end": null,
"cdna_length": 3115,
"mane_select": "NM_001039763.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TMEM232",
"gene_hgnc_id": 37270,
"hgvs_c": "n.*997+39772A>C",
"hgvs_p": null,
"transcript": "ENST00000512003.7",
"protein_id": "ENSP00000427785.2",
"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": 1974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TMEM232",
"gene_hgnc_id": 37270,
"hgvs_c": "n.1375+39772A>C",
"hgvs_p": null,
"transcript": "ENST00000515518.6",
"protein_id": null,
"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": 2231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM232",
"gene_hgnc_id": 37270,
"hgvs_c": "c.1616A>C",
"hgvs_p": "p.Lys539Thr",
"transcript": "XM_006714670.4",
"protein_id": "XP_006714733.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 657,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 2146,
"cdna_end": null,
"cdna_length": 3588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM232",
"gene_hgnc_id": 37270,
"hgvs_c": "c.1616A>C",
"hgvs_p": "p.Lys539Thr",
"transcript": "XM_011543552.3",
"protein_id": "XP_011541854.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 657,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 2497,
"cdna_end": null,
"cdna_length": 3939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM232",
"gene_hgnc_id": 37270,
"hgvs_c": "c.1616A>C",
"hgvs_p": "p.Lys539Thr",
"transcript": "XM_011543553.3",
"protein_id": "XP_011541855.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 657,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 2558,
"cdna_end": null,
"cdna_length": 4000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM232",
"gene_hgnc_id": 37270,
"hgvs_c": "c.1559A>C",
"hgvs_p": "p.Lys520Thr",
"transcript": "XM_011543555.3",
"protein_id": "XP_011541857.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 638,
"cds_start": 1559,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 2360,
"cdna_end": null,
"cdna_length": 3802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM232",
"gene_hgnc_id": 37270,
"hgvs_c": "c.1559A>C",
"hgvs_p": "p.Lys520Thr",
"transcript": "XM_011543556.3",
"protein_id": "XP_011541858.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 638,
"cds_start": 1559,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 2922,
"cdna_end": null,
"cdna_length": 4364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM232",
"gene_hgnc_id": 37270,
"hgvs_c": "c.1616A>C",
"hgvs_p": "p.Lys539Thr",
"transcript": "XM_011543557.3",
"protein_id": "XP_011541859.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 584,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 2497,
"cdna_end": null,
"cdna_length": 2852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM232",
"gene_hgnc_id": 37270,
"hgvs_c": "c.1616A>C",
"hgvs_p": "p.Lys539Thr",
"transcript": "XM_017009705.3",
"protein_id": "XP_016865194.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 584,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 2497,
"cdna_end": null,
"cdna_length": 5903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM232",
"gene_hgnc_id": 37270,
"hgvs_c": "c.1616A>C",
"hgvs_p": "p.Lys539Thr",
"transcript": "XM_047417491.1",
"protein_id": "XP_047273447.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 582,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 2497,
"cdna_end": null,
"cdna_length": 2722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM232",
"gene_hgnc_id": 37270,
"hgvs_c": "c.1616A>C",
"hgvs_p": "p.Lys539Thr",
"transcript": "XM_011543559.3",
"protein_id": "XP_011541861.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 578,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 2497,
"cdna_end": null,
"cdna_length": 43458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM232",
"gene_hgnc_id": 37270,
"hgvs_c": "c.1262A>C",
"hgvs_p": "p.Lys421Thr",
"transcript": "XM_011543560.3",
"protein_id": "XP_011541862.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 539,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1620,
"cdna_start": 1451,
"cdna_end": null,
"cdna_length": 2893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM232",
"gene_hgnc_id": 37270,
"hgvs_c": "c.1262A>C",
"hgvs_p": "p.Lys421Thr",
"transcript": "XM_047417493.1",
"protein_id": "XP_047273449.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 539,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1620,
"cdna_start": 2009,
"cdna_end": null,
"cdna_length": 3451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM232",
"gene_hgnc_id": 37270,
"hgvs_c": "c.1118A>C",
"hgvs_p": "p.Lys373Thr",
"transcript": "XM_047417495.1",
"protein_id": "XP_047273451.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 491,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1295,
"cdna_end": null,
"cdna_length": 2737,
"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": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM232",
"gene_hgnc_id": 37270,
"hgvs_c": "n.2497A>C",
"hgvs_p": null,
"transcript": "XR_001742181.2",
"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": 2997,
"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": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM232",
"gene_hgnc_id": 37270,
"hgvs_c": "n.2497A>C",
"hgvs_p": null,
"transcript": "XR_007058620.1",
"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": 3396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TMEM232",
"gene_hgnc_id": 37270,
"hgvs_c": "n.1018+39772A>C",
"hgvs_p": null,
"transcript": "ENST00000508571.6",
"protein_id": null,
"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": 4217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TMEM232",
"gene_hgnc_id": 37270,
"hgvs_c": "c.1455+39772A>C",
"hgvs_p": null,
"transcript": "XM_047417492.1",
"protein_id": "XP_047273448.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 553,
"cds_start": -4,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TMEM232",
"gene_hgnc_id": 37270,
"hgvs_c": "c.1456-25013A>C",
"hgvs_p": null,
"transcript": "XM_011543561.3",
"protein_id": "XP_011541863.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 532,
"cds_start": -4,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TMEM232",
"gene_hgnc_id": 37270,
"hgvs_c": "c.1456-25013A>C",
"hgvs_p": null,
"transcript": "XM_047417494.1",
"protein_id": "XP_047273450.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 532,
"cds_start": -4,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TMEM232",
"gene_hgnc_id": 37270,
"hgvs_c": "c.1456-20964A>C",
"hgvs_p": null,
"transcript": "XM_017009706.3",
"protein_id": "XP_016865195.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 529,
"cds_start": -4,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TMEM232",
"gene_hgnc_id": 37270,
"hgvs_c": "c.1456-20964A>C",
"hgvs_p": null,
"transcript": "XM_011543563.3",
"protein_id": "XP_011541865.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 522,
"cds_start": -4,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TMEM232",
"gene_hgnc_id": 37270,
"hgvs_c": "c.1455+39772A>C",
"hgvs_p": null,
"transcript": "XM_011543565.4",
"protein_id": "XP_011541867.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 494,
"cds_start": -4,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TMEM232",
"gene_hgnc_id": 37270,
"hgvs_c": "n.2336+39772A>C",
"hgvs_p": null,
"transcript": "XR_001742182.2",
"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": 3184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TMEM232",
"gene_hgnc_id": 37270,
"dbsnp": "rs934914111",
"frequency_reference_population": 0.000013027195,
"hom_count_reference_population": 0,
"allele_count_reference_population": 20,
"gnomad_exomes_af": 0.0000101224,
"gnomad_genomes_af": 0.0000394291,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12526381015777588,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.083,
"revel_prediction": "Benign",
"alphamissense_score": 0.1477,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.685,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001039763.4",
"gene_symbol": "TMEM232",
"hgnc_id": 37270,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1616A>C",
"hgvs_p": "p.Lys539Thr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}