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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: 1-18876432-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=18876432&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 18876432,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_003748.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH4A1",
"gene_hgnc_id": 406,
"hgvs_c": "c.1221A>G",
"hgvs_p": "p.Ala407Ala",
"transcript": "NM_003748.4",
"protein_id": "NP_003739.2",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 563,
"cds_start": 1221,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 1253,
"cdna_end": null,
"cdna_length": 3139,
"mane_select": "ENST00000375341.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003748.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH4A1",
"gene_hgnc_id": 406,
"hgvs_c": "c.1221A>G",
"hgvs_p": "p.Ala407Ala",
"transcript": "ENST00000375341.8",
"protein_id": "ENSP00000364490.3",
"transcript_support_level": 1,
"aa_start": 407,
"aa_end": null,
"aa_length": 563,
"cds_start": 1221,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 1253,
"cdna_end": null,
"cdna_length": 3139,
"mane_select": "NM_003748.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375341.8"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH4A1",
"gene_hgnc_id": 406,
"hgvs_c": "c.1221A>G",
"hgvs_p": "p.Ala407Ala",
"transcript": "ENST00000290597.9",
"protein_id": "ENSP00000290597.5",
"transcript_support_level": 1,
"aa_start": 407,
"aa_end": null,
"aa_length": 563,
"cds_start": 1221,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 1251,
"cdna_end": null,
"cdna_length": 2124,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000290597.9"
},
{
"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": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ALDH4A1",
"gene_hgnc_id": 406,
"hgvs_c": "c.1185+776A>G",
"hgvs_p": null,
"transcript": "ENST00000538839.5",
"protein_id": "ENSP00000446071.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 512,
"cds_start": null,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2957,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538839.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH4A1",
"gene_hgnc_id": 406,
"hgvs_c": "c.1296A>G",
"hgvs_p": "p.Ala432Ala",
"transcript": "ENST00000870355.1",
"protein_id": "ENSP00000540414.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 588,
"cds_start": 1296,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 1328,
"cdna_end": null,
"cdna_length": 3217,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870355.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH4A1",
"gene_hgnc_id": 406,
"hgvs_c": "c.1287A>G",
"hgvs_p": "p.Ala429Ala",
"transcript": "ENST00000924555.1",
"protein_id": "ENSP00000594614.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 585,
"cds_start": 1287,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 1330,
"cdna_end": null,
"cdna_length": 3216,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924555.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH4A1",
"gene_hgnc_id": 406,
"hgvs_c": "c.1221A>G",
"hgvs_p": "p.Ala407Ala",
"transcript": "ENST00000870350.1",
"protein_id": "ENSP00000540409.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 578,
"cds_start": 1221,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1497,
"cdna_end": null,
"cdna_length": 3432,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870350.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH4A1",
"gene_hgnc_id": 406,
"hgvs_c": "c.1221A>G",
"hgvs_p": "p.Ala407Ala",
"transcript": "ENST00000870357.1",
"protein_id": "ENSP00000540416.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 577,
"cds_start": 1221,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1253,
"cdna_end": null,
"cdna_length": 3179,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870357.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH4A1",
"gene_hgnc_id": 406,
"hgvs_c": "c.1257A>G",
"hgvs_p": "p.Ala419Ala",
"transcript": "ENST00000870359.1",
"protein_id": "ENSP00000540418.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 575,
"cds_start": 1257,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1284,
"cdna_end": null,
"cdna_length": 3166,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870359.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH4A1",
"gene_hgnc_id": 406,
"hgvs_c": "c.1245A>G",
"hgvs_p": "p.Ala415Ala",
"transcript": "ENST00000870354.1",
"protein_id": "ENSP00000540413.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 571,
"cds_start": 1245,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1315,
"cdna_end": null,
"cdna_length": 3201,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870354.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH4A1",
"gene_hgnc_id": 406,
"hgvs_c": "c.1221A>G",
"hgvs_p": "p.Ala407Ala",
"transcript": "ENST00000870356.1",
"protein_id": "ENSP00000540415.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 566,
"cds_start": 1221,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1253,
"cdna_end": null,
"cdna_length": 3148,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870356.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH4A1",
"gene_hgnc_id": 406,
"hgvs_c": "c.1221A>G",
"hgvs_p": "p.Ala407Ala",
"transcript": "NM_170726.3",
"protein_id": "NP_733844.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 563,
"cds_start": 1221,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 1253,
"cdna_end": null,
"cdna_length": 2126,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_170726.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH4A1",
"gene_hgnc_id": 406,
"hgvs_c": "c.1221A>G",
"hgvs_p": "p.Ala407Ala",
"transcript": "ENST00000870351.1",
"protein_id": "ENSP00000540410.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 562,
"cds_start": 1221,
"cds_end": null,
"cds_length": 1689,
"cdna_start": 1491,
"cdna_end": null,
"cdna_length": 3374,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870351.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH4A1",
"gene_hgnc_id": 406,
"hgvs_c": "c.1173A>G",
"hgvs_p": "p.Ala391Ala",
"transcript": "ENST00000971517.1",
"protein_id": "ENSP00000641576.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 562,
"cds_start": 1173,
"cds_end": null,
"cds_length": 1689,
"cdna_start": 1197,
"cdna_end": null,
"cdna_length": 3126,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971517.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH4A1",
"gene_hgnc_id": 406,
"hgvs_c": "c.1212A>G",
"hgvs_p": "p.Ala404Ala",
"transcript": "ENST00000870358.1",
"protein_id": "ENSP00000540417.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 560,
"cds_start": 1212,
"cds_end": null,
"cds_length": 1683,
"cdna_start": 1244,
"cdna_end": null,
"cdna_length": 3127,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870358.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH4A1",
"gene_hgnc_id": 406,
"hgvs_c": "c.1212A>G",
"hgvs_p": "p.Ala404Ala",
"transcript": "ENST00000870360.1",
"protein_id": "ENSP00000540419.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 560,
"cds_start": 1212,
"cds_end": null,
"cds_length": 1683,
"cdna_start": 1236,
"cdna_end": null,
"cdna_length": 3120,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870360.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH4A1",
"gene_hgnc_id": 406,
"hgvs_c": "c.1200A>G",
"hgvs_p": "p.Ala400Ala",
"transcript": "ENST00000870361.1",
"protein_id": "ENSP00000540420.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 556,
"cds_start": 1200,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1232,
"cdna_end": null,
"cdna_length": 3039,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870361.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH4A1",
"gene_hgnc_id": 406,
"hgvs_c": "c.1173A>G",
"hgvs_p": "p.Ala391Ala",
"transcript": "ENST00000870352.1",
"protein_id": "ENSP00000540411.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 547,
"cds_start": 1173,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 1421,
"cdna_end": null,
"cdna_length": 3312,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870352.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH4A1",
"gene_hgnc_id": 406,
"hgvs_c": "c.1050A>G",
"hgvs_p": "p.Ala350Ala",
"transcript": "ENST00000870353.1",
"protein_id": "ENSP00000540412.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 506,
"cds_start": 1050,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 1294,
"cdna_end": null,
"cdna_length": 3184,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870353.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH4A1",
"gene_hgnc_id": 406,
"hgvs_c": "c.1041A>G",
"hgvs_p": "p.Ala347Ala",
"transcript": "NM_001161504.2",
"protein_id": "NP_001154976.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 503,
"cds_start": 1041,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 3243,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161504.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH4A1",
"gene_hgnc_id": 406,
"hgvs_c": "c.1041A>G",
"hgvs_p": "p.Ala347Ala",
"transcript": "ENST00000538309.5",
"protein_id": "ENSP00000442988.1",
"transcript_support_level": 2,
"aa_start": 347,
"aa_end": null,
"aa_length": 503,
"cds_start": 1041,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 1940,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538309.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH4A1",
"gene_hgnc_id": 406,
"hgvs_c": "c.1026A>G",
"hgvs_p": "p.Ala342Ala",
"transcript": "ENST00000924552.1",
"protein_id": "ENSP00000594611.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 498,
"cds_start": 1026,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 1270,
"cdna_end": null,
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{
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],
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"protein_id": "ENSP00000594615.1",
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{
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],
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"gene_symbol": "ALDH4A1",
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"protein_id": "ENSP00000594612.1",
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{
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],
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"gene_symbol": "ALDH4A1",
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"transcript": "NM_001319218.2",
"protein_id": "NP_001306147.1",
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"feature": "NM_001319218.2"
},
{
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"intron_variant"
],
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"gene_symbol": "ALDH4A1",
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"transcript": "ENST00000924554.1",
"protein_id": "ENSP00000594613.1",
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"biotype": "protein_coding",
"feature": "ENST00000924554.1"
}
],
"gene_symbol": "ALDH4A1",
"gene_hgnc_id": 406,
"dbsnp": "rs2230706",
"frequency_reference_population": 0.69446754,
"hom_count_reference_population": 389798,
"allele_count_reference_population": 1115451,
"gnomad_exomes_af": 0.699918,
"gnomad_genomes_af": 0.642165,
"gnomad_exomes_ac": 1018100,
"gnomad_genomes_ac": 97351,
"gnomad_exomes_homalt": 357845,
"gnomad_genomes_homalt": 31953,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5299999713897705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.128,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_003748.4",
"gene_symbol": "ALDH4A1",
"hgnc_id": 406,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1221A>G",
"hgvs_p": "p.Ala407Ala"
}
],
"clinvar_disease": "Hyperprolinemia type 2,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"phenotype_combined": "Hyperprolinemia type 2|not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}