← 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: 5-126559250-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=126559250&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM1",
"PP2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ALDH7A1",
"hgnc_id": 877,
"hgvs_c": "c.998C>T",
"hgvs_p": "p.Ala333Val",
"inheritance_mode": "AR,AD",
"pathogenic_score": 3,
"score": 1,
"transcript": "NM_001182.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PP2,BP4_Moderate",
"acmg_score": 1,
"allele_count_reference_population": 25,
"alphamissense_prediction": null,
"alphamissense_score": 0.2504,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.27,
"chr": "5",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Pyridoxine-dependent epilepsy,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.1887010633945465,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 539,
"aa_ref": "A",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4765,
"cdna_start": 1019,
"cds_end": null,
"cds_length": 1620,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001182.5",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.998C>T",
"hgvs_p": "p.Ala333Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000409134.8",
"protein_coding": true,
"protein_id": "NP_001173.2",
"strand": false,
"transcript": "NM_001182.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 539,
"aa_ref": "A",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4765,
"cdna_start": 1019,
"cds_end": null,
"cds_length": 1620,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000409134.8",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.998C>T",
"hgvs_p": "p.Ala333Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001182.5",
"protein_coding": true,
"protein_id": "ENSP00000387123.3",
"strand": false,
"transcript": "ENST00000409134.8",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 554,
"aa_ref": "A",
"aa_start": 348,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2501,
"cdna_start": 1064,
"cds_end": null,
"cds_length": 1665,
"cds_start": 1043,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000636879.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.1043C>T",
"hgvs_p": "p.Ala348Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490811.1",
"strand": false,
"transcript": "ENST00000636879.1",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 553,
"aa_ref": "A",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3447,
"cdna_start": 1090,
"cds_end": null,
"cds_length": 1662,
"cds_start": 1040,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000939100.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.1040C>T",
"hgvs_p": "p.Ala347Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609159.1",
"strand": false,
"transcript": "ENST00000939100.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 549,
"aa_ref": "A",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1871,
"cdna_start": 1012,
"cds_end": null,
"cds_length": 1650,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000865294.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.998C>T",
"hgvs_p": "p.Ala333Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535353.1",
"strand": false,
"transcript": "ENST00000865294.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 546,
"aa_ref": "A",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1849,
"cdna_start": 1019,
"cds_end": null,
"cds_length": 1641,
"cds_start": 1019,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000865298.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.1019C>T",
"hgvs_p": "p.Ala340Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535357.1",
"strand": false,
"transcript": "ENST00000865298.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 544,
"aa_ref": "A",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2135,
"cdna_start": 996,
"cds_end": null,
"cds_length": 1635,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000635851.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.995C>T",
"hgvs_p": "p.Ala332Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490819.1",
"strand": false,
"transcript": "ENST00000635851.1",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 538,
"aa_ref": "A",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2506,
"cdna_start": 1047,
"cds_end": null,
"cds_length": 1617,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000939101.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.998C>T",
"hgvs_p": "p.Ala333Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609160.1",
"strand": false,
"transcript": "ENST00000939101.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 536,
"aa_ref": "A",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2554,
"cdna_start": 1010,
"cds_end": null,
"cds_length": 1611,
"cds_start": 989,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000637272.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.989C>T",
"hgvs_p": "p.Ala330Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489686.1",
"strand": false,
"transcript": "ENST00000637272.1",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 536,
"aa_ref": "A",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1839,
"cdna_start": 1019,
"cds_end": null,
"cds_length": 1611,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000865293.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.998C>T",
"hgvs_p": "p.Ala333Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535352.1",
"strand": false,
"transcript": "ENST00000865293.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 526,
"aa_ref": "A",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2663,
"cdna_start": 1041,
"cds_end": null,
"cds_length": 1581,
"cds_start": 959,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000865287.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.959C>T",
"hgvs_p": "p.Ala320Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535346.1",
"strand": false,
"transcript": "ENST00000865287.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 525,
"aa_ref": "A",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1794,
"cdna_start": 977,
"cds_end": null,
"cds_length": 1578,
"cds_start": 956,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000865296.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.956C>T",
"hgvs_p": "p.Ala319Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535355.1",
"strand": false,
"transcript": "ENST00000865296.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 521,
"aa_ref": "A",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1773,
"cdna_start": 1019,
"cds_end": null,
"cds_length": 1566,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000637782.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.998C>T",
"hgvs_p": "p.Ala333Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490024.1",
"strand": false,
"transcript": "ENST00000637782.1",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 513,
"aa_ref": "A",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1758,
"cdna_start": 929,
"cds_end": null,
"cds_length": 1542,
"cds_start": 920,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000865295.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.920C>T",
"hgvs_p": "p.Ala307Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535354.1",
"strand": false,
"transcript": "ENST00000865295.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 511,
"aa_ref": "A",
"aa_start": 305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4765,
"cdna_start": 1019,
"cds_end": null,
"cds_length": 1536,
"cds_start": 914,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001201377.2",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.914C>T",
"hgvs_p": "p.Ala305Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001188306.1",
"strand": false,
"transcript": "NM_001201377.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 505,
"aa_ref": "A",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1748,
"cdna_start": 917,
"cds_end": null,
"cds_length": 1518,
"cds_start": 896,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000865291.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.896C>T",
"hgvs_p": "p.Ala299Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535350.1",
"strand": false,
"transcript": "ENST00000865291.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 500,
"aa_ref": "A",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2524,
"cdna_start": 1019,
"cds_end": null,
"cds_length": 1503,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000865288.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.998C>T",
"hgvs_p": "p.Ala333Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535347.1",
"strand": false,
"transcript": "ENST00000865288.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 499,
"aa_ref": "A",
"aa_start": 293,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2332,
"cdna_start": 899,
"cds_end": null,
"cds_length": 1500,
"cds_start": 878,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000636743.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.878C>T",
"hgvs_p": "p.Ala293Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489725.1",
"strand": false,
"transcript": "ENST00000636743.1",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 498,
"aa_ref": "A",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1726,
"cdna_start": 896,
"cds_end": null,
"cds_length": 1497,
"cds_start": 875,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000865292.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.875C>T",
"hgvs_p": "p.Ala292Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535351.1",
"strand": false,
"transcript": "ENST00000865292.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 489,
"aa_ref": "A",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1564,
"cdna_start": 1006,
"cds_end": null,
"cds_length": 1470,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000960036.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.998C>T",
"hgvs_p": "p.Ala333Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630095.1",
"strand": false,
"transcript": "ENST00000960036.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 475,
"aa_ref": "A",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4573,
"cdna_start": 1019,
"cds_end": null,
"cds_length": 1428,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001202404.2",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.998C>T",
"hgvs_p": "p.Ala333Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001189333.2",
"strand": false,
"transcript": "NM_001202404.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 475,
"aa_ref": "A",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1935,
"cdna_start": 1136,
"cds_end": null,
"cds_length": 1428,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000553117.5",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.998C>T",
"hgvs_p": "p.Ala333Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000448593.1",
"strand": false,
"transcript": "ENST00000553117.5",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 472,
"aa_ref": "A",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2321,
"cdna_start": 824,
"cds_end": null,
"cds_length": 1419,
"cds_start": 797,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000636886.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.797C>T",
"hgvs_p": "p.Ala266Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490371.1",
"strand": false,
"transcript": "ENST00000636886.1",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 436,
"aa_ref": "A",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1515,
"cdna_start": 698,
"cds_end": null,
"cds_length": 1311,
"cds_start": 689,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000939104.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Ala230Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609163.1",
"strand": false,
"transcript": "ENST00000939104.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 421,
"aa_ref": "A",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1476,
"cdna_start": 647,
"cds_end": null,
"cds_length": 1266,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000865297.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ala215Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535356.1",
"strand": false,
"transcript": "ENST00000865297.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 347,
"aa_ref": "A",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1065,
"cdna_start": 964,
"cds_end": null,
"cds_length": 1045,
"cds_start": 944,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000637964.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.944C>T",
"hgvs_p": "p.Ala315Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490291.1",
"strand": false,
"transcript": "ENST00000637964.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 479,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2466,
"cdna_start": null,
"cds_end": null,
"cds_length": 1440,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000637206.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.913+1833C>T",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489895.1",
"strand": false,
"transcript": "ENST00000637206.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 465,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2245,
"cdna_start": null,
"cds_end": null,
"cds_length": 1398,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865289.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.872-4857C>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535348.1",
"strand": false,
"transcript": "ENST00000865289.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 307,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1156,
"cdna_start": null,
"cds_end": null,
"cds_length": 924,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939102.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.313-3235C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609161.1",
"strand": false,
"transcript": "ENST00000939102.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 281,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1060,
"cdna_start": null,
"cds_end": null,
"cds_length": 846,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939103.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.234+1833C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609162.1",
"strand": false,
"transcript": "ENST00000939103.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 213,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 841,
"cdna_start": null,
"cds_end": null,
"cds_length": 642,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939105.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.340-8957C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609164.1",
"strand": false,
"transcript": "ENST00000939105.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 203,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 845,
"cdna_start": null,
"cds_end": null,
"cds_length": 612,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865290.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.193-7113C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535349.1",
"strand": false,
"transcript": "ENST00000865290.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2037,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000458249.6",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "n.*907C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000403929.1",
"strand": false,
"transcript": "ENST00000458249.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2255,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000497231.7",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "n.1425C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000497231.7",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 937,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000503281.6",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "n.*463C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000488032.1",
"strand": false,
"transcript": "ENST00000503281.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 538,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000509459.6",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "n.*424C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000487998.1",
"strand": false,
"transcript": "ENST00000509459.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1809,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000636062.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "n.893C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000636062.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1738,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000636225.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "n.*942C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490797.1",
"strand": false,
"transcript": "ENST00000636225.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1431,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000636286.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "n.716C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000636286.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1337,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000636482.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "n.485C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000636482.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2639,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000636808.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "n.*807C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490833.1",
"strand": false,
"transcript": "ENST00000636808.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2747,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000636872.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "n.*864C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490919.1",
"strand": false,
"transcript": "ENST00000636872.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1222,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000637292.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "n.*78C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490655.1",
"strand": false,
"transcript": "ENST00000637292.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1865,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000638008.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "n.*842C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490400.1",
"strand": false,
"transcript": "ENST00000638008.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2037,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000458249.6",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "n.*907C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000403929.1",
"strand": false,
"transcript": "ENST00000458249.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 937,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000503281.6",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "n.*463C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000488032.1",
"strand": false,
"transcript": "ENST00000503281.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 538,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000509459.6",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "n.*424C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000487998.1",
"strand": false,
"transcript": "ENST00000509459.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1738,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000636225.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "n.*942C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490797.1",
"strand": false,
"transcript": "ENST00000636225.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2639,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000636808.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "n.*807C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490833.1",
"strand": false,
"transcript": "ENST00000636808.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2747,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000636872.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "n.*864C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490919.1",
"strand": false,
"transcript": "ENST00000636872.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1222,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000637292.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "n.*78C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490655.1",
"strand": false,
"transcript": "ENST00000637292.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1865,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000638008.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "n.*842C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490400.1",
"strand": false,
"transcript": "ENST00000638008.1",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs144625212",
"effect": "missense_variant",
"frequency_reference_population": 0.00001549394,
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"gnomad_exomes_ac": 16,
"gnomad_exomes_af": 0.0000109486,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 9,
"gnomad_genomes_af": 0.0000591475,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified|Pyridoxine-dependent epilepsy|not provided",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.285,
"pos": 126559250,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.245,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_001182.5"
}
]
}