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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: 13-99244567-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=99244567&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 99244567,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001144072.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAC2",
"gene_hgnc_id": 20486,
"hgvs_c": "c.332T>C",
"hgvs_p": "p.Ile111Thr",
"transcript": "NM_001144072.2",
"protein_id": "NP_001137544.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 344,
"cds_start": 332,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000403766.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144072.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAC2",
"gene_hgnc_id": 20486,
"hgvs_c": "c.332T>C",
"hgvs_p": "p.Ile111Thr",
"transcript": "ENST00000403766.8",
"protein_id": "ENSP00000383911.3",
"transcript_support_level": 2,
"aa_start": 111,
"aa_end": null,
"aa_length": 344,
"cds_start": 332,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001144072.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403766.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAC2",
"gene_hgnc_id": 20486,
"hgvs_c": "c.-8T>C",
"hgvs_p": null,
"transcript": "XM_047430286.1",
"protein_id": "XP_047286242.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 231,
"cds_start": null,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430286.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAC2",
"gene_hgnc_id": 20486,
"hgvs_c": "c.332T>C",
"hgvs_p": "p.Ile111Thr",
"transcript": "ENST00000961156.1",
"protein_id": "ENSP00000631215.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 414,
"cds_start": 332,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961156.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAC2",
"gene_hgnc_id": 20486,
"hgvs_c": "c.332T>C",
"hgvs_p": "p.Ile111Thr",
"transcript": "ENST00000858721.1",
"protein_id": "ENSP00000528780.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 360,
"cds_start": 332,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858721.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAC2",
"gene_hgnc_id": 20486,
"hgvs_c": "c.332T>C",
"hgvs_p": "p.Ile111Thr",
"transcript": "ENST00000961157.1",
"protein_id": "ENSP00000631216.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 346,
"cds_start": 332,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961157.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAC2",
"gene_hgnc_id": 20486,
"hgvs_c": "c.332T>C",
"hgvs_p": "p.Ile111Thr",
"transcript": "ENST00000858724.1",
"protein_id": "ENSP00000528783.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 328,
"cds_start": 332,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858724.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAC2",
"gene_hgnc_id": 20486,
"hgvs_c": "c.332T>C",
"hgvs_p": "p.Ile111Thr",
"transcript": "ENST00000858726.1",
"protein_id": "ENSP00000528785.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 306,
"cds_start": 332,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858726.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAC2",
"gene_hgnc_id": 20486,
"hgvs_c": "c.332T>C",
"hgvs_p": "p.Ile111Thr",
"transcript": "ENST00000858723.1",
"protein_id": "ENSP00000528782.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 304,
"cds_start": 332,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858723.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAC2",
"gene_hgnc_id": 20486,
"hgvs_c": "c.332T>C",
"hgvs_p": "p.Ile111Thr",
"transcript": "ENST00000858725.1",
"protein_id": "ENSP00000528784.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 262,
"cds_start": 332,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858725.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAC2",
"gene_hgnc_id": 20486,
"hgvs_c": "c.332T>C",
"hgvs_p": "p.Ile111Thr",
"transcript": "ENST00000961155.1",
"protein_id": "ENSP00000631214.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 246,
"cds_start": 332,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961155.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAC2",
"gene_hgnc_id": 20486,
"hgvs_c": "c.332T>C",
"hgvs_p": "p.Ile111Thr",
"transcript": "ENST00000927465.1",
"protein_id": "ENSP00000597524.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 222,
"cds_start": 332,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927465.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAC2",
"gene_hgnc_id": 20486,
"hgvs_c": "c.350T>C",
"hgvs_p": "p.Ile117Thr",
"transcript": "ENST00000457666.1",
"protein_id": "ENSP00000402249.1",
"transcript_support_level": 3,
"aa_start": 117,
"aa_end": null,
"aa_length": 134,
"cds_start": 350,
"cds_end": null,
"cds_length": 407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457666.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAC2",
"gene_hgnc_id": 20486,
"hgvs_c": "c.-8T>C",
"hgvs_p": null,
"transcript": "XM_047430286.1",
"protein_id": "XP_047286242.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 231,
"cds_start": null,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430286.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "UBAC2",
"gene_hgnc_id": 20486,
"hgvs_c": "c.284+6013T>C",
"hgvs_p": null,
"transcript": "NM_177967.4",
"protein_id": "NP_808882.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 309,
"cds_start": null,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_177967.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "UBAC2",
"gene_hgnc_id": 20486,
"hgvs_c": "c.284+6013T>C",
"hgvs_p": null,
"transcript": "ENST00000376440.6",
"protein_id": "ENSP00000365623.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 309,
"cds_start": null,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376440.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "UBAC2",
"gene_hgnc_id": 20486,
"hgvs_c": "c.159+6013T>C",
"hgvs_p": null,
"transcript": "ENST00000858722.1",
"protein_id": "ENSP00000528781.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 287,
"cds_start": null,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858722.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "UBAC2",
"gene_hgnc_id": 20486,
"hgvs_c": "c.159+6013T>C",
"hgvs_p": null,
"transcript": "ENST00000858727.1",
"protein_id": "ENSP00000528786.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 226,
"cds_start": null,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858727.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "UBAC2",
"gene_hgnc_id": 20486,
"hgvs_c": "c.159+6013T>C",
"hgvs_p": null,
"transcript": "ENST00000961154.1",
"protein_id": "ENSP00000631213.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961154.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "UBAC2",
"gene_hgnc_id": 20486,
"hgvs_c": "c.159+6013T>C",
"hgvs_p": null,
"transcript": "ENST00000355700.9",
"protein_id": "ENSP00000347928.5",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 203,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355700.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "UBAC2",
"gene_hgnc_id": 20486,
"hgvs_c": "c.159+6013T>C",
"hgvs_p": null,
"transcript": "ENST00000961158.1",
"protein_id": "ENSP00000631217.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 186,
"cds_start": null,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961158.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "UBAC2",
"gene_hgnc_id": 20486,
"hgvs_c": "c.233+6013T>C",
"hgvs_p": null,
"transcript": "XM_011521083.3",
"protein_id": "XP_011519385.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 292,
"cds_start": null,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521083.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "UBAC2",
"gene_hgnc_id": 20486,
"hgvs_c": "c.32+6013T>C",
"hgvs_p": null,
"transcript": "XM_011521082.3",
"protein_id": "XP_011519384.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 225,
"cds_start": null,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521082.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAC2",
"gene_hgnc_id": 20486,
"hgvs_c": "n.493T>C",
"hgvs_p": null,
"transcript": "ENST00000468067.5",
"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": "pseudogene",
"feature": "ENST00000468067.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAC2",
"gene_hgnc_id": 20486,
"hgvs_c": "n.429T>C",
"hgvs_p": null,
"transcript": "ENST00000473091.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "pseudogene",
"feature": "ENST00000473091.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAC2",
"gene_hgnc_id": 20486,
"hgvs_c": "n.53T>C",
"hgvs_p": null,
"transcript": "ENST00000494576.5",
"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": "pseudogene",
"feature": "ENST00000494576.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAC2",
"gene_hgnc_id": 20486,
"hgvs_c": "n.1015T>C",
"hgvs_p": null,
"transcript": "NR_026644.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_026644.2"
}
],
"gene_symbol": "UBAC2",
"gene_hgnc_id": 20486,
"dbsnp": "rs201712233",
"frequency_reference_population": 0.00067065505,
"hom_count_reference_population": 1,
"allele_count_reference_population": 1082,
"gnomad_exomes_af": 0.000695343,
"gnomad_genomes_af": 0.000433646,
"gnomad_exomes_ac": 1016,
"gnomad_genomes_ac": 66,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.025560766458511353,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.169,
"revel_prediction": "Benign",
"alphamissense_score": 0.0765,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.122,
"phylop100way_prediction": "Uncertain_significance",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001144072.2",
"gene_symbol": "UBAC2",
"hgnc_id": 20486,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.332T>C",
"hgvs_p": "p.Ile111Thr"
}
],
"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
}