← 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: 19-49908636-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=49908636&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 49908636,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000352066.8",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.1172A>C",
"hgvs_p": "p.Gln391Pro",
"transcript": "NM_016553.5",
"protein_id": "NP_057637.2",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 522,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1550,
"cdna_end": null,
"cdna_length": 3361,
"mane_select": "ENST00000352066.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.1172A>C",
"hgvs_p": "p.Gln391Pro",
"transcript": "ENST00000352066.8",
"protein_id": "ENSP00000305503.3",
"transcript_support_level": 1,
"aa_start": 391,
"aa_end": null,
"aa_length": 522,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1550,
"cdna_end": null,
"cdna_length": 3361,
"mane_select": "NM_016553.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.1172A>C",
"hgvs_p": "p.Gln391Pro",
"transcript": "ENST00000422090.2",
"protein_id": "ENSP00000407331.1",
"transcript_support_level": 1,
"aa_start": 391,
"aa_end": null,
"aa_length": 522,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1668,
"cdna_end": null,
"cdna_length": 3479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.1172A>C",
"hgvs_p": "p.Gln391Pro",
"transcript": "ENST00000597029.6",
"protein_id": "ENSP00000473192.1",
"transcript_support_level": 1,
"aa_start": 391,
"aa_end": null,
"aa_length": 522,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1575,
"cdna_end": null,
"cdna_length": 2573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.944A>C",
"hgvs_p": "p.Gln315Pro",
"transcript": "ENST00000597723.5",
"protein_id": "ENSP00000469283.1",
"transcript_support_level": 1,
"aa_start": 315,
"aa_end": null,
"aa_length": 446,
"cds_start": 944,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1293,
"cdna_end": null,
"cdna_length": 1824,
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL4I1",
"gene_hgnc_id": 19094,
"hgvs_c": "c.-227-4315A>C",
"hgvs_p": null,
"transcript": "ENST00000341114.7",
"protein_id": "ENSP00000342557.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 589,
"cds_start": -4,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2349,
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL4I1",
"gene_hgnc_id": 19094,
"hgvs_c": "c.-285-4315A>C",
"hgvs_p": null,
"transcript": "ENST00000595948.5",
"protein_id": "ENSP00000472474.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 589,
"cds_start": -4,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2407,
"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": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL4I1",
"gene_hgnc_id": 19094,
"hgvs_c": "n.-227-4315A>C",
"hgvs_p": null,
"transcript": "ENST00000601717.5",
"protein_id": "ENSP00000469467.1",
"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": 2261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.1172A>C",
"hgvs_p": "p.Gln391Pro",
"transcript": "NM_001193357.2",
"protein_id": "NP_001180286.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 522,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1337,
"cdna_end": null,
"cdna_length": 3148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.1172A>C",
"hgvs_p": "p.Gln391Pro",
"transcript": "NM_012346.5",
"protein_id": "NP_036478.2",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 522,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1404,
"cdna_end": null,
"cdna_length": 3215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.1172A>C",
"hgvs_p": "p.Gln391Pro",
"transcript": "NM_153718.4",
"protein_id": "NP_714940.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 522,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1428,
"cdna_end": null,
"cdna_length": 3239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.1172A>C",
"hgvs_p": "p.Gln391Pro",
"transcript": "NM_153719.4",
"protein_id": "NP_714941.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 522,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1583,
"cdna_end": null,
"cdna_length": 3394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.1172A>C",
"hgvs_p": "p.Gln391Pro",
"transcript": "ENST00000596217.1",
"protein_id": "ENSP00000471191.1",
"transcript_support_level": 2,
"aa_start": 391,
"aa_end": null,
"aa_length": 522,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 3060,
"cdna_end": null,
"cdna_length": 3590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.1172A>C",
"hgvs_p": "p.Gln391Pro",
"transcript": "ENST00000596437.6",
"protein_id": "ENSP00000468842.2",
"transcript_support_level": 4,
"aa_start": 391,
"aa_end": null,
"aa_length": 522,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1839,
"cdna_end": null,
"cdna_length": 3522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.1172A>C",
"hgvs_p": "p.Gln391Pro",
"transcript": "ENST00000598301.2",
"protein_id": "ENSP00000515009.1",
"transcript_support_level": 4,
"aa_start": 391,
"aa_end": null,
"aa_length": 522,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 2102,
"cdna_end": null,
"cdna_length": 3032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.1172A>C",
"hgvs_p": "p.Gln391Pro",
"transcript": "ENST00000599560.6",
"protein_id": "ENSP00000515013.1",
"transcript_support_level": 2,
"aa_start": 391,
"aa_end": null,
"aa_length": 522,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1786,
"cdna_end": null,
"cdna_length": 2713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.1172A>C",
"hgvs_p": "p.Gln391Pro",
"transcript": "ENST00000599788.2",
"protein_id": "ENSP00000468884.2",
"transcript_support_level": 4,
"aa_start": 391,
"aa_end": null,
"aa_length": 522,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1694,
"cdna_end": null,
"cdna_length": 2624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.1172A>C",
"hgvs_p": "p.Gln391Pro",
"transcript": "ENST00000600583.6",
"protein_id": "ENSP00000515011.1",
"transcript_support_level": 4,
"aa_start": 391,
"aa_end": null,
"aa_length": 522,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1845,
"cdna_end": null,
"cdna_length": 2775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.1172A>C",
"hgvs_p": "p.Gln391Pro",
"transcript": "ENST00000600935.2",
"protein_id": "ENSP00000468839.2",
"transcript_support_level": 4,
"aa_start": 391,
"aa_end": null,
"aa_length": 522,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1717,
"cdna_end": null,
"cdna_length": 3487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.1172A>C",
"hgvs_p": "p.Gln391Pro",
"transcript": "ENST00000700473.1",
"protein_id": "ENSP00000515006.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 522,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1418,
"cdna_end": null,
"cdna_length": 3203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.1172A>C",
"hgvs_p": "p.Gln391Pro",
"transcript": "ENST00000700474.1",
"protein_id": "ENSP00000515007.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 522,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1364,
"cdna_end": null,
"cdna_length": 3067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.1172A>C",
"hgvs_p": "p.Gln391Pro",
"transcript": "ENST00000700475.1",
"protein_id": "ENSP00000515008.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 522,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1570,
"cdna_end": null,
"cdna_length": 2500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.1172A>C",
"hgvs_p": "p.Gln391Pro",
"transcript": "ENST00000700476.1",
"protein_id": "ENSP00000515010.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 522,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1816,
"cdna_end": null,
"cdna_length": 2746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.1172A>C",
"hgvs_p": "p.Gln391Pro",
"transcript": "ENST00000700477.1",
"protein_id": "ENSP00000515012.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 522,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1628,
"cdna_end": null,
"cdna_length": 2558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.1172A>C",
"hgvs_p": "p.Gln391Pro",
"transcript": "ENST00000700478.1",
"protein_id": "ENSP00000515014.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 522,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1430,
"cdna_end": null,
"cdna_length": 2353,
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL4I1",
"gene_hgnc_id": 19094,
"hgvs_c": "c.-227-4315A>C",
"hgvs_p": null,
"transcript": "NM_001258017.2",
"protein_id": "NP_001244946.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 589,
"cds_start": -4,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2290,
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL4I1",
"gene_hgnc_id": 19094,
"hgvs_c": "c.-285-4315A>C",
"hgvs_p": null,
"transcript": "NM_001258018.2",
"protein_id": "NP_001244947.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 589,
"cds_start": -4,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2372,
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL4I1",
"gene_hgnc_id": 19094,
"hgvs_c": "c.-227-4315A>C",
"hgvs_p": null,
"transcript": "NM_172374.3",
"protein_id": "NP_758962.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 589,
"cds_start": -4,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2314,
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL4I1",
"gene_hgnc_id": 19094,
"hgvs_c": "c.-227-4315A>C",
"hgvs_p": null,
"transcript": "ENST00000596022.5",
"protein_id": "ENSP00000471950.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 105,
"cds_start": -4,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 747,
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL4I1",
"gene_hgnc_id": 19094,
"hgvs_c": "c.-145-4315A>C",
"hgvs_p": null,
"transcript": "ENST00000597295.5",
"protein_id": "ENSP00000469841.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 70,
"cds_start": -4,
"cds_end": null,
"cds_length": 213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 651,
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL4I1",
"gene_hgnc_id": 19094,
"hgvs_c": "c.-328-4315A>C",
"hgvs_p": null,
"transcript": "ENST00000596011.1",
"protein_id": "ENSP00000472786.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 31,
"cds_start": -4,
"cds_end": null,
"cds_length": 97,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 714,
"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": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL4I1",
"gene_hgnc_id": 19094,
"hgvs_c": "n.302-4315A>C",
"hgvs_p": null,
"transcript": "NR_047577.2",
"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": 2349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"dbsnp": "rs121917865",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9729294776916504,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.91,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9921,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.37,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.908,
"phylop100way_prediction": "Pathogenic",
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000352066.8",
"gene_symbol": "NUP62",
"hgnc_id": 8066,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD,Unknown",
"hgvs_c": "c.1172A>C",
"hgvs_p": "p.Gln391Pro"
},
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_172374.3",
"gene_symbol": "IL4I1",
"hgnc_id": 19094,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-227-4315A>C",
"hgvs_p": null
}
],
"clinvar_disease": "Infantile bilateral striatal necrosis",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Infantile bilateral striatal necrosis",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}