← 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: 9-34241310-C-CCCAGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=34241310&ref=C&alt=CCCAGA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 34241310,
"ref": "C",
"alt": "CCCAGA",
"effect": "frameshift_variant",
"transcript": "NM_001171201.1",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "DQ?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.286_290dupCCAGA",
"hgvs_p": "p.Glu97fs",
"transcript": "NM_016525.5",
"protein_id": "NP_057609.2",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 502,
"cds_start": 291,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000297661.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016525.5"
},
{
"aa_ref": "E",
"aa_alt": "DQ?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.286_290dupCCAGA",
"hgvs_p": "p.Glu97fs",
"transcript": "ENST00000297661.9",
"protein_id": "ENSP00000297661.4",
"transcript_support_level": 1,
"aa_start": 97,
"aa_end": null,
"aa_length": 502,
"cds_start": 291,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016525.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000297661.9"
},
{
"aa_ref": "E",
"aa_alt": "DQ?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.286_290dupCCAGA",
"hgvs_p": "p.Glu97fs",
"transcript": "ENST00000359544.2",
"protein_id": "ENSP00000352541.2",
"transcript_support_level": 1,
"aa_start": 97,
"aa_end": null,
"aa_length": 502,
"cds_start": 291,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359544.2"
},
{
"aa_ref": "E",
"aa_alt": "DQ?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.478_482dupCCAGA",
"hgvs_p": "p.Glu161fs",
"transcript": "NM_001171201.1",
"protein_id": "NP_001164672.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 566,
"cds_start": 483,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171201.1"
},
{
"aa_ref": "E",
"aa_alt": "DQ?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.478_482dupCCAGA",
"hgvs_p": "p.Glu161fs",
"transcript": "ENST00000625521.2",
"protein_id": "ENSP00000486574.1",
"transcript_support_level": 2,
"aa_start": 161,
"aa_end": null,
"aa_length": 566,
"cds_start": 483,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000625521.2"
},
{
"aa_ref": "E",
"aa_alt": "DQ?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.394_398dupCCAGA",
"hgvs_p": "p.Glu133fs",
"transcript": "NM_001171202.1",
"protein_id": "NP_001164673.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 538,
"cds_start": 399,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171202.1"
},
{
"aa_ref": "E",
"aa_alt": "DQ?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.364_368dupCCAGA",
"hgvs_p": "p.Glu123fs",
"transcript": "ENST00000626262.2",
"protein_id": "ENSP00000487222.1",
"transcript_support_level": 2,
"aa_start": 123,
"aa_end": null,
"aa_length": 528,
"cds_start": 369,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000626262.2"
},
{
"aa_ref": "E",
"aa_alt": "DQ?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.331_335dupCCAGA",
"hgvs_p": "p.Glu112fs",
"transcript": "ENST00000965874.1",
"protein_id": "ENSP00000635933.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 517,
"cds_start": 336,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965874.1"
},
{
"aa_ref": "E",
"aa_alt": "DQ?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.286_290dupCCAGA",
"hgvs_p": "p.Glu97fs",
"transcript": "NM_001171203.3",
"protein_id": "NP_001164674.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 502,
"cds_start": 291,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171203.3"
},
{
"aa_ref": "E",
"aa_alt": "DQ?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.286_290dupCCAGA",
"hgvs_p": "p.Glu97fs",
"transcript": "NM_001171204.3",
"protein_id": "NP_001164675.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 502,
"cds_start": 291,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171204.3"
},
{
"aa_ref": "E",
"aa_alt": "DQ?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.286_290dupCCAGA",
"hgvs_p": "p.Glu97fs",
"transcript": "ENST00000859530.1",
"protein_id": "ENSP00000529589.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 502,
"cds_start": 291,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859530.1"
},
{
"aa_ref": "E",
"aa_alt": "DQ?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.286_290dupCCAGA",
"hgvs_p": "p.Glu97fs",
"transcript": "ENST00000859531.1",
"protein_id": "ENSP00000529590.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 502,
"cds_start": 291,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859531.1"
},
{
"aa_ref": "E",
"aa_alt": "DQ?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.286_290dupCCAGA",
"hgvs_p": "p.Glu97fs",
"transcript": "ENST00000859532.1",
"protein_id": "ENSP00000529591.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 502,
"cds_start": 291,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859532.1"
},
{
"aa_ref": "E",
"aa_alt": "DQ?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.286_290dupCCAGA",
"hgvs_p": "p.Glu97fs",
"transcript": "ENST00000859534.1",
"protein_id": "ENSP00000529593.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 502,
"cds_start": 291,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859534.1"
},
{
"aa_ref": "E",
"aa_alt": "DQ?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.286_290dupCCAGA",
"hgvs_p": "p.Glu97fs",
"transcript": "ENST00000859535.1",
"protein_id": "ENSP00000529594.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 502,
"cds_start": 291,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859535.1"
},
{
"aa_ref": "E",
"aa_alt": "DQ?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.286_290dupCCAGA",
"hgvs_p": "p.Glu97fs",
"transcript": "ENST00000859536.1",
"protein_id": "ENSP00000529595.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 502,
"cds_start": 291,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859536.1"
},
{
"aa_ref": "E",
"aa_alt": "DQ?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.286_290dupCCAGA",
"hgvs_p": "p.Glu97fs",
"transcript": "ENST00000859537.1",
"protein_id": "ENSP00000529596.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 502,
"cds_start": 291,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859537.1"
},
{
"aa_ref": "E",
"aa_alt": "DQ?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.286_290dupCCAGA",
"hgvs_p": "p.Glu97fs",
"transcript": "ENST00000859538.1",
"protein_id": "ENSP00000529597.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 502,
"cds_start": 291,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859538.1"
},
{
"aa_ref": "E",
"aa_alt": "DQ?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.286_290dupCCAGA",
"hgvs_p": "p.Glu97fs",
"transcript": "ENST00000859540.1",
"protein_id": "ENSP00000529599.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 502,
"cds_start": 291,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859540.1"
},
{
"aa_ref": "E",
"aa_alt": "DQ?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.286_290dupCCAGA",
"hgvs_p": "p.Glu97fs",
"transcript": "ENST00000859542.1",
"protein_id": "ENSP00000529601.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 502,
"cds_start": 291,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859542.1"
},
{
"aa_ref": "E",
"aa_alt": "DQ?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.286_290dupCCAGA",
"hgvs_p": "p.Glu97fs",
"transcript": "ENST00000859543.1",
"protein_id": "ENSP00000529602.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 502,
"cds_start": 291,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859543.1"
},
{
"aa_ref": "E",
"aa_alt": "DQ?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.286_290dupCCAGA",
"hgvs_p": "p.Glu97fs",
"transcript": "ENST00000859544.1",
"protein_id": "ENSP00000529603.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 502,
"cds_start": 291,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859544.1"
},
{
"aa_ref": "E",
"aa_alt": "DQ?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.286_290dupCCAGA",
"hgvs_p": "p.Glu97fs",
"transcript": "ENST00000859545.1",
"protein_id": "ENSP00000529604.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 502,
"cds_start": 291,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859545.1"
},
{
"aa_ref": "E",
"aa_alt": "DQ?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.286_290dupCCAGA",
"hgvs_p": "p.Glu97fs",
"transcript": "ENST00000859546.1",
"protein_id": "ENSP00000529605.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 502,
"cds_start": 291,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859546.1"
},
{
"aa_ref": "E",
"aa_alt": "DQ?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.286_290dupCCAGA",
"hgvs_p": "p.Glu97fs",
"transcript": "ENST00000859547.1",
"protein_id": "ENSP00000529606.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 502,
"cds_start": 291,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859547.1"
},
{
"aa_ref": "E",
"aa_alt": "DQ?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.286_290dupCCAGA",
"hgvs_p": "p.Glu97fs",
"transcript": "ENST00000859548.1",
"protein_id": "ENSP00000529607.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 502,
"cds_start": 291,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859548.1"
},
{
"aa_ref": "E",
"aa_alt": "DQ?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.286_290dupCCAGA",
"hgvs_p": "p.Glu97fs",
"transcript": "ENST00000859549.1",
"protein_id": "ENSP00000529608.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 502,
"cds_start": 291,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859549.1"
},
{
"aa_ref": "E",
"aa_alt": "DQ?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.286_290dupCCAGA",
"hgvs_p": "p.Glu97fs",
"transcript": "ENST00000859550.1",
"protein_id": "ENSP00000529609.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 502,
"cds_start": 291,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859550.1"
},
{
"aa_ref": "E",
"aa_alt": "DQ?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.286_290dupCCAGA",
"hgvs_p": "p.Glu97fs",
"transcript": "ENST00000859551.1",
"protein_id": "ENSP00000529610.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 502,
"cds_start": 291,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859551.1"
},
{
"aa_ref": "E",
"aa_alt": "DQ?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.286_290dupCCAGA",
"hgvs_p": "p.Glu97fs",
"transcript": "ENST00000859552.1",
"protein_id": "ENSP00000529611.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 502,
"cds_start": 291,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859552.1"
},
{
"aa_ref": "E",
"aa_alt": "DQ?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.286_290dupCCAGA",
"hgvs_p": "p.Glu97fs",
"transcript": "ENST00000940196.1",
"protein_id": "ENSP00000610255.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 502,
"cds_start": 291,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940196.1"
},
{
"aa_ref": "E",
"aa_alt": "DQ?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.286_290dupCCAGA",
"hgvs_p": "p.Glu97fs",
"transcript": "ENST00000940197.1",
"protein_id": "ENSP00000610256.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 502,
"cds_start": 291,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940197.1"
},
{
"aa_ref": "E",
"aa_alt": "DQ?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.286_290dupCCAGA",
"hgvs_p": "p.Glu97fs",
"transcript": "ENST00000940198.1",
"protein_id": "ENSP00000610257.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 502,
"cds_start": 291,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940198.1"
},
{
"aa_ref": "E",
"aa_alt": "DQ?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.286_290dupCCAGA",
"hgvs_p": "p.Glu97fs",
"transcript": "ENST00000940199.1",
"protein_id": "ENSP00000610258.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 502,
"cds_start": 291,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940199.1"
},
{
"aa_ref": "E",
"aa_alt": "DQ?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.286_290dupCCAGA",
"hgvs_p": "p.Glu97fs",
"transcript": "ENST00000965871.1",
"protein_id": "ENSP00000635930.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 502,
"cds_start": 291,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965871.1"
},
{
"aa_ref": "E",
"aa_alt": "DQ?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.286_290dupCCAGA",
"hgvs_p": "p.Glu97fs",
"transcript": "ENST00000965872.1",
"protein_id": "ENSP00000635931.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 502,
"cds_start": 291,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965872.1"
},
{
"aa_ref": "E",
"aa_alt": "DQ?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.286_290dupCCAGA",
"hgvs_p": "p.Glu97fs",
"transcript": "ENST00000965873.1",
"protein_id": "ENSP00000635932.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 502,
"cds_start": 291,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965873.1"
},
{
"aa_ref": "E",
"aa_alt": "DQ?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.286_290dupCCAGA",
"hgvs_p": "p.Glu97fs",
"transcript": "ENST00000965876.1",
"protein_id": "ENSP00000635935.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 502,
"cds_start": 291,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965876.1"
},
{
"aa_ref": "E",
"aa_alt": "DQ?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.286_290dupCCAGA",
"hgvs_p": "p.Glu97fs",
"transcript": "ENST00000965877.1",
"protein_id": "ENSP00000635936.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 502,
"cds_start": 291,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965877.1"
},
{
"aa_ref": "E",
"aa_alt": "DQ?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.286_290dupCCAGA",
"hgvs_p": "p.Glu97fs",
"transcript": "ENST00000965878.1",
"protein_id": "ENSP00000635937.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 502,
"cds_start": 291,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965878.1"
},
{
"aa_ref": "E",
"aa_alt": "DQ?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.286_290dupCCAGA",
"hgvs_p": "p.Glu97fs",
"transcript": "ENST00000965879.1",
"protein_id": "ENSP00000635938.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 502,
"cds_start": 291,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965879.1"
},
{
"aa_ref": "E",
"aa_alt": "DQ?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.286_290dupCCAGA",
"hgvs_p": "p.Glu97fs",
"transcript": "ENST00000379186.8",
"protein_id": "ENSP00000368484.3",
"transcript_support_level": 5,
"aa_start": 97,
"aa_end": null,
"aa_length": 441,
"cds_start": 291,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379186.8"
},
{
"aa_ref": "E",
"aa_alt": "DQ?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.286_290dupCCAGA",
"hgvs_p": "p.Glu97fs",
"transcript": "ENST00000859539.1",
"protein_id": "ENSP00000529598.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 325,
"cds_start": 291,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859539.1"
},
{
"aa_ref": "E",
"aa_alt": "DQ?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.307_311dupCCAGA",
"hgvs_p": "p.Glu104fs",
"transcript": "XM_011517898.2",
"protein_id": "XP_011516200.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 509,
"cds_start": 312,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517898.2"
},
{
"aa_ref": "E",
"aa_alt": "DQ?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.286_290dupCCAGA",
"hgvs_p": "p.Glu97fs",
"transcript": "XM_006716779.5",
"protein_id": "XP_006716842.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 502,
"cds_start": 291,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716779.5"
},
{
"aa_ref": "E",
"aa_alt": "DQ?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.286_290dupCCAGA",
"hgvs_p": "p.Glu97fs",
"transcript": "XM_047423457.1",
"protein_id": "XP_047279413.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 502,
"cds_start": 291,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423457.1"
},
{
"aa_ref": "E",
"aa_alt": "DQ?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.286_290dupCCAGA",
"hgvs_p": "p.Glu97fs",
"transcript": "XM_047423458.1",
"protein_id": "XP_047279414.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 502,
"cds_start": 291,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423458.1"
},
{
"aa_ref": "E",
"aa_alt": "DQ?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.244_248dupCCAGA",
"hgvs_p": "p.Glu83fs",
"transcript": "XM_017014802.2",
"protein_id": "XP_016870291.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 488,
"cds_start": 249,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014802.2"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.159+6971_159+6975dupCCAGA",
"hgvs_p": null,
"transcript": "ENST00000859533.1",
"protein_id": "ENSP00000529592.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 194,
"cds_start": null,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859533.1"
},
{
"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": 4,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.159+6971_159+6975dupCCAGA",
"hgvs_p": null,
"transcript": "ENST00000859541.1",
"protein_id": "ENSP00000529600.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 194,
"cds_start": null,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859541.1"
},
{
"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": 4,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.159+6971_159+6975dupCCAGA",
"hgvs_p": null,
"transcript": "ENST00000965875.1",
"protein_id": "ENSP00000635934.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 194,
"cds_start": null,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965875.1"
},
{
"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": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "n.607_611dupCCAGA",
"hgvs_p": null,
"transcript": "NR_033243.3",
"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_033243.3"
}
],
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"dbsnp": "rs1563919973",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.29,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "NM_001171201.1",
"gene_symbol": "UBAP1",
"hgnc_id": 12461,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.478_482dupCCAGA",
"hgvs_p": "p.Glu161fs"
}
],
"clinvar_disease": " autosomal dominant,Spastic paraplegia 80",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Spastic paraplegia 80, autosomal dominant",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}