← 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: 9-34241294-TG-CT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=34241294&ref=TG&alt=CT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "UBAP1",
"hgnc_id": 12461,
"hgvs_c": "c.461_462delTGinsCT",
"hgvs_p": "p.Val154Ala",
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001171201.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 502,
"aa_ref": "V",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2705,
"cdna_start": 474,
"cds_end": null,
"cds_length": 1509,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_016525.5",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.269_270delTGinsCT",
"hgvs_p": "p.Val90Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000297661.9",
"protein_coding": true,
"protein_id": "NP_057609.2",
"strand": true,
"transcript": "NM_016525.5",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 502,
"aa_ref": "V",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2705,
"cdna_start": 474,
"cds_end": null,
"cds_length": 1509,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000297661.9",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.269_270delTGinsCT",
"hgvs_p": "p.Val90Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016525.5",
"protein_coding": true,
"protein_id": "ENSP00000297661.4",
"strand": true,
"transcript": "ENST00000297661.9",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 502,
"aa_ref": "V",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2535,
"cdna_start": 305,
"cds_end": null,
"cds_length": 1509,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000359544.2",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.269_270delTGinsCT",
"hgvs_p": "p.Val90Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000352541.2",
"strand": true,
"transcript": "ENST00000359544.2",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 566,
"aa_ref": "V",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2702,
"cdna_start": 471,
"cds_end": null,
"cds_length": 1701,
"cds_start": 461,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001171201.1",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.461_462delTGinsCT",
"hgvs_p": "p.Val154Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001164672.1",
"strand": true,
"transcript": "NM_001171201.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 566,
"aa_ref": "V",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2029,
"cdna_start": 471,
"cds_end": null,
"cds_length": 1701,
"cds_start": 461,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000625521.2",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.461_462delTGinsCT",
"hgvs_p": "p.Val154Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486574.1",
"strand": true,
"transcript": "ENST00000625521.2",
"transcript_support_level": 2
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 538,
"aa_ref": "V",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2618,
"cdna_start": 387,
"cds_end": null,
"cds_length": 1617,
"cds_start": 377,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001171202.1",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.377_378delTGinsCT",
"hgvs_p": "p.Val126Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001164673.1",
"strand": true,
"transcript": "NM_001171202.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 528,
"aa_ref": "V",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1753,
"cdna_start": 347,
"cds_end": null,
"cds_length": 1587,
"cds_start": 347,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000626262.2",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.347_348delTGinsCT",
"hgvs_p": "p.Val116Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000487222.1",
"strand": true,
"transcript": "ENST00000626262.2",
"transcript_support_level": 2
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 517,
"aa_ref": "V",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2856,
"cdna_start": 625,
"cds_end": null,
"cds_length": 1554,
"cds_start": 314,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965874.1",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.314_315delTGinsCT",
"hgvs_p": "p.Val105Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635933.1",
"strand": true,
"transcript": "ENST00000965874.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 502,
"aa_ref": "V",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2860,
"cdna_start": 629,
"cds_end": null,
"cds_length": 1509,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001171203.3",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.269_270delTGinsCT",
"hgvs_p": "p.Val90Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001164674.1",
"strand": true,
"transcript": "NM_001171203.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 502,
"aa_ref": "V",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2828,
"cdna_start": 597,
"cds_end": null,
"cds_length": 1509,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001171204.3",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.269_270delTGinsCT",
"hgvs_p": "p.Val90Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001164675.1",
"strand": true,
"transcript": "NM_001171204.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 502,
"aa_ref": "V",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2833,
"cdna_start": 602,
"cds_end": null,
"cds_length": 1509,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859530.1",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.269_270delTGinsCT",
"hgvs_p": "p.Val90Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529589.1",
"strand": true,
"transcript": "ENST00000859530.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 502,
"aa_ref": "V",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2844,
"cdna_start": 613,
"cds_end": null,
"cds_length": 1509,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859531.1",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.269_270delTGinsCT",
"hgvs_p": "p.Val90Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529590.1",
"strand": true,
"transcript": "ENST00000859531.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 502,
"aa_ref": "V",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2847,
"cdna_start": 618,
"cds_end": null,
"cds_length": 1509,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859532.1",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.269_270delTGinsCT",
"hgvs_p": "p.Val90Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529591.1",
"strand": true,
"transcript": "ENST00000859532.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 502,
"aa_ref": "V",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2873,
"cdna_start": 643,
"cds_end": null,
"cds_length": 1509,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859534.1",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.269_270delTGinsCT",
"hgvs_p": "p.Val90Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529593.1",
"strand": true,
"transcript": "ENST00000859534.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 502,
"aa_ref": "V",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2799,
"cdna_start": 576,
"cds_end": null,
"cds_length": 1509,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859535.1",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.269_270delTGinsCT",
"hgvs_p": "p.Val90Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529594.1",
"strand": true,
"transcript": "ENST00000859535.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 502,
"aa_ref": "V",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2805,
"cdna_start": 574,
"cds_end": null,
"cds_length": 1509,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859536.1",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.269_270delTGinsCT",
"hgvs_p": "p.Val90Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529595.1",
"strand": true,
"transcript": "ENST00000859536.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 502,
"aa_ref": "V",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2830,
"cdna_start": 600,
"cds_end": null,
"cds_length": 1509,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859537.1",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.269_270delTGinsCT",
"hgvs_p": "p.Val90Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529596.1",
"strand": true,
"transcript": "ENST00000859537.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 502,
"aa_ref": "V",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2783,
"cdna_start": 553,
"cds_end": null,
"cds_length": 1509,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859538.1",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.269_270delTGinsCT",
"hgvs_p": "p.Val90Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529597.1",
"strand": true,
"transcript": "ENST00000859538.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 502,
"aa_ref": "V",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2729,
"cdna_start": 565,
"cds_end": null,
"cds_length": 1509,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859540.1",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.269_270delTGinsCT",
"hgvs_p": "p.Val90Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529599.1",
"strand": true,
"transcript": "ENST00000859540.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 502,
"aa_ref": "V",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2684,
"cdna_start": 453,
"cds_end": null,
"cds_length": 1509,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859542.1",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.269_270delTGinsCT",
"hgvs_p": "p.Val90Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529601.1",
"strand": true,
"transcript": "ENST00000859542.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 502,
"aa_ref": "V",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2923,
"cdna_start": 692,
"cds_end": null,
"cds_length": 1509,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859543.1",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.269_270delTGinsCT",
"hgvs_p": "p.Val90Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529602.1",
"strand": true,
"transcript": "ENST00000859543.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 502,
"aa_ref": "V",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2630,
"cdna_start": 400,
"cds_end": null,
"cds_length": 1509,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859544.1",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.269_270delTGinsCT",
"hgvs_p": "p.Val90Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529603.1",
"strand": true,
"transcript": "ENST00000859544.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 502,
"aa_ref": "V",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2554,
"cdna_start": 325,
"cds_end": null,
"cds_length": 1509,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859545.1",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.269_270delTGinsCT",
"hgvs_p": "p.Val90Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529604.1",
"strand": true,
"transcript": "ENST00000859545.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 502,
"aa_ref": "V",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2580,
"cdna_start": 351,
"cds_end": null,
"cds_length": 1509,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859546.1",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.269_270delTGinsCT",
"hgvs_p": "p.Val90Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529605.1",
"strand": true,
"transcript": "ENST00000859546.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 502,
"aa_ref": "V",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2690,
"cdna_start": 461,
"cds_end": null,
"cds_length": 1509,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859547.1",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.269_270delTGinsCT",
"hgvs_p": "p.Val90Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529606.1",
"strand": true,
"transcript": "ENST00000859547.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 502,
"aa_ref": "V",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2786,
"cdna_start": 556,
"cds_end": null,
"cds_length": 1509,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859548.1",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.269_270delTGinsCT",
"hgvs_p": "p.Val90Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529607.1",
"strand": true,
"transcript": "ENST00000859548.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 502,
"aa_ref": "V",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2767,
"cdna_start": 536,
"cds_end": null,
"cds_length": 1509,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859549.1",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.269_270delTGinsCT",
"hgvs_p": "p.Val90Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529608.1",
"strand": true,
"transcript": "ENST00000859549.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 502,
"aa_ref": "V",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2781,
"cdna_start": 645,
"cds_end": null,
"cds_length": 1509,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859550.1",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.269_270delTGinsCT",
"hgvs_p": "p.Val90Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529609.1",
"strand": true,
"transcript": "ENST00000859550.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 502,
"aa_ref": "V",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2500,
"cdna_start": 355,
"cds_end": null,
"cds_length": 1509,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859551.1",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.269_270delTGinsCT",
"hgvs_p": "p.Val90Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529610.1",
"strand": true,
"transcript": "ENST00000859551.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 502,
"aa_ref": "V",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2654,
"cdna_start": 423,
"cds_end": null,
"cds_length": 1509,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859552.1",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.269_270delTGinsCT",
"hgvs_p": "p.Val90Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529611.1",
"strand": true,
"transcript": "ENST00000859552.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 502,
"aa_ref": "V",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2822,
"cdna_start": 591,
"cds_end": null,
"cds_length": 1509,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940196.1",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.269_270delTGinsCT",
"hgvs_p": "p.Val90Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610255.1",
"strand": true,
"transcript": "ENST00000940196.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 502,
"aa_ref": "V",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2785,
"cdna_start": 555,
"cds_end": null,
"cds_length": 1509,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940197.1",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.269_270delTGinsCT",
"hgvs_p": "p.Val90Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610256.1",
"strand": true,
"transcript": "ENST00000940197.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 502,
"aa_ref": "V",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2784,
"cdna_start": 555,
"cds_end": null,
"cds_length": 1509,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940198.1",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.269_270delTGinsCT",
"hgvs_p": "p.Val90Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610257.1",
"strand": true,
"transcript": "ENST00000940198.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 502,
"aa_ref": "V",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2806,
"cdna_start": 577,
"cds_end": null,
"cds_length": 1509,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940199.1",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.269_270delTGinsCT",
"hgvs_p": "p.Val90Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610258.1",
"strand": true,
"transcript": "ENST00000940199.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 502,
"aa_ref": "V",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2974,
"cdna_start": 744,
"cds_end": null,
"cds_length": 1509,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965871.1",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.269_270delTGinsCT",
"hgvs_p": "p.Val90Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635930.1",
"strand": true,
"transcript": "ENST00000965871.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 502,
"aa_ref": "V",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2922,
"cdna_start": 691,
"cds_end": null,
"cds_length": 1509,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965872.1",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.269_270delTGinsCT",
"hgvs_p": "p.Val90Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635931.1",
"strand": true,
"transcript": "ENST00000965872.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 502,
"aa_ref": "V",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2787,
"cdna_start": 557,
"cds_end": null,
"cds_length": 1509,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965873.1",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.269_270delTGinsCT",
"hgvs_p": "p.Val90Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635932.1",
"strand": true,
"transcript": "ENST00000965873.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 502,
"aa_ref": "V",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2538,
"cdna_start": 308,
"cds_end": null,
"cds_length": 1509,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965876.1",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.269_270delTGinsCT",
"hgvs_p": "p.Val90Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635935.1",
"strand": true,
"transcript": "ENST00000965876.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 502,
"aa_ref": "V",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3931,
"cdna_start": 1704,
"cds_end": null,
"cds_length": 1509,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965877.1",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.269_270delTGinsCT",
"hgvs_p": "p.Val90Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635936.1",
"strand": true,
"transcript": "ENST00000965877.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 502,
"aa_ref": "V",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2678,
"cdna_start": 770,
"cds_end": null,
"cds_length": 1509,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965878.1",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.269_270delTGinsCT",
"hgvs_p": "p.Val90Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635937.1",
"strand": true,
"transcript": "ENST00000965878.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 502,
"aa_ref": "V",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2888,
"cdna_start": 844,
"cds_end": null,
"cds_length": 1509,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965879.1",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.269_270delTGinsCT",
"hgvs_p": "p.Val90Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635938.1",
"strand": true,
"transcript": "ENST00000965879.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 441,
"aa_ref": "V",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2524,
"cdna_start": 479,
"cds_end": null,
"cds_length": 1326,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000379186.8",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.269_270delTGinsCT",
"hgvs_p": "p.Val90Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000368484.3",
"strand": true,
"transcript": "ENST00000379186.8",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 325,
"aa_ref": "V",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2172,
"cdna_start": 474,
"cds_end": null,
"cds_length": 978,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859539.1",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.269_270delTGinsCT",
"hgvs_p": "p.Val90Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529598.1",
"strand": true,
"transcript": "ENST00000859539.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 509,
"aa_ref": "V",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2536,
"cdna_start": 305,
"cds_end": null,
"cds_length": 1530,
"cds_start": 290,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011517898.2",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.290_291delTGinsCT",
"hgvs_p": "p.Val97Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011516200.1",
"strand": true,
"transcript": "XM_011517898.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 502,
"aa_ref": "V",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2531,
"cdna_start": 300,
"cds_end": null,
"cds_length": 1509,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006716779.5",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.269_270delTGinsCT",
"hgvs_p": "p.Val90Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006716842.1",
"strand": true,
"transcript": "XM_006716779.5",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 502,
"aa_ref": "V",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2625,
"cdna_start": 394,
"cds_end": null,
"cds_length": 1509,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047423457.1",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.269_270delTGinsCT",
"hgvs_p": "p.Val90Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279413.1",
"strand": true,
"transcript": "XM_047423457.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 502,
"aa_ref": "V",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2527,
"cdna_start": 296,
"cds_end": null,
"cds_length": 1509,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047423458.1",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.269_270delTGinsCT",
"hgvs_p": "p.Val90Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279414.1",
"strand": true,
"transcript": "XM_047423458.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 488,
"aa_ref": "V",
"aa_start": 76,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2500,
"cdna_start": 269,
"cds_end": null,
"cds_length": 1467,
"cds_start": 227,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017014802.2",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.227_228delTGinsCT",
"hgvs_p": "p.Val76Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016870291.1",
"strand": true,
"transcript": "XM_017014802.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 194,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1795,
"cdna_start": null,
"cds_end": null,
"cds_length": 585,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859533.1",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.159+6954_159+6955delTGinsCT",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529592.1",
"strand": true,
"transcript": "ENST00000859533.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 194,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1782,
"cdna_start": null,
"cds_end": null,
"cds_length": 585,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859541.1",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.159+6954_159+6955delTGinsCT",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529600.1",
"strand": true,
"transcript": "ENST00000859541.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 194,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1891,
"cdna_start": null,
"cds_end": null,
"cds_length": 585,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965875.1",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "c.159+6954_159+6955delTGinsCT",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635934.1",
"strand": true,
"transcript": "ENST00000965875.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2821,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NR_033243.3",
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"hgvs_c": "n.590_591delTGinsCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_033243.3",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 12461,
"gene_symbol": "UBAP1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.692,
"pos": 34241294,
"ref": "TG",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001171201.1"
}
]
}