← 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: 19-1418703-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=1418703&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 1418703,
"ref": "C",
"alt": "T",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "NM_001352035.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"transcript": "NM_018959.4",
"protein_id": "NP_061832.2",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 407,
"cds_start": 275,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000233078.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018959.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"transcript": "ENST00000233078.9",
"protein_id": "ENSP00000233078.4",
"transcript_support_level": 1,
"aa_start": 92,
"aa_end": null,
"aa_length": 407,
"cds_start": 275,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018959.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000233078.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.-162C>T",
"hgvs_p": null,
"transcript": "NM_001352035.2",
"protein_id": "NP_001338964.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 234,
"cds_start": null,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352035.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"transcript": "ENST00000875652.1",
"protein_id": "ENSP00000545711.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 470,
"cds_start": 275,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875652.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"transcript": "ENST00000918388.1",
"protein_id": "ENSP00000588447.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 469,
"cds_start": 275,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918388.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"transcript": "ENST00000918387.1",
"protein_id": "ENSP00000588446.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 451,
"cds_start": 275,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918387.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"transcript": "ENST00000875651.1",
"protein_id": "ENSP00000545710.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 450,
"cds_start": 275,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875651.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"transcript": "ENST00000918391.1",
"protein_id": "ENSP00000588450.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 450,
"cds_start": 275,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918391.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"transcript": "ENST00000918396.1",
"protein_id": "ENSP00000588455.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 447,
"cds_start": 275,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918396.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"transcript": "ENST00000875646.1",
"protein_id": "ENSP00000545705.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 419,
"cds_start": 275,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875646.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"transcript": "ENST00000875649.1",
"protein_id": "ENSP00000545708.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 418,
"cds_start": 275,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875649.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"transcript": "ENST00000959431.1",
"protein_id": "ENSP00000629490.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 417,
"cds_start": 275,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959431.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"transcript": "ENST00000875645.1",
"protein_id": "ENSP00000545704.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 416,
"cds_start": 275,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875645.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.278C>T",
"hgvs_p": "p.Pro93Leu",
"transcript": "ENST00000918392.1",
"protein_id": "ENSP00000588451.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 407,
"cds_start": 278,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918392.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"transcript": "NM_001352033.2",
"protein_id": "NP_001338962.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 406,
"cds_start": 275,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352033.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"transcript": "NM_001352034.2",
"protein_id": "NP_001338963.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 406,
"cds_start": 275,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352034.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"transcript": "ENST00000587079.5",
"protein_id": "ENSP00000465433.2",
"transcript_support_level": 5,
"aa_start": 92,
"aa_end": null,
"aa_length": 406,
"cds_start": 275,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587079.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"transcript": "ENST00000592522.5",
"protein_id": "ENSP00000467680.2",
"transcript_support_level": 5,
"aa_start": 92,
"aa_end": null,
"aa_length": 406,
"cds_start": 275,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592522.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"transcript": "ENST00000875641.1",
"protein_id": "ENSP00000545700.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 405,
"cds_start": 275,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875641.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"transcript": "ENST00000875643.1",
"protein_id": "ENSP00000545702.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 404,
"cds_start": 275,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875643.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"transcript": "ENST00000875642.1",
"protein_id": "ENSP00000545701.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 403,
"cds_start": 275,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875642.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"transcript": "ENST00000875644.1",
"protein_id": "ENSP00000545703.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 403,
"cds_start": 275,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875644.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"transcript": "ENST00000875640.1",
"protein_id": "ENSP00000545699.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 402,
"cds_start": 275,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875640.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"transcript": "ENST00000875647.1",
"protein_id": "ENSP00000545706.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 397,
"cds_start": 275,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875647.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"transcript": "ENST00000875648.1",
"protein_id": "ENSP00000545707.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 396,
"cds_start": 275,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875648.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"transcript": "ENST00000918389.1",
"protein_id": "ENSP00000588448.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 395,
"cds_start": 275,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918389.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.167C>T",
"hgvs_p": "p.Pro56Leu",
"transcript": "ENST00000875650.1",
"protein_id": "ENSP00000545709.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 382,
"cds_start": 167,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875650.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"transcript": "NM_170711.3",
"protein_id": "NP_733829.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 378,
"cds_start": 275,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_170711.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"transcript": "ENST00000336761.10",
"protein_id": "ENSP00000337132.5",
"transcript_support_level": 5,
"aa_start": 92,
"aa_end": null,
"aa_length": 378,
"cds_start": 275,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336761.10"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"transcript": "ENST00000918393.1",
"protein_id": "ENSP00000588452.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 375,
"cds_start": 275,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918393.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"transcript": "ENST00000918395.1",
"protein_id": "ENSP00000588454.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 362,
"cds_start": 275,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918395.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"transcript": "ENST00000918390.1",
"protein_id": "ENSP00000588449.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 326,
"cds_start": 275,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918390.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"transcript": "ENST00000918394.1",
"protein_id": "ENSP00000588453.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 325,
"cds_start": 275,
"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": "ENST00000918394.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.704C>T",
"hgvs_p": "p.Pro235Leu",
"transcript": "XM_011527904.3",
"protein_id": "XP_011526206.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 550,
"cds_start": 704,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527904.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.704C>T",
"hgvs_p": "p.Pro235Leu",
"transcript": "XM_011527905.3",
"protein_id": "XP_011526207.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 549,
"cds_start": 704,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527905.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.704C>T",
"hgvs_p": "p.Pro235Leu",
"transcript": "XM_011527906.3",
"protein_id": "XP_011526208.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 549,
"cds_start": 704,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527906.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.704C>T",
"hgvs_p": "p.Pro235Leu",
"transcript": "XM_011527907.3",
"protein_id": "XP_011526209.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 548,
"cds_start": 704,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527907.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.704C>T",
"hgvs_p": "p.Pro235Leu",
"transcript": "XM_011527909.4",
"protein_id": "XP_011526211.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 521,
"cds_start": 704,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527909.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Pro117Leu",
"transcript": "XM_047438588.1",
"protein_id": "XP_047294544.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 432,
"cds_start": 350,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438588.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Pro117Leu",
"transcript": "XM_047438589.1",
"protein_id": "XP_047294545.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 431,
"cds_start": 350,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438589.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Pro117Leu",
"transcript": "XM_047438590.1",
"protein_id": "XP_047294546.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 431,
"cds_start": 350,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438590.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"transcript": "XM_047438591.1",
"protein_id": "XP_047294547.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 405,
"cds_start": 275,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438591.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"transcript": "XM_047438592.1",
"protein_id": "XP_047294548.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 378,
"cds_start": 275,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438592.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.704C>T",
"hgvs_p": "p.Pro235Leu",
"transcript": "XM_017026582.3",
"protein_id": "XP_016882071.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 327,
"cds_start": 704,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026582.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.-162C>T",
"hgvs_p": null,
"transcript": "NM_001352035.2",
"protein_id": "NP_001338964.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 234,
"cds_start": null,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352035.2"
},
{
"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": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.237+333C>T",
"hgvs_p": null,
"transcript": "ENST00000592453.2",
"protein_id": "ENSP00000467613.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 326,
"cds_start": null,
"cds_end": null,
"cds_length": 982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592453.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "n.372C>T",
"hgvs_p": null,
"transcript": "ENST00000586579.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000586579.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "n.447C>T",
"hgvs_p": null,
"transcript": "ENST00000587833.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000587833.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "n.1776C>T",
"hgvs_p": null,
"transcript": "ENST00000589484.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000589484.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "n.502C>T",
"hgvs_p": null,
"transcript": "ENST00000590419.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000590419.5"
}
],
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"dbsnp": "rs2067862763",
"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": 0.47634103894233704,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.301,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.205,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.668,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001352035.2",
"gene_symbol": "DAZAP1",
"hgnc_id": 2683,
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-162C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}