← 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: 12-56629500-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=56629500&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 56629500,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_013449.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-3+625G>T",
"hgvs_p": null,
"transcript": "NM_001300905.2",
"protein_id": "NP_001287834.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1903,
"cds_start": null,
"cds_end": null,
"cds_length": 5712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000549884.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300905.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-3+625G>T",
"hgvs_p": null,
"transcript": "ENST00000549884.6",
"protein_id": "ENSP00000447941.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1903,
"cds_start": null,
"cds_end": null,
"cds_length": 5712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001300905.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549884.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.4+6682G>T",
"hgvs_p": null,
"transcript": "ENST00000551812.5",
"protein_id": "ENSP00000446880.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1905,
"cds_start": null,
"cds_end": null,
"cds_length": 5718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551812.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.4+6682G>T",
"hgvs_p": null,
"transcript": "ENST00000379441.7",
"protein_id": "ENSP00000368754.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1875,
"cds_start": null,
"cds_end": null,
"cds_length": 5628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379441.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-3+625G>T",
"hgvs_p": null,
"transcript": "ENST00000898932.1",
"protein_id": "ENSP00000568991.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1921,
"cds_start": null,
"cds_end": null,
"cds_length": 5766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898932.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-3+625G>T",
"hgvs_p": null,
"transcript": "ENST00000898929.1",
"protein_id": "ENSP00000568988.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1910,
"cds_start": null,
"cds_end": null,
"cds_length": 5733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898929.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.4+6682G>T",
"hgvs_p": null,
"transcript": "NM_013449.4",
"protein_id": "NP_038477.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1905,
"cds_start": null,
"cds_end": null,
"cds_length": 5718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013449.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-3+1276G>T",
"hgvs_p": null,
"transcript": "ENST00000898923.1",
"protein_id": "ENSP00000568982.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1903,
"cds_start": null,
"cds_end": null,
"cds_length": 5712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898923.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-35+1276G>T",
"hgvs_p": null,
"transcript": "ENST00000898924.1",
"protein_id": "ENSP00000568983.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1903,
"cds_start": null,
"cds_end": null,
"cds_length": 5712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898924.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-167+1276G>T",
"hgvs_p": null,
"transcript": "ENST00000898925.1",
"protein_id": "ENSP00000568984.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1903,
"cds_start": null,
"cds_end": null,
"cds_length": 5712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898925.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-3+1276G>T",
"hgvs_p": null,
"transcript": "ENST00000898927.1",
"protein_id": "ENSP00000568986.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1903,
"cds_start": null,
"cds_end": null,
"cds_length": 5712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898927.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-3+5445G>T",
"hgvs_p": null,
"transcript": "ENST00000898928.1",
"protein_id": "ENSP00000568987.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1903,
"cds_start": null,
"cds_end": null,
"cds_length": 5712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898928.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-101+625G>T",
"hgvs_p": null,
"transcript": "ENST00000936222.1",
"protein_id": "ENSP00000606281.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1903,
"cds_start": null,
"cds_end": null,
"cds_length": 5712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936222.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-3+1276G>T",
"hgvs_p": null,
"transcript": "ENST00000936223.1",
"protein_id": "ENSP00000606282.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1903,
"cds_start": null,
"cds_end": null,
"cds_length": 5712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936223.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-187+625G>T",
"hgvs_p": null,
"transcript": "ENST00000936225.1",
"protein_id": "ENSP00000606284.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1903,
"cds_start": null,
"cds_end": null,
"cds_length": 5712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936225.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-3+6682G>T",
"hgvs_p": null,
"transcript": "ENST00000898922.1",
"protein_id": "ENSP00000568981.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1902,
"cds_start": null,
"cds_end": null,
"cds_length": 5709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898922.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-3+6682G>T",
"hgvs_p": null,
"transcript": "ENST00000898926.1",
"protein_id": "ENSP00000568985.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1902,
"cds_start": null,
"cds_end": null,
"cds_length": 5709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898926.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-3+625G>T",
"hgvs_p": null,
"transcript": "ENST00000898931.1",
"protein_id": "ENSP00000568990.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1902,
"cds_start": null,
"cds_end": null,
"cds_length": 5709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898931.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-3+1276G>T",
"hgvs_p": null,
"transcript": "ENST00000936219.1",
"protein_id": "ENSP00000606278.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1902,
"cds_start": null,
"cds_end": null,
"cds_length": 5709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936219.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-3+5445G>T",
"hgvs_p": null,
"transcript": "ENST00000936220.1",
"protein_id": "ENSP00000606279.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1902,
"cds_start": null,
"cds_end": null,
"cds_length": 5709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936220.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-3+1276G>T",
"hgvs_p": null,
"transcript": "ENST00000936221.1",
"protein_id": "ENSP00000606280.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1902,
"cds_start": null,
"cds_end": null,
"cds_length": 5709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936221.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-3+1276G>T",
"hgvs_p": null,
"transcript": "NM_001351156.2",
"protein_id": "NP_001338085.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1873,
"cds_start": null,
"cds_end": null,
"cds_length": 5622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351156.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-3+625G>T",
"hgvs_p": null,
"transcript": "ENST00000936224.1",
"protein_id": "ENSP00000606283.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1854,
"cds_start": null,
"cds_end": null,
"cds_length": 5565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936224.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-3+625G>T",
"hgvs_p": null,
"transcript": "ENST00000898930.1",
"protein_id": "ENSP00000568989.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1829,
"cds_start": null,
"cds_end": null,
"cds_length": 5490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898930.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-3+473G>T",
"hgvs_p": null,
"transcript": "ENST00000546695.5",
"protein_id": "ENSP00000449496.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 130,
"cds_start": null,
"cds_end": null,
"cds_length": 395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546695.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-3+1276G>T",
"hgvs_p": null,
"transcript": "ENST00000549506.5",
"protein_id": "ENSP00000447248.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 115,
"cds_start": null,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549506.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.154+6682G>T",
"hgvs_p": null,
"transcript": "XM_047428139.1",
"protein_id": "XP_047284095.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1962,
"cds_start": null,
"cds_end": null,
"cds_length": 5889,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428139.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.154+6682G>T",
"hgvs_p": null,
"transcript": "XM_047428141.1",
"protein_id": "XP_047284097.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1961,
"cds_start": null,
"cds_end": null,
"cds_length": 5886,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428141.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.154+6682G>T",
"hgvs_p": null,
"transcript": "XM_047428142.1",
"protein_id": "XP_047284098.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1955,
"cds_start": null,
"cds_end": null,
"cds_length": 5868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428142.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.154+6682G>T",
"hgvs_p": null,
"transcript": "XM_047428144.1",
"protein_id": "XP_047284100.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1954,
"cds_start": null,
"cds_end": null,
"cds_length": 5865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428144.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.154+6682G>T",
"hgvs_p": null,
"transcript": "XM_047428145.1",
"protein_id": "XP_047284101.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1932,
"cds_start": null,
"cds_end": null,
"cds_length": 5799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428145.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-104+625G>T",
"hgvs_p": null,
"transcript": "XM_047428146.1",
"protein_id": "XP_047284102.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1931,
"cds_start": null,
"cds_end": null,
"cds_length": 5796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428146.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-104+1276G>T",
"hgvs_p": null,
"transcript": "XM_047428147.1",
"protein_id": "XP_047284103.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1931,
"cds_start": null,
"cds_end": null,
"cds_length": 5796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428147.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-104+1276G>T",
"hgvs_p": null,
"transcript": "XM_047428148.1",
"protein_id": "XP_047284104.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1931,
"cds_start": null,
"cds_end": null,
"cds_length": 5796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428148.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-104+1276G>T",
"hgvs_p": null,
"transcript": "XM_047428149.1",
"protein_id": "XP_047284105.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1931,
"cds_start": null,
"cds_end": null,
"cds_length": 5796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428149.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-104+1276G>T",
"hgvs_p": null,
"transcript": "XM_047428150.1",
"protein_id": "XP_047284106.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1931,
"cds_start": null,
"cds_end": null,
"cds_length": 5796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428150.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.154+6682G>T",
"hgvs_p": null,
"transcript": "XM_047428151.1",
"protein_id": "XP_047284107.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1925,
"cds_start": null,
"cds_end": null,
"cds_length": 5778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428151.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-104+1276G>T",
"hgvs_p": null,
"transcript": "XM_047428153.1",
"protein_id": "XP_047284109.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1924,
"cds_start": null,
"cds_end": null,
"cds_length": 5775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428153.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-104+625G>T",
"hgvs_p": null,
"transcript": "XM_047428154.1",
"protein_id": "XP_047284110.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1924,
"cds_start": null,
"cds_end": null,
"cds_length": 5775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428154.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.154+6682G>T",
"hgvs_p": null,
"transcript": "XM_047428155.1",
"protein_id": "XP_047284111.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1924,
"cds_start": null,
"cds_end": null,
"cds_length": 5775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428155.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-104+625G>T",
"hgvs_p": null,
"transcript": "XM_047428156.1",
"protein_id": "XP_047284112.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1923,
"cds_start": null,
"cds_end": null,
"cds_length": 5772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428156.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-101+625G>T",
"hgvs_p": null,
"transcript": "XM_011537805.3",
"protein_id": "XP_011536107.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1910,
"cds_start": null,
"cds_end": null,
"cds_length": 5733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537805.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-3+5445G>T",
"hgvs_p": null,
"transcript": "XM_011537806.3",
"protein_id": "XP_011536108.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1910,
"cds_start": null,
"cds_end": null,
"cds_length": 5733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537806.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-3+1276G>T",
"hgvs_p": null,
"transcript": "XM_017018741.2",
"protein_id": "XP_016874230.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1910,
"cds_start": null,
"cds_end": null,
"cds_length": 5733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018741.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-3+174G>T",
"hgvs_p": null,
"transcript": "XM_047428140.1",
"protein_id": "XP_047284096.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1910,
"cds_start": null,
"cds_end": null,
"cds_length": 5733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428140.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-3+1276G>T",
"hgvs_p": null,
"transcript": "XM_047428157.1",
"protein_id": "XP_047284113.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1910,
"cds_start": null,
"cds_end": null,
"cds_length": 5733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428157.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-101+1276G>T",
"hgvs_p": null,
"transcript": "XM_047428158.1",
"protein_id": "XP_047284114.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1910,
"cds_start": null,
"cds_end": null,
"cds_length": 5733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428158.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-100-2386G>T",
"hgvs_p": null,
"transcript": "XM_047428159.1",
"protein_id": "XP_047284115.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1910,
"cds_start": null,
"cds_end": null,
"cds_length": 5733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428159.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-164+625G>T",
"hgvs_p": null,
"transcript": "XM_047428160.1",
"protein_id": "XP_047284116.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1910,
"cds_start": null,
"cds_end": null,
"cds_length": 5733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428160.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-3+174G>T",
"hgvs_p": null,
"transcript": "XM_047428143.1",
"protein_id": "XP_047284099.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1903,
"cds_start": null,
"cds_end": null,
"cds_length": 5712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428143.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-3+5445G>T",
"hgvs_p": null,
"transcript": "XM_047428161.1",
"protein_id": "XP_047284117.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1903,
"cds_start": null,
"cds_end": null,
"cds_length": 5712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428161.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-3+5445G>T",
"hgvs_p": null,
"transcript": "XM_047428162.1",
"protein_id": "XP_047284118.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1902,
"cds_start": null,
"cds_end": null,
"cds_length": 5709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428162.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-104+1276G>T",
"hgvs_p": null,
"transcript": "XM_047428163.1",
"protein_id": "XP_047284119.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1901,
"cds_start": null,
"cds_end": null,
"cds_length": 5706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428163.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-104+1276G>T",
"hgvs_p": null,
"transcript": "XM_047428164.1",
"protein_id": "XP_047284120.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1894,
"cds_start": null,
"cds_end": null,
"cds_length": 5685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428164.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-104+625G>T",
"hgvs_p": null,
"transcript": "XM_047428165.1",
"protein_id": "XP_047284121.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1893,
"cds_start": null,
"cds_end": null,
"cds_length": 5682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428165.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.154+6682G>T",
"hgvs_p": null,
"transcript": "XM_047428166.1",
"protein_id": "XP_047284122.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1884,
"cds_start": null,
"cds_end": null,
"cds_length": 5655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428166.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-3+5445G>T",
"hgvs_p": null,
"transcript": "XM_047428167.1",
"protein_id": "XP_047284123.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1880,
"cds_start": null,
"cds_end": null,
"cds_length": 5643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428167.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-3+174G>T",
"hgvs_p": null,
"transcript": "XM_047428152.1",
"protein_id": "XP_047284108.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1873,
"cds_start": null,
"cds_end": null,
"cds_length": 5622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428152.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-3+5445G>T",
"hgvs_p": null,
"transcript": "XM_047428168.1",
"protein_id": "XP_047284124.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1873,
"cds_start": null,
"cds_end": null,
"cds_length": 5622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428168.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-3+5445G>T",
"hgvs_p": null,
"transcript": "XM_047428169.1",
"protein_id": "XP_047284125.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1872,
"cds_start": null,
"cds_end": null,
"cds_length": 5619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428169.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "n.290+1276G>T",
"hgvs_p": null,
"transcript": "ENST00000550730.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000550730.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "n.184+625G>T",
"hgvs_p": null,
"transcript": "ENST00000551959.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000551959.1"
}
],
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"dbsnp": "rs941207",
"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": -0.7799999713897705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.78,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.083,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_013449.4",
"gene_symbol": "BAZ2A",
"hgnc_id": 962,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4+6682G>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}