← 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: 2-159434566-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=159434566&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 159434566,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_013450.4",
"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": 37,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1294-1203G>A",
"hgvs_p": null,
"transcript": "NM_013450.4",
"protein_id": "NP_038478.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2168,
"cds_start": null,
"cds_end": null,
"cds_length": 6507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000392783.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013450.4"
},
{
"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": 37,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1294-1203G>A",
"hgvs_p": null,
"transcript": "ENST00000392783.7",
"protein_id": "ENSP00000376534.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2168,
"cds_start": null,
"cds_end": null,
"cds_length": 6507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013450.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392783.7"
},
{
"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": 36,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1288-1203G>A",
"hgvs_p": null,
"transcript": "ENST00000392782.5",
"protein_id": "ENSP00000376533.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2132,
"cds_start": null,
"cds_end": null,
"cds_length": 6399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392782.5"
},
{
"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": 38,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1294-1203G>A",
"hgvs_p": null,
"transcript": "ENST00000911534.1",
"protein_id": "ENSP00000581593.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2168,
"cds_start": null,
"cds_end": null,
"cds_length": 6507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911534.1"
},
{
"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": 37,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1294-1203G>A",
"hgvs_p": null,
"transcript": "ENST00000911538.1",
"protein_id": "ENSP00000581597.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2168,
"cds_start": null,
"cds_end": null,
"cds_length": 6507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911538.1"
},
{
"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": 37,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1288-1203G>A",
"hgvs_p": null,
"transcript": "ENST00000718451.1",
"protein_id": "ENSP00000520831.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2160,
"cds_start": null,
"cds_end": null,
"cds_length": 6483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000718451.1"
},
{
"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": 37,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1105-1203G>A",
"hgvs_p": null,
"transcript": "NM_001329857.2",
"protein_id": "NP_001316786.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2149,
"cds_start": null,
"cds_end": null,
"cds_length": 6450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329857.2"
},
{
"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": 37,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1294-1203G>A",
"hgvs_p": null,
"transcript": "NM_001329858.2",
"protein_id": "NP_001316787.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2143,
"cds_start": null,
"cds_end": null,
"cds_length": 6432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329858.2"
},
{
"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": 36,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1294-1203G>A",
"hgvs_p": null,
"transcript": "ENST00000911535.1",
"protein_id": "ENSP00000581594.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2134,
"cds_start": null,
"cds_end": null,
"cds_length": 6405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911535.1"
},
{
"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": 36,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1288-1203G>A",
"hgvs_p": null,
"transcript": "NM_001289975.1",
"protein_id": "NP_001276904.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2132,
"cds_start": null,
"cds_end": null,
"cds_length": 6399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289975.1"
},
{
"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": 35,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1294-1203G>A",
"hgvs_p": null,
"transcript": "ENST00000911537.1",
"protein_id": "ENSP00000581596.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2036,
"cds_start": null,
"cds_end": null,
"cds_length": 6111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911537.1"
},
{
"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": 34,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1126-1203G>A",
"hgvs_p": null,
"transcript": "ENST00000911536.1",
"protein_id": "ENSP00000581595.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1980,
"cds_start": null,
"cds_end": null,
"cds_length": 5943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911536.1"
},
{
"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": 37,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1345-1203G>A",
"hgvs_p": null,
"transcript": "XM_047444037.1",
"protein_id": "XP_047299993.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2248,
"cds_start": null,
"cds_end": null,
"cds_length": 6747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444037.1"
},
{
"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": 39,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1294-1203G>A",
"hgvs_p": null,
"transcript": "XM_005246488.3",
"protein_id": "XP_005246545.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2242,
"cds_start": null,
"cds_end": null,
"cds_length": 6729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246488.3"
},
{
"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": 38,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1294-1203G>A",
"hgvs_p": null,
"transcript": "XM_005246489.5",
"protein_id": "XP_005246546.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2242,
"cds_start": null,
"cds_end": null,
"cds_length": 6729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246489.5"
},
{
"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": 44,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1294-1203G>A",
"hgvs_p": null,
"transcript": "XM_017003920.2",
"protein_id": "XP_016859409.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2242,
"cds_start": null,
"cds_end": null,
"cds_length": 6729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003920.2"
},
{
"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": 43,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1294-1203G>A",
"hgvs_p": null,
"transcript": "XM_047444038.1",
"protein_id": "XP_047299994.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2242,
"cds_start": null,
"cds_end": null,
"cds_length": 6729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444038.1"
},
{
"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": 43,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1294-1203G>A",
"hgvs_p": null,
"transcript": "XM_047444039.1",
"protein_id": "XP_047299995.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2242,
"cds_start": null,
"cds_end": null,
"cds_length": 6729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444039.1"
},
{
"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": 42,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1294-1203G>A",
"hgvs_p": null,
"transcript": "XM_047444040.1",
"protein_id": "XP_047299996.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2242,
"cds_start": null,
"cds_end": null,
"cds_length": 6729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444040.1"
},
{
"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": 43,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1294-1203G>A",
"hgvs_p": null,
"transcript": "XM_047444041.1",
"protein_id": "XP_047299997.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2242,
"cds_start": null,
"cds_end": null,
"cds_length": 6729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444041.1"
},
{
"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": 43,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1294-1203G>A",
"hgvs_p": null,
"transcript": "XM_047444042.1",
"protein_id": "XP_047299998.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2242,
"cds_start": null,
"cds_end": null,
"cds_length": 6729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444042.1"
},
{
"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": 43,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1294-1203G>A",
"hgvs_p": null,
"transcript": "XM_047444043.1",
"protein_id": "XP_047299999.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2242,
"cds_start": null,
"cds_end": null,
"cds_length": 6729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444043.1"
},
{
"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": 42,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1294-1203G>A",
"hgvs_p": null,
"transcript": "XM_047444044.1",
"protein_id": "XP_047300000.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2242,
"cds_start": null,
"cds_end": null,
"cds_length": 6729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444044.1"
},
{
"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": 42,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1294-1203G>A",
"hgvs_p": null,
"transcript": "XM_047444045.1",
"protein_id": "XP_047300001.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2242,
"cds_start": null,
"cds_end": null,
"cds_length": 6729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444045.1"
},
{
"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": 42,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1294-1203G>A",
"hgvs_p": null,
"transcript": "XM_047444046.1",
"protein_id": "XP_047300002.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2242,
"cds_start": null,
"cds_end": null,
"cds_length": 6729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444046.1"
},
{
"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": 42,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1294-1203G>A",
"hgvs_p": null,
"transcript": "XM_047444047.1",
"protein_id": "XP_047300003.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2242,
"cds_start": null,
"cds_end": null,
"cds_length": 6729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444047.1"
},
{
"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": 42,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1294-1203G>A",
"hgvs_p": null,
"transcript": "XM_047444048.1",
"protein_id": "XP_047300004.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2242,
"cds_start": null,
"cds_end": null,
"cds_length": 6729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444048.1"
},
{
"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": 38,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1288-1203G>A",
"hgvs_p": null,
"transcript": "XM_005246492.5",
"protein_id": "XP_005246549.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2240,
"cds_start": null,
"cds_end": null,
"cds_length": 6723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246492.5"
},
{
"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": 37,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1294-1203G>A",
"hgvs_p": null,
"transcript": "XM_011511038.3",
"protein_id": "XP_011509340.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2240,
"cds_start": null,
"cds_end": null,
"cds_length": 6723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511038.3"
},
{
"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": 37,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1345-1203G>A",
"hgvs_p": null,
"transcript": "XM_047444051.1",
"protein_id": "XP_047300007.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2213,
"cds_start": null,
"cds_end": null,
"cds_length": 6642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444051.1"
},
{
"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": 36,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1294-1203G>A",
"hgvs_p": null,
"transcript": "XM_017003923.1",
"protein_id": "XP_016859412.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2212,
"cds_start": null,
"cds_end": null,
"cds_length": 6639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003923.1"
},
{
"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": 42,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1294-1203G>A",
"hgvs_p": null,
"transcript": "XM_047444052.1",
"protein_id": "XP_047300008.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2208,
"cds_start": null,
"cds_end": null,
"cds_length": 6627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444052.1"
},
{
"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": 37,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1294-1203G>A",
"hgvs_p": null,
"transcript": "XM_011511042.1",
"protein_id": "XP_011509344.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2207,
"cds_start": null,
"cds_end": null,
"cds_length": 6624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511042.1"
},
{
"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": 36,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1288-1203G>A",
"hgvs_p": null,
"transcript": "XM_017003924.1",
"protein_id": "XP_016859413.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2206,
"cds_start": null,
"cds_end": null,
"cds_length": 6621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003924.1"
},
{
"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": 36,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1294-1203G>A",
"hgvs_p": null,
"transcript": "XM_047444049.1",
"protein_id": "XP_047300005.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2206,
"cds_start": null,
"cds_end": null,
"cds_length": 6621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444049.1"
},
{
"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": 36,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1288-1203G>A",
"hgvs_p": null,
"transcript": "XM_047444050.1",
"protein_id": "XP_047300006.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2204,
"cds_start": null,
"cds_end": null,
"cds_length": 6615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444050.1"
},
{
"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": 35,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1294-1203G>A",
"hgvs_p": null,
"transcript": "XM_011511043.1",
"protein_id": "XP_011509345.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2197,
"cds_start": null,
"cds_end": null,
"cds_length": 6594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511043.1"
},
{
"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": 42,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1105-1203G>A",
"hgvs_p": null,
"transcript": "XM_047444055.1",
"protein_id": "XP_047300011.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2179,
"cds_start": null,
"cds_end": null,
"cds_length": 6540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444055.1"
},
{
"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": 35,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1294-1203G>A",
"hgvs_p": null,
"transcript": "XM_011511044.1",
"protein_id": "XP_011509346.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2178,
"cds_start": null,
"cds_end": null,
"cds_length": 6537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511044.1"
},
{
"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": 36,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1099-1203G>A",
"hgvs_p": null,
"transcript": "XM_011511045.1",
"protein_id": "XP_011509347.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2177,
"cds_start": null,
"cds_end": null,
"cds_length": 6534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511045.1"
},
{
"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": 36,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1294-1203G>A",
"hgvs_p": null,
"transcript": "XM_047444053.1",
"protein_id": "XP_047300009.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2177,
"cds_start": null,
"cds_end": null,
"cds_length": 6534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444053.1"
},
{
"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": 34,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1294-1203G>A",
"hgvs_p": null,
"transcript": "XM_047444054.1",
"protein_id": "XP_047300010.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2169,
"cds_start": null,
"cds_end": null,
"cds_length": 6510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444054.1"
},
{
"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": 35,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1105-1203G>A",
"hgvs_p": null,
"transcript": "XM_047444056.1",
"protein_id": "XP_047300012.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2145,
"cds_start": null,
"cds_end": null,
"cds_length": 6438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444056.1"
},
{
"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": 37,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1294-1203G>A",
"hgvs_p": null,
"transcript": "XM_047444059.1",
"protein_id": "XP_047300015.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2144,
"cds_start": null,
"cds_end": null,
"cds_length": 6435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444059.1"
},
{
"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": 35,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1099-1203G>A",
"hgvs_p": null,
"transcript": "XM_047444057.1",
"protein_id": "XP_047300013.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2143,
"cds_start": null,
"cds_end": null,
"cds_length": 6432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444057.1"
},
{
"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": 36,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1288-1203G>A",
"hgvs_p": null,
"transcript": "XM_011511050.1",
"protein_id": "XP_011509352.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2142,
"cds_start": null,
"cds_end": null,
"cds_length": 6429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511050.1"
},
{
"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": 36,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1294-1203G>A",
"hgvs_p": null,
"transcript": "XM_017003930.2",
"protein_id": "XP_016859419.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2142,
"cds_start": null,
"cds_end": null,
"cds_length": 6429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003930.2"
},
{
"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": 35,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1288-1203G>A",
"hgvs_p": null,
"transcript": "XM_011511051.1",
"protein_id": "XP_011509353.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2141,
"cds_start": null,
"cds_end": null,
"cds_length": 6426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511051.1"
},
{
"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": 35,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1294-1203G>A",
"hgvs_p": null,
"transcript": "XM_047444058.1",
"protein_id": "XP_047300014.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2133,
"cds_start": null,
"cds_end": null,
"cds_length": 6402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444058.1"
},
{
"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": 35,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1294-1203G>A",
"hgvs_p": null,
"transcript": "XM_011511052.1",
"protein_id": "XP_011509354.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2110,
"cds_start": null,
"cds_end": null,
"cds_length": 6333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511052.1"
},
{
"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": 35,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1294-1203G>A",
"hgvs_p": null,
"transcript": "XM_047444060.1",
"protein_id": "XP_047300016.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2108,
"cds_start": null,
"cds_end": null,
"cds_length": 6327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444060.1"
},
{
"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": 34,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1294-1203G>A",
"hgvs_p": null,
"transcript": "XM_047444061.1",
"protein_id": "XP_047300017.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2099,
"cds_start": null,
"cds_end": null,
"cds_length": 6300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444061.1"
},
{
"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": 35,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1105-1203G>A",
"hgvs_p": null,
"transcript": "XM_047444062.1",
"protein_id": "XP_047300018.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2081,
"cds_start": null,
"cds_end": null,
"cds_length": 6246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444062.1"
},
{
"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": 33,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1294-1203G>A",
"hgvs_p": null,
"transcript": "XM_047444063.1",
"protein_id": "XP_047300019.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2036,
"cds_start": null,
"cds_end": null,
"cds_length": 6111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444063.1"
},
{
"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": 34,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1099-1203G>A",
"hgvs_p": null,
"transcript": "XM_047444064.1",
"protein_id": "XP_047300020.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2010,
"cds_start": null,
"cds_end": null,
"cds_length": 6033,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444064.1"
},
{
"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": 33,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1294-1203G>A",
"hgvs_p": null,
"transcript": "XM_047444065.1",
"protein_id": "XP_047300021.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1952,
"cds_start": null,
"cds_end": null,
"cds_length": 5859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444065.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "n.988G>A",
"hgvs_p": null,
"transcript": "ENST00000472953.1",
"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": "retained_intron",
"feature": "ENST00000472953.1"
}
],
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"dbsnp": "rs740",
"frequency_reference_population": 0.32418978,
"hom_count_reference_population": 9800,
"allele_count_reference_population": 49236,
"gnomad_exomes_af": 0.5,
"gnomad_genomes_af": 0.324181,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 49232,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 9799,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7699999809265137,
"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": -0.77,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.317,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_013450.4",
"gene_symbol": "BAZ2B",
"hgnc_id": 963,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1294-1203G>A",
"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
}