← 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: 2-33003100-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=33003100&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 33003100,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000404816.7",
"consequences": [
{
"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": 34,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.566-17809G>A",
"hgvs_p": null,
"transcript": "NM_206943.4",
"protein_id": "NP_996826.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1721,
"cds_start": -4,
"cds_end": null,
"cds_length": 5166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6502,
"mane_select": "ENST00000404816.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.566-17809G>A",
"hgvs_p": null,
"transcript": "ENST00000404816.7",
"protein_id": "ENSP00000386043.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1721,
"cds_start": -4,
"cds_end": null,
"cds_length": 5166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6502,
"mane_select": "NM_206943.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 34,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.566-17809G>A",
"hgvs_p": null,
"transcript": "NM_001394905.1",
"protein_id": "NP_001381834.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1668,
"cds_start": -4,
"cds_end": null,
"cds_length": 5007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 34,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.566-17809G>A",
"hgvs_p": null,
"transcript": "XM_011532853.3",
"protein_id": "XP_011531155.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1722,
"cds_start": -4,
"cds_end": null,
"cds_length": 5169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 34,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.566-17809G>A",
"hgvs_p": null,
"transcript": "XM_011532855.3",
"protein_id": "XP_011531157.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1720,
"cds_start": -4,
"cds_end": null,
"cds_length": 5163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 33,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.566-17809G>A",
"hgvs_p": null,
"transcript": "XM_011532856.3",
"protein_id": "XP_011531158.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1682,
"cds_start": -4,
"cds_end": null,
"cds_length": 5049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 33,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.566-17809G>A",
"hgvs_p": null,
"transcript": "XM_017004108.2",
"protein_id": "XP_016859597.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1681,
"cds_start": -4,
"cds_end": null,
"cds_length": 5046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 33,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.566-17809G>A",
"hgvs_p": null,
"transcript": "XM_011532857.3",
"protein_id": "XP_011531159.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1680,
"cds_start": -4,
"cds_end": null,
"cds_length": 5043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 33,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.566-17809G>A",
"hgvs_p": null,
"transcript": "XM_011532858.3",
"protein_id": "XP_011531160.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1680,
"cds_start": -4,
"cds_end": null,
"cds_length": 5043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 33,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.566-17809G>A",
"hgvs_p": null,
"transcript": "XM_017004109.2",
"protein_id": "XP_016859598.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1679,
"cds_start": -4,
"cds_end": null,
"cds_length": 5040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 33,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.566-17809G>A",
"hgvs_p": null,
"transcript": "XM_047444359.1",
"protein_id": "XP_047300315.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1679,
"cds_start": -4,
"cds_end": null,
"cds_length": 5040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 33,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.566-17809G>A",
"hgvs_p": null,
"transcript": "XM_047444360.1",
"protein_id": "XP_047300316.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1678,
"cds_start": -4,
"cds_end": null,
"cds_length": 5037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 33,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.566-17809G>A",
"hgvs_p": null,
"transcript": "XM_047444361.1",
"protein_id": "XP_047300317.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1678,
"cds_start": -4,
"cds_end": null,
"cds_length": 5037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 34,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.566-17809G>A",
"hgvs_p": null,
"transcript": "XM_011532859.3",
"protein_id": "XP_011531161.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1669,
"cds_start": -4,
"cds_end": null,
"cds_length": 5010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 34,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.566-17809G>A",
"hgvs_p": null,
"transcript": "XM_047444362.1",
"protein_id": "XP_047300318.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1667,
"cds_start": -4,
"cds_end": null,
"cds_length": 5004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 33,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.566-17809G>A",
"hgvs_p": null,
"transcript": "XM_011532860.3",
"protein_id": "XP_011531162.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1666,
"cds_start": -4,
"cds_end": null,
"cds_length": 5001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 33,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.566-17809G>A",
"hgvs_p": null,
"transcript": "XM_047444363.1",
"protein_id": "XP_047300319.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1665,
"cds_start": -4,
"cds_end": null,
"cds_length": 4998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 32,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.566-17809G>A",
"hgvs_p": null,
"transcript": "XM_017004110.2",
"protein_id": "XP_016859599.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1639,
"cds_start": -4,
"cds_end": null,
"cds_length": 4920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 32,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.566-17809G>A",
"hgvs_p": null,
"transcript": "XM_047444364.1",
"protein_id": "XP_047300320.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1639,
"cds_start": -4,
"cds_end": null,
"cds_length": 4920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 32,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.566-17809G>A",
"hgvs_p": null,
"transcript": "XM_047444365.1",
"protein_id": "XP_047300321.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1638,
"cds_start": -4,
"cds_end": null,
"cds_length": 4917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 32,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.566-17809G>A",
"hgvs_p": null,
"transcript": "XM_047444366.1",
"protein_id": "XP_047300322.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1637,
"cds_start": -4,
"cds_end": null,
"cds_length": 4914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 32,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.566-17809G>A",
"hgvs_p": null,
"transcript": "XM_047444367.1",
"protein_id": "XP_047300323.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1636,
"cds_start": -4,
"cds_end": null,
"cds_length": 4911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 32,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.566-17809G>A",
"hgvs_p": null,
"transcript": "XM_011532861.3",
"protein_id": "XP_011531163.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1632,
"cds_start": -4,
"cds_end": null,
"cds_length": 4899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 32,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.566-17809G>A",
"hgvs_p": null,
"transcript": "XM_047444368.1",
"protein_id": "XP_047300324.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1631,
"cds_start": -4,
"cds_end": null,
"cds_length": 4896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 32,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.566-17809G>A",
"hgvs_p": null,
"transcript": "XM_047444369.1",
"protein_id": "XP_047300325.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1630,
"cds_start": -4,
"cds_end": null,
"cds_length": 4893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 33,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.566-17809G>A",
"hgvs_p": null,
"transcript": "XM_047444370.1",
"protein_id": "XP_047300326.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1628,
"cds_start": -4,
"cds_end": null,
"cds_length": 4887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 33,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.566-17809G>A",
"hgvs_p": null,
"transcript": "XM_047444371.1",
"protein_id": "XP_047300327.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1627,
"cds_start": -4,
"cds_end": null,
"cds_length": 4884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 33,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.566-17809G>A",
"hgvs_p": null,
"transcript": "XM_047444372.1",
"protein_id": "XP_047300328.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1627,
"cds_start": -4,
"cds_end": null,
"cds_length": 4884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 33,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.566-17809G>A",
"hgvs_p": null,
"transcript": "XM_005264318.4",
"protein_id": "XP_005264375.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1626,
"cds_start": -4,
"cds_end": null,
"cds_length": 4881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 33,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.566-17809G>A",
"hgvs_p": null,
"transcript": "XM_047444373.1",
"protein_id": "XP_047300329.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1626,
"cds_start": -4,
"cds_end": null,
"cds_length": 4881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 33,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.566-17809G>A",
"hgvs_p": null,
"transcript": "XM_047444374.1",
"protein_id": "XP_047300330.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1625,
"cds_start": -4,
"cds_end": null,
"cds_length": 4878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 32,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.566-17809G>A",
"hgvs_p": null,
"transcript": "XM_047444375.1",
"protein_id": "XP_047300331.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1623,
"cds_start": -4,
"cds_end": null,
"cds_length": 4872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 33,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.566-17809G>A",
"hgvs_p": null,
"transcript": "XM_047444376.1",
"protein_id": "XP_047300332.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1612,
"cds_start": -4,
"cds_end": null,
"cds_length": 4839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 32,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.566-17809G>A",
"hgvs_p": null,
"transcript": "XM_047444377.1",
"protein_id": "XP_047300333.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1586,
"cds_start": -4,
"cds_end": null,
"cds_length": 4761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 32,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.566-17809G>A",
"hgvs_p": null,
"transcript": "XM_047444378.1",
"protein_id": "XP_047300334.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1586,
"cds_start": -4,
"cds_end": null,
"cds_length": 4761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 32,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.566-17809G>A",
"hgvs_p": null,
"transcript": "XM_047444379.1",
"protein_id": "XP_047300335.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1584,
"cds_start": -4,
"cds_end": null,
"cds_length": 4755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 32,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.566-17809G>A",
"hgvs_p": null,
"transcript": "XM_047444380.1",
"protein_id": "XP_047300336.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1583,
"cds_start": -4,
"cds_end": null,
"cds_length": 4752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 32,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.566-17809G>A",
"hgvs_p": null,
"transcript": "XM_047444381.1",
"protein_id": "XP_047300337.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1578,
"cds_start": -4,
"cds_end": null,
"cds_length": 4737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 32,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.566-17809G>A",
"hgvs_p": null,
"transcript": "XM_047444382.1",
"protein_id": "XP_047300338.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1570,
"cds_start": -4,
"cds_end": null,
"cds_length": 4713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"dbsnp": "rs7582215",
"frequency_reference_population": 0.36084962,
"hom_count_reference_population": 10377,
"allele_count_reference_population": 54891,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.36085,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 54891,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 10377,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9599999785423279,
"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": -0.96,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.498,
"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": "ENST00000404816.7",
"gene_symbol": "LTBP1",
"hgnc_id": 6714,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.566-17809G>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
}