← 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: 14-67322840-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=67322840&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 67322840,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_022474.4",
"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": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PALS1",
"gene_hgnc_id": 18669,
"hgvs_c": "c.1741-862G>A",
"hgvs_p": null,
"transcript": "NM_022474.4",
"protein_id": "NP_071919.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 675,
"cds_start": null,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261681.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022474.4"
},
{
"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": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PALS1",
"gene_hgnc_id": 18669,
"hgvs_c": "c.1741-862G>A",
"hgvs_p": null,
"transcript": "ENST00000261681.9",
"protein_id": "ENSP00000261681.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 675,
"cds_start": null,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022474.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261681.9"
},
{
"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": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PALS1",
"gene_hgnc_id": 18669,
"hgvs_c": "c.1639-862G>A",
"hgvs_p": null,
"transcript": "ENST00000555925.5",
"protein_id": "ENSP00000451488.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 641,
"cds_start": null,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555925.5"
},
{
"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": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PALS1",
"gene_hgnc_id": 18669,
"hgvs_c": "c.1741-862G>A",
"hgvs_p": null,
"transcript": "ENST00000676464.1",
"protein_id": "ENSP00000503713.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 675,
"cds_start": null,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676464.1"
},
{
"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": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PALS1",
"gene_hgnc_id": 18669,
"hgvs_c": "c.1741-862G>A",
"hgvs_p": null,
"transcript": "ENST00000677382.1",
"protein_id": "ENSP00000503322.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 675,
"cds_start": null,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677382.1"
},
{
"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": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PALS1",
"gene_hgnc_id": 18669,
"hgvs_c": "c.1741-862G>A",
"hgvs_p": null,
"transcript": "ENST00000677835.1",
"protein_id": "ENSP00000503517.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 675,
"cds_start": null,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677835.1"
},
{
"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": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PALS1",
"gene_hgnc_id": 18669,
"hgvs_c": "c.1741-862G>A",
"hgvs_p": null,
"transcript": "ENST00000678380.1",
"protein_id": "ENSP00000503321.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 675,
"cds_start": null,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678380.1"
},
{
"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": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PALS1",
"gene_hgnc_id": 18669,
"hgvs_c": "c.1741-862G>A",
"hgvs_p": null,
"transcript": "ENST00000909495.1",
"protein_id": "ENSP00000579554.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 675,
"cds_start": null,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909495.1"
},
{
"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": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PALS1",
"gene_hgnc_id": 18669,
"hgvs_c": "c.1741-862G>A",
"hgvs_p": null,
"transcript": "ENST00000909496.1",
"protein_id": "ENSP00000579555.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 675,
"cds_start": null,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909496.1"
},
{
"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": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PALS1",
"gene_hgnc_id": 18669,
"hgvs_c": "c.1741-862G>A",
"hgvs_p": null,
"transcript": "ENST00000954198.1",
"protein_id": "ENSP00000624257.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 675,
"cds_start": null,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954198.1"
},
{
"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": 17,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PALS1",
"gene_hgnc_id": 18669,
"hgvs_c": "c.1741-862G>A",
"hgvs_p": null,
"transcript": "ENST00000954199.1",
"protein_id": "ENSP00000624258.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 675,
"cds_start": null,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954199.1"
},
{
"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": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PALS1",
"gene_hgnc_id": 18669,
"hgvs_c": "c.1690-862G>A",
"hgvs_p": null,
"transcript": "ENST00000909497.1",
"protein_id": "ENSP00000579556.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 658,
"cds_start": null,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909497.1"
},
{
"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": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PALS1",
"gene_hgnc_id": 18669,
"hgvs_c": "c.1639-862G>A",
"hgvs_p": null,
"transcript": "NM_001256550.2",
"protein_id": "NP_001243479.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 641,
"cds_start": null,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256550.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PALS1",
"gene_hgnc_id": 18669,
"hgvs_c": "c.1594-862G>A",
"hgvs_p": null,
"transcript": "ENST00000954200.1",
"protein_id": "ENSP00000624259.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 626,
"cds_start": null,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954200.1"
},
{
"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": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PALS1",
"gene_hgnc_id": 18669,
"hgvs_c": "c.1741-862G>A",
"hgvs_p": null,
"transcript": "XM_011537086.3",
"protein_id": "XP_011535388.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 675,
"cds_start": null,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537086.3"
},
{
"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": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PALS1",
"gene_hgnc_id": 18669,
"hgvs_c": "c.1741-862G>A",
"hgvs_p": null,
"transcript": "XM_011537087.3",
"protein_id": "XP_011535389.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 675,
"cds_start": null,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537087.3"
},
{
"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": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PALS1",
"gene_hgnc_id": 18669,
"hgvs_c": "c.1741-862G>A",
"hgvs_p": null,
"transcript": "XM_047431690.1",
"protein_id": "XP_047287646.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 675,
"cds_start": null,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431690.1"
},
{
"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": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PALS1",
"gene_hgnc_id": 18669,
"hgvs_c": "c.1741-862G>A",
"hgvs_p": null,
"transcript": "XM_047431691.1",
"protein_id": "XP_047287647.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 675,
"cds_start": null,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431691.1"
},
{
"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": 17,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PALS1",
"gene_hgnc_id": 18669,
"hgvs_c": "c.1741-862G>A",
"hgvs_p": null,
"transcript": "XM_047431692.1",
"protein_id": "XP_047287648.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 675,
"cds_start": null,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431692.1"
},
{
"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": 17,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PALS1",
"gene_hgnc_id": 18669,
"hgvs_c": "c.1741-862G>A",
"hgvs_p": null,
"transcript": "XM_047431693.1",
"protein_id": "XP_047287649.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 675,
"cds_start": null,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431693.1"
},
{
"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": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PALS1",
"gene_hgnc_id": 18669,
"hgvs_c": "c.1639-862G>A",
"hgvs_p": null,
"transcript": "XM_005268003.2",
"protein_id": "XP_005268060.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 641,
"cds_start": null,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005268003.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PALS1",
"gene_hgnc_id": 18669,
"hgvs_c": "c.1639-862G>A",
"hgvs_p": null,
"transcript": "XM_024449691.2",
"protein_id": "XP_024305459.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 641,
"cds_start": null,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449691.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PALS1",
"gene_hgnc_id": 18669,
"hgvs_c": "c.1639-862G>A",
"hgvs_p": null,
"transcript": "XM_024449692.2",
"protein_id": "XP_024305460.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 641,
"cds_start": null,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449692.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PALS1",
"gene_hgnc_id": 18669,
"hgvs_c": "c.1639-862G>A",
"hgvs_p": null,
"transcript": "XM_047431695.1",
"protein_id": "XP_047287651.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 641,
"cds_start": null,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431695.1"
},
{
"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": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PALS1",
"gene_hgnc_id": 18669,
"hgvs_c": "c.1225-862G>A",
"hgvs_p": null,
"transcript": "XM_047431696.1",
"protein_id": "XP_047287652.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 503,
"cds_start": null,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431696.1"
},
{
"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": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1312+264054G>A",
"hgvs_p": null,
"transcript": "XM_047430879.1",
"protein_id": "XP_047286835.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 485,
"cds_start": null,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430879.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALS1",
"gene_hgnc_id": 18669,
"hgvs_c": "n.3678G>A",
"hgvs_p": null,
"transcript": "ENST00000677222.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000677222.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ATP6V1D",
"gene_hgnc_id": 13527,
"hgvs_c": "n.483-10657C>T",
"hgvs_p": null,
"transcript": "ENST00000553974.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000553974.1"
},
{
"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": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ATP6V1D",
"gene_hgnc_id": 13527,
"hgvs_c": "n.*153-10657C>T",
"hgvs_p": null,
"transcript": "ENST00000554087.5",
"protein_id": "ENSP00000451167.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000554087.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PALS1",
"gene_hgnc_id": 18669,
"hgvs_c": "n.2054-862G>A",
"hgvs_p": null,
"transcript": "ENST00000677972.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000677972.1"
}
],
"gene_symbol": "PALS1",
"gene_hgnc_id": 18669,
"dbsnp": "rs10138824",
"frequency_reference_population": 0.14932519,
"hom_count_reference_population": 3172,
"allele_count_reference_population": 22704,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.149325,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 22704,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 3172,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8500000238418579,
"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": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.782,
"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_022474.4",
"gene_symbol": "PALS1",
"hgnc_id": 18669,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1741-862G>A",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000553974.1",
"gene_symbol": "ATP6V1D",
"hgnc_id": 13527,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.483-10657C>T",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "XM_047430879.1",
"gene_symbol": "GPHN",
"hgnc_id": 15465,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1312+264054G>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
}