← 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: 6-109495381-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=109495381&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 109495381,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001145128.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK9",
"gene_hgnc_id": 33814,
"hgvs_c": "c.5375C>T",
"hgvs_p": "p.Pro1792Leu",
"transcript": "NM_001145128.3",
"protein_id": "NP_001138600.2",
"transcript_support_level": null,
"aa_start": 1792,
"aa_end": null,
"aa_length": 1911,
"cds_start": 5375,
"cds_end": null,
"cds_length": 5736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000424296.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145128.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK9",
"gene_hgnc_id": 33814,
"hgvs_c": "c.5375C>T",
"hgvs_p": "p.Pro1792Leu",
"transcript": "ENST00000424296.7",
"protein_id": "ENSP00000410186.2",
"transcript_support_level": 5,
"aa_start": 1792,
"aa_end": null,
"aa_length": 1911,
"cds_start": 5375,
"cds_end": null,
"cds_length": 5736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001145128.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424296.7"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK9",
"gene_hgnc_id": 33814,
"hgvs_c": "c.575C>T",
"hgvs_p": "p.Pro192Leu",
"transcript": "ENST00000490722.1",
"protein_id": "ENSP00000419758.1",
"transcript_support_level": 1,
"aa_start": 192,
"aa_end": null,
"aa_length": 311,
"cds_start": 575,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000490722.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK9",
"gene_hgnc_id": 33814,
"hgvs_c": "c.1886C>T",
"hgvs_p": "p.Pro629Leu",
"transcript": "ENST00000470564.5",
"protein_id": "ENSP00000418771.1",
"transcript_support_level": 5,
"aa_start": 629,
"aa_end": null,
"aa_length": 748,
"cds_start": 1886,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000470564.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK9",
"gene_hgnc_id": 33814,
"hgvs_c": "c.5606C>T",
"hgvs_p": "p.Pro1869Leu",
"transcript": "XM_011535550.3",
"protein_id": "XP_011533852.1",
"transcript_support_level": null,
"aa_start": 1869,
"aa_end": null,
"aa_length": 1988,
"cds_start": 5606,
"cds_end": null,
"cds_length": 5967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535550.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK9",
"gene_hgnc_id": 33814,
"hgvs_c": "c.5606C>T",
"hgvs_p": "p.Pro1869Leu",
"transcript": "XM_024446350.2",
"protein_id": "XP_024302118.1",
"transcript_support_level": null,
"aa_start": 1869,
"aa_end": null,
"aa_length": 1988,
"cds_start": 5606,
"cds_end": null,
"cds_length": 5967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446350.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK9",
"gene_hgnc_id": 33814,
"hgvs_c": "c.5591C>T",
"hgvs_p": "p.Pro1864Leu",
"transcript": "XM_006715376.4",
"protein_id": "XP_006715439.2",
"transcript_support_level": null,
"aa_start": 1864,
"aa_end": null,
"aa_length": 1983,
"cds_start": 5591,
"cds_end": null,
"cds_length": 5952,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715376.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK9",
"gene_hgnc_id": 33814,
"hgvs_c": "c.5390C>T",
"hgvs_p": "p.Pro1797Leu",
"transcript": "XM_011535552.3",
"protein_id": "XP_011533854.1",
"transcript_support_level": null,
"aa_start": 1797,
"aa_end": null,
"aa_length": 1916,
"cds_start": 5390,
"cds_end": null,
"cds_length": 5751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535552.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK9",
"gene_hgnc_id": 33814,
"hgvs_c": "c.5390C>T",
"hgvs_p": "p.Pro1797Leu",
"transcript": "XM_011535553.4",
"protein_id": "XP_011533855.1",
"transcript_support_level": null,
"aa_start": 1797,
"aa_end": null,
"aa_length": 1916,
"cds_start": 5390,
"cds_end": null,
"cds_length": 5751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535553.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK9",
"gene_hgnc_id": 33814,
"hgvs_c": "c.5285C>T",
"hgvs_p": "p.Pro1762Leu",
"transcript": "XM_011535554.3",
"protein_id": "XP_011533856.1",
"transcript_support_level": null,
"aa_start": 1762,
"aa_end": null,
"aa_length": 1881,
"cds_start": 5285,
"cds_end": null,
"cds_length": 5646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535554.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK9",
"gene_hgnc_id": 33814,
"hgvs_c": "c.5069C>T",
"hgvs_p": "p.Pro1690Leu",
"transcript": "XM_047418304.1",
"protein_id": "XP_047274260.1",
"transcript_support_level": null,
"aa_start": 1690,
"aa_end": null,
"aa_length": 1809,
"cds_start": 5069,
"cds_end": null,
"cds_length": 5430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418304.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK9",
"gene_hgnc_id": 33814,
"hgvs_c": "c.5069C>T",
"hgvs_p": "p.Pro1690Leu",
"transcript": "XM_047418305.1",
"protein_id": "XP_047274261.1",
"transcript_support_level": null,
"aa_start": 1690,
"aa_end": null,
"aa_length": 1809,
"cds_start": 5069,
"cds_end": null,
"cds_length": 5430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418305.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK9",
"gene_hgnc_id": 33814,
"hgvs_c": "c.4745C>T",
"hgvs_p": "p.Pro1582Leu",
"transcript": "XM_017010385.3",
"protein_id": "XP_016865874.1",
"transcript_support_level": null,
"aa_start": 1582,
"aa_end": null,
"aa_length": 1701,
"cds_start": 4745,
"cds_end": null,
"cds_length": 5106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010385.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK9",
"gene_hgnc_id": 33814,
"hgvs_c": "c.4244C>T",
"hgvs_p": "p.Pro1415Leu",
"transcript": "XM_047418306.1",
"protein_id": "XP_047274262.1",
"transcript_support_level": null,
"aa_start": 1415,
"aa_end": null,
"aa_length": 1534,
"cds_start": 4244,
"cds_end": null,
"cds_length": 4605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418306.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK9",
"gene_hgnc_id": 33814,
"hgvs_c": "c.3218C>T",
"hgvs_p": "p.Pro1073Leu",
"transcript": "XM_011535558.1",
"protein_id": "XP_011533860.1",
"transcript_support_level": null,
"aa_start": 1073,
"aa_end": null,
"aa_length": 1192,
"cds_start": 3218,
"cds_end": null,
"cds_length": 3579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535558.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZBTB24-DT",
"gene_hgnc_id": 55872,
"hgvs_c": "n.258+813G>A",
"hgvs_p": null,
"transcript": "ENST00000423747.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000423747.2"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZBTB24-DT",
"gene_hgnc_id": 55872,
"hgvs_c": "n.1428+813G>A",
"hgvs_p": null,
"transcript": "ENST00000658720.1",
"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": "pseudogene",
"feature": "ENST00000658720.1"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZBTB24-DT",
"gene_hgnc_id": 55872,
"hgvs_c": "n.587+813G>A",
"hgvs_p": null,
"transcript": "ENST00000753218.1",
"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": "pseudogene",
"feature": "ENST00000753218.1"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZBTB24-DT",
"gene_hgnc_id": 55872,
"hgvs_c": "n.312+813G>A",
"hgvs_p": null,
"transcript": "ENST00000753219.1",
"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": "pseudogene",
"feature": "ENST00000753219.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZBTB24-DT",
"gene_hgnc_id": 55872,
"hgvs_c": "n.158+7322G>A",
"hgvs_p": null,
"transcript": "ENST00000753220.1",
"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": "pseudogene",
"feature": "ENST00000753220.1"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZBTB24-DT",
"gene_hgnc_id": 55872,
"hgvs_c": "n.322+813G>A",
"hgvs_p": null,
"transcript": "ENST00000753221.1",
"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": "pseudogene",
"feature": "ENST00000753221.1"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZBTB24-DT",
"gene_hgnc_id": 55872,
"hgvs_c": "n.296+813G>A",
"hgvs_p": null,
"transcript": "ENST00000753222.1",
"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": "pseudogene",
"feature": "ENST00000753222.1"
},
{
"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": "ZBTB24-DT",
"gene_hgnc_id": 55872,
"hgvs_c": "n.281+813G>A",
"hgvs_p": null,
"transcript": "ENST00000753223.1",
"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": "pseudogene",
"feature": "ENST00000753223.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZBTB24-DT",
"gene_hgnc_id": 55872,
"hgvs_c": "n.175+7322G>A",
"hgvs_p": null,
"transcript": "ENST00000753224.1",
"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": "pseudogene",
"feature": "ENST00000753224.1"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZBTB24-DT",
"gene_hgnc_id": 55872,
"hgvs_c": "n.799+813G>A",
"hgvs_p": null,
"transcript": "ENST00000753225.1",
"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": "pseudogene",
"feature": "ENST00000753225.1"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZBTB24-DT",
"gene_hgnc_id": 55872,
"hgvs_c": "n.578+813G>A",
"hgvs_p": null,
"transcript": "ENST00000753226.1",
"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": "pseudogene",
"feature": "ENST00000753226.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZBTB24-DT",
"gene_hgnc_id": 55872,
"hgvs_c": "n.1422+813G>A",
"hgvs_p": null,
"transcript": "NR_187591.1",
"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": "pseudogene",
"feature": "NR_187591.1"
}
],
"gene_symbol": "AK9",
"gene_hgnc_id": 33814,
"dbsnp": "rs144374788",
"frequency_reference_population": 0.00017290874,
"hom_count_reference_population": 1,
"allele_count_reference_population": 279,
"gnomad_exomes_af": 0.000177221,
"gnomad_genomes_af": 0.000131479,
"gnomad_exomes_ac": 259,
"gnomad_genomes_ac": 20,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.028765827417373657,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.405,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2531,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.235,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.06,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001145128.3",
"gene_symbol": "AK9",
"hgnc_id": 33814,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5375C>T",
"hgvs_p": "p.Pro1792Leu"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000423747.2",
"gene_symbol": "ZBTB24-DT",
"hgnc_id": 55872,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.258+813G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}