← 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: 15-49239249-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=49239249&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 49239249,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002044.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Gly129Glu",
"transcript": "NM_002044.4",
"protein_id": "NP_002035.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 458,
"cds_start": 386,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 462,
"cdna_end": null,
"cdna_length": 5176,
"mane_select": "ENST00000560031.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Gly129Glu",
"transcript": "ENST00000560031.6",
"protein_id": "ENSP00000453129.1",
"transcript_support_level": 1,
"aa_start": 129,
"aa_end": null,
"aa_length": 458,
"cds_start": 386,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 462,
"cdna_end": null,
"cdna_length": 5176,
"mane_select": "NM_002044.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.353G>A",
"hgvs_p": "p.Gly118Glu",
"transcript": "ENST00000327171.7",
"protein_id": "ENSP00000316632.3",
"transcript_support_level": 1,
"aa_start": 118,
"aa_end": null,
"aa_length": 447,
"cds_start": 353,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 585,
"cdna_end": null,
"cdna_length": 5299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.353G>A",
"hgvs_p": "p.Gly118Glu",
"transcript": "NM_001001556.3",
"protein_id": "NP_001001556.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 447,
"cds_start": 353,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 576,
"cdna_end": null,
"cdna_length": 5290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Gly105Glu",
"transcript": "NM_001289030.2",
"protein_id": "NP_001275959.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 434,
"cds_start": 314,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 592,
"cdna_end": null,
"cdna_length": 5306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Gly105Glu",
"transcript": "NM_001289031.1",
"protein_id": "NP_001275960.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 434,
"cds_start": 314,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 3313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Gly105Glu",
"transcript": "ENST00000396509.6",
"protein_id": "ENSP00000379766.2",
"transcript_support_level": 2,
"aa_start": 105,
"aa_end": null,
"aa_length": 434,
"cds_start": 314,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 488,
"cdna_end": null,
"cdna_length": 1834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Gly105Glu",
"transcript": "ENST00000544523.5",
"protein_id": "ENSP00000440312.1",
"transcript_support_level": 2,
"aa_start": 105,
"aa_end": null,
"aa_length": 434,
"cds_start": 314,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 1950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Gly105Glu",
"transcript": "ENST00000559454.5",
"protein_id": "ENSP00000453133.1",
"transcript_support_level": 5,
"aa_start": 105,
"aa_end": null,
"aa_length": 434,
"cds_start": 314,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 433,
"cdna_end": null,
"cdna_length": 1768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Gly105Glu",
"transcript": "ENST00000560138.5",
"protein_id": "ENSP00000452614.1",
"transcript_support_level": 5,
"aa_start": 105,
"aa_end": null,
"aa_length": 208,
"cds_start": 314,
"cds_end": null,
"cds_length": 627,
"cdna_start": 409,
"cdna_end": null,
"cdna_length": 722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Gly105Glu",
"transcript": "ENST00000560654.5",
"protein_id": "ENSP00000453961.1",
"transcript_support_level": 5,
"aa_start": 105,
"aa_end": null,
"aa_length": 130,
"cds_start": 314,
"cds_end": null,
"cds_length": 395,
"cdna_start": 703,
"cdna_end": null,
"cdna_length": 784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Gly105Glu",
"transcript": "XM_047432347.1",
"protein_id": "XP_047288303.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 477,
"cds_start": 314,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 2005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Gly105Glu",
"transcript": "XM_047432348.1",
"protein_id": "XP_047288304.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 477,
"cds_start": 314,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 463,
"cdna_end": null,
"cdna_length": 1792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Gly129Glu",
"transcript": "XM_006720461.5",
"protein_id": "XP_006720524.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 458,
"cds_start": 386,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 462,
"cdna_end": null,
"cdna_length": 2564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.353G>A",
"hgvs_p": "p.Gly118Glu",
"transcript": "XM_047432349.1",
"protein_id": "XP_047288305.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 447,
"cds_start": 353,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 576,
"cdna_end": null,
"cdna_length": 2678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Gly105Glu",
"transcript": "XM_024449892.2",
"protein_id": "XP_024305660.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 438,
"cds_start": 314,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 1888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Gly105Glu",
"transcript": "XM_047432350.1",
"protein_id": "XP_047288306.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 434,
"cds_start": 314,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 2778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Gly105Glu",
"transcript": "XM_024449894.2",
"protein_id": "XP_024305662.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 405,
"cds_start": 314,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 1789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Gly105Glu",
"transcript": "XM_047432353.1",
"protein_id": "XP_047288309.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 350,
"cds_start": 314,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 5138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Gly105Glu",
"transcript": "XM_047432354.1",
"protein_id": "XP_047288310.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 300,
"cds_start": 314,
"cds_end": null,
"cds_length": 903,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 1422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "n.*342G>A",
"hgvs_p": null,
"transcript": "ENST00000558775.5",
"protein_id": "ENSP00000453849.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "n.*225G>A",
"hgvs_p": null,
"transcript": "ENST00000558956.5",
"protein_id": "ENSP00000452679.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "n.*225G>A",
"hgvs_p": null,
"transcript": "ENST00000559208.5",
"protein_id": "ENSP00000453844.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "n.*225G>A",
"hgvs_p": null,
"transcript": "ENST00000559423.5",
"protein_id": "ENSP00000453652.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "n.*325G>A",
"hgvs_p": null,
"transcript": "ENST00000559883.5",
"protein_id": "ENSP00000453193.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "n.*325G>A",
"hgvs_p": null,
"transcript": "ENST00000559963.5",
"protein_id": "ENSP00000453457.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "n.*228G>A",
"hgvs_p": null,
"transcript": "ENST00000560119.5",
"protein_id": "ENSP00000453909.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "n.30G>A",
"hgvs_p": null,
"transcript": "ENST00000561014.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "n.462G>A",
"hgvs_p": null,
"transcript": "NR_147895.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.-2G>A",
"hgvs_p": null,
"transcript": "NM_001352047.1",
"protein_id": "NP_001338976.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 329,
"cds_start": -4,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.-2G>A",
"hgvs_p": null,
"transcript": "NM_001352048.2",
"protein_id": "NP_001338977.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 329,
"cds_start": -4,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.-2G>A",
"hgvs_p": null,
"transcript": "XM_047432351.1",
"protein_id": "XP_047288307.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 372,
"cds_start": -4,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.-2G>A",
"hgvs_p": null,
"transcript": "XM_047432352.1",
"protein_id": "XP_047288308.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 372,
"cds_start": -4,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "n.*342G>A",
"hgvs_p": null,
"transcript": "ENST00000558775.5",
"protein_id": "ENSP00000453849.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "n.*225G>A",
"hgvs_p": null,
"transcript": "ENST00000558956.5",
"protein_id": "ENSP00000452679.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "n.*225G>A",
"hgvs_p": null,
"transcript": "ENST00000559208.5",
"protein_id": "ENSP00000453844.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "n.*225G>A",
"hgvs_p": null,
"transcript": "ENST00000559423.5",
"protein_id": "ENSP00000453652.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "n.*325G>A",
"hgvs_p": null,
"transcript": "ENST00000559883.5",
"protein_id": "ENSP00000453193.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "n.*325G>A",
"hgvs_p": null,
"transcript": "ENST00000559963.5",
"protein_id": "ENSP00000453457.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "n.*228G>A",
"hgvs_p": null,
"transcript": "ENST00000560119.5",
"protein_id": "ENSP00000453909.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000305168",
"gene_hgnc_id": null,
"hgvs_c": "n.97-7640C>T",
"hgvs_p": null,
"transcript": "ENST00000809299.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"dbsnp": "rs1241195039",
"frequency_reference_population": 0.0000024784038,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 6.84095e-7,
"gnomad_genomes_af": 0.0000197166,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9163915514945984,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.935,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8564,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.44,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.053,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002044.4",
"gene_symbol": "GALK2",
"hgnc_id": 4119,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Gly129Glu"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000809299.1",
"gene_symbol": "ENSG00000305168",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.97-7640C>T",
"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
}