← 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: 12-56475067-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=56475067&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 56475067,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_013267.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.973G>A",
"hgvs_p": "p.Gly325Ser",
"transcript": "NM_013267.4",
"protein_id": "NP_037399.2",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 602,
"cds_start": 973,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000311966.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013267.4"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.973G>A",
"hgvs_p": "p.Gly325Ser",
"transcript": "ENST00000311966.9",
"protein_id": "ENSP00000310447.4",
"transcript_support_level": 1,
"aa_start": 325,
"aa_end": null,
"aa_length": 602,
"cds_start": 973,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013267.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311966.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPRYD4",
"gene_hgnc_id": 27468,
"hgvs_c": "c.*5490C>T",
"hgvs_p": null,
"transcript": "NM_207344.4",
"protein_id": "NP_997227.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 207,
"cds_start": null,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000338146.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_207344.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPRYD4",
"gene_hgnc_id": 27468,
"hgvs_c": "c.*5490C>T",
"hgvs_p": null,
"transcript": "ENST00000338146.7",
"protein_id": "ENSP00000338034.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 207,
"cds_start": null,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_207344.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338146.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "n.*309G>A",
"hgvs_p": null,
"transcript": "ENST00000424141.6",
"protein_id": "ENSP00000416282.2",
"transcript_support_level": 1,
"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": "ENST00000424141.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "n.*62G>A",
"hgvs_p": null,
"transcript": "ENST00000486433.5",
"protein_id": "ENSP00000420328.1",
"transcript_support_level": 1,
"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": "ENST00000486433.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "n.*309G>A",
"hgvs_p": null,
"transcript": "ENST00000424141.6",
"protein_id": "ENSP00000416282.2",
"transcript_support_level": 1,
"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": "ENST00000424141.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "n.*62G>A",
"hgvs_p": null,
"transcript": "ENST00000486433.5",
"protein_id": "ENSP00000420328.1",
"transcript_support_level": 1,
"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": "ENST00000486433.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285528",
"gene_hgnc_id": null,
"hgvs_c": "n.182+12870G>A",
"hgvs_p": null,
"transcript": "ENST00000648304.1",
"protein_id": "ENSP00000497190.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000648304.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.1114G>A",
"hgvs_p": "p.Gly372Ser",
"transcript": "ENST00000873347.1",
"protein_id": "ENSP00000543406.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 649,
"cds_start": 1114,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873347.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.1060G>A",
"hgvs_p": "p.Gly354Ser",
"transcript": "ENST00000873342.1",
"protein_id": "ENSP00000543401.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 631,
"cds_start": 1060,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873342.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.1003G>A",
"hgvs_p": "p.Gly335Ser",
"transcript": "ENST00000873336.1",
"protein_id": "ENSP00000543395.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 612,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873336.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.997G>A",
"hgvs_p": "p.Gly333Ser",
"transcript": "ENST00000873339.1",
"protein_id": "ENSP00000543398.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 610,
"cds_start": 997,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873339.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.973G>A",
"hgvs_p": "p.Gly325Ser",
"transcript": "ENST00000873348.1",
"protein_id": "ENSP00000543407.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 609,
"cds_start": 973,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873348.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.973G>A",
"hgvs_p": "p.Gly325Ser",
"transcript": "ENST00000873343.1",
"protein_id": "ENSP00000543402.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 601,
"cds_start": 973,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873343.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.973G>A",
"hgvs_p": "p.Gly325Ser",
"transcript": "ENST00000873346.1",
"protein_id": "ENSP00000543405.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 598,
"cds_start": 973,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873346.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.940G>A",
"hgvs_p": "p.Gly314Ser",
"transcript": "ENST00000873337.1",
"protein_id": "ENSP00000543396.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 591,
"cds_start": 940,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873337.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.973G>A",
"hgvs_p": "p.Gly325Ser",
"transcript": "ENST00000873341.1",
"protein_id": "ENSP00000543400.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 585,
"cds_start": 973,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873341.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.895G>A",
"hgvs_p": "p.Gly299Ser",
"transcript": "ENST00000873349.1",
"protein_id": "ENSP00000543408.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 576,
"cds_start": 895,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873349.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.757G>A",
"hgvs_p": "p.Gly253Ser",
"transcript": "ENST00000873351.1",
"protein_id": "ENSP00000543410.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 530,
"cds_start": 757,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873351.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.751G>A",
"hgvs_p": "p.Gly251Ser",
"transcript": "ENST00000873344.1",
"protein_id": "ENSP00000543403.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 528,
"cds_start": 751,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873344.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.718G>A",
"hgvs_p": "p.Gly240Ser",
"transcript": "ENST00000873353.1",
"protein_id": "ENSP00000543412.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 517,
"cds_start": 718,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873353.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.670G>A",
"hgvs_p": "p.Gly224Ser",
"transcript": "ENST00000873340.1",
"protein_id": "ENSP00000543399.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 501,
"cds_start": 670,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873340.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Gly213Ser",
"transcript": "ENST00000873338.1",
"protein_id": "ENSP00000543397.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 490,
"cds_start": 637,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873338.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.613G>A",
"hgvs_p": "p.Gly205Ser",
"transcript": "ENST00000873345.1",
"protein_id": "ENSP00000543404.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 482,
"cds_start": 613,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873345.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.580G>A",
"hgvs_p": "p.Gly194Ser",
"transcript": "ENST00000873352.1",
"protein_id": "ENSP00000543411.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 471,
"cds_start": 580,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873352.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.358G>A",
"hgvs_p": "p.Gly120Ser",
"transcript": "ENST00000873350.1",
"protein_id": "ENSP00000543409.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 397,
"cds_start": 358,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873350.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Gly60Ser",
"transcript": "NM_001280797.2",
"protein_id": "NP_001267726.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 337,
"cds_start": 178,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001280797.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Gly60Ser",
"transcript": "NM_001280798.2",
"protein_id": "NP_001267727.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 337,
"cds_start": 178,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001280798.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"transcript": "NM_001280796.2",
"protein_id": "NP_001267725.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 326,
"cds_start": 145,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001280796.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.865G>A",
"hgvs_p": "p.Gly289Ser",
"transcript": "XM_005268797.1",
"protein_id": "XP_005268854.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 566,
"cds_start": 865,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005268797.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.540G>A",
"hgvs_p": "p.Ser180Ser",
"transcript": "ENST00000461077.1",
"protein_id": "ENSP00000417244.1",
"transcript_support_level": 4,
"aa_start": 180,
"aa_end": null,
"aa_length": 183,
"cds_start": 540,
"cds_end": null,
"cds_length": 553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000461077.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "n.210G>A",
"hgvs_p": null,
"transcript": "ENST00000476991.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000476991.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "n.*644G>A",
"hgvs_p": null,
"transcript": "ENST00000486896.5",
"protein_id": "ENSP00000419661.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000486896.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "n.*309G>A",
"hgvs_p": null,
"transcript": "ENST00000494474.6",
"protein_id": "ENSP00000419996.1",
"transcript_support_level": 4,
"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": "ENST00000494474.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "n.177G>A",
"hgvs_p": null,
"transcript": "ENST00000496006.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000496006.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "n.*644G>A",
"hgvs_p": null,
"transcript": "ENST00000486896.5",
"protein_id": "ENSP00000419661.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000486896.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "n.*309G>A",
"hgvs_p": null,
"transcript": "ENST00000494474.6",
"protein_id": "ENSP00000419996.1",
"transcript_support_level": 4,
"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": "ENST00000494474.6"
},
{
"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": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "n.464-171G>A",
"hgvs_p": null,
"transcript": "ENST00000479952.5",
"protein_id": "ENSP00000417796.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000479952.5"
}
],
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"dbsnp": "rs141411550",
"frequency_reference_population": 0.000041511463,
"hom_count_reference_population": 0,
"allele_count_reference_population": 67,
"gnomad_exomes_af": 0.0000376229,
"gnomad_genomes_af": 0.0000788768,
"gnomad_exomes_ac": 55,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.46942147612571716,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.204,
"revel_prediction": "Benign",
"alphamissense_score": 0.6178,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.844,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.03,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_013267.4",
"gene_symbol": "GLS2",
"hgnc_id": 29570,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.973G>A",
"hgvs_p": "p.Gly325Ser"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_207344.4",
"gene_symbol": "SPRYD4",
"hgnc_id": 27468,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*5490C>T",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000648304.1",
"gene_symbol": "ENSG00000285528",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.182+12870G>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
}