← 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: 3-46676294-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=46676294&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 46676294,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_147129.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2CL",
"gene_hgnc_id": 20605,
"hgvs_c": "c.2137G>A",
"hgvs_p": "p.Ala713Thr",
"transcript": "NM_147129.5",
"protein_id": "NP_667340.2",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 953,
"cds_start": 2137,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000318962.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_147129.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2CL",
"gene_hgnc_id": 20605,
"hgvs_c": "c.2137G>A",
"hgvs_p": "p.Ala713Thr",
"transcript": "ENST00000318962.9",
"protein_id": "ENSP00000313670.4",
"transcript_support_level": 1,
"aa_start": 713,
"aa_end": null,
"aa_length": 953,
"cds_start": 2137,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_147129.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318962.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2CL",
"gene_hgnc_id": 20605,
"hgvs_c": "n.*525G>A",
"hgvs_p": null,
"transcript": "ENST00000434140.5",
"protein_id": "ENSP00000405335.1",
"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": "ENST00000434140.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2CL",
"gene_hgnc_id": 20605,
"hgvs_c": "n.*525G>A",
"hgvs_p": null,
"transcript": "ENST00000434140.5",
"protein_id": "ENSP00000405335.1",
"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": "ENST00000434140.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2CL",
"gene_hgnc_id": 20605,
"hgvs_c": "c.2188G>A",
"hgvs_p": "p.Ala730Thr",
"transcript": "ENST00000950707.1",
"protein_id": "ENSP00000620766.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 981,
"cds_start": 2188,
"cds_end": null,
"cds_length": 2946,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950707.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2CL",
"gene_hgnc_id": 20605,
"hgvs_c": "c.2188G>A",
"hgvs_p": "p.Ala730Thr",
"transcript": "ENST00000860447.1",
"protein_id": "ENSP00000530506.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 970,
"cds_start": 2188,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860447.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2CL",
"gene_hgnc_id": 20605,
"hgvs_c": "c.2188G>A",
"hgvs_p": "p.Ala730Thr",
"transcript": "ENST00000950702.1",
"protein_id": "ENSP00000620761.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 970,
"cds_start": 2188,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950702.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2CL",
"gene_hgnc_id": 20605,
"hgvs_c": "c.2188G>A",
"hgvs_p": "p.Ala730Thr",
"transcript": "ENST00000950703.1",
"protein_id": "ENSP00000620762.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 970,
"cds_start": 2188,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950703.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2CL",
"gene_hgnc_id": 20605,
"hgvs_c": "c.2188G>A",
"hgvs_p": "p.Ala730Thr",
"transcript": "ENST00000950705.1",
"protein_id": "ENSP00000620764.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 970,
"cds_start": 2188,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950705.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2CL",
"gene_hgnc_id": 20605,
"hgvs_c": "c.2188G>A",
"hgvs_p": "p.Ala730Thr",
"transcript": "ENST00000950712.1",
"protein_id": "ENSP00000620771.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 970,
"cds_start": 2188,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950712.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2CL",
"gene_hgnc_id": 20605,
"hgvs_c": "c.2173G>A",
"hgvs_p": "p.Ala725Thr",
"transcript": "ENST00000950706.1",
"protein_id": "ENSP00000620765.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 965,
"cds_start": 2173,
"cds_end": null,
"cds_length": 2898,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950706.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2CL",
"gene_hgnc_id": 20605,
"hgvs_c": "c.2161G>A",
"hgvs_p": "p.Ala721Thr",
"transcript": "ENST00000950708.1",
"protein_id": "ENSP00000620767.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 961,
"cds_start": 2161,
"cds_end": null,
"cds_length": 2886,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950708.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2CL",
"gene_hgnc_id": 20605,
"hgvs_c": "c.2137G>A",
"hgvs_p": "p.Ala713Thr",
"transcript": "NM_001190707.2",
"protein_id": "NP_001177636.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 953,
"cds_start": 2137,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001190707.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2CL",
"gene_hgnc_id": 20605,
"hgvs_c": "c.2137G>A",
"hgvs_p": "p.Ala713Thr",
"transcript": "ENST00000415953.5",
"protein_id": "ENSP00000413223.1",
"transcript_support_level": 2,
"aa_start": 713,
"aa_end": null,
"aa_length": 953,
"cds_start": 2137,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415953.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2CL",
"gene_hgnc_id": 20605,
"hgvs_c": "c.2137G>A",
"hgvs_p": "p.Ala713Thr",
"transcript": "ENST00000860443.1",
"protein_id": "ENSP00000530502.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 953,
"cds_start": 2137,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860443.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2CL",
"gene_hgnc_id": 20605,
"hgvs_c": "c.2137G>A",
"hgvs_p": "p.Ala713Thr",
"transcript": "ENST00000860444.1",
"protein_id": "ENSP00000530503.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 953,
"cds_start": 2137,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860444.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2CL",
"gene_hgnc_id": 20605,
"hgvs_c": "c.2137G>A",
"hgvs_p": "p.Ala713Thr",
"transcript": "ENST00000860445.1",
"protein_id": "ENSP00000530504.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 953,
"cds_start": 2137,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860445.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2CL",
"gene_hgnc_id": 20605,
"hgvs_c": "c.2137G>A",
"hgvs_p": "p.Ala713Thr",
"transcript": "ENST00000860450.1",
"protein_id": "ENSP00000530509.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 953,
"cds_start": 2137,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860450.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2CL",
"gene_hgnc_id": 20605,
"hgvs_c": "c.2137G>A",
"hgvs_p": "p.Ala713Thr",
"transcript": "ENST00000860452.1",
"protein_id": "ENSP00000530511.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 953,
"cds_start": 2137,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860452.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2CL",
"gene_hgnc_id": 20605,
"hgvs_c": "c.2137G>A",
"hgvs_p": "p.Ala713Thr",
"transcript": "ENST00000950701.1",
"protein_id": "ENSP00000620760.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 953,
"cds_start": 2137,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950701.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2CL",
"gene_hgnc_id": 20605,
"hgvs_c": "c.2137G>A",
"hgvs_p": "p.Ala713Thr",
"transcript": "ENST00000950704.1",
"protein_id": "ENSP00000620763.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 953,
"cds_start": 2137,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950704.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2CL",
"gene_hgnc_id": 20605,
"hgvs_c": "c.2137G>A",
"hgvs_p": "p.Ala713Thr",
"transcript": "ENST00000950709.1",
"protein_id": "ENSP00000620768.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 953,
"cds_start": 2137,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950709.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2CL",
"gene_hgnc_id": 20605,
"hgvs_c": "c.2137G>A",
"hgvs_p": "p.Ala713Thr",
"transcript": "ENST00000950710.1",
"protein_id": "ENSP00000620769.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 953,
"cds_start": 2137,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950710.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2CL",
"gene_hgnc_id": 20605,
"hgvs_c": "c.2074G>A",
"hgvs_p": "p.Ala692Thr",
"transcript": "ENST00000950711.1",
"protein_id": "ENSP00000620770.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 932,
"cds_start": 2074,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950711.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2CL",
"gene_hgnc_id": 20605,
"hgvs_c": "c.2137G>A",
"hgvs_p": "p.Ala713Thr",
"transcript": "ENST00000917202.1",
"protein_id": "ENSP00000587261.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 930,
"cds_start": 2137,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917202.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2CL",
"gene_hgnc_id": 20605,
"hgvs_c": "c.2059G>A",
"hgvs_p": "p.Ala687Thr",
"transcript": "ENST00000860449.1",
"protein_id": "ENSP00000530508.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 927,
"cds_start": 2059,
"cds_end": null,
"cds_length": 2784,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860449.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2CL",
"gene_hgnc_id": 20605,
"hgvs_c": "c.2017G>A",
"hgvs_p": "p.Ala673Thr",
"transcript": "ENST00000860446.1",
"protein_id": "ENSP00000530505.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 913,
"cds_start": 2017,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860446.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2CL",
"gene_hgnc_id": 20605,
"hgvs_c": "c.2017G>A",
"hgvs_p": "p.Ala673Thr",
"transcript": "ENST00000860448.1",
"protein_id": "ENSP00000530507.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 913,
"cds_start": 2017,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860448.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2CL",
"gene_hgnc_id": 20605,
"hgvs_c": "c.1915G>A",
"hgvs_p": "p.Ala639Thr",
"transcript": "ENST00000860451.1",
"protein_id": "ENSP00000530510.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 879,
"cds_start": 1915,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860451.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2CL",
"gene_hgnc_id": 20605,
"hgvs_c": "n.610G>A",
"hgvs_p": null,
"transcript": "ENST00000383742.7",
"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": "ENST00000383742.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2CL",
"gene_hgnc_id": 20605,
"hgvs_c": "n.*1017G>A",
"hgvs_p": null,
"transcript": "ENST00000423707.5",
"protein_id": "ENSP00000395749.1",
"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": "ENST00000423707.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2CL",
"gene_hgnc_id": 20605,
"hgvs_c": "n.4017G>A",
"hgvs_p": null,
"transcript": "ENST00000431015.5",
"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": "retained_intron",
"feature": "ENST00000431015.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2CL",
"gene_hgnc_id": 20605,
"hgvs_c": "n.4047G>A",
"hgvs_p": null,
"transcript": "ENST00000450172.5",
"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": "retained_intron",
"feature": "ENST00000450172.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2CL",
"gene_hgnc_id": 20605,
"hgvs_c": "n.551G>A",
"hgvs_p": null,
"transcript": "ENST00000486301.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000486301.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2CL",
"gene_hgnc_id": 20605,
"hgvs_c": "n.2195G>A",
"hgvs_p": null,
"transcript": "NR_033815.3",
"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_033815.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2CL",
"gene_hgnc_id": 20605,
"hgvs_c": "n.2195G>A",
"hgvs_p": null,
"transcript": "NR_135622.2",
"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_135622.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2CL",
"gene_hgnc_id": 20605,
"hgvs_c": "n.*1017G>A",
"hgvs_p": null,
"transcript": "ENST00000423707.5",
"protein_id": "ENSP00000395749.1",
"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": "ENST00000423707.5"
}
],
"gene_symbol": "ALS2CL",
"gene_hgnc_id": 20605,
"dbsnp": "rs189714038",
"frequency_reference_population": 0.000025407102,
"hom_count_reference_population": 0,
"allele_count_reference_population": 41,
"gnomad_exomes_af": 0.0000212109,
"gnomad_genomes_af": 0.0000656987,
"gnomad_exomes_ac": 31,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.273232102394104,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.244,
"revel_prediction": "Benign",
"alphamissense_score": 0.5894,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.638,
"phylop100way_prediction": "Uncertain_significance",
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_147129.5",
"gene_symbol": "ALS2CL",
"hgnc_id": 20605,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2137G>A",
"hgvs_p": "p.Ala713Thr"
}
],
"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
}