← 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: 16-67947993-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=67947993&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 67947993,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001145962.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "SLC12A4",
"gene_hgnc_id": 10913,
"hgvs_c": "c.1847+68T>G",
"hgvs_p": null,
"transcript": "NM_005072.5",
"protein_id": "NP_005063.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1085,
"cds_start": null,
"cds_end": null,
"cds_length": 3258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000316341.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005072.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "SLC12A4",
"gene_hgnc_id": 10913,
"hgvs_c": "c.1847+68T>G",
"hgvs_p": null,
"transcript": "ENST00000316341.8",
"protein_id": "ENSP00000318557.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1085,
"cds_start": null,
"cds_end": null,
"cds_length": 3258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005072.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000316341.8"
},
{
"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": 22,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "SLC12A4",
"gene_hgnc_id": 10913,
"hgvs_c": "n.2004+68T>G",
"hgvs_p": null,
"transcript": "ENST00000572010.6",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000572010.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "SLC12A4",
"gene_hgnc_id": 10913,
"hgvs_c": "c.1847+68T>G",
"hgvs_p": null,
"transcript": "ENST00000964383.1",
"protein_id": "ENSP00000634442.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1114,
"cds_start": null,
"cds_end": null,
"cds_length": 3345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964383.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "SLC12A4",
"gene_hgnc_id": 10913,
"hgvs_c": "c.1847+68T>G",
"hgvs_p": null,
"transcript": "ENST00000964379.1",
"protein_id": "ENSP00000634438.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1093,
"cds_start": null,
"cds_end": null,
"cds_length": 3282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964379.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "SLC12A4",
"gene_hgnc_id": 10913,
"hgvs_c": "c.1868+68T>G",
"hgvs_p": null,
"transcript": "ENST00000858398.1",
"protein_id": "ENSP00000528457.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1092,
"cds_start": null,
"cds_end": null,
"cds_length": 3279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858398.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "SLC12A4",
"gene_hgnc_id": 10913,
"hgvs_c": "c.1853+68T>G",
"hgvs_p": null,
"transcript": "NM_001145962.1",
"protein_id": "NP_001139434.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1087,
"cds_start": null,
"cds_end": null,
"cds_length": 3264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145962.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "SLC12A4",
"gene_hgnc_id": 10913,
"hgvs_c": "c.1835+68T>G",
"hgvs_p": null,
"transcript": "ENST00000937904.1",
"protein_id": "ENSP00000607963.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1081,
"cds_start": null,
"cds_end": null,
"cds_length": 3246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937904.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "SLC12A4",
"gene_hgnc_id": 10913,
"hgvs_c": "c.1847+68T>G",
"hgvs_p": null,
"transcript": "NM_001145961.2",
"protein_id": "NP_001139433.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1079,
"cds_start": null,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145961.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "SLC12A4",
"gene_hgnc_id": 10913,
"hgvs_c": "c.1829+68T>G",
"hgvs_p": null,
"transcript": "NM_001145963.2",
"protein_id": "NP_001139435.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1079,
"cds_start": null,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145963.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "SLC12A4",
"gene_hgnc_id": 10913,
"hgvs_c": "c.1829+68T>G",
"hgvs_p": null,
"transcript": "ENST00000537830.6",
"protein_id": "ENSP00000445962.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1079,
"cds_start": null,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537830.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "SLC12A4",
"gene_hgnc_id": 10913,
"hgvs_c": "c.1847+68T>G",
"hgvs_p": null,
"transcript": "ENST00000858394.1",
"protein_id": "ENSP00000528453.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1079,
"cds_start": null,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858394.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "SLC12A4",
"gene_hgnc_id": 10913,
"hgvs_c": "c.1847+68T>G",
"hgvs_p": null,
"transcript": "ENST00000576616.5",
"protein_id": "ENSP00000458902.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1068,
"cds_start": null,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000576616.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "SLC12A4",
"gene_hgnc_id": 10913,
"hgvs_c": "c.1847+68T>G",
"hgvs_p": null,
"transcript": "ENST00000964381.1",
"protein_id": "ENSP00000634440.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1062,
"cds_start": null,
"cds_end": null,
"cds_length": 3189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964381.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "SLC12A4",
"gene_hgnc_id": 10913,
"hgvs_c": "c.1754+68T>G",
"hgvs_p": null,
"transcript": "NM_001145964.2",
"protein_id": "NP_001139436.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1054,
"cds_start": null,
"cds_end": null,
"cds_length": 3165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145964.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "SLC12A4",
"gene_hgnc_id": 10913,
"hgvs_c": "c.1754+68T>G",
"hgvs_p": null,
"transcript": "ENST00000541864.7",
"protein_id": "ENSP00000438334.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1054,
"cds_start": null,
"cds_end": null,
"cds_length": 3165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541864.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "SLC12A4",
"gene_hgnc_id": 10913,
"hgvs_c": "c.1748+68T>G",
"hgvs_p": null,
"transcript": "ENST00000858396.1",
"protein_id": "ENSP00000528455.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1052,
"cds_start": null,
"cds_end": null,
"cds_length": 3159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858396.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "SLC12A4",
"gene_hgnc_id": 10913,
"hgvs_c": "c.1742+68T>G",
"hgvs_p": null,
"transcript": "ENST00000858399.1",
"protein_id": "ENSP00000528458.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1050,
"cds_start": null,
"cds_end": null,
"cds_length": 3153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858399.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "SLC12A4",
"gene_hgnc_id": 10913,
"hgvs_c": "c.1730+68T>G",
"hgvs_p": null,
"transcript": "ENST00000937903.1",
"protein_id": "ENSP00000607962.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1046,
"cds_start": null,
"cds_end": null,
"cds_length": 3141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937903.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "SLC12A4",
"gene_hgnc_id": 10913,
"hgvs_c": "c.1721+68T>G",
"hgvs_p": null,
"transcript": "ENST00000964384.1",
"protein_id": "ENSP00000634443.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1043,
"cds_start": null,
"cds_end": null,
"cds_length": 3132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964384.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SLC12A4",
"gene_hgnc_id": 10913,
"hgvs_c": "c.1514+68T>G",
"hgvs_p": null,
"transcript": "ENST00000858395.1",
"protein_id": "ENSP00000528454.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 974,
"cds_start": null,
"cds_end": null,
"cds_length": 2925,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858395.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SLC12A4",
"gene_hgnc_id": 10913,
"hgvs_c": "c.1418+68T>G",
"hgvs_p": null,
"transcript": "ENST00000964382.1",
"protein_id": "ENSP00000634441.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 942,
"cds_start": null,
"cds_end": null,
"cds_length": 2829,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964382.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SLC12A4",
"gene_hgnc_id": 10913,
"hgvs_c": "c.1382+68T>G",
"hgvs_p": null,
"transcript": "ENST00000858397.1",
"protein_id": "ENSP00000528456.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 930,
"cds_start": null,
"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": "ENST00000858397.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "SLC12A4",
"gene_hgnc_id": 10913,
"hgvs_c": "c.1703-1472T>G",
"hgvs_p": null,
"transcript": "ENST00000937905.1",
"protein_id": "ENSP00000607964.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 868,
"cds_start": null,
"cds_end": null,
"cds_length": 2607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937905.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SLC12A4",
"gene_hgnc_id": 10913,
"hgvs_c": "c.1396+2969T>G",
"hgvs_p": null,
"transcript": "ENST00000964380.1",
"protein_id": "ENSP00000634439.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 495,
"cds_start": null,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964380.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "SLC12A4",
"gene_hgnc_id": 10913,
"hgvs_c": "n.1847+68T>G",
"hgvs_p": null,
"transcript": "ENST00000570802.5",
"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": "ENST00000570802.5"
},
{
"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": 23,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "SLC12A4",
"gene_hgnc_id": 10913,
"hgvs_c": "n.*1548+68T>G",
"hgvs_p": null,
"transcript": "ENST00000572037.5",
"protein_id": "ENSP00000461403.2",
"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": "ENST00000572037.5"
},
{
"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": 16,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "SLC12A4",
"gene_hgnc_id": 10913,
"hgvs_c": "n.3419+68T>G",
"hgvs_p": null,
"transcript": "ENST00000573023.6",
"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": "ENST00000573023.6"
},
{
"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": 19,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SLC12A4",
"gene_hgnc_id": 10913,
"hgvs_c": "n.*1122+68T>G",
"hgvs_p": null,
"transcript": "ENST00000576377.2",
"protein_id": "ENSP00000458975.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000576377.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A4",
"gene_hgnc_id": 10913,
"hgvs_c": "n.*68T>G",
"hgvs_p": null,
"transcript": "ENST00000576513.2",
"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": "ENST00000576513.2"
}
],
"gene_symbol": "SLC12A4",
"gene_hgnc_id": 10913,
"dbsnp": "rs7200210",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8399999737739563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.268,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -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_001145962.1",
"gene_symbol": "SLC12A4",
"hgnc_id": 10913,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1853+68T>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}