← 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: 7-107791879-GA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=107791879&ref=GA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 107791879,
"ref": "GA",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "NM_000111.3",
"consequences": [
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.332delT",
"hgvs_p": "p.Phe111fs",
"transcript": "NM_000111.3",
"protein_id": "NP_000102.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 764,
"cds_start": 332,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000340010.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000111.3"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.332delT",
"hgvs_p": "p.Phe111fs",
"transcript": "ENST00000340010.10",
"protein_id": "ENSP00000345873.5",
"transcript_support_level": 1,
"aa_start": 111,
"aa_end": null,
"aa_length": 764,
"cds_start": 332,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000111.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340010.10"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.332delT",
"hgvs_p": "p.Phe111fs",
"transcript": "ENST00000852261.1",
"protein_id": "ENSP00000522320.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 771,
"cds_start": 332,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852261.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.332delT",
"hgvs_p": "p.Phe111fs",
"transcript": "ENST00000852262.1",
"protein_id": "ENSP00000522321.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 769,
"cds_start": 332,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852262.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.332delT",
"hgvs_p": "p.Phe111fs",
"transcript": "ENST00000852250.1",
"protein_id": "ENSP00000522309.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 764,
"cds_start": 332,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852250.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.332delT",
"hgvs_p": "p.Phe111fs",
"transcript": "ENST00000852251.1",
"protein_id": "ENSP00000522310.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 764,
"cds_start": 332,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852251.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.332delT",
"hgvs_p": "p.Phe111fs",
"transcript": "ENST00000852254.1",
"protein_id": "ENSP00000522313.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 764,
"cds_start": 332,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852254.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.332delT",
"hgvs_p": "p.Phe111fs",
"transcript": "ENST00000852257.1",
"protein_id": "ENSP00000522316.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 764,
"cds_start": 332,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852257.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.332delT",
"hgvs_p": "p.Phe111fs",
"transcript": "ENST00000852263.1",
"protein_id": "ENSP00000522322.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 764,
"cds_start": 332,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852263.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.332delT",
"hgvs_p": "p.Phe111fs",
"transcript": "ENST00000852270.1",
"protein_id": "ENSP00000522329.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 764,
"cds_start": 332,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852270.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.332delT",
"hgvs_p": "p.Phe111fs",
"transcript": "ENST00000852259.1",
"protein_id": "ENSP00000522318.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 763,
"cds_start": 332,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852259.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.326delT",
"hgvs_p": "p.Phe109fs",
"transcript": "ENST00000852264.1",
"protein_id": "ENSP00000522323.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 762,
"cds_start": 326,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852264.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.332delT",
"hgvs_p": "p.Phe111fs",
"transcript": "ENST00000852256.1",
"protein_id": "ENSP00000522315.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 758,
"cds_start": 332,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852256.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.332delT",
"hgvs_p": "p.Phe111fs",
"transcript": "ENST00000852267.1",
"protein_id": "ENSP00000522326.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 747,
"cds_start": 332,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852267.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.278delT",
"hgvs_p": "p.Phe93fs",
"transcript": "ENST00000852258.1",
"protein_id": "ENSP00000522317.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 746,
"cds_start": 278,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852258.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.332delT",
"hgvs_p": "p.Phe111fs",
"transcript": "ENST00000852269.1",
"protein_id": "ENSP00000522328.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 742,
"cds_start": 332,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852269.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.332delT",
"hgvs_p": "p.Phe111fs",
"transcript": "ENST00000852252.1",
"protein_id": "ENSP00000522311.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 732,
"cds_start": 332,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852252.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.332delT",
"hgvs_p": "p.Phe111fs",
"transcript": "ENST00000852265.1",
"protein_id": "ENSP00000522324.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 732,
"cds_start": 332,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852265.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.332delT",
"hgvs_p": "p.Phe111fs",
"transcript": "ENST00000852268.1",
"protein_id": "ENSP00000522327.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 726,
"cds_start": 332,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852268.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.332delT",
"hgvs_p": "p.Phe111fs",
"transcript": "ENST00000852255.1",
"protein_id": "ENSP00000522314.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 713,
"cds_start": 332,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852255.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.332delT",
"hgvs_p": "p.Phe111fs",
"transcript": "ENST00000852271.1",
"protein_id": "ENSP00000522330.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 709,
"cds_start": 332,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852271.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.332delT",
"hgvs_p": "p.Phe111fs",
"transcript": "ENST00000852260.1",
"protein_id": "ENSP00000522319.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 705,
"cds_start": 332,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852260.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.332delT",
"hgvs_p": "p.Phe111fs",
"transcript": "ENST00000852249.1",
"protein_id": "ENSP00000522308.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 686,
"cds_start": 332,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852249.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.332delT",
"hgvs_p": "p.Phe111fs",
"transcript": "ENST00000852266.1",
"protein_id": "ENSP00000522325.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 654,
"cds_start": 332,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852266.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.332delT",
"hgvs_p": "p.Phe111fs",
"transcript": "ENST00000453332.1",
"protein_id": "ENSP00000395955.1",
"transcript_support_level": 4,
"aa_start": 111,
"aa_end": null,
"aa_length": 119,
"cds_start": 332,
"cds_end": null,
"cds_length": 360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453332.1"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.272-645delT",
"hgvs_p": null,
"transcript": "ENST00000852253.1",
"protein_id": "ENSP00000522312.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 727,
"cds_start": null,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852253.1"
},
{
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "n.*123delT",
"hgvs_p": null,
"transcript": "ENST00000379083.7",
"protein_id": "ENSP00000368375.3",
"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": "ENST00000379083.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "n.*123delT",
"hgvs_p": null,
"transcript": "ENST00000379083.7",
"protein_id": "ENSP00000368375.3",
"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": "ENST00000379083.7"
}
],
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"dbsnp": "rs386833477",
"frequency_reference_population": 0.0000013685301,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136853,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 3.973,
"phylop100way_prediction": "Uncertain_significance",
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "NM_000111.3",
"gene_symbol": "SLC26A3",
"hgnc_id": 3018,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.332delT",
"hgvs_p": "p.Phe111fs"
}
],
"clinvar_disease": " chloride type,Congenital secretory diarrhea",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Congenital secretory diarrhea, chloride type",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}