← 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: 10-59653791-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=59653791&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 59653791,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_194298.3",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.1235G>T",
"hgvs_p": "p.Trp412Leu",
"transcript": "NM_194298.3",
"protein_id": "NP_919274.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 509,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000395348.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_194298.3"
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.1235G>T",
"hgvs_p": "p.Trp412Leu",
"transcript": "ENST00000395348.8",
"protein_id": "ENSP00000378757.3",
"transcript_support_level": 5,
"aa_start": 412,
"aa_end": null,
"aa_length": 509,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_194298.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395348.8"
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.1235G>T",
"hgvs_p": "p.Trp412Leu",
"transcript": "ENST00000881710.1",
"protein_id": "ENSP00000551769.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 551,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881710.1"
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.1235G>T",
"hgvs_p": "p.Trp412Leu",
"transcript": "ENST00000881715.1",
"protein_id": "ENSP00000551774.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 551,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881715.1"
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.1235G>T",
"hgvs_p": "p.Trp412Leu",
"transcript": "NM_001323981.2",
"protein_id": "NP_001310910.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 509,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323981.2"
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.1235G>T",
"hgvs_p": "p.Trp412Leu",
"transcript": "ENST00000395347.1",
"protein_id": "ENSP00000378756.1",
"transcript_support_level": 2,
"aa_start": 412,
"aa_end": null,
"aa_length": 509,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395347.1"
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.1235G>T",
"hgvs_p": "p.Trp412Leu",
"transcript": "ENST00000881708.1",
"protein_id": "ENSP00000551767.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 509,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881708.1"
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.1235G>T",
"hgvs_p": "p.Trp412Leu",
"transcript": "ENST00000881719.1",
"protein_id": "ENSP00000551778.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 509,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881719.1"
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.1235G>T",
"hgvs_p": "p.Trp412Leu",
"transcript": "ENST00000936199.1",
"protein_id": "ENSP00000606258.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 509,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936199.1"
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.1235G>T",
"hgvs_p": "p.Trp412Leu",
"transcript": "ENST00000947928.1",
"protein_id": "ENSP00000617987.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 509,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947928.1"
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.1064G>T",
"hgvs_p": "p.Trp355Leu",
"transcript": "ENST00000881718.1",
"protein_id": "ENSP00000551777.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 494,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881718.1"
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.1064G>T",
"hgvs_p": "p.Trp355Leu",
"transcript": "ENST00000947927.1",
"protein_id": "ENSP00000617986.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 494,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947927.1"
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.1139G>T",
"hgvs_p": "p.Trp380Leu",
"transcript": "ENST00000881713.1",
"protein_id": "ENSP00000551772.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 477,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881713.1"
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.1091G>T",
"hgvs_p": "p.Trp364Leu",
"transcript": "ENST00000881714.1",
"protein_id": "ENSP00000551773.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 461,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881714.1"
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.974G>T",
"hgvs_p": "p.Trp325Leu",
"transcript": "NM_001323977.1",
"protein_id": "NP_001310906.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 422,
"cds_start": 974,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323977.1"
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.974G>T",
"hgvs_p": "p.Trp325Leu",
"transcript": "NM_001323978.2",
"protein_id": "NP_001310907.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 422,
"cds_start": 974,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323978.2"
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.974G>T",
"hgvs_p": "p.Trp325Leu",
"transcript": "NM_001323979.2",
"protein_id": "NP_001310908.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 422,
"cds_start": 974,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323979.2"
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.974G>T",
"hgvs_p": "p.Trp325Leu",
"transcript": "NM_001323980.2",
"protein_id": "NP_001310909.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 422,
"cds_start": 974,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323980.2"
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.920G>T",
"hgvs_p": "p.Trp307Leu",
"transcript": "ENST00000947929.1",
"protein_id": "ENSP00000617988.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 404,
"cds_start": 920,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947929.1"
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.455G>T",
"hgvs_p": "p.Trp152Leu",
"transcript": "ENST00000881711.1",
"protein_id": "ENSP00000551770.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 249,
"cds_start": 455,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881711.1"
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.455G>T",
"hgvs_p": "p.Trp152Leu",
"transcript": "ENST00000881712.1",
"protein_id": "ENSP00000551771.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 249,
"cds_start": 455,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881712.1"
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.455G>T",
"hgvs_p": "p.Trp152Leu",
"transcript": "ENST00000947930.1",
"protein_id": "ENSP00000617989.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 249,
"cds_start": 455,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947930.1"
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.455G>T",
"hgvs_p": "p.Trp152Leu",
"transcript": "ENST00000947931.1",
"protein_id": "ENSP00000617990.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 249,
"cds_start": 455,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947931.1"
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.311G>T",
"hgvs_p": "p.Trp104Leu",
"transcript": "ENST00000881717.1",
"protein_id": "ENSP00000551776.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 201,
"cds_start": 311,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881717.1"
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.1235G>T",
"hgvs_p": "p.Trp412Leu",
"transcript": "XM_017015883.2",
"protein_id": "XP_016871372.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 551,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015883.2"
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.1235G>T",
"hgvs_p": "p.Trp412Leu",
"transcript": "XM_047424753.1",
"protein_id": "XP_047280709.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 551,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424753.1"
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.1235G>T",
"hgvs_p": "p.Trp412Leu",
"transcript": "XM_047424754.1",
"protein_id": "XP_047280710.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 551,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424754.1"
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.1235G>T",
"hgvs_p": "p.Trp412Leu",
"transcript": "XM_047424755.1",
"protein_id": "XP_047280711.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 551,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424755.1"
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.1235G>T",
"hgvs_p": "p.Trp412Leu",
"transcript": "XM_047424756.1",
"protein_id": "XP_047280712.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 551,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424756.1"
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.1235G>T",
"hgvs_p": "p.Trp412Leu",
"transcript": "XM_017015884.3",
"protein_id": "XP_016871373.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 509,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015884.3"
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.1235G>T",
"hgvs_p": "p.Trp412Leu",
"transcript": "XM_024447878.2",
"protein_id": "XP_024303646.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 509,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447878.2"
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.1235G>T",
"hgvs_p": "p.Trp412Leu",
"transcript": "XM_047424757.1",
"protein_id": "XP_047280713.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 509,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424757.1"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.437-841G>T",
"hgvs_p": null,
"transcript": "ENST00000881709.1",
"protein_id": "ENSP00000551768.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 204,
"cds_start": null,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881709.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.341-841G>T",
"hgvs_p": null,
"transcript": "ENST00000881716.1",
"protein_id": "ENSP00000551775.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 172,
"cds_start": null,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881716.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.293-841G>T",
"hgvs_p": null,
"transcript": "ENST00000936198.1",
"protein_id": "ENSP00000606257.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 156,
"cds_start": null,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936198.1"
}
],
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"dbsnp": "rs754998000",
"frequency_reference_population": 0.00004213396,
"hom_count_reference_population": 0,
"allele_count_reference_population": 68,
"gnomad_exomes_af": 0.0000437798,
"gnomad_genomes_af": 0.0000263089,
"gnomad_exomes_ac": 64,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8498690128326416,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.749,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.89,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.23,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.568,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_194298.3",
"gene_symbol": "SLC16A9",
"hgnc_id": 23520,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1235G>T",
"hgvs_p": "p.Trp412Leu"
}
],
"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
}