← 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: 8-144359647-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144359647&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 144359647,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000643944.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ser52Cys",
"transcript": "NM_001363118.2",
"protein_id": "NP_001350047.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 445,
"cds_start": 155,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 718,
"cdna_end": null,
"cdna_length": 2158,
"mane_select": "ENST00000643944.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ser52Cys",
"transcript": "ENST00000643944.2",
"protein_id": "ENSP00000496184.2",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 445,
"cds_start": 155,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 718,
"cdna_end": null,
"cdna_length": 2158,
"mane_select": "NM_001363118.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ser52Cys",
"transcript": "ENST00000329994.7",
"protein_id": "ENSP00000333638.2",
"transcript_support_level": 1,
"aa_start": 52,
"aa_end": null,
"aa_length": 445,
"cds_start": 155,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 1910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.-110C>G",
"hgvs_p": null,
"transcript": "NM_001410949.1",
"protein_id": "NP_001397878.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 357,
"cds_start": -4,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.-110C>G",
"hgvs_p": null,
"transcript": "ENST00000526891.2",
"protein_id": "ENSP00000502670.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 357,
"cds_start": -4,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ser52Cys",
"transcript": "NM_001253815.2",
"protein_id": "NP_001240744.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 445,
"cds_start": 155,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 307,
"cdna_end": null,
"cdna_length": 1747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ser52Cys",
"transcript": "NM_001253816.2",
"protein_id": "NP_001240745.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 445,
"cds_start": 155,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 324,
"cdna_end": null,
"cdna_length": 1764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ser52Cys",
"transcript": "NM_001363120.2",
"protein_id": "NP_001350049.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 445,
"cds_start": 155,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 553,
"cdna_end": null,
"cdna_length": 1993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ser52Cys",
"transcript": "NM_001363121.2",
"protein_id": "NP_001350050.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 445,
"cds_start": 155,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 714,
"cdna_end": null,
"cdna_length": 2154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ser52Cys",
"transcript": "NM_001438495.1",
"protein_id": "NP_001425424.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 445,
"cds_start": 155,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 549,
"cdna_end": null,
"cdna_length": 1989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ser52Cys",
"transcript": "NM_001438496.1",
"protein_id": "NP_001425425.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 445,
"cds_start": 155,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 1748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ser52Cys",
"transcript": "NM_001438497.1",
"protein_id": "NP_001425426.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 445,
"cds_start": 155,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 432,
"cdna_end": null,
"cdna_length": 1872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ser52Cys",
"transcript": "NM_024531.5",
"protein_id": "NP_078807.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 445,
"cds_start": 155,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 436,
"cdna_end": null,
"cdna_length": 1876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ser52Cys",
"transcript": "ENST00000402965.5",
"protein_id": "ENSP00000385961.1",
"transcript_support_level": 2,
"aa_start": 52,
"aa_end": null,
"aa_length": 445,
"cds_start": 155,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 339,
"cdna_end": null,
"cdna_length": 1777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ser52Cys",
"transcript": "ENST00000527078.6",
"protein_id": "ENSP00000434728.1",
"transcript_support_level": 5,
"aa_start": 52,
"aa_end": null,
"aa_length": 445,
"cds_start": 155,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 2041,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ser52Cys",
"transcript": "ENST00000530047.5",
"protein_id": "ENSP00000435820.1",
"transcript_support_level": 2,
"aa_start": 52,
"aa_end": null,
"aa_length": 445,
"cds_start": 155,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 319,
"cdna_end": null,
"cdna_length": 1757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ser52Cys",
"transcript": "ENST00000532815.2",
"protein_id": "ENSP00000501933.1",
"transcript_support_level": 4,
"aa_start": 52,
"aa_end": null,
"aa_length": 445,
"cds_start": 155,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 664,
"cdna_end": null,
"cdna_length": 2104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ser52Cys",
"transcript": "ENST00000533662.2",
"protein_id": "ENSP00000502274.1",
"transcript_support_level": 2,
"aa_start": 52,
"aa_end": null,
"aa_length": 445,
"cds_start": 155,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 854,
"cdna_end": null,
"cdna_length": 2294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ser52Cys",
"transcript": "ENST00000534725.6",
"protein_id": "ENSP00000431965.2",
"transcript_support_level": 2,
"aa_start": 52,
"aa_end": null,
"aa_length": 445,
"cds_start": 155,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 2172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ser52Cys",
"transcript": "ENST00000674870.1",
"protein_id": "ENSP00000502406.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 445,
"cds_start": 155,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 1696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ser52Cys",
"transcript": "ENST00000675121.1",
"protein_id": "ENSP00000501993.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 445,
"cds_start": 155,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 300,
"cdna_end": null,
"cdna_length": 1740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ser52Cys",
"transcript": "ENST00000675280.1",
"protein_id": "ENSP00000502796.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 445,
"cds_start": 155,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 1879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ser52Cys",
"transcript": "ENST00000675292.1",
"protein_id": "ENSP00000502652.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 445,
"cds_start": 155,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 659,
"cdna_end": null,
"cdna_length": 2099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ser52Cys",
"transcript": "ENST00000675888.1",
"protein_id": "ENSP00000502294.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 445,
"cds_start": 155,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 1840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ser52Cys",
"transcript": "ENST00000675787.1",
"protein_id": "ENSP00000502189.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 439,
"cds_start": 155,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 1690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ser52Cys",
"transcript": "ENST00000524541.5",
"protein_id": "ENSP00000434239.1",
"transcript_support_level": 4,
"aa_start": 52,
"aa_end": null,
"aa_length": 68,
"cds_start": 155,
"cds_end": null,
"cds_length": 208,
"cdna_start": 442,
"cdna_end": null,
"cdna_length": 495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "n.155C>G",
"hgvs_p": null,
"transcript": "ENST00000526779.3",
"protein_id": "ENSP00000436917.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "n.155C>G",
"hgvs_p": null,
"transcript": "ENST00000674779.1",
"protein_id": "ENSP00000501929.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "n.253C>G",
"hgvs_p": null,
"transcript": "ENST00000674821.1",
"protein_id": "ENSP00000502219.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "n.155C>G",
"hgvs_p": null,
"transcript": "ENST00000676358.1",
"protein_id": "ENSP00000501821.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "n.615C>G",
"hgvs_p": null,
"transcript": "NR_045600.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.-110C>G",
"hgvs_p": null,
"transcript": "NM_001410949.1",
"protein_id": "NP_001397878.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 357,
"cds_start": -4,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.-110C>G",
"hgvs_p": null,
"transcript": "ENST00000526891.2",
"protein_id": "ENSP00000502670.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 357,
"cds_start": -4,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.130+224C>G",
"hgvs_p": null,
"transcript": "NM_001363122.2",
"protein_id": "NP_001350051.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 281,
"cds_start": -4,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.130+224C>G",
"hgvs_p": null,
"transcript": "NM_001438089.1",
"protein_id": "NP_001425018.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 281,
"cds_start": -4,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.130+224C>G",
"hgvs_p": null,
"transcript": "NM_001438494.1",
"protein_id": "NP_001425423.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 281,
"cds_start": -4,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.130+224C>G",
"hgvs_p": null,
"transcript": "NM_001438498.1",
"protein_id": "NP_001425427.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 281,
"cds_start": -4,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.130+224C>G",
"hgvs_p": null,
"transcript": "NM_001438499.1",
"protein_id": "NP_001425428.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 281,
"cds_start": -4,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.130+224C>G",
"hgvs_p": null,
"transcript": "ENST00000526338.7",
"protein_id": "ENSP00000433583.3",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 281,
"cds_start": -4,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.130+224C>G",
"hgvs_p": null,
"transcript": "ENST00000674929.1",
"protein_id": "ENSP00000501554.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 281,
"cds_start": -4,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.130+224C>G",
"hgvs_p": null,
"transcript": "ENST00000675597.1",
"protein_id": "ENSP00000501973.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 281,
"cds_start": -4,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.130+224C>G",
"hgvs_p": null,
"transcript": "ENST00000676094.1",
"protein_id": "ENSP00000502066.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 262,
"cds_start": -4,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.130+224C>G",
"hgvs_p": null,
"transcript": "ENST00000526752.3",
"protein_id": "ENSP00000433796.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 111,
"cds_start": -4,
"cds_end": null,
"cds_length": 336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"dbsnp": "rs397514657",
"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": 0.3324829936027527,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.266,
"revel_prediction": "Benign",
"alphamissense_score": 0.1174,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.119,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM5,BP4",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 1,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PM5",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000643944.2",
"gene_symbol": "SLC52A2",
"hgnc_id": 30224,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ser52Cys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}