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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: 11-66367536-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=66367536&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 66367536,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001532.3",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A2",
"gene_hgnc_id": 11004,
"hgvs_c": "c.661T>C",
"hgvs_p": "p.Tyr221His",
"transcript": "NM_001532.3",
"protein_id": "NP_001523.2",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 456,
"cds_start": 661,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000357440.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001532.3"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A2",
"gene_hgnc_id": 11004,
"hgvs_c": "c.661T>C",
"hgvs_p": "p.Tyr221His",
"transcript": "ENST00000357440.7",
"protein_id": "ENSP00000350024.2",
"transcript_support_level": 1,
"aa_start": 221,
"aa_end": null,
"aa_length": 456,
"cds_start": 661,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001532.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357440.7"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A2",
"gene_hgnc_id": 11004,
"hgvs_c": "c.661T>C",
"hgvs_p": "p.Tyr221His",
"transcript": "ENST00000311161.11",
"protein_id": "ENSP00000311250.7",
"transcript_support_level": 1,
"aa_start": 221,
"aa_end": null,
"aa_length": 361,
"cds_start": 661,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311161.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A2",
"gene_hgnc_id": 11004,
"hgvs_c": "n.661T>C",
"hgvs_p": null,
"transcript": "ENST00000540386.5",
"protein_id": "ENSP00000444870.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000540386.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A2",
"gene_hgnc_id": 11004,
"hgvs_c": "n.593T>C",
"hgvs_p": null,
"transcript": "ENST00000541567.5",
"protein_id": "ENSP00000442116.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000541567.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A2",
"gene_hgnc_id": 11004,
"hgvs_c": "c.661T>C",
"hgvs_p": "p.Tyr221His",
"transcript": "NM_001300868.2",
"protein_id": "NP_001287797.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 456,
"cds_start": 661,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300868.2"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A2",
"gene_hgnc_id": 11004,
"hgvs_c": "c.661T>C",
"hgvs_p": "p.Tyr221His",
"transcript": "ENST00000544554.5",
"protein_id": "ENSP00000439456.1",
"transcript_support_level": 2,
"aa_start": 221,
"aa_end": null,
"aa_length": 456,
"cds_start": 661,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544554.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A2",
"gene_hgnc_id": 11004,
"hgvs_c": "c.661T>C",
"hgvs_p": "p.Tyr221His",
"transcript": "ENST00000546034.1",
"protein_id": "ENSP00000440329.1",
"transcript_support_level": 5,
"aa_start": 221,
"aa_end": null,
"aa_length": 456,
"cds_start": 661,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546034.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A2",
"gene_hgnc_id": 11004,
"hgvs_c": "c.661T>C",
"hgvs_p": "p.Tyr221His",
"transcript": "ENST00000873641.1",
"protein_id": "ENSP00000543700.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 456,
"cds_start": 661,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873641.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A2",
"gene_hgnc_id": 11004,
"hgvs_c": "c.652T>C",
"hgvs_p": "p.Tyr218His",
"transcript": "ENST00000932628.1",
"protein_id": "ENSP00000602687.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 453,
"cds_start": 652,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932628.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A2",
"gene_hgnc_id": 11004,
"hgvs_c": "c.532T>C",
"hgvs_p": "p.Tyr178His",
"transcript": "ENST00000932627.1",
"protein_id": "ENSP00000602686.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 413,
"cds_start": 532,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932627.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A2",
"gene_hgnc_id": 11004,
"hgvs_c": "c.526T>C",
"hgvs_p": "p.Tyr176His",
"transcript": "ENST00000932624.1",
"protein_id": "ENSP00000602683.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 411,
"cds_start": 526,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932624.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A2",
"gene_hgnc_id": 11004,
"hgvs_c": "c.661T>C",
"hgvs_p": "p.Tyr221His",
"transcript": "ENST00000944719.1",
"protein_id": "ENSP00000614778.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 410,
"cds_start": 661,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944719.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A2",
"gene_hgnc_id": 11004,
"hgvs_c": "c.661T>C",
"hgvs_p": "p.Tyr221His",
"transcript": "ENST00000932625.1",
"protein_id": "ENSP00000602684.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 398,
"cds_start": 661,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932625.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A2",
"gene_hgnc_id": 11004,
"hgvs_c": "c.661T>C",
"hgvs_p": "p.Tyr221His",
"transcript": "ENST00000932622.1",
"protein_id": "ENSP00000602681.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 376,
"cds_start": 661,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932622.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A2",
"gene_hgnc_id": 11004,
"hgvs_c": "c.661T>C",
"hgvs_p": "p.Tyr221His",
"transcript": "ENST00000932623.1",
"protein_id": "ENSP00000602682.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 376,
"cds_start": 661,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932623.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A2",
"gene_hgnc_id": 11004,
"hgvs_c": "c.661T>C",
"hgvs_p": "p.Tyr221His",
"transcript": "ENST00000944718.1",
"protein_id": "ENSP00000614777.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 376,
"cds_start": 661,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944718.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A2",
"gene_hgnc_id": 11004,
"hgvs_c": "c.661T>C",
"hgvs_p": "p.Tyr221His",
"transcript": "NM_001300869.2",
"protein_id": "NP_001287798.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 361,
"cds_start": 661,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300869.2"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A2",
"gene_hgnc_id": 11004,
"hgvs_c": "c.661T>C",
"hgvs_p": "p.Tyr221His",
"transcript": "ENST00000619145.4",
"protein_id": "ENSP00000481944.1",
"transcript_support_level": 5,
"aa_start": 221,
"aa_end": null,
"aa_length": 361,
"cds_start": 661,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619145.4"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A2",
"gene_hgnc_id": 11004,
"hgvs_c": "c.661T>C",
"hgvs_p": "p.Tyr221His",
"transcript": "XM_047426860.1",
"protein_id": "XP_047282816.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 472,
"cds_start": 661,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426860.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A2",
"gene_hgnc_id": 11004,
"hgvs_c": "c.661T>C",
"hgvs_p": "p.Tyr221His",
"transcript": "XM_047426861.1",
"protein_id": "XP_047282817.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 472,
"cds_start": 661,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426861.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A2",
"gene_hgnc_id": 11004,
"hgvs_c": "c.661T>C",
"hgvs_p": "p.Tyr221His",
"transcript": "XM_017017632.2",
"protein_id": "XP_016873121.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 456,
"cds_start": 661,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
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],
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"gene_symbol": "SLC29A2",
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"protein_id": "XP_047282818.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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"exon_count": 11,
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"gene_symbol": "SLC29A2",
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"hgvs_c": "c.661T>C",
"hgvs_p": "p.Tyr221His",
"transcript": "XM_047426863.1",
"protein_id": "XP_047282819.1",
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"feature": "XM_047426863.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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"gene_symbol": "SLC29A2",
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"hgvs_c": "c.661T>C",
"hgvs_p": "p.Tyr221His",
"transcript": "XM_047426864.1",
"protein_id": "XP_047282820.1",
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"cds_length": 906,
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"biotype": "protein_coding",
"feature": "XM_047426864.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 4,
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"gene_symbol": "SLC29A2",
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"hgvs_c": "c.112-3112T>C",
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"transcript": "ENST00000932626.1",
"protein_id": "ENSP00000602685.1",
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"biotype": "protein_coding",
"feature": "ENST00000932626.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
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"exon_count": 12,
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"intron_rank_end": null,
"gene_symbol": "SLC29A2",
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"hgvs_c": "n.830T>C",
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"transcript": "NR_125343.2",
"protein_id": null,
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_125343.2"
}
],
"gene_symbol": "SLC29A2",
"gene_hgnc_id": 11004,
"dbsnp": "rs780663371",
"frequency_reference_population": 0.0000061564897,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000615649,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.30660903453826904,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.126,
"revel_prediction": "Benign",
"alphamissense_score": 0.1068,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.824,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001532.3",
"gene_symbol": "SLC29A2",
"hgnc_id": 11004,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.661T>C",
"hgvs_p": "p.Tyr221His"
}
],
"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
}