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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: 11-66366180-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=66366180&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 66366180,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001532.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"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.919G>A",
"hgvs_p": "p.Val307Ile",
"transcript": "NM_001532.3",
"protein_id": "NP_001523.2",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 456,
"cds_start": 919,
"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": "V",
"aa_alt": "I",
"canonical": true,
"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.919G>A",
"hgvs_p": "p.Val307Ile",
"transcript": "ENST00000357440.7",
"protein_id": "ENSP00000350024.2",
"transcript_support_level": 1,
"aa_start": 307,
"aa_end": null,
"aa_length": 456,
"cds_start": 919,
"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": "R",
"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.785G>A",
"hgvs_p": "p.Arg262His",
"transcript": "ENST00000311161.11",
"protein_id": "ENSP00000311250.7",
"transcript_support_level": 1,
"aa_start": 262,
"aa_end": null,
"aa_length": 361,
"cds_start": 785,
"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": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A2",
"gene_hgnc_id": 11004,
"hgvs_c": "n.879G>A",
"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": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A2",
"gene_hgnc_id": 11004,
"hgvs_c": "n.*242G>A",
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_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": "n.*242G>A",
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A2",
"gene_hgnc_id": 11004,
"hgvs_c": "c.919G>A",
"hgvs_p": "p.Val307Ile",
"transcript": "NM_001300868.2",
"protein_id": "NP_001287797.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 456,
"cds_start": 919,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A2",
"gene_hgnc_id": 11004,
"hgvs_c": "c.919G>A",
"hgvs_p": "p.Val307Ile",
"transcript": "ENST00000544554.5",
"protein_id": "ENSP00000439456.1",
"transcript_support_level": 2,
"aa_start": 307,
"aa_end": null,
"aa_length": 456,
"cds_start": 919,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A2",
"gene_hgnc_id": 11004,
"hgvs_c": "c.919G>A",
"hgvs_p": "p.Val307Ile",
"transcript": "ENST00000546034.1",
"protein_id": "ENSP00000440329.1",
"transcript_support_level": 5,
"aa_start": 307,
"aa_end": null,
"aa_length": 456,
"cds_start": 919,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A2",
"gene_hgnc_id": 11004,
"hgvs_c": "c.919G>A",
"hgvs_p": "p.Val307Ile",
"transcript": "ENST00000873641.1",
"protein_id": "ENSP00000543700.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 456,
"cds_start": 919,
"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": "V",
"aa_alt": "I",
"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.910G>A",
"hgvs_p": "p.Val304Ile",
"transcript": "ENST00000932628.1",
"protein_id": "ENSP00000602687.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 453,
"cds_start": 910,
"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": "V",
"aa_alt": "I",
"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.790G>A",
"hgvs_p": "p.Val264Ile",
"transcript": "ENST00000932627.1",
"protein_id": "ENSP00000602686.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 413,
"cds_start": 790,
"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": "V",
"aa_alt": "I",
"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.784G>A",
"hgvs_p": "p.Val262Ile",
"transcript": "ENST00000932624.1",
"protein_id": "ENSP00000602683.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 411,
"cds_start": 784,
"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": "R",
"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.785G>A",
"hgvs_p": "p.Arg262His",
"transcript": "ENST00000944719.1",
"protein_id": "ENSP00000614778.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 410,
"cds_start": 785,
"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": "V",
"aa_alt": "I",
"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.745G>A",
"hgvs_p": "p.Val249Ile",
"transcript": "ENST00000932625.1",
"protein_id": "ENSP00000602684.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 398,
"cds_start": 745,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A2",
"gene_hgnc_id": 11004,
"hgvs_c": "c.785G>A",
"hgvs_p": "p.Arg262His",
"transcript": "NM_001300869.2",
"protein_id": "NP_001287798.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 361,
"cds_start": 785,
"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": "R",
"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.785G>A",
"hgvs_p": "p.Arg262His",
"transcript": "ENST00000619145.4",
"protein_id": "ENSP00000481944.1",
"transcript_support_level": 5,
"aa_start": 262,
"aa_end": null,
"aa_length": 361,
"cds_start": 785,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A2",
"gene_hgnc_id": 11004,
"hgvs_c": "c.1118G>A",
"hgvs_p": "p.Arg373His",
"transcript": "XM_047426860.1",
"protein_id": "XP_047282816.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 472,
"cds_start": 1118,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A2",
"gene_hgnc_id": 11004,
"hgvs_c": "c.1118G>A",
"hgvs_p": "p.Arg373His",
"transcript": "XM_047426861.1",
"protein_id": "XP_047282817.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 472,
"cds_start": 1118,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A2",
"gene_hgnc_id": 11004,
"hgvs_c": "c.919G>A",
"hgvs_p": "p.Val307Ile",
"transcript": "XM_017017632.2",
"protein_id": "XP_016873121.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 456,
"cds_start": 919,
"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": "XM_017017632.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A2",
"gene_hgnc_id": 11004,
"hgvs_c": "c.919G>A",
"hgvs_p": "p.Val307Ile",
"transcript": "XM_047426862.1",
"protein_id": "XP_047282818.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 456,
"cds_start": 919,
"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": "XM_047426862.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A2",
"gene_hgnc_id": 11004,
"hgvs_c": "c.785G>A",
"hgvs_p": "p.Arg262His",
"transcript": "XM_047426863.1",
"protein_id": "XP_047282819.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 361,
"cds_start": 785,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
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"biotype": "protein_coding",
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},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_count": 11,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"gene_symbol": "SLC29A2",
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"hgvs_c": "c.734-159G>A",
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"transcript": "ENST00000932622.1",
"protein_id": "ENSP00000602681.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 10,
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"gene_symbol": "SLC29A2",
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"transcript": "ENST00000932623.1",
"protein_id": "ENSP00000602682.1",
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"biotype": "protein_coding",
"feature": "ENST00000932623.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 11,
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"gene_symbol": "SLC29A2",
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"transcript": "ENST00000944718.1",
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"biotype": "protein_coding",
"feature": "ENST00000944718.1"
},
{
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"protein_coding": true,
"strand": false,
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"intron_variant"
],
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"exon_count": 4,
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"gene_symbol": "SLC29A2",
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"hgvs_c": "c.112-1756G>A",
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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": 9,
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"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A2",
"gene_hgnc_id": 11004,
"hgvs_c": "n.1048G>A",
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"transcript": "NR_125343.2",
"protein_id": null,
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_125343.2"
}
],
"gene_symbol": "SLC29A2",
"gene_hgnc_id": 11004,
"dbsnp": "rs368450638",
"frequency_reference_population": 0.00006195572,
"hom_count_reference_population": 0,
"allele_count_reference_population": 100,
"gnomad_exomes_af": 0.0000677217,
"gnomad_genomes_af": 0.00000657073,
"gnomad_exomes_ac": 99,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.17681771516799927,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.416,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0877,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.74,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.04,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001532.3",
"gene_symbol": "SLC29A2",
"hgnc_id": 11004,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.919G>A",
"hgvs_p": "p.Val307Ile"
}
],
"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
}