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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: 17-44320056-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=44320056&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 44320056,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001143780.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.1025A>G",
"hgvs_p": "p.Glu342Gly",
"transcript": "NM_001143780.3",
"protein_id": "NP_001137252.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 359,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1153,
"cdna_end": null,
"cdna_length": 1581,
"mane_select": "ENST00000377095.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.1025A>G",
"hgvs_p": "p.Glu342Gly",
"transcript": "ENST00000377095.10",
"protein_id": "ENSP00000366299.4",
"transcript_support_level": 1,
"aa_start": 342,
"aa_end": null,
"aa_length": 359,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1153,
"cdna_end": null,
"cdna_length": 1581,
"mane_select": "NM_001143780.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.1001A>G",
"hgvs_p": "p.Glu334Gly",
"transcript": "ENST00000225308.12",
"protein_id": "ENSP00000225308.8",
"transcript_support_level": 1,
"aa_start": 334,
"aa_end": null,
"aa_length": 351,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 1176,
"cdna_end": null,
"cdna_length": 1607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.1019A>G",
"hgvs_p": "p.Glu340Gly",
"transcript": "NM_001321241.2",
"protein_id": "NP_001308170.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 357,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 1147,
"cdna_end": null,
"cdna_length": 1575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.1001A>G",
"hgvs_p": "p.Glu334Gly",
"transcript": "NM_016016.4",
"protein_id": "NP_057100.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 351,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 1129,
"cdna_end": null,
"cdna_length": 1557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.1001A>G",
"hgvs_p": "p.Glu334Gly",
"transcript": "ENST00000590194.5",
"protein_id": "ENSP00000467681.1",
"transcript_support_level": 5,
"aa_start": 334,
"aa_end": null,
"aa_length": 351,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 1128,
"cdna_end": null,
"cdna_length": 1542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.956A>G",
"hgvs_p": "p.Glu319Gly",
"transcript": "NM_001321240.2",
"protein_id": "NP_001308169.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 336,
"cds_start": 956,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 1084,
"cdna_end": null,
"cdna_length": 1512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.956A>G",
"hgvs_p": "p.Glu319Gly",
"transcript": "ENST00000537904.6",
"protein_id": "ENSP00000444540.1",
"transcript_support_level": 2,
"aa_start": 319,
"aa_end": null,
"aa_length": 336,
"cds_start": 956,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 1088,
"cdna_end": null,
"cdna_length": 1274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.746A>G",
"hgvs_p": "p.Glu249Gly",
"transcript": "ENST00000588767.5",
"protein_id": "ENSP00000466615.1",
"transcript_support_level": 5,
"aa_start": 249,
"aa_end": null,
"aa_length": 266,
"cds_start": 746,
"cds_end": null,
"cds_length": 801,
"cdna_start": 746,
"cdna_end": null,
"cdna_length": 807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.722A>G",
"hgvs_p": "p.Glu241Gly",
"transcript": "NM_001366726.1",
"protein_id": "NP_001353655.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 258,
"cds_start": 722,
"cds_end": null,
"cds_length": 777,
"cdna_start": 1061,
"cdna_end": null,
"cdna_length": 1489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.629A>G",
"hgvs_p": "p.Glu210Gly",
"transcript": "ENST00000586016.5",
"protein_id": "ENSP00000466676.1",
"transcript_support_level": 5,
"aa_start": 210,
"aa_end": null,
"aa_length": 227,
"cds_start": 629,
"cds_end": null,
"cds_length": 684,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 1156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.1043A>G",
"hgvs_p": "p.Glu348Gly",
"transcript": "XM_011524880.4",
"protein_id": "XP_011523182.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 365,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 1171,
"cdna_end": null,
"cdna_length": 1599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.1043A>G",
"hgvs_p": "p.Glu348Gly",
"transcript": "XM_047436234.1",
"protein_id": "XP_047292190.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 365,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 2304,
"cdna_end": null,
"cdna_length": 2732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.1019A>G",
"hgvs_p": "p.Glu340Gly",
"transcript": "XM_047436235.1",
"protein_id": "XP_047292191.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 357,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 2280,
"cdna_end": null,
"cdna_length": 2708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.974A>G",
"hgvs_p": "p.Glu325Gly",
"transcript": "XM_047436236.1",
"protein_id": "XP_047292192.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 342,
"cds_start": 974,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 2235,
"cdna_end": null,
"cdna_length": 2663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.956A>G",
"hgvs_p": "p.Glu319Gly",
"transcript": "XM_047436237.1",
"protein_id": "XP_047292193.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 336,
"cds_start": 956,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 2217,
"cdna_end": null,
"cdna_length": 2645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.740A>G",
"hgvs_p": "p.Glu247Gly",
"transcript": "XM_047436238.1",
"protein_id": "XP_047292194.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 264,
"cds_start": 740,
"cds_end": null,
"cds_length": 795,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 1275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.740A>G",
"hgvs_p": "p.Glu247Gly",
"transcript": "XM_047436239.1",
"protein_id": "XP_047292195.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 264,
"cds_start": 740,
"cds_end": null,
"cds_length": 795,
"cdna_start": 824,
"cdna_end": null,
"cdna_length": 1252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.740A>G",
"hgvs_p": "p.Glu247Gly",
"transcript": "XM_047436240.1",
"protein_id": "XP_047292196.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 264,
"cds_start": 740,
"cds_end": null,
"cds_length": 795,
"cdna_start": 802,
"cdna_end": null,
"cdna_length": 1230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "c.722A>G",
"hgvs_p": "p.Glu241Gly",
"transcript": "XM_047436241.1",
"protein_id": "XP_047292197.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 258,
"cds_start": 722,
"cds_end": null,
"cds_length": 777,
"cdna_start": 806,
"cdna_end": null,
"cdna_length": 1234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "n.1788A>G",
"hgvs_p": null,
"transcript": "ENST00000591006.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 2217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "n.502A>G",
"hgvs_p": null,
"transcript": "ENST00000592372.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "n.*375A>G",
"hgvs_p": null,
"transcript": "ENST00000593166.1",
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"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
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"transcript": "NR_159401.1",
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"cds_end": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
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"hgvs_c": "n.1019A>G",
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"transcript": "NR_159402.1",
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"cds_end": null,
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"cdna_length": 1447,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
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"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
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"hgvs_c": "n.1355A>G",
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"transcript": "NR_159403.1",
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"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 1783,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "SLC25A39",
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"hgvs_c": "n.1286A>G",
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"transcript": "NR_159404.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
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"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
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"hgvs_c": "n.1221A>G",
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"transcript": "NR_159405.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_length": 1649,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"hgvs_c": "n.*375A>G",
"hgvs_p": null,
"transcript": "ENST00000593166.1",
"protein_id": "ENSP00000467964.1",
"transcript_support_level": 3,
"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": 797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"dbsnp": null,
"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": 0.9874390363693237,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.965,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9477,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.42,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.869,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001143780.3",
"gene_symbol": "SLC25A39",
"hgnc_id": 24279,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1025A>G",
"hgvs_p": "p.Glu342Gly"
}
],
"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
}