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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: 17-44320105-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=44320105&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 44320105,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001143780.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"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.976C>T",
"hgvs_p": "p.Arg326Trp",
"transcript": "NM_001143780.3",
"protein_id": "NP_001137252.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 359,
"cds_start": 976,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 1581,
"mane_select": "ENST00000377095.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"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.976C>T",
"hgvs_p": "p.Arg326Trp",
"transcript": "ENST00000377095.10",
"protein_id": "ENSP00000366299.4",
"transcript_support_level": 1,
"aa_start": 326,
"aa_end": null,
"aa_length": 359,
"cds_start": 976,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 1581,
"mane_select": "NM_001143780.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"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.952C>T",
"hgvs_p": "p.Arg318Trp",
"transcript": "ENST00000225308.12",
"protein_id": "ENSP00000225308.8",
"transcript_support_level": 1,
"aa_start": 318,
"aa_end": null,
"aa_length": 351,
"cds_start": 952,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 1127,
"cdna_end": null,
"cdna_length": 1607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"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.970C>T",
"hgvs_p": "p.Arg324Trp",
"transcript": "NM_001321241.2",
"protein_id": "NP_001308170.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 357,
"cds_start": 970,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 1098,
"cdna_end": null,
"cdna_length": 1575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"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.952C>T",
"hgvs_p": "p.Arg318Trp",
"transcript": "NM_016016.4",
"protein_id": "NP_057100.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 351,
"cds_start": 952,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 1080,
"cdna_end": null,
"cdna_length": 1557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"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.952C>T",
"hgvs_p": "p.Arg318Trp",
"transcript": "ENST00000590194.5",
"protein_id": "ENSP00000467681.1",
"transcript_support_level": 5,
"aa_start": 318,
"aa_end": null,
"aa_length": 351,
"cds_start": 952,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 1079,
"cdna_end": null,
"cdna_length": 1542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"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.907C>T",
"hgvs_p": "p.Arg303Trp",
"transcript": "NM_001321240.2",
"protein_id": "NP_001308169.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 336,
"cds_start": 907,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 1035,
"cdna_end": null,
"cdna_length": 1512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"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.907C>T",
"hgvs_p": "p.Arg303Trp",
"transcript": "ENST00000537904.6",
"protein_id": "ENSP00000444540.1",
"transcript_support_level": 2,
"aa_start": 303,
"aa_end": null,
"aa_length": 336,
"cds_start": 907,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 1039,
"cdna_end": null,
"cdna_length": 1274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"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.697C>T",
"hgvs_p": "p.Arg233Trp",
"transcript": "ENST00000588767.5",
"protein_id": "ENSP00000466615.1",
"transcript_support_level": 5,
"aa_start": 233,
"aa_end": null,
"aa_length": 266,
"cds_start": 697,
"cds_end": null,
"cds_length": 801,
"cdna_start": 697,
"cdna_end": null,
"cdna_length": 807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"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.673C>T",
"hgvs_p": "p.Arg225Trp",
"transcript": "NM_001366726.1",
"protein_id": "NP_001353655.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 258,
"cds_start": 673,
"cds_end": null,
"cds_length": 777,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 1489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"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.580C>T",
"hgvs_p": "p.Arg194Trp",
"transcript": "ENST00000586016.5",
"protein_id": "ENSP00000466676.1",
"transcript_support_level": 5,
"aa_start": 194,
"aa_end": null,
"aa_length": 227,
"cds_start": 580,
"cds_end": null,
"cds_length": 684,
"cdna_start": 724,
"cdna_end": null,
"cdna_length": 1156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"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.994C>T",
"hgvs_p": "p.Arg332Trp",
"transcript": "XM_011524880.4",
"protein_id": "XP_011523182.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 365,
"cds_start": 994,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 1122,
"cdna_end": null,
"cdna_length": 1599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"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.994C>T",
"hgvs_p": "p.Arg332Trp",
"transcript": "XM_047436234.1",
"protein_id": "XP_047292190.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 365,
"cds_start": 994,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 2255,
"cdna_end": null,
"cdna_length": 2732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"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.970C>T",
"hgvs_p": "p.Arg324Trp",
"transcript": "XM_047436235.1",
"protein_id": "XP_047292191.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 357,
"cds_start": 970,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 2231,
"cdna_end": null,
"cdna_length": 2708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"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.925C>T",
"hgvs_p": "p.Arg309Trp",
"transcript": "XM_047436236.1",
"protein_id": "XP_047292192.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 342,
"cds_start": 925,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 2186,
"cdna_end": null,
"cdna_length": 2663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"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.907C>T",
"hgvs_p": "p.Arg303Trp",
"transcript": "XM_047436237.1",
"protein_id": "XP_047292193.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 336,
"cds_start": 907,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 2168,
"cdna_end": null,
"cdna_length": 2645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"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.691C>T",
"hgvs_p": "p.Arg231Trp",
"transcript": "XM_047436238.1",
"protein_id": "XP_047292194.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 264,
"cds_start": 691,
"cds_end": null,
"cds_length": 795,
"cdna_start": 798,
"cdna_end": null,
"cdna_length": 1275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"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.691C>T",
"hgvs_p": "p.Arg231Trp",
"transcript": "XM_047436239.1",
"protein_id": "XP_047292195.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 264,
"cds_start": 691,
"cds_end": null,
"cds_length": 795,
"cdna_start": 775,
"cdna_end": null,
"cdna_length": 1252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"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.691C>T",
"hgvs_p": "p.Arg231Trp",
"transcript": "XM_047436240.1",
"protein_id": "XP_047292196.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 264,
"cds_start": 691,
"cds_end": null,
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"cdna_start": 753,
"cdna_end": null,
"cdna_length": 1230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"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.673C>T",
"hgvs_p": "p.Arg225Trp",
"transcript": "XM_047436241.1",
"protein_id": "XP_047292197.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 258,
"cds_start": 673,
"cds_end": null,
"cds_length": 777,
"cdna_start": 757,
"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.1739C>T",
"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.453C>T",
"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.*326C>T",
"hgvs_p": null,
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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": 11,
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"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "SLC25A39",
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"hgvs_c": "n.1282C>T",
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"transcript": "NR_159401.1",
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"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,
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"gene_symbol": "SLC25A39",
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"hgvs_c": "n.970C>T",
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"transcript": "NR_159402.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 11,
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"gene_symbol": "SLC25A39",
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"hgvs_c": "n.1306C>T",
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"transcript": "NR_159403.1",
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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,
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"gene_symbol": "SLC25A39",
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"hgvs_c": "n.1237C>T",
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"transcript": "NR_159404.1",
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},
{
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"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 10,
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"gene_symbol": "SLC25A39",
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"hgvs_c": "n.1172C>T",
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"transcript": "NR_159405.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
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"exon_count": 5,
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"gene_symbol": "SLC25A39",
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"hgvs_c": "n.*326C>T",
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"transcript": "ENST00000593166.1",
"protein_id": "ENSP00000467964.1",
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"aa_end": null,
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"cds_start": -4,
"cds_end": null,
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"feature": null
}
],
"gene_symbol": "SLC25A39",
"gene_hgnc_id": 24279,
"dbsnp": "rs778758238",
"frequency_reference_population": 0.000010533281,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.0000095774,
"gnomad_genomes_af": 0.0000197163,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9632436633110046,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.778,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9204,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.35,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.189,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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.976C>T",
"hgvs_p": "p.Arg326Trp"
}
],
"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
}