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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: 8-38402549-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=38402549&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 38402549,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000379957.9",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Ala337Thr",
"transcript": "NM_001286819.2",
"protein_id": "NP_001273748.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 491,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1136,
"cdna_end": null,
"cdna_length": 2856,
"mane_select": "ENST00000379957.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Ala337Thr",
"transcript": "ENST00000379957.9",
"protein_id": "ENSP00000369291.4",
"transcript_support_level": 5,
"aa_start": 337,
"aa_end": null,
"aa_length": 491,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1136,
"cdna_end": null,
"cdna_length": 2856,
"mane_select": "NM_001286819.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.868G>A",
"hgvs_p": "p.Ala290Thr",
"transcript": "ENST00000523983.6",
"protein_id": "ENSP00000428765.2",
"transcript_support_level": 1,
"aa_start": 290,
"aa_end": null,
"aa_length": 444,
"cds_start": 868,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1040,
"cdna_end": null,
"cdna_length": 1776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.367G>A",
"hgvs_p": "p.Ala123Thr",
"transcript": "ENST00000527710.5",
"protein_id": "ENSP00000434867.1",
"transcript_support_level": 1,
"aa_start": 123,
"aa_end": null,
"aa_length": 277,
"cds_start": 367,
"cds_end": null,
"cds_length": 834,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 1261,
"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": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "n.*414G>A",
"hgvs_p": null,
"transcript": "ENST00000523268.6",
"protein_id": "ENSP00000428944.2",
"transcript_support_level": 1,
"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": 2745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "n.*414G>A",
"hgvs_p": null,
"transcript": "ENST00000523268.6",
"protein_id": "ENSP00000428944.2",
"transcript_support_level": 1,
"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": 2745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.868G>A",
"hgvs_p": "p.Ala290Thr",
"transcript": "NM_001199659.3",
"protein_id": "NP_001186588.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 444,
"cds_start": 868,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 2785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.865G>A",
"hgvs_p": "p.Ala289Thr",
"transcript": "NM_001330515.2",
"protein_id": "NP_001317444.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 443,
"cds_start": 865,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 992,
"cdna_end": null,
"cdna_length": 2712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.865G>A",
"hgvs_p": "p.Ala289Thr",
"transcript": "ENST00000524874.5",
"protein_id": "ENSP00000431211.1",
"transcript_support_level": 5,
"aa_start": 289,
"aa_end": null,
"aa_length": 443,
"cds_start": 865,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 992,
"cdna_end": null,
"cdna_length": 1459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Ala242Thr",
"transcript": "NM_144652.4",
"protein_id": "NP_653253.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 396,
"cds_start": 724,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 921,
"cdna_end": null,
"cdna_length": 2641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Ala242Thr",
"transcript": "ENST00000297720.9",
"protein_id": "ENSP00000297720.5",
"transcript_support_level": 2,
"aa_start": 242,
"aa_end": null,
"aa_length": 396,
"cds_start": 724,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 956,
"cdna_end": null,
"cdna_length": 1693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.466G>A",
"hgvs_p": "p.Ala156Thr",
"transcript": "NM_001363204.1",
"protein_id": "NP_001350133.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 310,
"cds_start": 466,
"cds_end": null,
"cds_length": 933,
"cdna_start": 1259,
"cdna_end": null,
"cdna_length": 2979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.400G>A",
"hgvs_p": "p.Ala134Thr",
"transcript": "NM_001199660.3",
"protein_id": "NP_001186589.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 288,
"cds_start": 400,
"cds_end": null,
"cds_length": 867,
"cdna_start": 928,
"cdna_end": null,
"cdna_length": 2648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.400G>A",
"hgvs_p": "p.Ala134Thr",
"transcript": "NM_001286787.2",
"protein_id": "NP_001273716.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 288,
"cds_start": 400,
"cds_end": null,
"cds_length": 867,
"cdna_start": 1051,
"cdna_end": null,
"cdna_length": 2771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.400G>A",
"hgvs_p": "p.Ala134Thr",
"transcript": "NM_001363205.1",
"protein_id": "NP_001350134.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 288,
"cds_start": 400,
"cds_end": null,
"cds_length": 867,
"cdna_start": 980,
"cdna_end": null,
"cdna_length": 2700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Ala337Thr",
"transcript": "XM_017013051.2",
"protein_id": "XP_016868540.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 491,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1408,
"cdna_end": null,
"cdna_length": 3128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Ala337Thr",
"transcript": "XM_017013052.2",
"protein_id": "XP_016868541.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 491,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1136,
"cdna_end": null,
"cdna_length": 2856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Ala337Thr",
"transcript": "XM_017013053.2",
"protein_id": "XP_016868542.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 491,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 4814,
"cdna_end": null,
"cdna_length": 6534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Ala337Thr",
"transcript": "XM_017013054.2",
"protein_id": "XP_016868543.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 491,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1096,
"cdna_end": null,
"cdna_length": 2816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Ala337Thr",
"transcript": "XM_017013055.2",
"protein_id": "XP_016868544.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 491,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1358,
"cdna_end": null,
"cdna_length": 3078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Ala337Thr",
"transcript": "XM_017013056.2",
"protein_id": "XP_016868545.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 491,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1179,
"cdna_end": null,
"cdna_length": 2899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Ala337Thr",
"transcript": "XM_047421383.1",
"protein_id": "XP_047277339.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 437,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1136,
"cdna_end": null,
"cdna_length": 1567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Ala337Thr",
"transcript": "XM_011544408.3",
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"aa_start": 337,
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"cds_length": 1230,
"cdna_start": 1136,
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"cdna_length": 3095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
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"exon_count": 8,
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"gene_symbol": "LETM2",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
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"gene_symbol": "LETM2",
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"transcript": "ENST00000518121.5",
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"feature": null
},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "LETM2",
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"transcript": "ENST00000518883.6",
"protein_id": "ENSP00000429019.2",
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"aa_end": null,
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"cds_start": -4,
"cds_end": null,
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"cdna_length": 2250,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"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": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "n.196G>A",
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"transcript": "ENST00000528827.1",
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"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
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"hgvs_c": "n.1136G>A",
"hgvs_p": null,
"transcript": "XR_007060702.1",
"protein_id": null,
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"aa_start": null,
"aa_end": null,
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"cds_end": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
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"exon_count": 11,
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"gene_symbol": "LETM2",
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"transcript": "ENST00000518883.6",
"protein_id": "ENSP00000429019.2",
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"aa_start": null,
"aa_end": null,
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"cds_start": -4,
"cds_end": null,
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"cdna_length": 2250,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
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"hgvs_c": "n.*2936+345C>T",
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"transcript": "ENST00000649678.1",
"protein_id": "ENSP00000497266.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
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"gene_symbol": "LOC102723716",
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"hgvs_c": "n.2320+345C>T",
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"transcript": "NR_188043.1",
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"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_length": 3098,
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"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LETM2",
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"dbsnp": "rs749707283",
"frequency_reference_population": 0.0000061965316,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000478924,
"gnomad_genomes_af": 0.0000197114,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08101144433021545,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.025,
"revel_prediction": "Benign",
"alphamissense_score": 0.0715,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.398,
"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": 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": "ENST00000379957.9",
"gene_symbol": "LETM2",
"hgnc_id": 14648,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Ala337Thr"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_188043.1",
"gene_symbol": "LOC102723716",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.2320+345C>T",
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},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000649678.1",
"gene_symbol": "FGFR1",
"hgnc_id": 3688,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "n.*2936+345C>T",
"hgvs_p": null
}
],
"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
}