← Back to variant description
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: 8-38401027-CTG-GTT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=38401027&ref=CTG&alt=GTT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LETM2",
"hgnc_id": 14648,
"hgvs_c": "c.958_960delCTGinsGTT",
"hgvs_p": "p.Leu320Val",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_001286819.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"intron_variant"
],
"gene_symbol": "FGFR1",
"hgnc_id": 3688,
"hgvs_c": "n.125-241_125-239delCAGinsAAC",
"hgvs_p": null,
"inheritance_mode": "AD,AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "ENST00000533301.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC102723716",
"hgnc_id": null,
"hgvs_c": "n.2398-241_2398-239delCAGinsAAC",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 1,
"score": 1,
"transcript": "NR_188043.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GTT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "8",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 491,
"aa_ref": "L",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2856,
"cdna_start": 1085,
"cds_end": null,
"cds_length": 1476,
"cds_start": 958,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001286819.2",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "c.958_960delCTGinsGTT",
"hgvs_p": "p.Leu320Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000379957.9",
"protein_coding": true,
"protein_id": "NP_001273748.1",
"strand": true,
"transcript": "NM_001286819.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 491,
"aa_ref": "L",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2856,
"cdna_start": 1085,
"cds_end": null,
"cds_length": 1476,
"cds_start": 958,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000379957.9",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "c.958_960delCTGinsGTT",
"hgvs_p": "p.Leu320Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001286819.2",
"protein_coding": true,
"protein_id": "ENSP00000369291.4",
"strand": true,
"transcript": "ENST00000379957.9",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 444,
"aa_ref": "L",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1776,
"cdna_start": 989,
"cds_end": null,
"cds_length": 1335,
"cds_start": 817,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000523983.6",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "c.817_819delCTGinsGTT",
"hgvs_p": "p.Leu273Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000428765.2",
"strand": true,
"transcript": "ENST00000523983.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 277,
"aa_ref": "L",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1261,
"cdna_start": 473,
"cds_end": null,
"cds_length": 834,
"cds_start": 316,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000527710.5",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "c.316_318delCTGinsGTT",
"hgvs_p": "p.Leu106Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434867.1",
"strand": true,
"transcript": "ENST00000527710.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2745,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000523268.6",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "n.*363_*365delCTGinsGTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000428944.2",
"strand": true,
"transcript": "ENST00000523268.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2745,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000523268.6",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "n.*363_*365delCTGinsGTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000428944.2",
"strand": true,
"transcript": "ENST00000523268.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 491,
"aa_ref": "L",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2114,
"cdna_start": 1332,
"cds_end": null,
"cds_length": 1476,
"cds_start": 958,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000948387.1",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "c.958_960delCTGinsGTT",
"hgvs_p": "p.Leu320Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618446.1",
"strand": true,
"transcript": "ENST00000948387.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 444,
"aa_ref": "L",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2785,
"cdna_start": 1014,
"cds_end": null,
"cds_length": 1335,
"cds_start": 817,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001199659.3",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "c.817_819delCTGinsGTT",
"hgvs_p": "p.Leu273Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186588.1",
"strand": true,
"transcript": "NM_001199659.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 443,
"aa_ref": "L",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2712,
"cdna_start": 941,
"cds_end": null,
"cds_length": 1332,
"cds_start": 814,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001330515.2",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "c.814_816delCTGinsGTT",
"hgvs_p": "p.Leu272Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317444.1",
"strand": true,
"transcript": "NM_001330515.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 443,
"aa_ref": "L",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1459,
"cdna_start": 941,
"cds_end": null,
"cds_length": 1332,
"cds_start": 814,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000524874.5",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "c.814_816delCTGinsGTT",
"hgvs_p": "p.Leu272Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431211.1",
"strand": true,
"transcript": "ENST00000524874.5",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 396,
"aa_ref": "L",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2641,
"cdna_start": 870,
"cds_end": null,
"cds_length": 1191,
"cds_start": 673,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_144652.4",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "c.673_675delCTGinsGTT",
"hgvs_p": "p.Leu225Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_653253.1",
"strand": true,
"transcript": "NM_144652.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 396,
"aa_ref": "L",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1693,
"cdna_start": 905,
"cds_end": null,
"cds_length": 1191,
"cds_start": 673,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000297720.9",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "c.673_675delCTGinsGTT",
"hgvs_p": "p.Leu225Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000297720.5",
"strand": true,
"transcript": "ENST00000297720.9",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 310,
"aa_ref": "L",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2979,
"cdna_start": 1208,
"cds_end": null,
"cds_length": 933,
"cds_start": 415,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001363204.1",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "c.415_417delCTGinsGTT",
"hgvs_p": "p.Leu139Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350133.1",
"strand": true,
"transcript": "NM_001363204.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 288,
"aa_ref": "L",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2648,
"cdna_start": 877,
"cds_end": null,
"cds_length": 867,
"cds_start": 349,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001199660.3",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "c.349_351delCTGinsGTT",
"hgvs_p": "p.Leu117Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186589.1",
"strand": true,
"transcript": "NM_001199660.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 288,
"aa_ref": "L",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2771,
"cdna_start": 1000,
"cds_end": null,
"cds_length": 867,
"cds_start": 349,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001286787.2",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "c.349_351delCTGinsGTT",
"hgvs_p": "p.Leu117Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273716.1",
"strand": true,
"transcript": "NM_001286787.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 288,
"aa_ref": "L",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2700,
"cdna_start": 929,
"cds_end": null,
"cds_length": 867,
"cds_start": 349,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001363205.1",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "c.349_351delCTGinsGTT",
"hgvs_p": "p.Leu117Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350134.1",
"strand": true,
"transcript": "NM_001363205.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 491,
"aa_ref": "L",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3128,
"cdna_start": 1357,
"cds_end": null,
"cds_length": 1476,
"cds_start": 958,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017013051.2",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "c.958_960delCTGinsGTT",
"hgvs_p": "p.Leu320Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016868540.1",
"strand": true,
"transcript": "XM_017013051.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 491,
"aa_ref": "L",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2856,
"cdna_start": 1085,
"cds_end": null,
"cds_length": 1476,
"cds_start": 958,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017013052.2",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "c.958_960delCTGinsGTT",
"hgvs_p": "p.Leu320Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016868541.1",
"strand": true,
"transcript": "XM_017013052.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 491,
"aa_ref": "L",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6534,
"cdna_start": 4763,
"cds_end": null,
"cds_length": 1476,
"cds_start": 958,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017013053.2",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "c.958_960delCTGinsGTT",
"hgvs_p": "p.Leu320Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016868542.1",
"strand": true,
"transcript": "XM_017013053.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 491,
"aa_ref": "L",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2816,
"cdna_start": 1045,
"cds_end": null,
"cds_length": 1476,
"cds_start": 958,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017013054.2",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "c.958_960delCTGinsGTT",
"hgvs_p": "p.Leu320Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016868543.1",
"strand": true,
"transcript": "XM_017013054.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 491,
"aa_ref": "L",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3078,
"cdna_start": 1307,
"cds_end": null,
"cds_length": 1476,
"cds_start": 958,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017013055.2",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "c.958_960delCTGinsGTT",
"hgvs_p": "p.Leu320Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016868544.1",
"strand": true,
"transcript": "XM_017013055.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 491,
"aa_ref": "L",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2899,
"cdna_start": 1128,
"cds_end": null,
"cds_length": 1476,
"cds_start": 958,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017013056.2",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "c.958_960delCTGinsGTT",
"hgvs_p": "p.Leu320Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016868545.1",
"strand": true,
"transcript": "XM_017013056.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 437,
"aa_ref": "L",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1567,
"cdna_start": 1085,
"cds_end": null,
"cds_length": 1314,
"cds_start": 958,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047421383.1",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "c.958_960delCTGinsGTT",
"hgvs_p": "p.Leu320Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277339.1",
"strand": true,
"transcript": "XM_047421383.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 409,
"aa_ref": "L",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3095,
"cdna_start": 1085,
"cds_end": null,
"cds_length": 1230,
"cds_start": 958,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011544408.3",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "c.958_960delCTGinsGTT",
"hgvs_p": "p.Leu320Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011542710.1",
"strand": true,
"transcript": "XM_011544408.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 277,
"aa_ref": "L",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2301,
"cdna_start": 530,
"cds_end": null,
"cds_length": 834,
"cds_start": 316,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011544410.3",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "c.316_318delCTGinsGTT",
"hgvs_p": "p.Leu106Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011542712.1",
"strand": true,
"transcript": "XM_011544410.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 338,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1391,
"cdna_start": null,
"cds_end": null,
"cds_length": 1017,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000889546.1",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "c.646-3366_646-3364delCTGinsGTT",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559605.1",
"strand": true,
"transcript": "ENST00000889546.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1447,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000518121.5",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "n.860_862delCTGinsGTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000518121.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2250,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000518883.6",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "n.*363_*365delCTGinsGTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000429019.2",
"strand": true,
"transcript": "ENST00000518883.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 487,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000528827.1",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "n.145_147delCTGinsGTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000528827.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1546,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XR_007060702.1",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "n.1085_1087delCTGinsGTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007060702.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2250,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000518883.6",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "n.*363_*365delCTGinsGTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000429019.2",
"strand": true,
"transcript": "ENST00000518883.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 377,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000533301.1",
"gene_hgnc_id": 3688,
"gene_symbol": "FGFR1",
"hgvs_c": "n.125-241_125-239delCAGinsAAC",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000533301.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 6216,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000649678.1",
"gene_hgnc_id": 3688,
"gene_symbol": "FGFR1",
"hgvs_c": "n.*3014-241_*3014-239delCAGinsAAC",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000497266.1",
"strand": false,
"transcript": "ENST00000649678.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3098,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_188043.1",
"gene_hgnc_id": null,
"gene_symbol": "LOC102723716",
"hgvs_c": "n.2398-241_2398-239delCAGinsAAC",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_188043.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.674,
"pos": 38401027,
"ref": "CTG",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001286819.2"
}
]
}