← 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: 9-127818828-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=127818828&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 3,
"criteria": [
"BS1_Supporting",
"BP4",
"BS3_Supporting"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ENG",
"hgnc_id": 3349,
"hgvs_c": "c.1316A>C",
"hgvs_p": "p.Lys439Thr",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -3,
"transcript": "NM_001114753.3",
"verdict": "Likely_benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000225032",
"hgnc_id": null,
"hgvs_c": "n.1568+117T>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000439298.5",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC102723566",
"hgnc_id": null,
"hgvs_c": "n.1568+117T>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "NR_136302.1",
"verdict": "Benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS1_Supporting,BP4,BS3_Supporting",
"acmg_score": -3,
"allele_count_reference_population": 138,
"alphamissense_prediction": null,
"alphamissense_score": 0.1192,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.6,
"chr": "9",
"clinvar_classification": "Likely benign",
"clinvar_disease": " hereditary hemorrhagic, type 1,Hereditary hemorrhagic telangiectasia,Telangiectasia,not provided",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "US:2 LB:2 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.04198354482650757,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 658,
"aa_ref": "K",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2946,
"cdna_start": 1619,
"cds_end": null,
"cds_length": 1977,
"cds_start": 1316,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001114753.3",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.1316A>C",
"hgvs_p": "p.Lys439Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000373203.9",
"protein_coding": true,
"protein_id": "NP_001108225.1",
"strand": false,
"transcript": "NM_001114753.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 658,
"aa_ref": "K",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2946,
"cdna_start": 1619,
"cds_end": null,
"cds_length": 1977,
"cds_start": 1316,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000373203.9",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.1316A>C",
"hgvs_p": "p.Lys439Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001114753.3",
"protein_coding": true,
"protein_id": "ENSP00000362299.4",
"strand": false,
"transcript": "ENST00000373203.9",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 625,
"aa_ref": "K",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3198,
"cdna_start": 1734,
"cds_end": null,
"cds_length": 1878,
"cds_start": 1316,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000344849.5",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.1316A>C",
"hgvs_p": "p.Lys439Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000341917.3",
"strand": false,
"transcript": "ENST00000344849.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 698,
"aa_ref": "K",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2741,
"cdna_start": 1619,
"cds_end": null,
"cds_length": 2097,
"cds_start": 1316,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000714047.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.1316A>C",
"hgvs_p": "p.Lys439Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519338.1",
"strand": false,
"transcript": "ENST00000714047.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 667,
"aa_ref": "K",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2936,
"cdna_start": 1619,
"cds_end": null,
"cds_length": 2004,
"cds_start": 1316,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000713997.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.1316A>C",
"hgvs_p": "p.Lys439Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519287.1",
"strand": false,
"transcript": "ENST00000713997.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 666,
"aa_ref": "K",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2968,
"cdna_start": 1617,
"cds_end": null,
"cds_length": 2001,
"cds_start": 1316,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000886306.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.1316A>C",
"hgvs_p": "p.Lys439Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556365.1",
"strand": false,
"transcript": "ENST00000886306.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 663,
"aa_ref": "K",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3004,
"cdna_start": 1662,
"cds_end": null,
"cds_length": 1992,
"cds_start": 1316,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000714082.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.1316A>C",
"hgvs_p": "p.Lys439Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519373.1",
"strand": false,
"transcript": "ENST00000714082.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 658,
"aa_ref": "K",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2998,
"cdna_start": 1672,
"cds_end": null,
"cds_length": 1977,
"cds_start": 1316,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000942917.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.1316A>C",
"hgvs_p": "p.Lys439Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612976.1",
"strand": false,
"transcript": "ENST00000942917.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 655,
"aa_ref": "K",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2970,
"cdna_start": 1634,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1292,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000942919.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.1292A>C",
"hgvs_p": "p.Lys431Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612978.1",
"strand": false,
"transcript": "ENST00000942919.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 650,
"aa_ref": "K",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2661,
"cdna_start": 1337,
"cds_end": null,
"cds_length": 1953,
"cds_start": 1292,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000714046.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.1292A>C",
"hgvs_p": "p.Lys431Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519337.1",
"strand": false,
"transcript": "ENST00000714046.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 650,
"aa_ref": "K",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2775,
"cdna_start": 1439,
"cds_end": null,
"cds_length": 1953,
"cds_start": 1277,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000942922.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.1277A>C",
"hgvs_p": "p.Lys426Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612981.1",
"strand": false,
"transcript": "ENST00000942922.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 645,
"aa_ref": "K",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2970,
"cdna_start": 1641,
"cds_end": null,
"cds_length": 1938,
"cds_start": 1277,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000942918.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.1277A>C",
"hgvs_p": "p.Lys426Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612977.1",
"strand": false,
"transcript": "ENST00000942918.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 634,
"aa_ref": "K",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2335,
"cdna_start": 1619,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1316,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000714077.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.1316A>C",
"hgvs_p": "p.Lys439Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519368.1",
"strand": false,
"transcript": "ENST00000714077.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 632,
"aa_ref": "K",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2828,
"cdna_start": 1619,
"cds_end": null,
"cds_length": 1899,
"cds_start": 1316,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000714084.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.1316A>C",
"hgvs_p": "p.Lys439Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519375.1",
"strand": false,
"transcript": "ENST00000714084.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 625,
"aa_ref": "K",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3082,
"cdna_start": 1619,
"cds_end": null,
"cds_length": 1878,
"cds_start": 1316,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_000118.4",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.1316A>C",
"hgvs_p": "p.Lys439Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000109.1",
"strand": false,
"transcript": "NM_000118.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 625,
"aa_ref": "K",
"aa_start": 406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2845,
"cdna_start": 1518,
"cds_end": null,
"cds_length": 1878,
"cds_start": 1217,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000886308.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.1217A>C",
"hgvs_p": "p.Lys406Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556367.1",
"strand": false,
"transcript": "ENST00000886308.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 621,
"aa_ref": "K",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2879,
"cdna_start": 1552,
"cds_end": null,
"cds_length": 1866,
"cds_start": 1205,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000886303.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.1205A>C",
"hgvs_p": "p.Lys402Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556362.1",
"strand": false,
"transcript": "ENST00000886303.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 621,
"aa_ref": "K",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2852,
"cdna_start": 1639,
"cds_end": null,
"cds_length": 1866,
"cds_start": 1316,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000942920.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.1316A>C",
"hgvs_p": "p.Lys439Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612979.1",
"strand": false,
"transcript": "ENST00000942920.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 612,
"aa_ref": "K",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2705,
"cdna_start": 1519,
"cds_end": null,
"cds_length": 1839,
"cds_start": 1316,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000942921.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.1316A>C",
"hgvs_p": "p.Lys439Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612980.1",
"strand": false,
"transcript": "ENST00000942921.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 599,
"aa_ref": "K",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2814,
"cdna_start": 1486,
"cds_end": null,
"cds_length": 1800,
"cds_start": 1139,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000886302.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.1139A>C",
"hgvs_p": "p.Lys380Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556361.1",
"strand": false,
"transcript": "ENST00000886302.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 597,
"aa_ref": "K",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2224,
"cdna_start": 1619,
"cds_end": null,
"cds_length": 1794,
"cds_start": 1316,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000714076.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.1316A>C",
"hgvs_p": "p.Lys439Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519367.1",
"strand": false,
"transcript": "ENST00000714076.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 541,
"aa_ref": "K",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2924,
"cdna_start": 1597,
"cds_end": null,
"cds_length": 1626,
"cds_start": 965,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000713957.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.965A>C",
"hgvs_p": "p.Lys322Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519250.1",
"strand": false,
"transcript": "ENST00000713957.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 490,
"aa_ref": "K",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2439,
"cdna_start": 1115,
"cds_end": null,
"cds_length": 1473,
"cds_start": 812,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000886309.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.812A>C",
"hgvs_p": "p.Lys271Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556368.1",
"strand": false,
"transcript": "ENST00000886309.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 476,
"aa_ref": "K",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2769,
"cdna_start": 1442,
"cds_end": null,
"cds_length": 1431,
"cds_start": 770,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001278138.2",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.770A>C",
"hgvs_p": "p.Lys257Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265067.1",
"strand": false,
"transcript": "NM_001278138.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 476,
"aa_ref": "K",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2809,
"cdna_start": 1478,
"cds_end": null,
"cds_length": 1431,
"cds_start": 770,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000480266.7",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.770A>C",
"hgvs_p": "p.Lys257Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000479015.1",
"strand": false,
"transcript": "ENST00000480266.7",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 476,
"aa_ref": "K",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2779,
"cdna_start": 1452,
"cds_end": null,
"cds_length": 1431,
"cds_start": 770,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000713956.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.770A>C",
"hgvs_p": "p.Lys257Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519249.1",
"strand": false,
"transcript": "ENST00000713956.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 395,
"aa_ref": "K",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2100,
"cdna_start": 756,
"cds_end": null,
"cds_length": 1188,
"cds_start": 512,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000714078.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.512A>C",
"hgvs_p": "p.Lys171Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519369.1",
"strand": false,
"transcript": "ENST00000714078.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 390,
"aa_ref": "K",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2117,
"cdna_start": 771,
"cds_end": null,
"cds_length": 1173,
"cds_start": 512,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000713995.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.512A>C",
"hgvs_p": "p.Lys171Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519285.1",
"strand": false,
"transcript": "ENST00000713995.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 390,
"aa_ref": "K",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2046,
"cdna_start": 719,
"cds_end": null,
"cds_length": 1173,
"cds_start": 512,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000714079.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.512A>C",
"hgvs_p": "p.Lys171Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519370.1",
"strand": false,
"transcript": "ENST00000714079.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 357,
"aa_ref": "K",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2177,
"cdna_start": 716,
"cds_end": null,
"cds_length": 1074,
"cds_start": 512,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000714126.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.512A>C",
"hgvs_p": "p.Lys171Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519416.1",
"strand": false,
"transcript": "ENST00000714126.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 357,
"aa_ref": "K",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2213,
"cdna_start": 753,
"cds_end": null,
"cds_length": 1074,
"cds_start": 512,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000714127.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.512A>C",
"hgvs_p": "p.Lys171Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519417.1",
"strand": false,
"transcript": "ENST00000714127.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 304,
"aa_ref": "K",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1832,
"cdna_start": 763,
"cds_end": null,
"cds_length": 915,
"cds_start": 512,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000714080.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.512A>C",
"hgvs_p": "p.Lys171Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519371.1",
"strand": false,
"transcript": "ENST00000714080.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 656,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2970,
"cdna_start": null,
"cds_end": null,
"cds_length": 1971,
"cds_start": null,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000886304.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.1312-2A>C",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556363.1",
"strand": false,
"transcript": "ENST00000886304.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 644,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2932,
"cdna_start": null,
"cds_end": null,
"cds_length": 1935,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000886305.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.1312-38A>C",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556364.1",
"strand": false,
"transcript": "ENST00000886305.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 633,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2861,
"cdna_start": null,
"cds_end": null,
"cds_length": 1902,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000886310.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.1312-71A>C",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556369.1",
"strand": false,
"transcript": "ENST00000886310.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 619,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2829,
"cdna_start": null,
"cds_end": null,
"cds_length": 1860,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000714102.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.1312-451A>C",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519394.1",
"strand": false,
"transcript": "ENST00000714102.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 560,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2650,
"cdna_start": null,
"cds_end": null,
"cds_length": 1683,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000886307.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.1135-451A>C",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556366.1",
"strand": false,
"transcript": "ENST00000886307.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 538,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2354,
"cdna_start": null,
"cds_end": null,
"cds_length": 1617,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942923.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.1311+794A>C",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612982.1",
"strand": false,
"transcript": "ENST00000942923.1",
"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": 3149,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000462196.2",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "n.*873A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519251.1",
"strand": false,
"transcript": "ENST00000462196.2",
"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": 2990,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000713996.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "n.*241A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519286.1",
"strand": false,
"transcript": "ENST00000713996.1",
"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": 4348,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000714081.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "n.*873A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519372.1",
"strand": false,
"transcript": "ENST00000714081.1",
"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": 2994,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000714083.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "n.*318A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519374.1",
"strand": false,
"transcript": "ENST00000714083.1",
"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": 1859,
"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": "ENST00000714103.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "n.512A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519395.1",
"strand": false,
"transcript": "ENST00000714103.1",
"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": 3149,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000462196.2",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "n.*873A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519251.1",
"strand": false,
"transcript": "ENST00000462196.2",
"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": 2990,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000713996.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "n.*241A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519286.1",
"strand": false,
"transcript": "ENST00000713996.1",
"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": 4348,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000714081.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "n.*873A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519372.1",
"strand": false,
"transcript": "ENST00000714081.1",
"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": 2994,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000714083.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "n.*318A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519374.1",
"strand": false,
"transcript": "ENST00000714083.1",
"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": 521,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000425991.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000225032",
"hgvs_c": "n.379+117T>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000425991.1",
"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": 2055,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000439298.5",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000225032",
"hgvs_c": "n.1568+117T>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000439298.5",
"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": 2055,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_136302.1",
"gene_hgnc_id": null,
"gene_symbol": "LOC102723566",
"hgvs_c": "n.1568+117T>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_136302.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs368533266",
"effect": "missense_variant",
"frequency_reference_population": 0.00008560698,
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"gnomad_exomes_ac": 131,
"gnomad_exomes_af": 0.0000897269,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 7,
"gnomad_genomes_af": 0.0000460429,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "Telangiectasia, hereditary hemorrhagic, type 1|not provided|Hereditary hemorrhagic telangiectasia",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.251,
"pos": 127818828,
"ref": "T",
"revel_prediction": "Benign",
"revel_score": 0.041,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001114753.3"
}
]
}