← 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: 9-27204929-GG-CC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=27204929&ref=GG&alt=CC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "TEK",
"hgnc_id": 11724,
"hgvs_c": "c.2228_2229delGGinsCC",
"hgvs_p": "p.Gly743Ala",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_000459.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "9",
"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": "A",
"aa_end": null,
"aa_length": 1124,
"aa_ref": "G",
"aa_start": 743,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4683,
"cdna_start": 2594,
"cds_end": null,
"cds_length": 3375,
"cds_start": 2228,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000459.5",
"gene_hgnc_id": 11724,
"gene_symbol": "TEK",
"hgvs_c": "c.2228_2229delGGinsCC",
"hgvs_p": "p.Gly743Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000380036.10",
"protein_coding": true,
"protein_id": "NP_000450.3",
"strand": true,
"transcript": "NM_000459.5",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1124,
"aa_ref": "G",
"aa_start": 743,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4683,
"cdna_start": 2594,
"cds_end": null,
"cds_length": 3375,
"cds_start": 2228,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000380036.10",
"gene_hgnc_id": 11724,
"gene_symbol": "TEK",
"hgvs_c": "c.2228_2229delGGinsCC",
"hgvs_p": "p.Gly743Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000459.5",
"protein_coding": true,
"protein_id": "ENSP00000369375.4",
"strand": true,
"transcript": "ENST00000380036.10",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1137,
"aa_ref": "G",
"aa_start": 757,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4697,
"cdna_start": 2618,
"cds_end": null,
"cds_length": 3414,
"cds_start": 2270,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000923267.1",
"gene_hgnc_id": 11724,
"gene_symbol": "TEK",
"hgvs_c": "c.2270_2271delGGinsCC",
"hgvs_p": "p.Gly757Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593326.1",
"strand": true,
"transcript": "ENST00000923267.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1123,
"aa_ref": "G",
"aa_start": 743,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4455,
"cdna_start": 2369,
"cds_end": null,
"cds_length": 3372,
"cds_start": 2228,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001375475.1",
"gene_hgnc_id": 11724,
"gene_symbol": "TEK",
"hgvs_c": "c.2228_2229delGGinsCC",
"hgvs_p": "p.Gly743Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362404.1",
"strand": true,
"transcript": "NM_001375475.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1123,
"aa_ref": "G",
"aa_start": 743,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6793,
"cdna_start": 2789,
"cds_end": null,
"cds_length": 3372,
"cds_start": 2228,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000856712.1",
"gene_hgnc_id": 11724,
"gene_symbol": "TEK",
"hgvs_c": "c.2228_2229delGGinsCC",
"hgvs_p": "p.Gly743Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526771.1",
"strand": true,
"transcript": "ENST00000856712.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1122,
"aa_ref": "G",
"aa_start": 743,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4442,
"cdna_start": 2362,
"cds_end": null,
"cds_length": 3369,
"cds_start": 2228,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000944998.1",
"gene_hgnc_id": 11724,
"gene_symbol": "TEK",
"hgvs_c": "c.2228_2229delGGinsCC",
"hgvs_p": "p.Gly743Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615057.1",
"strand": true,
"transcript": "ENST00000944998.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1119,
"aa_ref": "G",
"aa_start": 743,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4434,
"cdna_start": 2369,
"cds_end": null,
"cds_length": 3360,
"cds_start": 2228,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000856727.1",
"gene_hgnc_id": 11724,
"gene_symbol": "TEK",
"hgvs_c": "c.2228_2229delGGinsCC",
"hgvs_p": "p.Gly743Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526786.1",
"strand": true,
"transcript": "ENST00000856727.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1118,
"aa_ref": "G",
"aa_start": 743,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4465,
"cdna_start": 2403,
"cds_end": null,
"cds_length": 3357,
"cds_start": 2228,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000856720.1",
"gene_hgnc_id": 11724,
"gene_symbol": "TEK",
"hgvs_c": "c.2228_2229delGGinsCC",
"hgvs_p": "p.Gly743Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526779.1",
"strand": true,
"transcript": "ENST00000856720.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1087,
"aa_ref": "G",
"aa_start": 706,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4546,
"cdna_start": 2465,
"cds_end": null,
"cds_length": 3264,
"cds_start": 2117,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000944996.1",
"gene_hgnc_id": 11724,
"gene_symbol": "TEK",
"hgvs_c": "c.2117_2118delGGinsCC",
"hgvs_p": "p.Gly706Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615055.1",
"strand": true,
"transcript": "ENST00000944996.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1081,
"aa_ref": "G",
"aa_start": 700,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4554,
"cdna_start": 2465,
"cds_end": null,
"cds_length": 3246,
"cds_start": 2099,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001290077.2",
"gene_hgnc_id": 11724,
"gene_symbol": "TEK",
"hgvs_c": "c.2099_2100delGGinsCC",
"hgvs_p": "p.Gly700Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001277006.2",
"strand": true,
"transcript": "NM_001290077.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1081,
"aa_ref": "G",
"aa_start": 700,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3935,
"cdna_start": 2274,
"cds_end": null,
"cds_length": 3246,
"cds_start": 2099,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000406359.8",
"gene_hgnc_id": 11724,
"gene_symbol": "TEK",
"hgvs_c": "c.2099_2100delGGinsCC",
"hgvs_p": "p.Gly700Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383977.4",
"strand": true,
"transcript": "ENST00000406359.8",
"transcript_support_level": 2
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1081,
"aa_ref": "G",
"aa_start": 700,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5589,
"cdna_start": 2443,
"cds_end": null,
"cds_length": 3246,
"cds_start": 2099,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000944990.1",
"gene_hgnc_id": 11724,
"gene_symbol": "TEK",
"hgvs_c": "c.2099_2100delGGinsCC",
"hgvs_p": "p.Gly700Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615049.1",
"strand": true,
"transcript": "ENST00000944990.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1080,
"aa_ref": "G",
"aa_start": 700,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4326,
"cdna_start": 2240,
"cds_end": null,
"cds_length": 3243,
"cds_start": 2099,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001375476.1",
"gene_hgnc_id": 11724,
"gene_symbol": "TEK",
"hgvs_c": "c.2099_2100delGGinsCC",
"hgvs_p": "p.Gly700Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362405.1",
"strand": true,
"transcript": "NM_001375476.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1080,
"aa_ref": "G",
"aa_start": 700,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4662,
"cdna_start": 2576,
"cds_end": null,
"cds_length": 3243,
"cds_start": 2099,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000856713.1",
"gene_hgnc_id": 11724,
"gene_symbol": "TEK",
"hgvs_c": "c.2099_2100delGGinsCC",
"hgvs_p": "p.Gly700Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526772.1",
"strand": true,
"transcript": "ENST00000856713.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1080,
"aa_ref": "G",
"aa_start": 700,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4533,
"cdna_start": 2447,
"cds_end": null,
"cds_length": 3243,
"cds_start": 2099,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000856716.1",
"gene_hgnc_id": 11724,
"gene_symbol": "TEK",
"hgvs_c": "c.2099_2100delGGinsCC",
"hgvs_p": "p.Gly700Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526775.1",
"strand": true,
"transcript": "ENST00000856716.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1078,
"aa_ref": "G",
"aa_start": 743,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4491,
"cdna_start": 2542,
"cds_end": null,
"cds_length": 3237,
"cds_start": 2228,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000856717.1",
"gene_hgnc_id": 11724,
"gene_symbol": "TEK",
"hgvs_c": "c.2228_2229delGGinsCC",
"hgvs_p": "p.Gly743Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526776.1",
"strand": true,
"transcript": "ENST00000856717.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1078,
"aa_ref": "G",
"aa_start": 698,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4342,
"cdna_start": 2258,
"cds_end": null,
"cds_length": 3237,
"cds_start": 2093,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000944997.1",
"gene_hgnc_id": 11724,
"gene_symbol": "TEK",
"hgvs_c": "c.2093_2094delGGinsCC",
"hgvs_p": "p.Gly698Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615056.1",
"strand": true,
"transcript": "ENST00000944997.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1077,
"aa_ref": "G",
"aa_start": 743,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4561,
"cdna_start": 2613,
"cds_end": null,
"cds_length": 3234,
"cds_start": 2228,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000856715.1",
"gene_hgnc_id": 11724,
"gene_symbol": "TEK",
"hgvs_c": "c.2228_2229delGGinsCC",
"hgvs_p": "p.Gly743Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526774.1",
"strand": true,
"transcript": "ENST00000856715.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1073,
"aa_ref": "G",
"aa_start": 692,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4320,
"cdna_start": 2238,
"cds_end": null,
"cds_length": 3222,
"cds_start": 2075,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000856723.1",
"gene_hgnc_id": 11724,
"gene_symbol": "TEK",
"hgvs_c": "c.2075_2076delGGinsCC",
"hgvs_p": "p.Gly692Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526782.1",
"strand": true,
"transcript": "ENST00000856723.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1073,
"aa_ref": "G",
"aa_start": 743,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4511,
"cdna_start": 2578,
"cds_end": null,
"cds_length": 3222,
"cds_start": 2228,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000944994.1",
"gene_hgnc_id": 11724,
"gene_symbol": "TEK",
"hgvs_c": "c.2228_2229delGGinsCC",
"hgvs_p": "p.Gly743Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615053.1",
"strand": true,
"transcript": "ENST00000944994.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1069,
"aa_ref": "G",
"aa_start": 689,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4558,
"cdna_start": 2480,
"cds_end": null,
"cds_length": 3210,
"cds_start": 2066,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000923266.1",
"gene_hgnc_id": 11724,
"gene_symbol": "TEK",
"hgvs_c": "c.2066_2067delGGinsCC",
"hgvs_p": "p.Gly689Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593325.1",
"strand": true,
"transcript": "ENST00000923266.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1035,
"aa_ref": "G",
"aa_start": 700,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4207,
"cdna_start": 2264,
"cds_end": null,
"cds_length": 3108,
"cds_start": 2099,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000856722.1",
"gene_hgnc_id": 11724,
"gene_symbol": "TEK",
"hgvs_c": "c.2099_2100delGGinsCC",
"hgvs_p": "p.Gly700Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526781.1",
"strand": true,
"transcript": "ENST00000856722.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1035,
"aa_ref": "G",
"aa_start": 655,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4129,
"cdna_start": 2043,
"cds_end": null,
"cds_length": 3108,
"cds_start": 1964,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000856728.1",
"gene_hgnc_id": 11724,
"gene_symbol": "TEK",
"hgvs_c": "c.1964_1965delGGinsCC",
"hgvs_p": "p.Gly655Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526787.1",
"strand": true,
"transcript": "ENST00000856728.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1026,
"aa_ref": "G",
"aa_start": 646,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4204,
"cdna_start": 2118,
"cds_end": null,
"cds_length": 3081,
"cds_start": 1937,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000856718.1",
"gene_hgnc_id": 11724,
"gene_symbol": "TEK",
"hgvs_c": "c.1937_1938delGGinsCC",
"hgvs_p": "p.Gly646Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526777.1",
"strand": true,
"transcript": "ENST00000856718.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1025,
"aa_ref": "G",
"aa_start": 644,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4367,
"cdna_start": 2279,
"cds_end": null,
"cds_length": 3078,
"cds_start": 1931,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000944992.1",
"gene_hgnc_id": 11724,
"gene_symbol": "TEK",
"hgvs_c": "c.1931_1932delGGinsCC",
"hgvs_p": "p.Gly644Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615051.1",
"strand": true,
"transcript": "ENST00000944992.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1024,
"aa_ref": "G",
"aa_start": 644,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4165,
"cdna_start": 2072,
"cds_end": null,
"cds_length": 3075,
"cds_start": 1931,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000856724.1",
"gene_hgnc_id": 11724,
"gene_symbol": "TEK",
"hgvs_c": "c.1931_1932delGGinsCC",
"hgvs_p": "p.Gly644Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526783.1",
"strand": true,
"transcript": "ENST00000856724.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "G",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4403,
"cdna_start": 2031,
"cds_end": null,
"cds_length": 3060,
"cds_start": 1916,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000856714.1",
"gene_hgnc_id": 11724,
"gene_symbol": "TEK",
"hgvs_c": "c.1916_1917delGGinsCC",
"hgvs_p": "p.Gly639Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526773.1",
"strand": true,
"transcript": "ENST00000856714.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 981,
"aa_ref": "G",
"aa_start": 601,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4034,
"cdna_start": 1961,
"cds_end": null,
"cds_length": 2946,
"cds_start": 1802,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000856725.1",
"gene_hgnc_id": 11724,
"gene_symbol": "TEK",
"hgvs_c": "c.1802_1803delGGinsCC",
"hgvs_p": "p.Gly601Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526784.1",
"strand": true,
"transcript": "ENST00000856725.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 976,
"aa_ref": "G",
"aa_start": 596,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4239,
"cdna_start": 2153,
"cds_end": null,
"cds_length": 2931,
"cds_start": 1787,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001290078.2",
"gene_hgnc_id": 11724,
"gene_symbol": "TEK",
"hgvs_c": "c.1787_1788delGGinsCC",
"hgvs_p": "p.Gly596Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001277007.2",
"strand": true,
"transcript": "NM_001290078.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 976,
"aa_ref": "G",
"aa_start": 596,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3836,
"cdna_start": 2237,
"cds_end": null,
"cds_length": 2931,
"cds_start": 1787,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000519097.5",
"gene_hgnc_id": 11724,
"gene_symbol": "TEK",
"hgvs_c": "c.1787_1788delGGinsCC",
"hgvs_p": "p.Gly596Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430686.1",
"strand": true,
"transcript": "ENST00000519097.5",
"transcript_support_level": 2
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 944,
"aa_ref": "G",
"aa_start": 564,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3935,
"cdna_start": 1856,
"cds_end": null,
"cds_length": 2835,
"cds_start": 1691,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000856721.1",
"gene_hgnc_id": 11724,
"gene_symbol": "TEK",
"hgvs_c": "c.1691_1692delGGinsCC",
"hgvs_p": "p.Gly564Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526780.1",
"strand": true,
"transcript": "ENST00000856721.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 891,
"aa_ref": "G",
"aa_start": 510,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3789,
"cdna_start": 1700,
"cds_end": null,
"cds_length": 2676,
"cds_start": 1529,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000856719.1",
"gene_hgnc_id": 11724,
"gene_symbol": "TEK",
"hgvs_c": "c.1529_1530delGGinsCC",
"hgvs_p": "p.Gly510Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526778.1",
"strand": true,
"transcript": "ENST00000856719.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 704,
"aa_ref": "G",
"aa_start": 323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3404,
"cdna_start": 1316,
"cds_end": null,
"cds_length": 2115,
"cds_start": 968,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000944993.1",
"gene_hgnc_id": 11724,
"gene_symbol": "TEK",
"hgvs_c": "c.968_969delGGinsCC",
"hgvs_p": "p.Gly323Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615052.1",
"strand": true,
"transcript": "ENST00000944993.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 703,
"aa_ref": "G",
"aa_start": 323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3396,
"cdna_start": 1313,
"cds_end": null,
"cds_length": 2112,
"cds_start": 968,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000944995.1",
"gene_hgnc_id": 11724,
"gene_symbol": "TEK",
"hgvs_c": "c.968_969delGGinsCC",
"hgvs_p": "p.Gly323Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615054.1",
"strand": true,
"transcript": "ENST00000944995.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 608,
"aa_ref": "G",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4045,
"cdna_start": 824,
"cds_end": null,
"cds_length": 1827,
"cds_start": 683,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000944991.1",
"gene_hgnc_id": 11724,
"gene_symbol": "TEK",
"hgvs_c": "c.683_684delGGinsCC",
"hgvs_p": "p.Gly228Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615050.1",
"strand": true,
"transcript": "ENST00000944991.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 468,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4666,
"cdna_start": null,
"cds_end": null,
"cds_length": 1407,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 23,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000615002.4",
"gene_hgnc_id": 11724,
"gene_symbol": "TEK",
"hgvs_c": "c.*729_*730delGGinsCC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000480251.1",
"strand": true,
"transcript": "ENST00000615002.4",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1002,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4092,
"cdna_start": null,
"cds_end": null,
"cds_length": 3009,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000856726.1",
"gene_hgnc_id": 11724,
"gene_symbol": "TEK",
"hgvs_c": "c.2209+1810_2209+1811delGGinsCC",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526785.1",
"strand": true,
"transcript": "ENST00000856726.1",
"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": 11724,
"gene_symbol": "TEK",
"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": "Benign",
"phylop100way_score": 3.656,
"pos": 27204929,
"ref": "GG",
"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_000459.5"
}
]
}