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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 1-23393938-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=23393938&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TCEA3",
"hgnc_id": 11615,
"hgvs_c": "c.760C>G",
"hgvs_p": "p.Arg254Gly",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_003196.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.9633,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.08,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.838062047958374,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 348,
"aa_ref": "R",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1719,
"cdna_start": 875,
"cds_end": null,
"cds_length": 1047,
"cds_start": 760,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_003196.3",
"gene_hgnc_id": 11615,
"gene_symbol": "TCEA3",
"hgvs_c": "c.760C>G",
"hgvs_p": "p.Arg254Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000450454.7",
"protein_coding": true,
"protein_id": "NP_003187.1",
"strand": false,
"transcript": "NM_003196.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 348,
"aa_ref": "R",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1719,
"cdna_start": 875,
"cds_end": null,
"cds_length": 1047,
"cds_start": 760,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000450454.7",
"gene_hgnc_id": 11615,
"gene_symbol": "TCEA3",
"hgvs_c": "c.760C>G",
"hgvs_p": "p.Arg254Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003196.3",
"protein_coding": true,
"protein_id": "ENSP00000406293.2",
"strand": false,
"transcript": "ENST00000450454.7",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 351,
"aa_ref": "R",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1674,
"cdna_start": 760,
"cds_end": null,
"cds_length": 1056,
"cds_start": 760,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000476978.3",
"gene_hgnc_id": 11615,
"gene_symbol": "TCEA3",
"hgvs_c": "c.760C>G",
"hgvs_p": "p.Arg254Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000474530.3",
"strand": false,
"transcript": "ENST00000476978.3",
"transcript_support_level": 3
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 438,
"aa_ref": "R",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1554,
"cdna_start": 1176,
"cds_end": null,
"cds_length": 1317,
"cds_start": 1030,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000898825.1",
"gene_hgnc_id": 11615,
"gene_symbol": "TCEA3",
"hgvs_c": "c.1030C>G",
"hgvs_p": "p.Arg344Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568884.1",
"strand": false,
"transcript": "ENST00000898825.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 417,
"aa_ref": "R",
"aa_start": 323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1748,
"cdna_start": 1058,
"cds_end": null,
"cds_length": 1254,
"cds_start": 967,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000898823.1",
"gene_hgnc_id": 11615,
"gene_symbol": "TCEA3",
"hgvs_c": "c.967C>G",
"hgvs_p": "p.Arg323Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568882.1",
"strand": false,
"transcript": "ENST00000898823.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 348,
"aa_ref": "R",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2250,
"cdna_start": 906,
"cds_end": null,
"cds_length": 1047,
"cds_start": 760,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000898818.1",
"gene_hgnc_id": 11615,
"gene_symbol": "TCEA3",
"hgvs_c": "c.760C>G",
"hgvs_p": "p.Arg254Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568877.1",
"strand": false,
"transcript": "ENST00000898818.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 348,
"aa_ref": "R",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3758,
"cdna_start": 918,
"cds_end": null,
"cds_length": 1047,
"cds_start": 760,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000941055.1",
"gene_hgnc_id": 11615,
"gene_symbol": "TCEA3",
"hgvs_c": "c.760C>G",
"hgvs_p": "p.Arg254Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611114.1",
"strand": false,
"transcript": "ENST00000941055.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 348,
"aa_ref": "R",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1311,
"cdna_start": 906,
"cds_end": null,
"cds_length": 1047,
"cds_start": 760,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000941056.1",
"gene_hgnc_id": 11615,
"gene_symbol": "TCEA3",
"hgvs_c": "c.760C>G",
"hgvs_p": "p.Arg254Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611115.1",
"strand": false,
"transcript": "ENST00000941056.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 347,
"aa_ref": "R",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1600,
"cdna_start": 909,
"cds_end": null,
"cds_length": 1044,
"cds_start": 757,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000941057.1",
"gene_hgnc_id": 11615,
"gene_symbol": "TCEA3",
"hgvs_c": "c.757C>G",
"hgvs_p": "p.Arg253Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611116.1",
"strand": false,
"transcript": "ENST00000941057.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 347,
"aa_ref": "R",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1240,
"cdna_start": 885,
"cds_end": null,
"cds_length": 1044,
"cds_start": 760,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000941061.1",
"gene_hgnc_id": 11615,
"gene_symbol": "TCEA3",
"hgvs_c": "c.760C>G",
"hgvs_p": "p.Arg254Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611120.1",
"strand": false,
"transcript": "ENST00000941061.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 346,
"aa_ref": "R",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1283,
"cdna_start": 905,
"cds_end": null,
"cds_length": 1041,
"cds_start": 760,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000941059.1",
"gene_hgnc_id": 11615,
"gene_symbol": "TCEA3",
"hgvs_c": "c.760C>G",
"hgvs_p": "p.Arg254Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611118.1",
"strand": false,
"transcript": "ENST00000941059.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 327,
"aa_ref": "R",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2052,
"cdna_start": 1233,
"cds_end": null,
"cds_length": 984,
"cds_start": 697,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000898819.1",
"gene_hgnc_id": 11615,
"gene_symbol": "TCEA3",
"hgvs_c": "c.697C>G",
"hgvs_p": "p.Arg233Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568878.1",
"strand": false,
"transcript": "ENST00000898819.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 327,
"aa_ref": "R",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1545,
"cdna_start": 854,
"cds_end": null,
"cds_length": 984,
"cds_start": 697,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000898820.1",
"gene_hgnc_id": 11615,
"gene_symbol": "TCEA3",
"hgvs_c": "c.697C>G",
"hgvs_p": "p.Arg233Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568879.1",
"strand": false,
"transcript": "ENST00000898820.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 324,
"aa_ref": "R",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1500,
"cdna_start": 881,
"cds_end": null,
"cds_length": 975,
"cds_start": 760,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000898822.1",
"gene_hgnc_id": 11615,
"gene_symbol": "TCEA3",
"hgvs_c": "c.760C>G",
"hgvs_p": "p.Arg254Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568881.1",
"strand": false,
"transcript": "ENST00000898822.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 318,
"aa_ref": "R",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1134,
"cdna_start": 846,
"cds_end": null,
"cds_length": 957,
"cds_start": 760,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000898826.1",
"gene_hgnc_id": 11615,
"gene_symbol": "TCEA3",
"hgvs_c": "c.760C>G",
"hgvs_p": "p.Arg254Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568885.1",
"strand": false,
"transcript": "ENST00000898826.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 312,
"aa_ref": "R",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1144,
"cdna_start": 874,
"cds_end": null,
"cds_length": 939,
"cds_start": 760,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000941060.1",
"gene_hgnc_id": 11615,
"gene_symbol": "TCEA3",
"hgvs_c": "c.760C>G",
"hgvs_p": "p.Arg254Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611119.1",
"strand": false,
"transcript": "ENST00000941060.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 306,
"aa_ref": "R",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1164,
"cdna_start": 779,
"cds_end": null,
"cds_length": 921,
"cds_start": 634,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000941058.1",
"gene_hgnc_id": 11615,
"gene_symbol": "TCEA3",
"hgvs_c": "c.634C>G",
"hgvs_p": "p.Arg212Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611117.1",
"strand": false,
"transcript": "ENST00000941058.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 299,
"aa_ref": "R",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1152,
"cdna_start": 912,
"cds_end": null,
"cds_length": 900,
"cds_start": 760,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000898824.1",
"gene_hgnc_id": 11615,
"gene_symbol": "TCEA3",
"hgvs_c": "c.760C>G",
"hgvs_p": "p.Arg254Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568883.1",
"strand": false,
"transcript": "ENST00000898824.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 487,
"aa_ref": "R",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1820,
"cdna_start": 875,
"cds_end": null,
"cds_length": 1464,
"cds_start": 760,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_017002200.3",
"gene_hgnc_id": 11615,
"gene_symbol": "TCEA3",
"hgvs_c": "c.760C>G",
"hgvs_p": "p.Arg254Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016857689.1",
"strand": false,
"transcript": "XM_017002200.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 466,
"aa_ref": "R",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1757,
"cdna_start": 812,
"cds_end": null,
"cds_length": 1401,
"cds_start": 697,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_017002201.2",
"gene_hgnc_id": 11615,
"gene_symbol": "TCEA3",
"hgvs_c": "c.697C>G",
"hgvs_p": "p.Arg233Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016857690.1",
"strand": false,
"transcript": "XM_017002201.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 466,
"aa_ref": "R",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1757,
"cdna_start": 812,
"cds_end": null,
"cds_length": 1401,
"cds_start": 697,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_017002202.3",
"gene_hgnc_id": 11615,
"gene_symbol": "TCEA3",
"hgvs_c": "c.697C>G",
"hgvs_p": "p.Arg233Gly",
"intron_rank": null,
"intron_rank_end": null,
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