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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 8-66152378-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=66152378&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP6",
"BA1"
],
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"gene_symbol": "TRIM55",
"hgnc_id": 14215,
"hgvs_c": "c.987A>G",
"hgvs_p": "p.Glu329Glu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_184085.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BA1",
"acmg_score": -13,
"allele_count_reference_population": 6672,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.57,
"chr": "8",
"clinvar_classification": "Benign",
"clinvar_disease": "TRIM55-related disorder",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5699999928474426,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 548,
"aa_ref": "E",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2679,
"cdna_start": 1127,
"cds_end": null,
"cds_length": 1647,
"cds_start": 987,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_184085.2",
"gene_hgnc_id": 14215,
"gene_symbol": "TRIM55",
"hgvs_c": "c.987A>G",
"hgvs_p": "p.Glu329Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000315962.9",
"protein_coding": true,
"protein_id": "NP_908973.1",
"strand": true,
"transcript": "NM_184085.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 548,
"aa_ref": "E",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2679,
"cdna_start": 1127,
"cds_end": null,
"cds_length": 1647,
"cds_start": 987,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000315962.9",
"gene_hgnc_id": 14215,
"gene_symbol": "TRIM55",
"hgvs_c": "c.987A>G",
"hgvs_p": "p.Glu329Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_184085.2",
"protein_coding": true,
"protein_id": "ENSP00000323913.4",
"strand": true,
"transcript": "ENST00000315962.9",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 540,
"aa_ref": "E",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1960,
"cdna_start": 1213,
"cds_end": null,
"cds_length": 1623,
"cds_start": 987,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000276573.11",
"gene_hgnc_id": 14215,
"gene_symbol": "TRIM55",
"hgvs_c": "c.987A>G",
"hgvs_p": "p.Glu329Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000276573.7",
"strand": true,
"transcript": "ENST00000276573.11",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 452,
"aa_ref": "E",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2624,
"cdna_start": 1360,
"cds_end": null,
"cds_length": 1359,
"cds_start": 987,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000353317.9",
"gene_hgnc_id": 14215,
"gene_symbol": "TRIM55",
"hgvs_c": "c.987A>G",
"hgvs_p": "p.Glu329Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000297348.8",
"strand": true,
"transcript": "ENST00000353317.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 241,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1177,
"cdna_start": null,
"cds_end": null,
"cds_length": 726,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000350034.4",
"gene_hgnc_id": 14215,
"gene_symbol": "TRIM55",
"hgvs_c": "c.603+15188A>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000332302.4",
"strand": true,
"transcript": "ENST00000350034.4",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 540,
"aa_ref": "E",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2767,
"cdna_start": 1127,
"cds_end": null,
"cds_length": 1623,
"cds_start": 987,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_033058.3",
"gene_hgnc_id": 14215,
"gene_symbol": "TRIM55",
"hgvs_c": "c.987A>G",
"hgvs_p": "p.Glu329Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_149047.2",
"strand": true,
"transcript": "NM_033058.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 516,
"aa_ref": "E",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2622,
"cdna_start": 1074,
"cds_end": null,
"cds_length": 1551,
"cds_start": 891,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000956548.1",
"gene_hgnc_id": 14215,
"gene_symbol": "TRIM55",
"hgvs_c": "c.891A>G",
"hgvs_p": "p.Glu297Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626607.1",
"strand": true,
"transcript": "ENST00000956548.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 452,
"aa_ref": "E",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2391,
"cdna_start": 1127,
"cds_end": null,
"cds_length": 1359,
"cds_start": 987,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_184086.2",
"gene_hgnc_id": 14215,
"gene_symbol": "TRIM55",
"hgvs_c": "c.987A>G",
"hgvs_p": "p.Glu329Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_908974.1",
"strand": true,
"transcript": "NM_184086.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 429,
"aa_ref": "E",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2199,
"cdna_start": 932,
"cds_end": null,
"cds_length": 1290,
"cds_start": 918,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000956551.1",
"gene_hgnc_id": 14215,
"gene_symbol": "TRIM55",
"hgvs_c": "c.918A>G",
"hgvs_p": "p.Glu306Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626610.1",
"strand": true,
"transcript": "ENST00000956551.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 420,
"aa_ref": "E",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2338,
"cdna_start": 1074,
"cds_end": null,
"cds_length": 1263,
"cds_start": 891,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000857326.1",
"gene_hgnc_id": 14215,
"gene_symbol": "TRIM55",
"hgvs_c": "c.891A>G",
"hgvs_p": "p.Glu297Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527385.1",
"strand": true,
"transcript": "ENST00000857326.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 374,
"aa_ref": "E",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1454,
"cdna_start": 852,
"cds_end": null,
"cds_length": 1125,
"cds_start": 753,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000956552.1",
"gene_hgnc_id": 14215,
"gene_symbol": "TRIM55",
"hgvs_c": "c.753A>G",
"hgvs_p": "p.Glu251Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626611.1",
"strand": true,
"transcript": "ENST00000956552.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 479,
"aa_ref": "E",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2684,
"cdna_start": 1132,
"cds_end": null,
"cds_length": 1440,
"cds_start": 780,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_017013908.2",
"gene_hgnc_id": 14215,
"gene_symbol": "TRIM55",
"hgvs_c": "c.780A>G",
"hgvs_p": "p.Glu260Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016869397.1",
"strand": true,
"transcript": "XM_017013908.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 426,
"aa_ref": "E",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2662,
"cdna_start": 1110,
"cds_end": null,
"cds_length": 1281,
"cds_start": 621,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011517617.3",
"gene_hgnc_id": 14215,
"gene_symbol": "TRIM55",
"hgvs_c": "c.621A>G",
"hgvs_p": "p.Glu207Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011515919.1",
"strand": true,
"transcript": "XM_011517617.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 547,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2680,
"cdna_start": null,
"cds_end": null,
"cds_length": 1644,
"cds_start": null,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000857327.1",
"gene_hgnc_id": 14215,
"gene_symbol": "TRIM55",
"hgvs_c": "c.986-2A>G",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527386.1",
"strand": true,
"transcript": "ENST00000857327.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 515,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2559,
"cdna_start": null,
"cds_end": null,
"cds_length": 1548,
"cds_start": null,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000956550.1",
"gene_hgnc_id": 14215,
"gene_symbol": "TRIM55",
"hgvs_c": "c.890-2A>G",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626609.1",
"strand": true,
"transcript": "ENST00000956550.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 451,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2435,
"cdna_start": null,
"cds_end": null,
"cds_length": 1356,
"cds_start": null,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000857325.1",
"gene_hgnc_id": 14215,
"gene_symbol": "TRIM55",
"hgvs_c": "c.986-2A>G",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527384.1",
"strand": true,
"transcript": "ENST00000857325.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 419,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2288,
"cdna_start": null,
"cds_end": null,
"cds_length": 1260,
"cds_start": null,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000956549.1",
"gene_hgnc_id": 14215,
"gene_symbol": "TRIM55",
"hgvs_c": "c.890-2A>G",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626608.1",
"strand": true,
"transcript": "ENST00000956549.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 241,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1758,
"cdna_start": null,
"cds_end": null,
"cds_length": 726,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_184087.2",
"gene_hgnc_id": 14215,
"gene_symbol": "TRIM55",
"hgvs_c": "c.603+15188A>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_908975.1",
"strand": true,
"transcript": "NM_184087.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 547,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2676,
"cdna_start": null,
"cds_end": null,
"cds_length": 1644,
"cds_start": null,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005251316.5",
"gene_hgnc_id": 14215,
"gene_symbol": "TRIM55",
"hgvs_c": "c.986-2A>G",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005251373.1",
"strand": true,
"transcript": "XM_005251316.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 451,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2388,
"cdna_start": null,
"cds_end": null,
"cds_length": 1356,
"cds_start": null,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_024447308.1",
"gene_hgnc_id": 14215,
"gene_symbol": "TRIM55",
"hgvs_c": "c.986-2A>G",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024303076.1",
"strand": true,
"transcript": "XM_024447308.1",
"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": 865,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
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}