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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: 8-66135141-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=66135141&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 66135141,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_184085.2",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM55",
"gene_hgnc_id": 14215,
"hgvs_c": "c.493T>C",
"hgvs_p": "p.Phe165Leu",
"transcript": "NM_184085.2",
"protein_id": "NP_908973.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 548,
"cds_start": 493,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 2679,
"mane_select": "ENST00000315962.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_184085.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM55",
"gene_hgnc_id": 14215,
"hgvs_c": "c.493T>C",
"hgvs_p": "p.Phe165Leu",
"transcript": "ENST00000315962.9",
"protein_id": "ENSP00000323913.4",
"transcript_support_level": 1,
"aa_start": 165,
"aa_end": null,
"aa_length": 548,
"cds_start": 493,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 2679,
"mane_select": "NM_184085.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000315962.9"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM55",
"gene_hgnc_id": 14215,
"hgvs_c": "c.493T>C",
"hgvs_p": "p.Phe165Leu",
"transcript": "ENST00000276573.11",
"protein_id": "ENSP00000276573.7",
"transcript_support_level": 1,
"aa_start": 165,
"aa_end": null,
"aa_length": 540,
"cds_start": 493,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 719,
"cdna_end": null,
"cdna_length": 1960,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000276573.11"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM55",
"gene_hgnc_id": 14215,
"hgvs_c": "c.493T>C",
"hgvs_p": "p.Phe165Leu",
"transcript": "ENST00000353317.9",
"protein_id": "ENSP00000297348.8",
"transcript_support_level": 1,
"aa_start": 165,
"aa_end": null,
"aa_length": 452,
"cds_start": 493,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 866,
"cdna_end": null,
"cdna_length": 2624,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353317.9"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM55",
"gene_hgnc_id": 14215,
"hgvs_c": "c.493T>C",
"hgvs_p": "p.Phe165Leu",
"transcript": "ENST00000350034.4",
"protein_id": "ENSP00000332302.4",
"transcript_support_level": 1,
"aa_start": 165,
"aa_end": null,
"aa_length": 241,
"cds_start": 493,
"cds_end": null,
"cds_length": 726,
"cdna_start": 719,
"cdna_end": null,
"cdna_length": 1177,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000350034.4"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM55",
"gene_hgnc_id": 14215,
"hgvs_c": "c.493T>C",
"hgvs_p": "p.Phe165Leu",
"transcript": "ENST00000857327.1",
"protein_id": "ENSP00000527386.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 547,
"cds_start": 493,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 2680,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857327.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM55",
"gene_hgnc_id": 14215,
"hgvs_c": "c.493T>C",
"hgvs_p": "p.Phe165Leu",
"transcript": "NM_033058.3",
"protein_id": "NP_149047.2",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 540,
"cds_start": 493,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 2767,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033058.3"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM55",
"gene_hgnc_id": 14215,
"hgvs_c": "c.493T>C",
"hgvs_p": "p.Phe165Leu",
"transcript": "ENST00000956548.1",
"protein_id": "ENSP00000626607.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 516,
"cds_start": 493,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 2622,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956548.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM55",
"gene_hgnc_id": 14215,
"hgvs_c": "c.493T>C",
"hgvs_p": "p.Phe165Leu",
"transcript": "ENST00000956550.1",
"protein_id": "ENSP00000626609.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 515,
"cds_start": 493,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 616,
"cdna_end": null,
"cdna_length": 2559,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956550.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM55",
"gene_hgnc_id": 14215,
"hgvs_c": "c.493T>C",
"hgvs_p": "p.Phe165Leu",
"transcript": "NM_184086.2",
"protein_id": "NP_908974.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 452,
"cds_start": 493,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 2391,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_184086.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM55",
"gene_hgnc_id": 14215,
"hgvs_c": "c.493T>C",
"hgvs_p": "p.Phe165Leu",
"transcript": "ENST00000857325.1",
"protein_id": "ENSP00000527384.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 451,
"cds_start": 493,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 678,
"cdna_end": null,
"cdna_length": 2435,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857325.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM55",
"gene_hgnc_id": 14215,
"hgvs_c": "c.493T>C",
"hgvs_p": "p.Phe165Leu",
"transcript": "ENST00000956551.1",
"protein_id": "ENSP00000626610.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 429,
"cds_start": 493,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 2199,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956551.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM55",
"gene_hgnc_id": 14215,
"hgvs_c": "c.493T>C",
"hgvs_p": "p.Phe165Leu",
"transcript": "ENST00000857326.1",
"protein_id": "ENSP00000527385.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 420,
"cds_start": 493,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 2338,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857326.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM55",
"gene_hgnc_id": 14215,
"hgvs_c": "c.493T>C",
"hgvs_p": "p.Phe165Leu",
"transcript": "ENST00000956549.1",
"protein_id": "ENSP00000626608.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 419,
"cds_start": 493,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 2288,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956549.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM55",
"gene_hgnc_id": 14215,
"hgvs_c": "c.493T>C",
"hgvs_p": "p.Phe165Leu",
"transcript": "ENST00000956552.1",
"protein_id": "ENSP00000626611.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 374,
"cds_start": 493,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 592,
"cdna_end": null,
"cdna_length": 1454,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956552.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM55",
"gene_hgnc_id": 14215,
"hgvs_c": "c.493T>C",
"hgvs_p": "p.Phe165Leu",
"transcript": "NM_184087.2",
"protein_id": "NP_908975.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 241,
"cds_start": 493,
"cds_end": null,
"cds_length": 726,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 1758,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_184087.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM55",
"gene_hgnc_id": 14215,
"hgvs_c": "c.493T>C",
"hgvs_p": "p.Phe165Leu",
"transcript": "XM_005251316.5",
"protein_id": "XP_005251373.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 547,
"cds_start": 493,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 2676,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005251316.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM55",
"gene_hgnc_id": 14215,
"hgvs_c": "c.286T>C",
"hgvs_p": "p.Phe96Leu",
"transcript": "XM_017013908.2",
"protein_id": "XP_016869397.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 479,
"cds_start": 286,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 638,
"cdna_end": null,
"cdna_length": 2684,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_017013908.2"
},
{
"aa_ref": "F",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM55",
"gene_hgnc_id": 14215,
"hgvs_c": "c.493T>C",
"hgvs_p": "p.Phe165Leu",
"transcript": "XM_024447308.1",
"protein_id": "XP_024303076.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 451,
"cds_start": 493,
"cds_end": null,
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"cdna_start": 633,
"cdna_end": null,
"cdna_length": 2388,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447308.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM55",
"gene_hgnc_id": 14215,
"hgvs_c": "c.127T>C",
"hgvs_p": "p.Phe43Leu",
"transcript": "XM_011517617.3",
"protein_id": "XP_011515919.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 426,
"cds_start": 127,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 616,
"cdna_end": null,
"cdna_length": 2662,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517617.3"
}
],
"gene_symbol": "TRIM55",
"gene_hgnc_id": 14215,
"dbsnp": "rs748783640",
"frequency_reference_population": 0.000042132655,
"hom_count_reference_population": 1,
"allele_count_reference_population": 68,
"gnomad_exomes_af": 0.0000430965,
"gnomad_genomes_af": 0.0000328697,
"gnomad_exomes_ac": 63,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2869453728199005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.233,
"revel_prediction": "Benign",
"alphamissense_score": 0.9719,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.991,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_184085.2",
"gene_symbol": "TRIM55",
"hgnc_id": 14215,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.493T>C",
"hgvs_p": "p.Phe165Leu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}