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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: 2-27299399-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27299399&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 27299399,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_032546.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"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": "TRIM54",
"gene_hgnc_id": 16008,
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Ile166Val",
"transcript": "NM_187841.3",
"protein_id": "NP_912730.2",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 358,
"cds_start": 496,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 799,
"cdna_end": null,
"cdna_length": 1930,
"mane_select": "ENST00000380075.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_187841.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"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": "TRIM54",
"gene_hgnc_id": 16008,
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Ile166Val",
"transcript": "ENST00000380075.7",
"protein_id": "ENSP00000369415.3",
"transcript_support_level": 1,
"aa_start": 166,
"aa_end": null,
"aa_length": 358,
"cds_start": 496,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 799,
"cdna_end": null,
"cdna_length": 1930,
"mane_select": "NM_187841.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380075.7"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "TRIM54",
"gene_hgnc_id": 16008,
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Ile166Val",
"transcript": "ENST00000296098.4",
"protein_id": "ENSP00000296098.4",
"transcript_support_level": 1,
"aa_start": 166,
"aa_end": null,
"aa_length": 400,
"cds_start": 496,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 766,
"cdna_end": null,
"cdna_length": 2027,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296098.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "TRIM54",
"gene_hgnc_id": 16008,
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Ile166Val",
"transcript": "NM_032546.4",
"protein_id": "NP_115935.3",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 400,
"cds_start": 496,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 799,
"cdna_end": null,
"cdna_length": 2056,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032546.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "TRIM54",
"gene_hgnc_id": 16008,
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Ile166Val",
"transcript": "ENST00000884197.1",
"protein_id": "ENSP00000554256.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 400,
"cds_start": 496,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 804,
"cdna_end": null,
"cdna_length": 2087,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884197.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "TRIM54",
"gene_hgnc_id": 16008,
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Ile166Val",
"transcript": "ENST00000950493.1",
"protein_id": "ENSP00000620552.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 399,
"cds_start": 496,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 862,
"cdna_end": null,
"cdna_length": 2116,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950493.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "TRIM54",
"gene_hgnc_id": 16008,
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Ile166Val",
"transcript": "ENST00000950495.1",
"protein_id": "ENSP00000620554.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 368,
"cds_start": 496,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 801,
"cdna_end": null,
"cdna_length": 1961,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950495.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "TRIM54",
"gene_hgnc_id": 16008,
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Ile166Val",
"transcript": "ENST00000884194.1",
"protein_id": "ENSP00000554253.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 358,
"cds_start": 496,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 804,
"cdna_end": null,
"cdna_length": 3926,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884194.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "TRIM54",
"gene_hgnc_id": 16008,
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Ile166Val",
"transcript": "ENST00000884196.1",
"protein_id": "ENSP00000554255.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 357,
"cds_start": 496,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 804,
"cdna_end": null,
"cdna_length": 1936,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884196.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "TRIM54",
"gene_hgnc_id": 16008,
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Ile166Val",
"transcript": "ENST00000950494.1",
"protein_id": "ENSP00000620553.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 357,
"cds_start": 496,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 803,
"cdna_end": null,
"cdna_length": 1954,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950494.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "TRIM54",
"gene_hgnc_id": 16008,
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Ile166Val",
"transcript": "ENST00000884195.1",
"protein_id": "ENSP00000554254.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 352,
"cds_start": 496,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 804,
"cdna_end": null,
"cdna_length": 1921,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884195.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "TRIM54",
"gene_hgnc_id": 16008,
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Ile166Val",
"transcript": "ENST00000929727.1",
"protein_id": "ENSP00000599786.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 326,
"cds_start": 496,
"cds_end": null,
"cds_length": 981,
"cdna_start": 713,
"cdna_end": null,
"cdna_length": 1748,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929727.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "TRIM54",
"gene_hgnc_id": 16008,
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Ile166Val",
"transcript": "ENST00000884198.1",
"protein_id": "ENSP00000554257.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 325,
"cds_start": 496,
"cds_end": null,
"cds_length": 978,
"cdna_start": 799,
"cdna_end": null,
"cdna_length": 1859,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884198.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "TRIM54",
"gene_hgnc_id": 16008,
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Ile166Val",
"transcript": "ENST00000884200.1",
"protein_id": "ENSP00000554259.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 325,
"cds_start": 496,
"cds_end": null,
"cds_length": 978,
"cdna_start": 804,
"cdna_end": null,
"cdna_length": 1413,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884200.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "TRIM54",
"gene_hgnc_id": 16008,
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Ile166Val",
"transcript": "XM_024453010.1",
"protein_id": "XP_024308778.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 358,
"cds_start": 496,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 799,
"cdna_end": null,
"cdna_length": 1956,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453010.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "TRIM54",
"gene_hgnc_id": 16008,
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Ile166Val",
"transcript": "XM_024453011.2",
"protein_id": "XP_024308779.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 357,
"cds_start": 496,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 799,
"cdna_end": null,
"cdna_length": 1927,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453011.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "TRIM54",
"gene_hgnc_id": 16008,
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Ile166Val",
"transcript": "XM_024453012.2",
"protein_id": "XP_024308780.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 326,
"cds_start": 496,
"cds_end": null,
"cds_length": 981,
"cdna_start": 799,
"cdna_end": null,
"cdna_length": 1834,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453012.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TRIM54",
"gene_hgnc_id": 16008,
"hgvs_c": "c.426+70A>G",
"hgvs_p": null,
"transcript": "ENST00000884199.1",
"protein_id": "ENSP00000554258.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 329,
"cds_start": null,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1685,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884199.1"
}
],
"gene_symbol": "TRIM54",
"gene_hgnc_id": 16008,
"dbsnp": "rs147280617",
"frequency_reference_population": 0.000090466,
"hom_count_reference_population": 1,
"allele_count_reference_population": 146,
"gnomad_exomes_af": 0.0000930434,
"gnomad_genomes_af": 0.0000657108,
"gnomad_exomes_ac": 136,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10995009541511536,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.119,
"revel_prediction": "Benign",
"alphamissense_score": 0.0586,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.389,
"phylop100way_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_032546.4",
"gene_symbol": "TRIM54",
"hgnc_id": 16008,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Ile166Val"
}
],
"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
}