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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: 10-133538852-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=133538852&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 133538852,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000773.4",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2E1",
"gene_hgnc_id": 2631,
"hgvs_c": "c.1370A>T",
"hgvs_p": "p.His457Leu",
"transcript": "NM_000773.4",
"protein_id": "NP_000764.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 493,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000252945.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000773.4"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2E1",
"gene_hgnc_id": 2631,
"hgvs_c": "c.1370A>T",
"hgvs_p": "p.His457Leu",
"transcript": "ENST00000252945.8",
"protein_id": "ENSP00000252945.3",
"transcript_support_level": 1,
"aa_start": 457,
"aa_end": null,
"aa_length": 493,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000773.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000252945.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CYP2E1",
"gene_hgnc_id": 2631,
"hgvs_c": "n.1358+960A>T",
"hgvs_p": null,
"transcript": "ENST00000368520.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000368520.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2E1",
"gene_hgnc_id": 2631,
"hgvs_c": "c.1490A>T",
"hgvs_p": "p.His497Leu",
"transcript": "ENST00000883804.1",
"protein_id": "ENSP00000553863.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 533,
"cds_start": 1490,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883804.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2E1",
"gene_hgnc_id": 2631,
"hgvs_c": "c.1487A>T",
"hgvs_p": "p.His496Leu",
"transcript": "ENST00000883802.1",
"protein_id": "ENSP00000553861.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 532,
"cds_start": 1487,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883802.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2E1",
"gene_hgnc_id": 2631,
"hgvs_c": "c.1427A>T",
"hgvs_p": "p.His476Leu",
"transcript": "ENST00000883808.1",
"protein_id": "ENSP00000553867.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 512,
"cds_start": 1427,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883808.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2E1",
"gene_hgnc_id": 2631,
"hgvs_c": "c.1421A>T",
"hgvs_p": "p.His474Leu",
"transcript": "ENST00000883806.1",
"protein_id": "ENSP00000553865.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 510,
"cds_start": 1421,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883806.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2E1",
"gene_hgnc_id": 2631,
"hgvs_c": "c.1370A>T",
"hgvs_p": "p.His457Leu",
"transcript": "ENST00000463117.6",
"protein_id": "ENSP00000440689.1",
"transcript_support_level": 5,
"aa_start": 457,
"aa_end": null,
"aa_length": 493,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000463117.6"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2E1",
"gene_hgnc_id": 2631,
"hgvs_c": "c.1361A>T",
"hgvs_p": "p.His454Leu",
"transcript": "ENST00000883805.1",
"protein_id": "ENSP00000553864.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 490,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883805.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2E1",
"gene_hgnc_id": 2631,
"hgvs_c": "c.1322A>T",
"hgvs_p": "p.His441Leu",
"transcript": "ENST00000883803.1",
"protein_id": "ENSP00000553862.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 477,
"cds_start": 1322,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883803.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2E1",
"gene_hgnc_id": 2631,
"hgvs_c": "c.899A>T",
"hgvs_p": "p.His300Leu",
"transcript": "ENST00000883809.1",
"protein_id": "ENSP00000553868.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 336,
"cds_start": 899,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883809.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2E1",
"gene_hgnc_id": 2631,
"hgvs_c": "c.722A>T",
"hgvs_p": "p.His241Leu",
"transcript": "ENST00000883810.1",
"protein_id": "ENSP00000553869.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 277,
"cds_start": 722,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883810.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2E1",
"gene_hgnc_id": 2631,
"hgvs_c": "c.392A>T",
"hgvs_p": "p.His131Leu",
"transcript": "ENST00000883807.1",
"protein_id": "ENSP00000553866.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 167,
"cds_start": 392,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883807.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2E1",
"gene_hgnc_id": 2631,
"hgvs_c": "n.466A>T",
"hgvs_p": null,
"transcript": "ENST00000469258.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000469258.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2E1",
"gene_hgnc_id": 2631,
"hgvs_c": "c.*41A>T",
"hgvs_p": null,
"transcript": "ENST00000421586.5",
"protein_id": "ENSP00000412754.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 355,
"cds_start": null,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421586.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2E1",
"gene_hgnc_id": 2631,
"hgvs_c": "c.*41A>T",
"hgvs_p": null,
"transcript": "ENST00000418356.1",
"protein_id": "ENSP00000397299.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 305,
"cds_start": null,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418356.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2E1",
"gene_hgnc_id": 2631,
"hgvs_c": "n.*656A>T",
"hgvs_p": null,
"transcript": "ENST00000541080.5",
"protein_id": "ENSP00000444958.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000541080.5"
}
],
"gene_symbol": "CYP2E1",
"gene_hgnc_id": 2631,
"dbsnp": "rs28969387",
"frequency_reference_population": 0.0024137495,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3895,
"gnomad_exomes_af": 0.00134914,
"gnomad_genomes_af": 0.0126513,
"gnomad_exomes_ac": 1972,
"gnomad_genomes_ac": 1923,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.018719911575317383,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.339,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3384,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.436,
"phylop100way_prediction": "Uncertain_significance",
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Very_Strong",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 12,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "NM_000773.4",
"gene_symbol": "CYP2E1",
"hgnc_id": 2631,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1370A>T",
"hgvs_p": "p.His457Leu"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}