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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: 1-225839958-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=225839958&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 225839958,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000272167.10",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "c.852C>T",
"hgvs_p": "p.Pro284Pro",
"transcript": "NM_001136018.4",
"protein_id": "NP_001129490.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 455,
"cds_start": 852,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 1635,
"mane_select": "ENST00000272167.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "c.852C>T",
"hgvs_p": "p.Pro284Pro",
"transcript": "ENST00000272167.10",
"protein_id": "ENSP00000272167.5",
"transcript_support_level": 1,
"aa_start": 284,
"aa_end": null,
"aa_length": 455,
"cds_start": 852,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 1635,
"mane_select": "NM_001136018.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "c.852C>T",
"hgvs_p": "p.Pro284Pro",
"transcript": "ENST00000366837.5",
"protein_id": "ENSP00000355802.4",
"transcript_support_level": 1,
"aa_start": 284,
"aa_end": null,
"aa_length": 455,
"cds_start": 852,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1048,
"cdna_end": null,
"cdna_length": 1780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "c.852C>T",
"hgvs_p": "p.Pro284Pro",
"transcript": "ENST00000614058.4",
"protein_id": "ENSP00000480004.1",
"transcript_support_level": 1,
"aa_start": 284,
"aa_end": null,
"aa_length": 455,
"cds_start": 852,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1061,
"cdna_end": null,
"cdna_length": 1789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "c.852C>T",
"hgvs_p": "p.Pro284Pro",
"transcript": "NM_000120.4",
"protein_id": "NP_000111.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 455,
"cds_start": 852,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1048,
"cdna_end": null,
"cdna_length": 1780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "c.852C>T",
"hgvs_p": "p.Pro284Pro",
"transcript": "NM_001291163.2",
"protein_id": "NP_001278092.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 455,
"cds_start": 852,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1349,
"cdna_end": null,
"cdna_length": 2081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "c.852C>T",
"hgvs_p": "p.Pro284Pro",
"transcript": "NM_001378426.1",
"protein_id": "NP_001365355.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 455,
"cds_start": 852,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1107,
"cdna_end": null,
"cdna_length": 1839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "c.852C>T",
"hgvs_p": "p.Pro284Pro",
"transcript": "NM_001378427.1",
"protein_id": "NP_001365356.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 455,
"cds_start": 852,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 950,
"cdna_end": null,
"cdna_length": 1682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "c.825C>T",
"hgvs_p": "p.Pro275Pro",
"transcript": "NM_001378428.1",
"protein_id": "NP_001365357.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 446,
"cds_start": 825,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1021,
"cdna_end": null,
"cdna_length": 1753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "c.852C>T",
"hgvs_p": "p.Pro284Pro",
"transcript": "NM_001378429.1",
"protein_id": "NP_001365358.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 439,
"cds_start": 852,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 1587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "c.852C>T",
"hgvs_p": "p.Pro284Pro",
"transcript": "NM_001378430.1",
"protein_id": "NP_001365359.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 439,
"cds_start": 852,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 1048,
"cdna_end": null,
"cdna_length": 1732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "c.624C>T",
"hgvs_p": "p.Pro208Pro",
"transcript": "NM_001378431.1",
"protein_id": "NP_001365360.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 379,
"cds_start": 624,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 675,
"cdna_end": null,
"cdna_length": 1407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "n.827C>T",
"hgvs_p": null,
"transcript": "NR_165625.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "n.1349C>T",
"hgvs_p": null,
"transcript": "NR_165626.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "n.972C>T",
"hgvs_p": null,
"transcript": "NR_165627.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "c.365-2408C>T",
"hgvs_p": null,
"transcript": "NM_001378432.1",
"protein_id": "NP_001365361.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 266,
"cds_start": -4,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "n.370-2456C>T",
"hgvs_p": null,
"transcript": "NR_165624.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EPHX1",
"gene_hgnc_id": 3401,
"dbsnp": "rs2292568",
"frequency_reference_population": 0.046703506,
"hom_count_reference_population": 2264,
"allele_count_reference_population": 75386,
"gnomad_exomes_af": 0.0467778,
"gnomad_genomes_af": 0.0459901,
"gnomad_exomes_ac": 68383,
"gnomad_genomes_ac": 7003,
"gnomad_exomes_homalt": 2037,
"gnomad_genomes_homalt": 227,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6800000071525574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.066,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000272167.10",
"gene_symbol": "EPHX1",
"hgnc_id": 3401,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.852C>T",
"hgvs_p": "p.Pro284Pro"
}
],
"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
}