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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: 8-27544447-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=27544447&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 27544447,
"ref": "A",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000521400.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX2",
"gene_hgnc_id": 3402,
"hgvs_c": "c.1593A>C",
"hgvs_p": "p.Pro531Pro",
"transcript": "NM_001979.6",
"protein_id": "NP_001970.2",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 555,
"cds_start": 1593,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 1659,
"cdna_end": null,
"cdna_length": 2776,
"mane_select": "ENST00000521400.6",
"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": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX2",
"gene_hgnc_id": 3402,
"hgvs_c": "c.1593A>C",
"hgvs_p": "p.Pro531Pro",
"transcript": "ENST00000521400.6",
"protein_id": "ENSP00000430269.1",
"transcript_support_level": 1,
"aa_start": 531,
"aa_end": null,
"aa_length": 555,
"cds_start": 1593,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 1659,
"cdna_end": null,
"cdna_length": 2776,
"mane_select": "NM_001979.6",
"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": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX2",
"gene_hgnc_id": 3402,
"hgvs_c": "c.1497A>C",
"hgvs_p": "p.Pro499Pro",
"transcript": "NM_001414019.1",
"protein_id": "NP_001400948.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 523,
"cds_start": 1497,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1563,
"cdna_end": null,
"cdna_length": 2035,
"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": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX2",
"gene_hgnc_id": 3402,
"hgvs_c": "c.1497A>C",
"hgvs_p": "p.Pro499Pro",
"transcript": "ENST00000518379.5",
"protein_id": "ENSP00000427956.1",
"transcript_support_level": 5,
"aa_start": 499,
"aa_end": null,
"aa_length": 523,
"cds_start": 1497,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1514,
"cdna_end": null,
"cdna_length": 1959,
"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": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX2",
"gene_hgnc_id": 3402,
"hgvs_c": "c.1470A>C",
"hgvs_p": "p.Pro490Pro",
"transcript": "NM_001414020.1",
"protein_id": "NP_001400949.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 514,
"cds_start": 1470,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1536,
"cdna_end": null,
"cdna_length": 2008,
"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": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX2",
"gene_hgnc_id": 3402,
"hgvs_c": "c.1434A>C",
"hgvs_p": "p.Pro478Pro",
"transcript": "NM_001256482.2",
"protein_id": "NP_001243411.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 502,
"cds_start": 1434,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1621,
"cdna_end": null,
"cdna_length": 2738,
"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": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX2",
"gene_hgnc_id": 3402,
"hgvs_c": "c.1434A>C",
"hgvs_p": "p.Pro478Pro",
"transcript": "NM_001256484.2",
"protein_id": "NP_001243413.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 502,
"cds_start": 1434,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1657,
"cdna_end": null,
"cdna_length": 2774,
"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": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX2",
"gene_hgnc_id": 3402,
"hgvs_c": "c.1434A>C",
"hgvs_p": "p.Pro478Pro",
"transcript": "ENST00000380476.7",
"protein_id": "ENSP00000369843.3",
"transcript_support_level": 2,
"aa_start": 478,
"aa_end": null,
"aa_length": 502,
"cds_start": 1434,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1598,
"cdna_end": null,
"cdna_length": 2064,
"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": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX2",
"gene_hgnc_id": 3402,
"hgvs_c": "c.1395A>C",
"hgvs_p": "p.Pro465Pro",
"transcript": "NM_001256483.2",
"protein_id": "NP_001243412.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 489,
"cds_start": 1395,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 1574,
"cdna_end": null,
"cdna_length": 2691,
"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": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX2",
"gene_hgnc_id": 3402,
"hgvs_c": "c.1395A>C",
"hgvs_p": "p.Pro465Pro",
"transcript": "ENST00000521780.5",
"protein_id": "ENSP00000430302.1",
"transcript_support_level": 2,
"aa_start": 465,
"aa_end": null,
"aa_length": 489,
"cds_start": 1395,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 1566,
"cdna_end": null,
"cdna_length": 2038,
"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": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX2",
"gene_hgnc_id": 3402,
"hgvs_c": "c.1044A>C",
"hgvs_p": "p.Pro348Pro",
"transcript": "ENST00000517536.5",
"protein_id": "ENSP00000428875.1",
"transcript_support_level": 5,
"aa_start": 348,
"aa_end": null,
"aa_length": 372,
"cds_start": 1044,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1128,
"cdna_end": null,
"cdna_length": 1600,
"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": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX2",
"gene_hgnc_id": 3402,
"hgvs_c": "n.1625A>C",
"hgvs_p": null,
"transcript": "NR_182231.1",
"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": 2097,
"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": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX2",
"gene_hgnc_id": 3402,
"hgvs_c": "n.1648A>C",
"hgvs_p": null,
"transcript": "NR_182232.1",
"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": 2120,
"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": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX2",
"gene_hgnc_id": 3402,
"hgvs_c": "n.1654A>C",
"hgvs_p": null,
"transcript": "NR_182233.1",
"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": 2126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX2",
"gene_hgnc_id": 3402,
"hgvs_c": "c.*486A>C",
"hgvs_p": null,
"transcript": "NM_001414016.1",
"protein_id": "NP_001400945.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 553,
"cds_start": -4,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX2",
"gene_hgnc_id": 3402,
"hgvs_c": "c.*199A>C",
"hgvs_p": null,
"transcript": "NM_001414018.1",
"protein_id": "NP_001400947.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 530,
"cds_start": -4,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2330,
"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": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "EPHX2",
"gene_hgnc_id": 3402,
"hgvs_c": "c.1589+203A>C",
"hgvs_p": null,
"transcript": "NM_001414017.1",
"protein_id": "NP_001400946.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 550,
"cds_start": -4,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2439,
"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": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "EPHX2",
"gene_hgnc_id": 3402,
"hgvs_c": "n.1589+203A>C",
"hgvs_p": null,
"transcript": "ENST00000850871.1",
"protein_id": "ENSP00000520956.1",
"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": 2063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EPHX2",
"gene_hgnc_id": 3402,
"dbsnp": "rs1126452",
"frequency_reference_population": 0.29187694,
"hom_count_reference_population": 75909,
"allele_count_reference_population": 470888,
"gnomad_exomes_af": 0.2824,
"gnomad_genomes_af": 0.383031,
"gnomad_exomes_ac": 412691,
"gnomad_genomes_ac": 58197,
"gnomad_exomes_homalt": 62164,
"gnomad_genomes_homalt": 13745,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9599999785423279,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.96,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.804,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000521400.6",
"gene_symbol": "EPHX2",
"hgnc_id": 3402,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1593A>C",
"hgvs_p": "p.Pro531Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}