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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: 8-27518053-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=27518053&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 27518053,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000521400.6",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX2",
"gene_hgnc_id": 3402,
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Cys309Tyr",
"transcript": "NM_001979.6",
"protein_id": "NP_001970.2",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 555,
"cds_start": 926,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 992,
"cdna_end": null,
"cdna_length": 2776,
"mane_select": "ENST00000521400.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX2",
"gene_hgnc_id": 3402,
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Cys309Tyr",
"transcript": "ENST00000521400.6",
"protein_id": "ENSP00000430269.1",
"transcript_support_level": 1,
"aa_start": 309,
"aa_end": null,
"aa_length": 555,
"cds_start": 926,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 992,
"cdna_end": null,
"cdna_length": 2776,
"mane_select": "NM_001979.6",
"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": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX2",
"gene_hgnc_id": 3402,
"hgvs_c": "n.1010G>A",
"hgvs_p": null,
"transcript": "ENST00000520623.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX2",
"gene_hgnc_id": 3402,
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Cys309Tyr",
"transcript": "NM_001414016.1",
"protein_id": "NP_001400945.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 553,
"cds_start": 926,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 992,
"cdna_end": null,
"cdna_length": 2686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX2",
"gene_hgnc_id": 3402,
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Cys309Tyr",
"transcript": "NM_001414017.1",
"protein_id": "NP_001400946.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 550,
"cds_start": 926,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 992,
"cdna_end": null,
"cdna_length": 2439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX2",
"gene_hgnc_id": 3402,
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Cys309Tyr",
"transcript": "NM_001414018.1",
"protein_id": "NP_001400947.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 530,
"cds_start": 926,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 992,
"cdna_end": null,
"cdna_length": 2330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX2",
"gene_hgnc_id": 3402,
"hgvs_c": "c.830G>A",
"hgvs_p": "p.Cys277Tyr",
"transcript": "NM_001414019.1",
"protein_id": "NP_001400948.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 523,
"cds_start": 830,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 896,
"cdna_end": null,
"cdna_length": 2035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX2",
"gene_hgnc_id": 3402,
"hgvs_c": "c.830G>A",
"hgvs_p": "p.Cys277Tyr",
"transcript": "ENST00000518379.5",
"protein_id": "ENSP00000427956.1",
"transcript_support_level": 5,
"aa_start": 277,
"aa_end": null,
"aa_length": 523,
"cds_start": 830,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 1959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX2",
"gene_hgnc_id": 3402,
"hgvs_c": "c.803G>A",
"hgvs_p": "p.Cys268Tyr",
"transcript": "NM_001414020.1",
"protein_id": "NP_001400949.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 514,
"cds_start": 803,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 869,
"cdna_end": null,
"cdna_length": 2008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX2",
"gene_hgnc_id": 3402,
"hgvs_c": "c.767G>A",
"hgvs_p": "p.Cys256Tyr",
"transcript": "NM_001256482.2",
"protein_id": "NP_001243411.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 502,
"cds_start": 767,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 954,
"cdna_end": null,
"cdna_length": 2738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX2",
"gene_hgnc_id": 3402,
"hgvs_c": "c.767G>A",
"hgvs_p": "p.Cys256Tyr",
"transcript": "NM_001256484.2",
"protein_id": "NP_001243413.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 502,
"cds_start": 767,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 990,
"cdna_end": null,
"cdna_length": 2774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX2",
"gene_hgnc_id": 3402,
"hgvs_c": "c.767G>A",
"hgvs_p": "p.Cys256Tyr",
"transcript": "ENST00000380476.7",
"protein_id": "ENSP00000369843.3",
"transcript_support_level": 2,
"aa_start": 256,
"aa_end": null,
"aa_length": 502,
"cds_start": 767,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 931,
"cdna_end": null,
"cdna_length": 2064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX2",
"gene_hgnc_id": 3402,
"hgvs_c": "c.728G>A",
"hgvs_p": "p.Cys243Tyr",
"transcript": "NM_001256483.2",
"protein_id": "NP_001243412.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 489,
"cds_start": 728,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 907,
"cdna_end": null,
"cdna_length": 2691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX2",
"gene_hgnc_id": 3402,
"hgvs_c": "c.728G>A",
"hgvs_p": "p.Cys243Tyr",
"transcript": "ENST00000521780.5",
"protein_id": "ENSP00000430302.1",
"transcript_support_level": 2,
"aa_start": 243,
"aa_end": null,
"aa_length": 489,
"cds_start": 728,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 899,
"cdna_end": null,
"cdna_length": 2038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX2",
"gene_hgnc_id": 3402,
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Cys309Tyr",
"transcript": "NM_001414021.1",
"protein_id": "NP_001400950.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 466,
"cds_start": 926,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 992,
"cdna_end": null,
"cdna_length": 1934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX2",
"gene_hgnc_id": 3402,
"hgvs_c": "c.377G>A",
"hgvs_p": "p.Cys126Tyr",
"transcript": "ENST00000517536.5",
"protein_id": "ENSP00000428875.1",
"transcript_support_level": 5,
"aa_start": 126,
"aa_end": null,
"aa_length": 372,
"cds_start": 377,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 1600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX2",
"gene_hgnc_id": 3402,
"hgvs_c": "c.800G>A",
"hgvs_p": "p.Cys267Tyr",
"transcript": "ENST00000521684.1",
"protein_id": "ENSP00000428191.1",
"transcript_support_level": 3,
"aa_start": 267,
"aa_end": null,
"aa_length": 310,
"cds_start": 800,
"cds_end": null,
"cds_length": 933,
"cdna_start": 802,
"cdna_end": null,
"cdna_length": 935,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX2",
"gene_hgnc_id": 3402,
"hgvs_c": "n.446G>A",
"hgvs_p": null,
"transcript": "ENST00000523326.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 557,
"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": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX2",
"gene_hgnc_id": 3402,
"hgvs_c": "n.926G>A",
"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,
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"cdna_start": null,
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"cdna_length": 2063,
"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": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX2",
"gene_hgnc_id": 3402,
"hgvs_c": "n.992G>A",
"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": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX2",
"gene_hgnc_id": 3402,
"hgvs_c": "n.992G>A",
"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": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX2",
"gene_hgnc_id": 3402,
"hgvs_c": "n.992G>A",
"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
}
],
"gene_symbol": "EPHX2",
"gene_hgnc_id": 3402,
"dbsnp": "rs1220811349",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.28031378984451294,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.104,
"revel_prediction": "Benign",
"alphamissense_score": 0.2401,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.781,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000521400.6",
"gene_symbol": "EPHX2",
"hgnc_id": 3402,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Cys309Tyr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}