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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: 1-225844528-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=225844528&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 225844528,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000272167.10",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "c.1071C>T",
"hgvs_p": "p.Asn357Asn",
"transcript": "NM_001136018.4",
"protein_id": "NP_001129490.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 455,
"cds_start": 1071,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1122,
"cdna_end": null,
"cdna_length": 1635,
"mane_select": "ENST00000272167.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "c.1071C>T",
"hgvs_p": "p.Asn357Asn",
"transcript": "ENST00000272167.10",
"protein_id": "ENSP00000272167.5",
"transcript_support_level": 1,
"aa_start": 357,
"aa_end": null,
"aa_length": 455,
"cds_start": 1071,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1122,
"cdna_end": null,
"cdna_length": 1635,
"mane_select": "NM_001136018.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "c.1071C>T",
"hgvs_p": "p.Asn357Asn",
"transcript": "ENST00000366837.5",
"protein_id": "ENSP00000355802.4",
"transcript_support_level": 1,
"aa_start": 357,
"aa_end": null,
"aa_length": 455,
"cds_start": 1071,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1267,
"cdna_end": null,
"cdna_length": 1780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "c.1071C>T",
"hgvs_p": "p.Asn357Asn",
"transcript": "ENST00000614058.4",
"protein_id": "ENSP00000480004.1",
"transcript_support_level": 1,
"aa_start": 357,
"aa_end": null,
"aa_length": 455,
"cds_start": 1071,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1280,
"cdna_end": null,
"cdna_length": 1789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "c.1071C>T",
"hgvs_p": "p.Asn357Asn",
"transcript": "NM_000120.4",
"protein_id": "NP_000111.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 455,
"cds_start": 1071,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1267,
"cdna_end": null,
"cdna_length": 1780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "c.1071C>T",
"hgvs_p": "p.Asn357Asn",
"transcript": "NM_001291163.2",
"protein_id": "NP_001278092.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 455,
"cds_start": 1071,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1568,
"cdna_end": null,
"cdna_length": 2081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "c.1071C>T",
"hgvs_p": "p.Asn357Asn",
"transcript": "NM_001378426.1",
"protein_id": "NP_001365355.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 455,
"cds_start": 1071,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1326,
"cdna_end": null,
"cdna_length": 1839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "c.1071C>T",
"hgvs_p": "p.Asn357Asn",
"transcript": "NM_001378427.1",
"protein_id": "NP_001365356.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 455,
"cds_start": 1071,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1169,
"cdna_end": null,
"cdna_length": 1682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "c.1044C>T",
"hgvs_p": "p.Asn348Asn",
"transcript": "NM_001378428.1",
"protein_id": "NP_001365357.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 446,
"cds_start": 1044,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1240,
"cdna_end": null,
"cdna_length": 1753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "c.1023C>T",
"hgvs_p": "p.Asn341Asn",
"transcript": "NM_001378429.1",
"protein_id": "NP_001365358.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 439,
"cds_start": 1023,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 1587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "c.1023C>T",
"hgvs_p": "p.Asn341Asn",
"transcript": "NM_001378430.1",
"protein_id": "NP_001365359.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 439,
"cds_start": 1023,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 1219,
"cdna_end": null,
"cdna_length": 1732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "c.843C>T",
"hgvs_p": "p.Asn281Asn",
"transcript": "NM_001378431.1",
"protein_id": "NP_001365360.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 379,
"cds_start": 843,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 894,
"cdna_end": null,
"cdna_length": 1407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "c.504C>T",
"hgvs_p": "p.Asn168Asn",
"transcript": "NM_001378432.1",
"protein_id": "NP_001365361.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 266,
"cds_start": 504,
"cds_end": null,
"cds_length": 801,
"cdna_start": 555,
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "n.461C>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
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "n.1046C>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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "n.1459C>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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "n.1191C>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": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000242861",
"gene_hgnc_id": null,
"hgvs_c": "n.43+1952G>A",
"hgvs_p": null,
"transcript": "ENST00000424332.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "TMEM63A",
"gene_hgnc_id": 29118,
"hgvs_c": "n.2452+2310G>A",
"hgvs_p": null,
"transcript": "XR_007065257.1",
"protein_id": null,
"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,
"cdna_end": null,
"cdna_length": 3084,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "TMEM63A",
"gene_hgnc_id": 29118,
"hgvs_c": "n.2539+2310G>A",
"hgvs_p": null,
"transcript": "XR_949163.4",
"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": 3171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EPHX1",
"gene_hgnc_id": 3401,
"dbsnp": "rs1051741",
"frequency_reference_population": 0.105399005,
"hom_count_reference_population": 10119,
"allele_count_reference_population": 170118,
"gnomad_exomes_af": 0.106078,
"gnomad_genomes_af": 0.0988763,
"gnomad_exomes_ac": 155071,
"gnomad_genomes_ac": 15047,
"gnomad_exomes_homalt": 9268,
"gnomad_genomes_homalt": 851,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.38999998569488525,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.09000000357627869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.102,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.09,
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000272167.10",
"gene_symbol": "EPHX1",
"hgnc_id": 3401,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1071C>T",
"hgvs_p": "p.Asn357Asn"
},
{
"score": -18,
"benign_score": 18,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000424332.1",
"gene_symbol": "ENSG00000242861",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.43+1952G>A",
"hgvs_p": null
},
{
"score": -18,
"benign_score": 18,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "XR_949163.4",
"gene_symbol": "TMEM63A",
"hgnc_id": 29118,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "n.2539+2310G>A",
"hgvs_p": null
}
],
"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
}