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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: 10-104275312-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=104275312&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 104275312,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000338595.7",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTO2",
"gene_hgnc_id": 23064,
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Val41Ile",
"transcript": "NM_183239.2",
"protein_id": "NP_899062.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 243,
"cds_start": 121,
"cds_end": null,
"cds_length": 732,
"cdna_start": 438,
"cdna_end": null,
"cdna_length": 6715,
"mane_select": "ENST00000338595.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTO2",
"gene_hgnc_id": 23064,
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Val41Ile",
"transcript": "ENST00000338595.7",
"protein_id": "ENSP00000345023.1",
"transcript_support_level": 1,
"aa_start": 41,
"aa_end": null,
"aa_length": 243,
"cds_start": 121,
"cds_end": null,
"cds_length": 732,
"cdna_start": 438,
"cdna_end": null,
"cdna_length": 6715,
"mane_select": "NM_183239.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTO2",
"gene_hgnc_id": 23064,
"hgvs_c": "c.37G>A",
"hgvs_p": "p.Val13Ile",
"transcript": "ENST00000369707.2",
"protein_id": "ENSP00000358721.1",
"transcript_support_level": 1,
"aa_start": 13,
"aa_end": null,
"aa_length": 215,
"cds_start": 37,
"cds_end": null,
"cds_length": 648,
"cdna_start": 151,
"cdna_end": null,
"cdna_length": 6423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTO2",
"gene_hgnc_id": 23064,
"hgvs_c": "c.37G>A",
"hgvs_p": "p.Val13Ile",
"transcript": "NM_001191014.2",
"protein_id": "NP_001177943.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 215,
"cds_start": 37,
"cds_end": null,
"cds_length": 648,
"cdna_start": 147,
"cdna_end": null,
"cdna_length": 6424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTO2",
"gene_hgnc_id": 23064,
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Val41Ile",
"transcript": "NM_001191013.2",
"protein_id": "NP_001177942.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 209,
"cds_start": 121,
"cds_end": null,
"cds_length": 630,
"cdna_start": 438,
"cdna_end": null,
"cdna_length": 6613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTO2",
"gene_hgnc_id": 23064,
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Val41Ile",
"transcript": "ENST00000450629.6",
"protein_id": "ENSP00000390986.2",
"transcript_support_level": 5,
"aa_start": 41,
"aa_end": null,
"aa_length": 209,
"cds_start": 121,
"cds_end": null,
"cds_length": 630,
"cdna_start": 749,
"cdna_end": null,
"cdna_length": 1391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTO2",
"gene_hgnc_id": 23064,
"hgvs_c": "c.37G>A",
"hgvs_p": "p.Val13Ile",
"transcript": "NM_001191015.2",
"protein_id": "NP_001177944.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 181,
"cds_start": 37,
"cds_end": null,
"cds_length": 546,
"cdna_start": 147,
"cdna_end": null,
"cdna_length": 6322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTO2",
"gene_hgnc_id": 23064,
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Val41Ile",
"transcript": "XM_047424577.1",
"protein_id": "XP_047280533.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 183,
"cds_start": 121,
"cds_end": null,
"cds_length": 552,
"cdna_start": 141,
"cdna_end": null,
"cdna_length": 6311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTO2",
"gene_hgnc_id": 23064,
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Val41Ile",
"transcript": "XM_011539272.4",
"protein_id": "XP_011537574.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 166,
"cds_start": 121,
"cds_end": null,
"cds_length": 501,
"cdna_start": 141,
"cdna_end": null,
"cdna_length": 3227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTO2",
"gene_hgnc_id": 23064,
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Val41Ile",
"transcript": "XM_047424578.1",
"protein_id": "XP_047280534.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 149,
"cds_start": 121,
"cds_end": null,
"cds_length": 450,
"cdna_start": 141,
"cdna_end": null,
"cdna_length": 6209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTO2",
"gene_hgnc_id": 23064,
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Val41Ile",
"transcript": "XM_017015671.2",
"protein_id": "XP_016871160.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 132,
"cds_start": 121,
"cds_end": null,
"cds_length": 399,
"cdna_start": 141,
"cdna_end": null,
"cdna_length": 1512,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GSTO2",
"gene_hgnc_id": 23064,
"hgvs_c": "n.52+363G>A",
"hgvs_p": null,
"transcript": "ENST00000473401.5",
"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": 669,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GSTO2",
"gene_hgnc_id": 23064,
"hgvs_c": "n.30+363G>A",
"hgvs_p": null,
"transcript": "ENST00000477078.2",
"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": 763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GSTO2",
"gene_hgnc_id": 23064,
"dbsnp": "rs34400162",
"frequency_reference_population": 0.00044239123,
"hom_count_reference_population": 5,
"allele_count_reference_population": 714,
"gnomad_exomes_af": 0.00031059,
"gnomad_genomes_af": 0.00170805,
"gnomad_exomes_ac": 454,
"gnomad_genomes_ac": 260,
"gnomad_exomes_homalt": 5,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.014940410852432251,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.147,
"revel_prediction": "Benign",
"alphamissense_score": 0.1292,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.473,
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000338595.7",
"gene_symbol": "GSTO2",
"hgnc_id": 23064,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Val41Ile"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}