← Back to variant description
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: 20-46725817-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=46725817&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 46725817,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000359271.4",
"consequences": [
{
"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": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.781G>A",
"hgvs_p": "p.Val261Ile",
"transcript": "NM_030777.4",
"protein_id": "NP_110404.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 541,
"cds_start": 781,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 869,
"cdna_end": null,
"cdna_length": 4227,
"mane_select": "ENST00000359271.4",
"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": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.781G>A",
"hgvs_p": "p.Val261Ile",
"transcript": "ENST00000359271.4",
"protein_id": "ENSP00000352216.2",
"transcript_support_level": 1,
"aa_start": 261,
"aa_end": null,
"aa_length": 541,
"cds_start": 781,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 869,
"cdna_end": null,
"cdna_length": 4227,
"mane_select": "NM_030777.4",
"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": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Val282Ile",
"transcript": "XM_011529060.3",
"protein_id": "XP_011527362.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 562,
"cds_start": 844,
"cds_end": null,
"cds_length": 1689,
"cdna_start": 1011,
"cdna_end": null,
"cdna_length": 4369,
"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": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.790G>A",
"hgvs_p": "p.Val264Ile",
"transcript": "XM_011529061.3",
"protein_id": "XP_011527363.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 544,
"cds_start": 790,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 5751,
"cdna_end": null,
"cdna_length": 9109,
"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": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Val282Ile",
"transcript": "XM_047440528.1",
"protein_id": "XP_047296484.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 535,
"cds_start": 844,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1011,
"cdna_end": null,
"cdna_length": 1777,
"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": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Val282Ile",
"transcript": "XM_011529062.3",
"protein_id": "XP_011527364.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 533,
"cds_start": 844,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1011,
"cdna_end": null,
"cdna_length": 4282,
"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": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Val282Ile",
"transcript": "XM_011529063.3",
"protein_id": "XP_011527365.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 532,
"cds_start": 844,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1011,
"cdna_end": null,
"cdna_length": 2100,
"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": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.781G>A",
"hgvs_p": "p.Val261Ile",
"transcript": "XM_047440529.1",
"protein_id": "XP_047296485.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 512,
"cds_start": 781,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 869,
"cdna_end": null,
"cdna_length": 4140,
"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": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Val282Ile",
"transcript": "XM_011529064.3",
"protein_id": "XP_011527366.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 507,
"cds_start": 844,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1011,
"cdna_end": null,
"cdna_length": 1778,
"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": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Val282Ile",
"transcript": "XM_011529065.3",
"protein_id": "XP_011527367.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 494,
"cds_start": 844,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 1011,
"cdna_end": null,
"cdna_length": 4233,
"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": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.781G>A",
"hgvs_p": "p.Val261Ile",
"transcript": "XM_017028087.3",
"protein_id": "XP_016883576.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 473,
"cds_start": 781,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 869,
"cdna_end": null,
"cdna_length": 4091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC2A10",
"gene_hgnc_id": 13444,
"dbsnp": "rs372561968",
"frequency_reference_population": 0.00014434055,
"hom_count_reference_population": 0,
"allele_count_reference_population": 233,
"gnomad_exomes_af": 0.000140231,
"gnomad_genomes_af": 0.000183775,
"gnomad_exomes_ac": 205,
"gnomad_genomes_ac": 28,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.45099589228630066,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.384,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0995,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.624,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000359271.4",
"gene_symbol": "SLC2A10",
"hgnc_id": 13444,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.781G>A",
"hgvs_p": "p.Val261Ile"
}
],
"clinvar_disease": "Arterial tortuosity syndrome,Familial thoracic aortic aneurysm and aortic dissection,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:5",
"phenotype_combined": "Arterial tortuosity syndrome|Familial thoracic aortic aneurysm and aortic dissection|not provided|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}