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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: 17-63489061-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=63489061&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 63489061,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000290866.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.2570G>A",
"hgvs_p": "p.Arg857His",
"transcript": "NM_000789.4",
"protein_id": "NP_000780.1",
"transcript_support_level": null,
"aa_start": 857,
"aa_end": null,
"aa_length": 1306,
"cds_start": 2570,
"cds_end": null,
"cds_length": 3921,
"cdna_start": 2604,
"cdna_end": null,
"cdna_length": 4962,
"mane_select": "ENST00000290866.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.2570G>A",
"hgvs_p": "p.Arg857His",
"transcript": "ENST00000290866.10",
"protein_id": "ENSP00000290866.4",
"transcript_support_level": 1,
"aa_start": 857,
"aa_end": null,
"aa_length": 1306,
"cds_start": 2570,
"cds_end": null,
"cds_length": 3921,
"cdna_start": 2604,
"cdna_end": null,
"cdna_length": 4962,
"mane_select": "NM_000789.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.848G>A",
"hgvs_p": "p.Arg283His",
"transcript": "ENST00000290863.10",
"protein_id": "ENSP00000290863.6",
"transcript_support_level": 1,
"aa_start": 283,
"aa_end": null,
"aa_length": 732,
"cds_start": 848,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 876,
"cdna_end": null,
"cdna_length": 2479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000264813",
"gene_hgnc_id": null,
"hgvs_c": "n.848G>A",
"hgvs_p": null,
"transcript": "ENST00000577647.2",
"protein_id": "ENSP00000464149.1",
"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": 4862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.2570G>A",
"hgvs_p": "p.Arg857His",
"transcript": "ENST00000428043.5",
"protein_id": "ENSP00000397593.2",
"transcript_support_level": 2,
"aa_start": 857,
"aa_end": null,
"aa_length": 1242,
"cds_start": 2570,
"cds_end": null,
"cds_length": 3729,
"cdna_start": 2604,
"cdna_end": null,
"cdna_length": 5120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.2003G>A",
"hgvs_p": "p.Arg668His",
"transcript": "NM_001382700.1",
"protein_id": "NP_001369629.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 1117,
"cds_start": 2003,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 2272,
"cdna_end": null,
"cdna_length": 4630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.1718G>A",
"hgvs_p": "p.Arg573His",
"transcript": "NM_001382701.1",
"protein_id": "NP_001369630.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 1022,
"cds_start": 1718,
"cds_end": null,
"cds_length": 3069,
"cdna_start": 2366,
"cdna_end": null,
"cdna_length": 4724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.848G>A",
"hgvs_p": "p.Arg283His",
"transcript": "NM_152830.3",
"protein_id": "NP_690043.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 732,
"cds_start": 848,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 870,
"cdna_end": null,
"cdna_length": 3228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.848G>A",
"hgvs_p": "p.Arg283His",
"transcript": "NM_001178057.2",
"protein_id": "NP_001171528.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 691,
"cds_start": 848,
"cds_end": null,
"cds_length": 2076,
"cdna_start": 870,
"cdna_end": null,
"cdna_length": 3105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.848G>A",
"hgvs_p": "p.Arg283His",
"transcript": "ENST00000413513.7",
"protein_id": "ENSP00000392247.3",
"transcript_support_level": 2,
"aa_start": 283,
"aa_end": null,
"aa_length": 691,
"cds_start": 848,
"cds_end": null,
"cds_length": 2076,
"cdna_start": 870,
"cdna_end": null,
"cdna_length": 2237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.338G>A",
"hgvs_p": "p.Arg113His",
"transcript": "ENST00000582761.1",
"protein_id": "ENSP00000462909.1",
"transcript_support_level": 3,
"aa_start": 113,
"aa_end": null,
"aa_length": 281,
"cds_start": 338,
"cds_end": null,
"cds_length": 846,
"cdna_start": 338,
"cdna_end": null,
"cdna_length": 846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.500G>A",
"hgvs_p": "p.Arg167His",
"transcript": "XM_006721737.4",
"protein_id": "XP_006721800.3",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 616,
"cds_start": 500,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 3131,
"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": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "n.*299G>A",
"hgvs_p": null,
"transcript": "ENST00000579314.5",
"protein_id": "ENSP00000462599.1",
"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": 2551,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "n.*490G>A",
"hgvs_p": null,
"transcript": "ENST00000582005.5",
"protein_id": "ENSP00000462002.1",
"transcript_support_level": 5,
"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": 982,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "n.516G>A",
"hgvs_p": null,
"transcript": "ENST00000584865.5",
"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": 1080,
"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": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "n.948G>A",
"hgvs_p": null,
"transcript": "NR_168483.1",
"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": 3306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "n.*299G>A",
"hgvs_p": null,
"transcript": "ENST00000579314.5",
"protein_id": "ENSP00000462599.1",
"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": 2551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "n.*490G>A",
"hgvs_p": null,
"transcript": "ENST00000582005.5",
"protein_id": "ENSP00000462002.1",
"transcript_support_level": 5,
"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": 982,
"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": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.379+270G>A",
"hgvs_p": null,
"transcript": "NM_001382702.1",
"protein_id": "NP_001369631.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 511,
"cds_start": -4,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2816,
"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": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "n.*519+270G>A",
"hgvs_p": null,
"transcript": "ENST00000578839.5",
"protein_id": "ENSP00000462110.2",
"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": 1881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "n.*718G>A",
"hgvs_p": null,
"transcript": "ENST00000579204.1",
"protein_id": "ENSP00000464629.1",
"transcript_support_level": 5,
"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": 808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"dbsnp": "rs146089353",
"frequency_reference_population": 0.00008984815,
"hom_count_reference_population": 0,
"allele_count_reference_population": 145,
"gnomad_exomes_af": 0.0000964671,
"gnomad_genomes_af": 0.0000262819,
"gnomad_exomes_ac": 141,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8565354943275452,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.759,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8252,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.17,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.148,
"phylop100way_prediction": "Pathogenic",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000290866.10",
"gene_symbol": "ACE",
"hgnc_id": 2707,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.2570G>A",
"hgvs_p": "p.Arg857His"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000577647.2",
"gene_symbol": "ENSG00000264813",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.848G>A",
"hgvs_p": null
}
],
"clinvar_disease": " 3, intracerebral, susceptibility to,Hemorrhage,Microvascular complications of diabetes,Renal tubular dysgenesis of genetic origin",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Renal tubular dysgenesis of genetic origin;Hemorrhage, intracerebral, susceptibility to;Microvascular complications of diabetes, susceptibility to, 3|Renal tubular dysgenesis of genetic origin",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}