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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: 17-63490953-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=63490953&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 63490953,
"ref": "G",
"alt": "A",
"effect": "splice_acceptor_variant,intron_variant",
"transcript": "ENST00000290866.10",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.2642-1G>A",
"hgvs_p": null,
"transcript": "NM_000789.4",
"protein_id": "NP_000780.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1306,
"cds_start": -4,
"cds_end": null,
"cds_length": 3921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4962,
"mane_select": "ENST00000290866.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.2642-1G>A",
"hgvs_p": null,
"transcript": "ENST00000290866.10",
"protein_id": "ENSP00000290866.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1306,
"cds_start": -4,
"cds_end": null,
"cds_length": 3921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4962,
"mane_select": "NM_000789.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.920-1G>A",
"hgvs_p": null,
"transcript": "ENST00000290863.10",
"protein_id": "ENSP00000290863.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 732,
"cds_start": -4,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"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": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ENSG00000264813",
"gene_hgnc_id": null,
"hgvs_c": "n.920-1G>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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "n.606G>A",
"hgvs_p": null,
"transcript": "ENST00000583645.1",
"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": 888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.2642-1G>A",
"hgvs_p": null,
"transcript": "ENST00000428043.5",
"protein_id": "ENSP00000397593.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1242,
"cds_start": -4,
"cds_end": null,
"cds_length": 3729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.2075-1G>A",
"hgvs_p": null,
"transcript": "NM_001382700.1",
"protein_id": "NP_001369629.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1117,
"cds_start": -4,
"cds_end": null,
"cds_length": 3354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.1790-1G>A",
"hgvs_p": null,
"transcript": "NM_001382701.1",
"protein_id": "NP_001369630.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1022,
"cds_start": -4,
"cds_end": null,
"cds_length": 3069,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.920-1G>A",
"hgvs_p": null,
"transcript": "NM_152830.3",
"protein_id": "NP_690043.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 732,
"cds_start": -4,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.920-1G>A",
"hgvs_p": null,
"transcript": "NM_001178057.2",
"protein_id": "NP_001171528.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 691,
"cds_start": -4,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.920-1G>A",
"hgvs_p": null,
"transcript": "ENST00000413513.7",
"protein_id": "ENSP00000392247.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 691,
"cds_start": -4,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"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.380-1G>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": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.410-1G>A",
"hgvs_p": null,
"transcript": "ENST00000582761.1",
"protein_id": "ENSP00000462909.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 281,
"cds_start": -4,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 846,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "n.146+925G>A",
"hgvs_p": null,
"transcript": "ENST00000577418.5",
"protein_id": null,
"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": 728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"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.*520-1G>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": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "n.*371-1G>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": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "n.588-1G>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": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "n.1020-1G>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": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"hgvs_c": "c.572-1G>A",
"hgvs_p": null,
"transcript": "XM_006721737.4",
"protein_id": "XP_006721800.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 616,
"cds_start": -4,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ACE",
"gene_hgnc_id": 2707,
"dbsnp": "rs778390161",
"frequency_reference_population": 0.0000012391512,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84088e-7,
"gnomad_genomes_af": 0.00000656996,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.23000000417232513,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.9340000152587891,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.23,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.79,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.96,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.999986675681007,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000290866.10",
"gene_symbol": "ACE",
"hgnc_id": 2707,
"effects": [
"splice_acceptor_variant",
"intron_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.2642-1G>A",
"hgvs_p": null
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000577647.2",
"gene_symbol": "ENSG00000264813",
"hgnc_id": null,
"effects": [
"splice_acceptor_variant",
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.920-1G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Renal tubular dysgenesis",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Renal tubular dysgenesis",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}