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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: 2-171443575-GA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=171443575&ref=GA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 171443575,
"ref": "GA",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "ENST00000375255.8",
"consequences": [
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.289delA",
"hgvs_p": "p.Ile97fs",
"transcript": "NM_025000.4",
"protein_id": "NP_079276.2",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 520,
"cds_start": 289,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 641,
"cdna_end": null,
"cdna_length": 5853,
"mane_select": "ENST00000375255.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.289delA",
"hgvs_p": "p.Ile97fs",
"transcript": "ENST00000375255.8",
"protein_id": "ENSP00000364404.3",
"transcript_support_level": 1,
"aa_start": 97,
"aa_end": null,
"aa_length": 520,
"cds_start": 289,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 641,
"cdna_end": null,
"cdna_length": 5853,
"mane_select": "NM_025000.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.289delA",
"hgvs_p": "p.Ile97fs",
"transcript": "NM_001164821.2",
"protein_id": "NP_001158293.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 453,
"cds_start": 289,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 641,
"cdna_end": null,
"cdna_length": 5652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.289delA",
"hgvs_p": "p.Ile97fs",
"transcript": "ENST00000539783.5",
"protein_id": "ENSP00000442238.1",
"transcript_support_level": 5,
"aa_start": 97,
"aa_end": null,
"aa_length": 453,
"cds_start": 289,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 616,
"cdna_end": null,
"cdna_length": 5623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.289delA",
"hgvs_p": "p.Ile97fs",
"transcript": "XM_011511881.2",
"protein_id": "XP_011510183.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 509,
"cds_start": 289,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 641,
"cdna_end": null,
"cdna_length": 5820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.289delA",
"hgvs_p": "p.Ile97fs",
"transcript": "XM_011511882.2",
"protein_id": "XP_011510184.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 499,
"cds_start": 289,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 641,
"cdna_end": null,
"cdna_length": 5790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.289delA",
"hgvs_p": "p.Ile97fs",
"transcript": "XM_047445911.1",
"protein_id": "XP_047301867.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 442,
"cds_start": 289,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 641,
"cdna_end": null,
"cdna_length": 5619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.28delA",
"hgvs_p": "p.Ile10fs",
"transcript": "XM_006712768.2",
"protein_id": "XP_006712831.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 433,
"cds_start": 28,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 385,
"cdna_end": null,
"cdna_length": 5597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.289delA",
"hgvs_p": "p.Ile97fs",
"transcript": "XM_047445912.1",
"protein_id": "XP_047301868.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 432,
"cds_start": 289,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 641,
"cdna_end": null,
"cdna_length": 5589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.289delA",
"hgvs_p": "p.Ile97fs",
"transcript": "XM_017004996.2",
"protein_id": "XP_016860485.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 372,
"cds_start": 289,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 641,
"cdna_end": null,
"cdna_length": 1665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.289delA",
"hgvs_p": "p.Ile97fs",
"transcript": "XM_017004999.2",
"protein_id": "XP_016860488.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 286,
"cds_start": 289,
"cds_end": null,
"cds_length": 861,
"cdna_start": 641,
"cdna_end": null,
"cdna_length": 1301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.289delA",
"hgvs_p": "p.Ile97fs",
"transcript": "XM_017005001.3",
"protein_id": "XP_016860490.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 286,
"cds_start": 289,
"cds_end": null,
"cds_length": 861,
"cdna_start": 641,
"cdna_end": null,
"cdna_length": 1250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.289delA",
"hgvs_p": "p.Ile97fs",
"transcript": "XM_047445913.1",
"protein_id": "XP_047301869.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 286,
"cds_start": 289,
"cds_end": null,
"cds_length": 861,
"cdna_start": 641,
"cdna_end": null,
"cdna_length": 1311,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "n.202delA",
"hgvs_p": null,
"transcript": "ENST00000436317.1",
"protein_id": "ENSP00000400335.1",
"transcript_support_level": 4,
"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": 758,
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "n.217delA",
"hgvs_p": null,
"transcript": "ENST00000468592.5",
"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": 2429,
"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": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "n.445delA",
"hgvs_p": null,
"transcript": "ENST00000480855.1",
"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": 811,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "n.459delA",
"hgvs_p": null,
"transcript": "ENST00000490217.5",
"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": 708,
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "n.106delA",
"hgvs_p": null,
"transcript": "ENST00000495925.5",
"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": 322,
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "n.641delA",
"hgvs_p": null,
"transcript": "NR_028482.2",
"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": 5747,
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "n.641delA",
"hgvs_p": null,
"transcript": "XR_007082530.1",
"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": 1508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"dbsnp": "rs863224865",
"frequency_reference_population": 0.000011637284,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.0000116373,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 6.897,
"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": 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": "ENST00000375255.8",
"gene_symbol": "DCAF17",
"hgnc_id": 25784,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.289delA",
"hgvs_p": "p.Ile97fs"
}
],
"clinvar_disease": "Woodhouse-Sakati syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Woodhouse-Sakati syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}