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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: 6-7577818-GA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=7577818&ref=GA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 7577818,
"ref": "GA",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "ENST00000379802.8",
"consequences": [
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "c.2920delA",
"hgvs_p": "p.Thr974fs",
"transcript": "NM_004415.4",
"protein_id": "NP_004406.2",
"transcript_support_level": null,
"aa_start": 974,
"aa_end": null,
"aa_length": 2871,
"cds_start": 2920,
"cds_end": null,
"cds_length": 8616,
"cdna_start": 3165,
"cdna_end": null,
"cdna_length": 9697,
"mane_select": "ENST00000379802.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "c.2920delA",
"hgvs_p": "p.Thr974fs",
"transcript": "ENST00000379802.8",
"protein_id": "ENSP00000369129.3",
"transcript_support_level": 1,
"aa_start": 974,
"aa_end": null,
"aa_length": 2871,
"cds_start": 2920,
"cds_end": null,
"cds_length": 8616,
"cdna_start": 3165,
"cdna_end": null,
"cdna_length": 9697,
"mane_select": "NM_004415.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "c.2920delA",
"hgvs_p": "p.Thr974fs",
"transcript": "ENST00000418664.3",
"protein_id": "ENSP00000396591.2",
"transcript_support_level": 1,
"aa_start": 974,
"aa_end": null,
"aa_length": 2272,
"cds_start": 2920,
"cds_end": null,
"cds_length": 6819,
"cdna_start": 3510,
"cdna_end": null,
"cdna_length": 8248,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "c.2794delA",
"hgvs_p": "p.Thr932fs",
"transcript": "ENST00000713904.1",
"protein_id": "ENSP00000519203.1",
"transcript_support_level": null,
"aa_start": 932,
"aa_end": null,
"aa_length": 2829,
"cds_start": 2794,
"cds_end": null,
"cds_length": 8490,
"cdna_start": 5064,
"cdna_end": null,
"cdna_length": 11596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "c.2920delA",
"hgvs_p": "p.Thr974fs",
"transcript": "NM_001319034.2",
"protein_id": "NP_001305963.1",
"transcript_support_level": null,
"aa_start": 974,
"aa_end": null,
"aa_length": 2428,
"cds_start": 2920,
"cds_end": null,
"cds_length": 7287,
"cdna_start": 3165,
"cdna_end": null,
"cdna_length": 8368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "c.2920delA",
"hgvs_p": "p.Thr974fs",
"transcript": "ENST00000710359.2",
"protein_id": "ENSP00000518230.1",
"transcript_support_level": null,
"aa_start": 974,
"aa_end": null,
"aa_length": 2428,
"cds_start": 2920,
"cds_end": null,
"cds_length": 7287,
"cdna_start": 3498,
"cdna_end": null,
"cdna_length": 8700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "c.2920delA",
"hgvs_p": "p.Thr974fs",
"transcript": "NM_001008844.3",
"protein_id": "NP_001008844.1",
"transcript_support_level": null,
"aa_start": 974,
"aa_end": null,
"aa_length": 2272,
"cds_start": 2920,
"cds_end": null,
"cds_length": 6819,
"cdna_start": 3165,
"cdna_end": null,
"cdna_length": 7900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "c.2920delA",
"hgvs_p": "p.Thr974fs",
"transcript": "ENST00000713909.1",
"protein_id": "ENSP00000519208.1",
"transcript_support_level": null,
"aa_start": 974,
"aa_end": null,
"aa_length": 2106,
"cds_start": 2920,
"cds_end": null,
"cds_length": 6321,
"cdna_start": 3389,
"cdna_end": null,
"cdna_length": 7486,
"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": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "n.*2399delA",
"hgvs_p": null,
"transcript": "ENST00000713869.1",
"protein_id": "ENSP00000519174.1",
"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": 9736,
"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": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "n.*1971delA",
"hgvs_p": null,
"transcript": "ENST00000713903.1",
"protein_id": "ENSP00000519202.1",
"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": 8072,
"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": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "n.*1971delA",
"hgvs_p": null,
"transcript": "ENST00000713912.1",
"protein_id": "ENSP00000519211.1",
"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": 9662,
"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": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "n.2920delA",
"hgvs_p": null,
"transcript": "ENST00000713913.1",
"protein_id": "ENSP00000519212.1",
"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": 9633,
"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": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "n.*2640delA",
"hgvs_p": null,
"transcript": "ENST00000713924.1",
"protein_id": "ENSP00000519221.1",
"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": 9546,
"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": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "n.*2399delA",
"hgvs_p": null,
"transcript": "ENST00000713869.1",
"protein_id": "ENSP00000519174.1",
"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": 9736,
"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": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "n.*1971delA",
"hgvs_p": null,
"transcript": "ENST00000713903.1",
"protein_id": "ENSP00000519202.1",
"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": 8072,
"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": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "n.*1971delA",
"hgvs_p": null,
"transcript": "ENST00000713912.1",
"protein_id": "ENSP00000519211.1",
"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": 9662,
"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": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "n.*2640delA",
"hgvs_p": null,
"transcript": "ENST00000713924.1",
"protein_id": "ENSP00000519221.1",
"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": 9546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"dbsnp": "rs727505260",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"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": 0.019999999552965164,
"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": 7.145,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": "ENST00000379802.8",
"gene_symbol": "DSP",
"hgnc_id": 3052,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2920delA",
"hgvs_p": "p.Thr974fs"
}
],
"clinvar_disease": "Arrhythmogenic right ventricular cardiomyopathy",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Arrhythmogenic right ventricular cardiomyopathy",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}