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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: 5-132604813-T-TA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=132604813&ref=T&alt=TA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 132604813,
"ref": "T",
"alt": "TA",
"effect": "frameshift_variant",
"transcript": "ENST00000378823.8",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD50",
"gene_hgnc_id": 9816,
"hgvs_c": "c.2534dupA",
"hgvs_p": "p.Ile846fs",
"transcript": "NM_005732.4",
"protein_id": "NP_005723.2",
"transcript_support_level": null,
"aa_start": 845,
"aa_end": null,
"aa_length": 1312,
"cds_start": 2535,
"cds_end": null,
"cds_length": 3939,
"cdna_start": 2883,
"cdna_end": null,
"cdna_length": 8272,
"mane_select": "ENST00000378823.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD50",
"gene_hgnc_id": 9816,
"hgvs_c": "c.2534dupA",
"hgvs_p": "p.Ile846fs",
"transcript": "ENST00000378823.8",
"protein_id": "ENSP00000368100.4",
"transcript_support_level": 1,
"aa_start": 845,
"aa_end": null,
"aa_length": 1312,
"cds_start": 2535,
"cds_end": null,
"cds_length": 3939,
"cdna_start": 2883,
"cdna_end": null,
"cdna_length": 8272,
"mane_select": "NM_005732.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283782",
"gene_hgnc_id": null,
"hgvs_c": "c.2237dupA",
"hgvs_p": "p.Ile747fs",
"transcript": "ENST00000638452.2",
"protein_id": "ENSP00000492349.2",
"transcript_support_level": 5,
"aa_start": 746,
"aa_end": null,
"aa_length": 1213,
"cds_start": 2238,
"cds_end": null,
"cds_length": 3642,
"cdna_start": 2774,
"cdna_end": null,
"cdna_length": 7893,
"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": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD50",
"gene_hgnc_id": 9816,
"hgvs_c": "n.*2160dupA",
"hgvs_p": null,
"transcript": "ENST00000533482.5",
"protein_id": "ENSP00000431225.1",
"transcript_support_level": 1,
"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": 4373,
"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": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD50",
"gene_hgnc_id": 9816,
"hgvs_c": "n.*2160dupA",
"hgvs_p": null,
"transcript": "ENST00000533482.5",
"protein_id": "ENSP00000431225.1",
"transcript_support_level": 1,
"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": 4373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283782",
"gene_hgnc_id": null,
"hgvs_c": "c.2237dupA",
"hgvs_p": "p.Ile747fs",
"transcript": "ENST00000638568.2",
"protein_id": "ENSP00000491158.2",
"transcript_support_level": 5,
"aa_start": 746,
"aa_end": null,
"aa_length": 1213,
"cds_start": 2238,
"cds_end": null,
"cds_length": 3642,
"cdna_start": 2837,
"cdna_end": null,
"cdna_length": 7956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283782",
"gene_hgnc_id": null,
"hgvs_c": "c.2237dupA",
"hgvs_p": "p.Ile747fs",
"transcript": "ENST00000640655.2",
"protein_id": "ENSP00000491596.2",
"transcript_support_level": 5,
"aa_start": 746,
"aa_end": null,
"aa_length": 1213,
"cds_start": 2238,
"cds_end": null,
"cds_length": 3642,
"cdna_start": 2913,
"cdna_end": null,
"cdna_length": 8032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD50",
"gene_hgnc_id": 9816,
"hgvs_c": "c.2567dupA",
"hgvs_p": "p.Ile857fs",
"transcript": "ENST00000652485.1",
"protein_id": "ENSP00000498973.1",
"transcript_support_level": null,
"aa_start": 856,
"aa_end": null,
"aa_length": 893,
"cds_start": 2568,
"cds_end": null,
"cds_length": 2683,
"cdna_start": 2912,
"cdna_end": null,
"cdna_length": 3027,
"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": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD50",
"gene_hgnc_id": 9816,
"hgvs_c": "n.*720dupA",
"hgvs_p": null,
"transcript": "ENST00000423956.5",
"protein_id": "ENSP00000390971.1",
"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": 2915,
"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": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283782",
"gene_hgnc_id": null,
"hgvs_c": "n.2142dupA",
"hgvs_p": null,
"transcript": "ENST00000638504.1",
"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": 7262,
"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": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283782",
"gene_hgnc_id": null,
"hgvs_c": "n.3053dupA",
"hgvs_p": null,
"transcript": "ENST00000639899.1",
"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": 8173,
"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": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD50",
"gene_hgnc_id": 9816,
"hgvs_c": "n.*678dupA",
"hgvs_p": null,
"transcript": "ENST00000651160.1",
"protein_id": "ENSP00000498829.1",
"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": 3449,
"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": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD50",
"gene_hgnc_id": 9816,
"hgvs_c": "n.*2617dupA",
"hgvs_p": null,
"transcript": "ENST00000651723.1",
"protein_id": "ENSP00000498237.1",
"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": 3471,
"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": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD50",
"gene_hgnc_id": 9816,
"hgvs_c": "n.*751dupA",
"hgvs_p": null,
"transcript": "ENST00000652016.1",
"protein_id": "ENSP00000498267.1",
"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": 3134,
"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": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD50",
"gene_hgnc_id": 9816,
"hgvs_c": "n.*720dupA",
"hgvs_p": null,
"transcript": "ENST00000423956.5",
"protein_id": "ENSP00000390971.1",
"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": 2915,
"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": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD50",
"gene_hgnc_id": 9816,
"hgvs_c": "n.*678dupA",
"hgvs_p": null,
"transcript": "ENST00000651160.1",
"protein_id": "ENSP00000498829.1",
"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": 3449,
"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": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD50",
"gene_hgnc_id": 9816,
"hgvs_c": "n.*2617dupA",
"hgvs_p": null,
"transcript": "ENST00000651723.1",
"protein_id": "ENSP00000498237.1",
"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": 3471,
"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": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD50",
"gene_hgnc_id": 9816,
"hgvs_c": "n.*751dupA",
"hgvs_p": null,
"transcript": "ENST00000652016.1",
"protein_id": "ENSP00000498267.1",
"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": 3134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RAD50",
"gene_hgnc_id": 9816,
"dbsnp": "rs1281337925",
"frequency_reference_population": 0.0000013733339,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000137333,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"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": 0.029999999329447746,
"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": 8.863,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.03,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000378823.8",
"gene_symbol": "RAD50",
"hgnc_id": 9816,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2534dupA",
"hgvs_p": "p.Ile846fs"
},
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000638452.2",
"gene_symbol": "ENSG00000283782",
"hgnc_id": null,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2237dupA",
"hgvs_p": "p.Ile747fs"
}
],
"clinvar_disease": "Hereditary cancer-predisposing syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "Hereditary cancer-predisposing syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}