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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: 8-94176622-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=94176622&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 94176622,
"ref": "T",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000027335.8",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH17",
"gene_hgnc_id": 1756,
"hgvs_c": "c.343A>T",
"hgvs_p": "p.Lys115*",
"transcript": "NM_004063.4",
"protein_id": "NP_004054.3",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 832,
"cds_start": 343,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 436,
"cdna_end": null,
"cdna_length": 3670,
"mane_select": "ENST00000027335.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH17",
"gene_hgnc_id": 1756,
"hgvs_c": "c.343A>T",
"hgvs_p": "p.Lys115*",
"transcript": "ENST00000027335.8",
"protein_id": "ENSP00000027335.3",
"transcript_support_level": 1,
"aa_start": 115,
"aa_end": null,
"aa_length": 832,
"cds_start": 343,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 436,
"cdna_end": null,
"cdna_length": 3670,
"mane_select": "NM_004063.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH17",
"gene_hgnc_id": 1756,
"hgvs_c": "c.343A>T",
"hgvs_p": "p.Lys115*",
"transcript": "ENST00000450165.6",
"protein_id": "ENSP00000401468.2",
"transcript_support_level": 1,
"aa_start": 115,
"aa_end": null,
"aa_length": 832,
"cds_start": 343,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 469,
"cdna_end": null,
"cdna_length": 2625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH17",
"gene_hgnc_id": 1756,
"hgvs_c": "c.343A>T",
"hgvs_p": "p.Lys115*",
"transcript": "NM_001413951.1",
"protein_id": "NP_001400880.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 851,
"cds_start": 343,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 436,
"cdna_end": null,
"cdna_length": 3727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH17",
"gene_hgnc_id": 1756,
"hgvs_c": "c.343A>T",
"hgvs_p": "p.Lys115*",
"transcript": "NM_001144663.2",
"protein_id": "NP_001138135.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 832,
"cds_start": 343,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 444,
"cdna_end": null,
"cdna_length": 3678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH17",
"gene_hgnc_id": 1756,
"hgvs_c": "c.343A>T",
"hgvs_p": "p.Lys115*",
"transcript": "NM_001413952.1",
"protein_id": "NP_001400881.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 832,
"cds_start": 343,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 742,
"cdna_end": null,
"cdna_length": 3976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH17",
"gene_hgnc_id": 1756,
"hgvs_c": "c.343A>T",
"hgvs_p": "p.Lys115*",
"transcript": "NM_001413953.1",
"protein_id": "NP_001400882.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 832,
"cds_start": 343,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 538,
"cdna_end": null,
"cdna_length": 3772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH17",
"gene_hgnc_id": 1756,
"hgvs_c": "c.244A>T",
"hgvs_p": "p.Lys82*",
"transcript": "NM_001413954.1",
"protein_id": "NP_001400883.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 799,
"cds_start": 244,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 365,
"cdna_end": null,
"cdna_length": 3599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH17",
"gene_hgnc_id": 1756,
"hgvs_c": "c.343A>T",
"hgvs_p": "p.Lys115*",
"transcript": "NM_001413955.1",
"protein_id": "NP_001400884.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 794,
"cds_start": 343,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 436,
"cdna_end": null,
"cdna_length": 3556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH17",
"gene_hgnc_id": 1756,
"hgvs_c": "c.343A>T",
"hgvs_p": "p.Lys115*",
"transcript": "NM_001413956.1",
"protein_id": "NP_001400885.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 788,
"cds_start": 343,
"cds_end": null,
"cds_length": 2367,
"cdna_start": 436,
"cdna_end": null,
"cdna_length": 3538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH17",
"gene_hgnc_id": 1756,
"hgvs_c": "c.343A>T",
"hgvs_p": "p.Lys115*",
"transcript": "NM_001413957.1",
"protein_id": "NP_001400886.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 779,
"cds_start": 343,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 436,
"cdna_end": null,
"cdna_length": 3511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH17",
"gene_hgnc_id": 1756,
"hgvs_c": "c.343A>T",
"hgvs_p": "p.Lys115*",
"transcript": "NM_001413958.1",
"protein_id": "NP_001400887.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 755,
"cds_start": 343,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 436,
"cdna_end": null,
"cdna_length": 3439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH17",
"gene_hgnc_id": 1756,
"hgvs_c": "c.343A>T",
"hgvs_p": "p.Lys115*",
"transcript": "NM_001413959.1",
"protein_id": "NP_001400888.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 752,
"cds_start": 343,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 436,
"cdna_end": null,
"cdna_length": 3430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH17",
"gene_hgnc_id": 1756,
"hgvs_c": "c.343A>T",
"hgvs_p": "p.Lys115*",
"transcript": "ENST00000441892.6",
"protein_id": "ENSP00000392811.2",
"transcript_support_level": 2,
"aa_start": 115,
"aa_end": null,
"aa_length": 580,
"cds_start": 343,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 436,
"cdna_end": null,
"cdna_length": 2204,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH17",
"gene_hgnc_id": 1756,
"hgvs_c": "c.343A>T",
"hgvs_p": "p.Lys115*",
"transcript": "ENST00000521491.1",
"protein_id": "ENSP00000428189.1",
"transcript_support_level": 5,
"aa_start": 115,
"aa_end": null,
"aa_length": 146,
"cds_start": 343,
"cds_end": null,
"cds_length": 442,
"cdna_start": 538,
"cdna_end": null,
"cdna_length": 637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH17",
"gene_hgnc_id": 1756,
"hgvs_c": "n.436A>T",
"hgvs_p": null,
"transcript": "NR_182224.1",
"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": 3807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH17",
"gene_hgnc_id": 1756,
"hgvs_c": "c.-184A>T",
"hgvs_p": null,
"transcript": "NM_001413960.1",
"protein_id": "NP_001400889.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 590,
"cds_start": -4,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH17",
"gene_hgnc_id": 1756,
"hgvs_c": "c.-466A>T",
"hgvs_p": null,
"transcript": "NM_001413961.1",
"protein_id": "NP_001400890.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 443,
"cds_start": -4,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3311,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000304524",
"gene_hgnc_id": null,
"hgvs_c": "n.302-2267T>A",
"hgvs_p": null,
"transcript": "ENST00000804340.1",
"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": 477,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000304524",
"gene_hgnc_id": null,
"hgvs_c": "n.242-2267T>A",
"hgvs_p": null,
"transcript": "ENST00000804341.1",
"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": 413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CDH17",
"gene_hgnc_id": 1756,
"dbsnp": "rs2243518",
"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": 0.5199999809265137,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"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": 0.52,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 0.126,
"phylop100way_prediction": "Benign",
"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": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000027335.8",
"gene_symbol": "CDH17",
"hgnc_id": 1756,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.343A>T",
"hgvs_p": "p.Lys115*"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000804340.1",
"gene_symbol": "ENSG00000304524",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.302-2267T>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}