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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: 1-47333967-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=47333967&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 47333967,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000371873.10",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMPK1",
"gene_hgnc_id": 18170,
"hgvs_c": "c.22G>T",
"hgvs_p": "p.Gly8Trp",
"transcript": "NM_016308.3",
"protein_id": "NP_057392.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 228,
"cds_start": 22,
"cds_end": null,
"cds_length": 687,
"cdna_start": 178,
"cdna_end": null,
"cdna_length": 2937,
"mane_select": "ENST00000371873.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMPK1",
"gene_hgnc_id": 18170,
"hgvs_c": "c.22G>T",
"hgvs_p": "p.Gly8Trp",
"transcript": "ENST00000371873.10",
"protein_id": "ENSP00000360939.5",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 228,
"cds_start": 22,
"cds_end": null,
"cds_length": 687,
"cdna_start": 178,
"cdna_end": null,
"cdna_length": 2937,
"mane_select": "NM_016308.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMPK1",
"gene_hgnc_id": 18170,
"hgvs_c": "c.-75G>T",
"hgvs_p": null,
"transcript": "ENST00000699074.1",
"protein_id": "ENSP00000514113.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 209,
"cds_start": -4,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMPK1",
"gene_hgnc_id": 18170,
"hgvs_c": "c.-75G>T",
"hgvs_p": null,
"transcript": "NM_001366135.1",
"protein_id": "NP_001353064.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 196,
"cds_start": -4,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMPK1",
"gene_hgnc_id": 18170,
"hgvs_c": "c.-75G>T",
"hgvs_p": null,
"transcript": "ENST00000699075.1",
"protein_id": "ENSP00000514114.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 196,
"cds_start": -4,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMPK1",
"gene_hgnc_id": 18170,
"hgvs_c": "c.22G>T",
"hgvs_p": "p.Gly8Trp",
"transcript": "NM_001136140.2",
"protein_id": "NP_001129612.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 179,
"cds_start": 22,
"cds_end": null,
"cds_length": 540,
"cdna_start": 178,
"cdna_end": null,
"cdna_length": 2790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMPK1",
"gene_hgnc_id": 18170,
"hgvs_c": "c.22G>T",
"hgvs_p": "p.Gly8Trp",
"transcript": "ENST00000450808.2",
"protein_id": "ENSP00000398192.2",
"transcript_support_level": 2,
"aa_start": 8,
"aa_end": null,
"aa_length": 179,
"cds_start": 22,
"cds_end": null,
"cds_length": 540,
"cdna_start": 54,
"cdna_end": null,
"cdna_length": 950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMPK1",
"gene_hgnc_id": 18170,
"hgvs_c": "c.22G>T",
"hgvs_p": "p.Gly8Trp",
"transcript": "ENST00000471289.2",
"protein_id": "ENSP00000433782.1",
"transcript_support_level": 2,
"aa_start": 8,
"aa_end": null,
"aa_length": 58,
"cds_start": 22,
"cds_end": null,
"cds_length": 177,
"cdna_start": 89,
"cdna_end": null,
"cdna_length": 816,
"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": "CMPK1",
"gene_hgnc_id": 18170,
"hgvs_c": "n.27G>T",
"hgvs_p": null,
"transcript": "ENST00000371870.3",
"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": 812,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMPK1",
"gene_hgnc_id": 18170,
"hgvs_c": "n.22G>T",
"hgvs_p": null,
"transcript": "ENST00000371871.8",
"protein_id": "ENSP00000360937.4",
"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": 1212,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMPK1",
"gene_hgnc_id": 18170,
"hgvs_c": "n.178G>T",
"hgvs_p": null,
"transcript": "NR_046394.2",
"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": 2860,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMPK1",
"gene_hgnc_id": 18170,
"hgvs_c": "n.178G>T",
"hgvs_p": null,
"transcript": "NR_046395.2",
"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": 905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMPK1",
"gene_hgnc_id": 18170,
"hgvs_c": "c.-75G>T",
"hgvs_p": null,
"transcript": "ENST00000699074.1",
"protein_id": "ENSP00000514113.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 209,
"cds_start": -4,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMPK1",
"gene_hgnc_id": 18170,
"hgvs_c": "c.-75G>T",
"hgvs_p": null,
"transcript": "NM_001366135.1",
"protein_id": "NP_001353064.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 196,
"cds_start": -4,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMPK1",
"gene_hgnc_id": 18170,
"hgvs_c": "c.-75G>T",
"hgvs_p": null,
"transcript": "ENST00000699075.1",
"protein_id": "ENSP00000514114.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 196,
"cds_start": -4,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CMPK1",
"gene_hgnc_id": 18170,
"dbsnp": "rs7543016",
"frequency_reference_population": 0.0000013394268,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 7.45021e-7,
"gnomad_genomes_af": 0.0000066255,
"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": 0.12225767970085144,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.11,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.049,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000371873.10",
"gene_symbol": "CMPK1",
"hgnc_id": 18170,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.22G>T",
"hgvs_p": "p.Gly8Trp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}