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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: 6-151348740-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=151348740&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 151348740,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000402676.7",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP12",
"gene_hgnc_id": 370,
"hgvs_c": "c.349A>G",
"hgvs_p": "p.Lys117Glu",
"transcript": "NM_005100.4",
"protein_id": "NP_005091.2",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 1782,
"cds_start": 349,
"cds_end": null,
"cds_length": 5349,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 8466,
"mane_select": "ENST00000402676.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP12",
"gene_hgnc_id": 370,
"hgvs_c": "c.349A>G",
"hgvs_p": "p.Lys117Glu",
"transcript": "ENST00000402676.7",
"protein_id": "ENSP00000384537.2",
"transcript_support_level": 5,
"aa_start": 117,
"aa_end": null,
"aa_length": 1782,
"cds_start": 349,
"cds_end": null,
"cds_length": 5349,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 8466,
"mane_select": "NM_005100.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP12",
"gene_hgnc_id": 370,
"hgvs_c": "c.349A>G",
"hgvs_p": "p.Lys117Glu",
"transcript": "ENST00000253332.5",
"protein_id": "ENSP00000253332.1",
"transcript_support_level": 1,
"aa_start": 117,
"aa_end": null,
"aa_length": 1782,
"cds_start": 349,
"cds_end": null,
"cds_length": 5349,
"cdna_start": 538,
"cdna_end": null,
"cdna_length": 6597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP12",
"gene_hgnc_id": 370,
"hgvs_c": "c.55A>G",
"hgvs_p": "p.Lys19Glu",
"transcript": "ENST00000354675.10",
"protein_id": "ENSP00000346702.6",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 1684,
"cds_start": 55,
"cds_end": null,
"cds_length": 5055,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 6287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP12",
"gene_hgnc_id": 370,
"hgvs_c": "c.34A>G",
"hgvs_p": "p.Lys12Glu",
"transcript": "ENST00000359755.5",
"protein_id": "ENSP00000352794.5",
"transcript_support_level": 1,
"aa_start": 12,
"aa_end": null,
"aa_length": 1677,
"cds_start": 34,
"cds_end": null,
"cds_length": 5034,
"cdna_start": 131,
"cdna_end": null,
"cdna_length": 6190,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP12",
"gene_hgnc_id": 370,
"hgvs_c": "n.115A>G",
"hgvs_p": null,
"transcript": "ENST00000490177.1",
"protein_id": null,
"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": 561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP12",
"gene_hgnc_id": 370,
"hgvs_c": "c.55A>G",
"hgvs_p": "p.Lys19Glu",
"transcript": "NM_144497.2",
"protein_id": "NP_653080.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1684,
"cds_start": 55,
"cds_end": null,
"cds_length": 5055,
"cdna_start": 385,
"cdna_end": null,
"cdna_length": 8230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP12",
"gene_hgnc_id": 370,
"hgvs_c": "c.34A>G",
"hgvs_p": "p.Lys12Glu",
"transcript": "NM_001370346.1",
"protein_id": "NP_001357275.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1677,
"cds_start": 34,
"cds_end": null,
"cds_length": 5034,
"cdna_start": 111,
"cdna_end": null,
"cdna_length": 7956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP12",
"gene_hgnc_id": 370,
"hgvs_c": "c.349A>G",
"hgvs_p": "p.Lys117Glu",
"transcript": "XM_017011517.3",
"protein_id": "XP_016867006.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 1782,
"cds_start": 349,
"cds_end": null,
"cds_length": 5349,
"cdna_start": 587,
"cdna_end": null,
"cdna_length": 8432,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP12",
"gene_hgnc_id": 370,
"hgvs_c": "c.-21A>G",
"hgvs_p": null,
"transcript": "XM_047419579.1",
"protein_id": "XP_047275535.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1659,
"cds_start": -4,
"cds_end": null,
"cds_length": 4980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AKAP12",
"gene_hgnc_id": 370,
"dbsnp": "rs10872670",
"frequency_reference_population": 0.77437747,
"hom_count_reference_population": 474860,
"allele_count_reference_population": 1232033,
"gnomad_exomes_af": 0.775954,
"gnomad_genomes_af": 0.758805,
"gnomad_exomes_ac": 1121038,
"gnomad_genomes_ac": 110995,
"gnomad_exomes_homalt": 432837,
"gnomad_genomes_homalt": 42023,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 7.879140184741118e-7,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.042,
"revel_prediction": "Benign",
"alphamissense_score": 0.0537,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.442,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000402676.7",
"gene_symbol": "AKAP12",
"hgnc_id": 370,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.349A>G",
"hgvs_p": "p.Lys117Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}