← Back to variant description
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: 15-78590583-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=78590583&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 78590583,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000745.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNA5",
"gene_hgnc_id": 1959,
"hgvs_c": "c.1192G>A",
"hgvs_p": "p.Asp398Asn",
"transcript": "NM_000745.4",
"protein_id": "NP_000736.2",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 468,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000299565.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000745.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNA5",
"gene_hgnc_id": 1959,
"hgvs_c": "c.1192G>A",
"hgvs_p": "p.Asp398Asn",
"transcript": "ENST00000299565.9",
"protein_id": "ENSP00000299565.5",
"transcript_support_level": 1,
"aa_start": 398,
"aa_end": null,
"aa_length": 468,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000745.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000299565.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CHRNA5",
"gene_hgnc_id": 1959,
"hgvs_c": "c.1115+77G>A",
"hgvs_p": null,
"transcript": "NM_001395171.1",
"protein_id": "NP_001382100.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 379,
"cds_start": null,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395171.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CHRNA5",
"gene_hgnc_id": 1959,
"hgvs_c": "c.591+601G>A",
"hgvs_p": null,
"transcript": "NM_001395172.1",
"protein_id": "NP_001382101.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 250,
"cds_start": null,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395172.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CHRNA5",
"gene_hgnc_id": 1959,
"hgvs_c": "c.591+601G>A",
"hgvs_p": null,
"transcript": "ENST00000913028.1",
"protein_id": "ENSP00000583087.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 250,
"cds_start": null,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913028.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CHRNA5",
"gene_hgnc_id": 1959,
"hgvs_c": "c.713+479G>A",
"hgvs_p": null,
"transcript": "NM_001395173.1",
"protein_id": "NP_001382102.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": null,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395173.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CHRNA5",
"gene_hgnc_id": 1959,
"hgvs_c": "c.707+485G>A",
"hgvs_p": null,
"transcript": "NM_001395174.1",
"protein_id": "NP_001382103.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 243,
"cds_start": null,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395174.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CHRNA5",
"gene_hgnc_id": 1959,
"hgvs_c": "c.521+485G>A",
"hgvs_p": null,
"transcript": "ENST00000394802.4",
"protein_id": "ENSP00000378281.4",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 181,
"cds_start": null,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394802.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CHRNA5",
"gene_hgnc_id": 1959,
"hgvs_c": "c.458+734G>A",
"hgvs_p": null,
"transcript": "NM_001307945.2",
"protein_id": "NP_001294874.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 160,
"cds_start": null,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001307945.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CHRNA5",
"gene_hgnc_id": 1959,
"hgvs_c": "c.458+734G>A",
"hgvs_p": null,
"transcript": "ENST00000559554.5",
"protein_id": "ENSP00000453519.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 160,
"cds_start": null,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559554.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CHRNA5",
"gene_hgnc_id": 1959,
"hgvs_c": "c.455+734G>A",
"hgvs_p": null,
"transcript": "NM_001395175.1",
"protein_id": "NP_001382104.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 159,
"cds_start": null,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395175.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CHRNA5",
"gene_hgnc_id": 1959,
"hgvs_c": "c.143+77G>A",
"hgvs_p": null,
"transcript": "ENST00000559576.1",
"protein_id": "ENSP00000452641.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 55,
"cds_start": null,
"cds_end": null,
"cds_length": 168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559576.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000261762",
"gene_hgnc_id": null,
"hgvs_c": "n.694C>T",
"hgvs_p": null,
"transcript": "ENST00000567141.1",
"protein_id": null,
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000567141.1"
}
],
"gene_symbol": "CHRNA5",
"gene_hgnc_id": 1959,
"dbsnp": "rs16969968",
"frequency_reference_population": 0.3016012,
"hom_count_reference_population": 79728,
"allele_count_reference_population": 486724,
"gnomad_exomes_af": 0.307984,
"gnomad_genomes_af": 0.24029,
"gnomad_exomes_ac": 450162,
"gnomad_genomes_ac": 36562,
"gnomad_exomes_homalt": 73939,
"gnomad_genomes_homalt": 5789,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0011689960956573486,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.157,
"revel_prediction": "Benign",
"alphamissense_score": 0.0849,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.889,
"phylop100way_prediction": "Pathogenic",
"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": "NM_000745.4",
"gene_symbol": "CHRNA5",
"hgnc_id": 1959,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1192G>A",
"hgvs_p": "p.Asp398Asn"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000567141.1",
"gene_symbol": "ENSG00000261762",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.694C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Lung cancer susceptibility 2,SMOKING AS A QUANTITATIVE TRAIT LOCUS 3,Susceptibility to severe coronavirus disease (COVID-19) due to high levels of fibrinogen and C-reactive protein,nicotine response - Toxicity",
"clinvar_classification": "drug response",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "Lung cancer susceptibility 2|SMOKING AS A QUANTITATIVE TRAIT LOCUS 3|nicotine response - Toxicity|Susceptibility to severe coronavirus disease (COVID-19) due to high levels of fibrinogen and C-reactive protein",
"pathogenicity_classification_combined": "drug response",
"custom_annotations": null
}
],
"message": null
}