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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: 4-83470246-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=83470246&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 83470246,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000321945.12",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABRAXAS1",
"gene_hgnc_id": 25829,
"hgvs_c": "c.433T>C",
"hgvs_p": "p.Ser145Pro",
"transcript": "NM_139076.3",
"protein_id": "NP_620775.2",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 409,
"cds_start": 433,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 4210,
"mane_select": "ENST00000321945.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABRAXAS1",
"gene_hgnc_id": 25829,
"hgvs_c": "c.433T>C",
"hgvs_p": "p.Ser145Pro",
"transcript": "ENST00000321945.12",
"protein_id": "ENSP00000369857.3",
"transcript_support_level": 1,
"aa_start": 145,
"aa_end": null,
"aa_length": 409,
"cds_start": 433,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 4210,
"mane_select": "NM_139076.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABRAXAS1",
"gene_hgnc_id": 25829,
"hgvs_c": "c.88T>C",
"hgvs_p": "p.Ser30Pro",
"transcript": "ENST00000611288.4",
"protein_id": "ENSP00000482434.1",
"transcript_support_level": 5,
"aa_start": 30,
"aa_end": null,
"aa_length": 198,
"cds_start": 88,
"cds_end": null,
"cds_length": 597,
"cdna_start": 88,
"cdna_end": null,
"cdna_length": 655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABRAXAS1",
"gene_hgnc_id": 25829,
"hgvs_c": "c.286T>C",
"hgvs_p": "p.Ser96Pro",
"transcript": "ENST00000506553.5",
"protein_id": "ENSP00000426763.1",
"transcript_support_level": 5,
"aa_start": 96,
"aa_end": null,
"aa_length": 360,
"cds_start": 286,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 612,
"cdna_end": null,
"cdna_length": 1869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABRAXAS1",
"gene_hgnc_id": 25829,
"hgvs_c": "c.106T>C",
"hgvs_p": "p.Ser36Pro",
"transcript": "NM_001345962.2",
"protein_id": "NP_001332891.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 300,
"cds_start": 106,
"cds_end": null,
"cds_length": 903,
"cdna_start": 394,
"cdna_end": null,
"cdna_length": 4143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABRAXAS1",
"gene_hgnc_id": 25829,
"hgvs_c": "c.412T>C",
"hgvs_p": "p.Ser138Pro",
"transcript": "ENST00000505489.5",
"protein_id": "ENSP00000480277.1",
"transcript_support_level": 5,
"aa_start": 138,
"aa_end": null,
"aa_length": 219,
"cds_start": 412,
"cds_end": null,
"cds_length": 660,
"cdna_start": 599,
"cdna_end": null,
"cdna_length": 847,
"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": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABRAXAS1",
"gene_hgnc_id": 25829,
"hgvs_c": "n.*141T>C",
"hgvs_p": null,
"transcript": "ENST00000475656.6",
"protein_id": "ENSP00000426080.1",
"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": 2718,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABRAXAS1",
"gene_hgnc_id": 25829,
"hgvs_c": "n.*494T>C",
"hgvs_p": null,
"transcript": "ENST00000511801.1",
"protein_id": "ENSP00000421876.2",
"transcript_support_level": 3,
"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": 682,
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABRAXAS1",
"gene_hgnc_id": 25829,
"hgvs_c": "n.461T>C",
"hgvs_p": null,
"transcript": "XR_001741334.3",
"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": 933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABRAXAS1",
"gene_hgnc_id": 25829,
"hgvs_c": "n.*141T>C",
"hgvs_p": null,
"transcript": "ENST00000475656.6",
"protein_id": "ENSP00000426080.1",
"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": 2718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABRAXAS1",
"gene_hgnc_id": 25829,
"hgvs_c": "n.*494T>C",
"hgvs_p": null,
"transcript": "ENST00000511801.1",
"protein_id": "ENSP00000421876.2",
"transcript_support_level": 3,
"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": 682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABRAXAS1",
"gene_hgnc_id": 25829,
"hgvs_c": "c.*28T>C",
"hgvs_p": null,
"transcript": "ENST00000503217.2",
"protein_id": "ENSP00000481099.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 188,
"cds_start": -4,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ABRAXAS1",
"gene_hgnc_id": 25829,
"dbsnp": "rs886983641",
"frequency_reference_population": 0.000025408362,
"hom_count_reference_population": 0,
"allele_count_reference_population": 41,
"gnomad_exomes_af": 0.0000253173,
"gnomad_genomes_af": 0.0000262826,
"gnomad_exomes_ac": 37,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6828144192695618,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.597,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9361,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.12,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.229,
"phylop100way_prediction": "Uncertain_significance",
"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": 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": "ENST00000321945.12",
"gene_symbol": "ABRAXAS1",
"hgnc_id": 25829,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.433T>C",
"hgvs_p": "p.Ser145Pro"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}