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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: 19-57234985-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=57234985&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 57234985,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001015878.2",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKC",
"gene_hgnc_id": 11391,
"hgvs_c": "c.686G>A",
"hgvs_p": "p.Cys229Tyr",
"transcript": "NM_001015878.2",
"protein_id": "NP_001015878.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 309,
"cds_start": 686,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000302804.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001015878.2"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKC",
"gene_hgnc_id": 11391,
"hgvs_c": "c.686G>A",
"hgvs_p": "p.Cys229Tyr",
"transcript": "ENST00000302804.12",
"protein_id": "ENSP00000302898.6",
"transcript_support_level": 1,
"aa_start": 229,
"aa_end": null,
"aa_length": 309,
"cds_start": 686,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001015878.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302804.12"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKC",
"gene_hgnc_id": 11391,
"hgvs_c": "c.677G>A",
"hgvs_p": "p.Cys226Tyr",
"transcript": "ENST00000599062.5",
"protein_id": "ENSP00000469983.1",
"transcript_support_level": 1,
"aa_start": 226,
"aa_end": null,
"aa_length": 306,
"cds_start": 677,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599062.5"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKC",
"gene_hgnc_id": 11391,
"hgvs_c": "c.629G>A",
"hgvs_p": "p.Cys210Tyr",
"transcript": "ENST00000415300.6",
"protein_id": "ENSP00000407162.1",
"transcript_support_level": 1,
"aa_start": 210,
"aa_end": null,
"aa_length": 290,
"cds_start": 629,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415300.6"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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": "AURKC",
"gene_hgnc_id": 11391,
"hgvs_c": "c.584G>A",
"hgvs_p": "p.Cys195Tyr",
"transcript": "ENST00000598785.5",
"protein_id": "ENSP00000471830.1",
"transcript_support_level": 1,
"aa_start": 195,
"aa_end": null,
"aa_length": 275,
"cds_start": 584,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000598785.5"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKC",
"gene_hgnc_id": 11391,
"hgvs_c": "c.683G>A",
"hgvs_p": "p.Cys228Tyr",
"transcript": "ENST00000923144.1",
"protein_id": "ENSP00000593203.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 308,
"cds_start": 683,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923144.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKC",
"gene_hgnc_id": 11391,
"hgvs_c": "c.629G>A",
"hgvs_p": "p.Cys210Tyr",
"transcript": "NM_001015879.2",
"protein_id": "NP_001015879.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 290,
"cds_start": 629,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001015879.2"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKC",
"gene_hgnc_id": 11391,
"hgvs_c": "c.584G>A",
"hgvs_p": "p.Cys195Tyr",
"transcript": "NM_003160.3",
"protein_id": "NP_003151.2",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 275,
"cds_start": 584,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003160.3"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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": "AURKC",
"gene_hgnc_id": 11391,
"hgvs_c": "c.170G>A",
"hgvs_p": "p.Cys57Tyr",
"transcript": "ENST00000594599.1",
"protein_id": "ENSP00000469894.1",
"transcript_support_level": 3,
"aa_start": 57,
"aa_end": null,
"aa_length": 137,
"cds_start": 170,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000594599.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKC",
"gene_hgnc_id": 11391,
"hgvs_c": "n.*247G>A",
"hgvs_p": null,
"transcript": "ENST00000596375.1",
"protein_id": "ENSP00000470465.1",
"transcript_support_level": 3,
"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": "nonsense_mediated_decay",
"feature": "ENST00000596375.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKC",
"gene_hgnc_id": 11391,
"hgvs_c": "n.*985G>A",
"hgvs_p": null,
"transcript": "ENST00000601799.5",
"protein_id": "ENSP00000468918.1",
"transcript_support_level": 3,
"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": "nonsense_mediated_decay",
"feature": "ENST00000601799.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKC",
"gene_hgnc_id": 11391,
"hgvs_c": "n.*247G>A",
"hgvs_p": null,
"transcript": "ENST00000596375.1",
"protein_id": "ENSP00000470465.1",
"transcript_support_level": 3,
"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": "nonsense_mediated_decay",
"feature": "ENST00000596375.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKC",
"gene_hgnc_id": 11391,
"hgvs_c": "n.*985G>A",
"hgvs_p": null,
"transcript": "ENST00000601799.5",
"protein_id": "ENSP00000468918.1",
"transcript_support_level": 3,
"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": "nonsense_mediated_decay",
"feature": "ENST00000601799.5"
}
],
"gene_symbol": "AURKC",
"gene_hgnc_id": 11391,
"dbsnp": "rs121908654",
"frequency_reference_population": 6.840441e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84044e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9415819644927979,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.654,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.968,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.25,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.625,
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001015878.2",
"gene_symbol": "AURKC",
"hgnc_id": 11391,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.686G>A",
"hgvs_p": "p.Cys229Tyr"
}
],
"clinvar_disease": "Infertility associated with multi-tailed spermatozoa and excessive DNA",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Infertility associated with multi-tailed spermatozoa and excessive DNA",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}