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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: 6-109475465-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=109475465&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 109475465,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000230122.4",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "G",
"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": "ZBTB24",
"gene_hgnc_id": 21143,
"hgvs_c": "c.1222T>G",
"hgvs_p": "p.Cys408Gly",
"transcript": "NM_014797.3",
"protein_id": "NP_055612.2",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 697,
"cds_start": 1222,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 5501,
"mane_select": "ENST00000230122.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": true,
"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": "ZBTB24",
"gene_hgnc_id": 21143,
"hgvs_c": "c.1222T>G",
"hgvs_p": "p.Cys408Gly",
"transcript": "ENST00000230122.4",
"protein_id": "ENSP00000230122.4",
"transcript_support_level": 1,
"aa_start": 408,
"aa_end": null,
"aa_length": 697,
"cds_start": 1222,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 5501,
"mane_select": "NM_014797.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "G",
"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": "ZBTB24",
"gene_hgnc_id": 21143,
"hgvs_c": "c.1222T>G",
"hgvs_p": "p.Cys408Gly",
"transcript": "ENST00000698516.1",
"protein_id": "ENSP00000513766.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 697,
"cds_start": 1222,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 1435,
"cdna_end": null,
"cdna_length": 5550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB24",
"gene_hgnc_id": 21143,
"hgvs_c": "c.1054T>G",
"hgvs_p": "p.Cys352Gly",
"transcript": "ENST00000698513.1",
"protein_id": "ENSP00000513763.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 641,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 1204,
"cdna_end": null,
"cdna_length": 7295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB24",
"gene_hgnc_id": 21143,
"hgvs_c": "c.1054T>G",
"hgvs_p": "p.Cys352Gly",
"transcript": "ENST00000698519.1",
"protein_id": "ENSP00000513768.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 418,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1204,
"cdna_end": null,
"cdna_length": 2484,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB24",
"gene_hgnc_id": 21143,
"hgvs_c": "n.*80T>G",
"hgvs_p": null,
"transcript": "ENST00000698514.1",
"protein_id": "ENSP00000513764.1",
"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": 5283,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB24",
"gene_hgnc_id": 21143,
"hgvs_c": "n.*80T>G",
"hgvs_p": null,
"transcript": "ENST00000698515.1",
"protein_id": "ENSP00000513765.1",
"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": 5465,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB24",
"gene_hgnc_id": 21143,
"hgvs_c": "n.2062T>G",
"hgvs_p": null,
"transcript": "ENST00000698517.1",
"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": 6481,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB24",
"gene_hgnc_id": 21143,
"hgvs_c": "n.1222T>G",
"hgvs_p": null,
"transcript": "ENST00000698518.1",
"protein_id": "ENSP00000513767.1",
"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": 3615,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB24",
"gene_hgnc_id": 21143,
"hgvs_c": "n.*80T>G",
"hgvs_p": null,
"transcript": "ENST00000698514.1",
"protein_id": "ENSP00000513764.1",
"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": 5283,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB24",
"gene_hgnc_id": 21143,
"hgvs_c": "n.*80T>G",
"hgvs_p": null,
"transcript": "ENST00000698515.1",
"protein_id": "ENSP00000513765.1",
"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": 5465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZBTB24",
"gene_hgnc_id": 21143,
"hgvs_c": "c.952+5610T>G",
"hgvs_p": null,
"transcript": "ENST00000698520.1",
"protein_id": "ENSP00000513769.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 585,
"cds_start": -4,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZBTB24",
"gene_hgnc_id": 21143,
"dbsnp": "rs387907105",
"frequency_reference_population": 0.000019205869,
"hom_count_reference_population": 0,
"allele_count_reference_population": 31,
"gnomad_exomes_af": 0.0000191534,
"gnomad_genomes_af": 0.0000197094,
"gnomad_exomes_ac": 28,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.928951621055603,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.521,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9852,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.12,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.765,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"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": "Pathogenic",
"acmg_criteria": "PM2,PP3_Moderate,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000230122.4",
"gene_symbol": "ZBTB24",
"hgnc_id": 21143,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1222T>G",
"hgvs_p": "p.Cys408Gly"
}
],
"clinvar_disease": "Immunodeficiency-centromeric instability-facial anomalies syndrome 2,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4",
"phenotype_combined": "Immunodeficiency-centromeric instability-facial anomalies syndrome 2|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}