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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: 9-127444515-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=127444515&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 127444515,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000342483.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF79",
"gene_hgnc_id": 13153,
"hgvs_c": "c.815C>G",
"hgvs_p": "p.Thr272Ser",
"transcript": "NM_007135.3",
"protein_id": "NP_009066.2",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 498,
"cds_start": 815,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 1221,
"cdna_end": null,
"cdna_length": 2078,
"mane_select": "ENST00000342483.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF79",
"gene_hgnc_id": 13153,
"hgvs_c": "c.815C>G",
"hgvs_p": "p.Thr272Ser",
"transcript": "ENST00000342483.5",
"protein_id": "ENSP00000362446.4",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 498,
"cds_start": 815,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 1221,
"cdna_end": null,
"cdna_length": 2078,
"mane_select": "NM_007135.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF79",
"gene_hgnc_id": 13153,
"hgvs_c": "c.743C>G",
"hgvs_p": "p.Thr248Ser",
"transcript": "NM_001286696.2",
"protein_id": "NP_001273625.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 474,
"cds_start": 743,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1328,
"cdna_end": null,
"cdna_length": 2185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF79",
"gene_hgnc_id": 13153,
"hgvs_c": "c.743C>G",
"hgvs_p": "p.Thr248Ser",
"transcript": "NM_001286697.2",
"protein_id": "NP_001273626.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 474,
"cds_start": 743,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1330,
"cdna_end": null,
"cdna_length": 2187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF79",
"gene_hgnc_id": 13153,
"hgvs_c": "c.743C>G",
"hgvs_p": "p.Thr248Ser",
"transcript": "NM_001322260.2",
"protein_id": "NP_001309189.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 474,
"cds_start": 743,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1459,
"cdna_end": null,
"cdna_length": 2316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF79",
"gene_hgnc_id": 13153,
"hgvs_c": "c.743C>G",
"hgvs_p": "p.Thr248Ser",
"transcript": "ENST00000543471.6",
"protein_id": "ENSP00000438418.1",
"transcript_support_level": 2,
"aa_start": 248,
"aa_end": null,
"aa_length": 474,
"cds_start": 743,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1451,
"cdna_end": null,
"cdna_length": 2292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF79",
"gene_hgnc_id": 13153,
"hgvs_c": "c.743C>G",
"hgvs_p": "p.Thr248Ser",
"transcript": "ENST00000850856.1",
"protein_id": "ENSP00000520944.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 474,
"cds_start": 743,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1584,
"cdna_end": null,
"cdna_length": 2429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF79",
"gene_hgnc_id": 13153,
"hgvs_c": "c.413C>G",
"hgvs_p": "p.Thr138Ser",
"transcript": "NM_001286698.2",
"protein_id": "NP_001273627.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 364,
"cds_start": 413,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 1105,
"cdna_end": null,
"cdna_length": 1962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF79",
"gene_hgnc_id": 13153,
"hgvs_c": "c.413C>G",
"hgvs_p": "p.Thr138Ser",
"transcript": "ENST00000617266.2",
"protein_id": "ENSP00000484833.1",
"transcript_support_level": 3,
"aa_start": 138,
"aa_end": null,
"aa_length": 364,
"cds_start": 413,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 1969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF79",
"gene_hgnc_id": 13153,
"hgvs_c": "c.743C>G",
"hgvs_p": "p.Thr248Ser",
"transcript": "XM_006717279.4",
"protein_id": "XP_006717342.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 474,
"cds_start": 743,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1437,
"cdna_end": null,
"cdna_length": 2294,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF79",
"gene_hgnc_id": 13153,
"hgvs_c": "n.743C>G",
"hgvs_p": null,
"transcript": "ENST00000612342.5",
"protein_id": "ENSP00000478201.1",
"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": 2626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF79",
"gene_hgnc_id": 13153,
"hgvs_c": "c.79-4523C>G",
"hgvs_p": null,
"transcript": "ENST00000850855.1",
"protein_id": "ENSP00000520943.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 119,
"cds_start": -4,
"cds_end": null,
"cds_length": 360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ZNF79",
"gene_hgnc_id": 13153,
"hgvs_c": "c.257-4806C>G",
"hgvs_p": null,
"transcript": "ENST00000850857.1",
"protein_id": "ENSP00000520945.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 87,
"cds_start": -4,
"cds_end": null,
"cds_length": 264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZNF79",
"gene_hgnc_id": 13153,
"dbsnp": "rs371466147",
"frequency_reference_population": 0.000004964855,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000205601,
"gnomad_genomes_af": 0.0000328537,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.232550710439682,
"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": 0.3115,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.593,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000342483.5",
"gene_symbol": "ZNF79",
"hgnc_id": 13153,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.815C>G",
"hgvs_p": "p.Thr272Ser"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}