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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: 1-26042704-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=26042704&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 26042704,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001004434.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A2",
"gene_hgnc_id": 11013,
"hgvs_c": "c.577G>C",
"hgvs_p": "p.Gly193Arg",
"transcript": "NM_001004434.3",
"protein_id": "NP_001004434.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 372,
"cds_start": 577,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374276.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001004434.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A2",
"gene_hgnc_id": 11013,
"hgvs_c": "c.577G>C",
"hgvs_p": "p.Gly193Arg",
"transcript": "ENST00000374276.4",
"protein_id": "ENSP00000363394.3",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 372,
"cds_start": 577,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001004434.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374276.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A2",
"gene_hgnc_id": 11013,
"hgvs_c": "c.430G>C",
"hgvs_p": "p.Gly144Arg",
"transcript": "ENST00000374278.7",
"protein_id": "ENSP00000363396.3",
"transcript_support_level": 1,
"aa_start": 144,
"aa_end": null,
"aa_length": 323,
"cds_start": 430,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374278.7"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A2",
"gene_hgnc_id": 11013,
"hgvs_c": "c.619G>C",
"hgvs_p": "p.Gly207Arg",
"transcript": "ENST00000946935.1",
"protein_id": "ENSP00000616994.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 386,
"cds_start": 619,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946935.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A2",
"gene_hgnc_id": 11013,
"hgvs_c": "c.601G>C",
"hgvs_p": "p.Gly201Arg",
"transcript": "ENST00000902327.1",
"protein_id": "ENSP00000572386.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 380,
"cds_start": 601,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902327.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A2",
"gene_hgnc_id": 11013,
"hgvs_c": "c.577G>C",
"hgvs_p": "p.Gly193Arg",
"transcript": "ENST00000902326.1",
"protein_id": "ENSP00000572385.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 363,
"cds_start": 577,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902326.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A2",
"gene_hgnc_id": 11013,
"hgvs_c": "c.466G>C",
"hgvs_p": "p.Gly156Arg",
"transcript": "ENST00000946936.1",
"protein_id": "ENSP00000616995.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 335,
"cds_start": 466,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946936.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A2",
"gene_hgnc_id": 11013,
"hgvs_c": "c.430G>C",
"hgvs_p": "p.Gly144Arg",
"transcript": "NM_032513.5",
"protein_id": "NP_115902.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 323,
"cds_start": 430,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032513.5"
}
],
"gene_symbol": "SLC30A2",
"gene_hgnc_id": 11013,
"dbsnp": "rs748607852",
"frequency_reference_population": 0.00002230793,
"hom_count_reference_population": 0,
"allele_count_reference_population": 36,
"gnomad_exomes_af": 0.0000191577,
"gnomad_genomes_af": 0.0000525555,
"gnomad_exomes_ac": 28,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9289478659629822,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.475,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9638,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.427,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3_Moderate,BS2",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001004434.3",
"gene_symbol": "SLC30A2",
"hgnc_id": 11013,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.577G>C",
"hgvs_p": "p.Gly193Arg"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}