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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: 1-26039897-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=26039897&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 26039897,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001004434.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A2",
"gene_hgnc_id": 11013,
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Val285Ile",
"transcript": "NM_001004434.3",
"protein_id": "NP_001004434.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 372,
"cds_start": 853,
"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": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A2",
"gene_hgnc_id": 11013,
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Val285Ile",
"transcript": "ENST00000374276.4",
"protein_id": "ENSP00000363394.3",
"transcript_support_level": 1,
"aa_start": 285,
"aa_end": null,
"aa_length": 372,
"cds_start": 853,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A2",
"gene_hgnc_id": 11013,
"hgvs_c": "c.706G>A",
"hgvs_p": "p.Val236Ile",
"transcript": "ENST00000374278.7",
"protein_id": "ENSP00000363396.3",
"transcript_support_level": 1,
"aa_start": 236,
"aa_end": null,
"aa_length": 323,
"cds_start": 706,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A2",
"gene_hgnc_id": 11013,
"hgvs_c": "c.895G>A",
"hgvs_p": "p.Val299Ile",
"transcript": "ENST00000946935.1",
"protein_id": "ENSP00000616994.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 386,
"cds_start": 895,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A2",
"gene_hgnc_id": 11013,
"hgvs_c": "c.877G>A",
"hgvs_p": "p.Val293Ile",
"transcript": "ENST00000902327.1",
"protein_id": "ENSP00000572386.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 380,
"cds_start": 877,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A2",
"gene_hgnc_id": 11013,
"hgvs_c": "c.742G>A",
"hgvs_p": "p.Val248Ile",
"transcript": "ENST00000946936.1",
"protein_id": "ENSP00000616995.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 335,
"cds_start": 742,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A2",
"gene_hgnc_id": 11013,
"hgvs_c": "c.706G>A",
"hgvs_p": "p.Val236Ile",
"transcript": "NM_032513.5",
"protein_id": "NP_115902.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 323,
"cds_start": 706,
"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"
},
{
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC30A2",
"gene_hgnc_id": 11013,
"hgvs_c": "c.839-13G>A",
"hgvs_p": null,
"transcript": "ENST00000902326.1",
"protein_id": "ENSP00000572385.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 363,
"cds_start": null,
"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"
}
],
"gene_symbol": "SLC30A2",
"gene_hgnc_id": 11013,
"dbsnp": "rs561828004",
"frequency_reference_population": 0.000023543202,
"hom_count_reference_population": 0,
"allele_count_reference_population": 38,
"gnomad_exomes_af": 0.000023943,
"gnomad_genomes_af": 0.000019705,
"gnomad_exomes_ac": 35,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.028930991888046265,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.029,
"revel_prediction": "Benign",
"alphamissense_score": 0.0833,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.129,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001004434.3",
"gene_symbol": "SLC30A2",
"hgnc_id": 11013,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Val285Ile"
}
],
"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
}