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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: 3-42658711-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=42658711&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 42658711,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001410746.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB47",
"gene_hgnc_id": 26955,
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Pro119Leu",
"transcript": "NM_145166.4",
"protein_id": "NP_660149.2",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 747,
"cds_start": 356,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000232974.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145166.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB47",
"gene_hgnc_id": 26955,
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Pro119Leu",
"transcript": "ENST00000232974.11",
"protein_id": "ENSP00000232974.6",
"transcript_support_level": 5,
"aa_start": 119,
"aa_end": null,
"aa_length": 747,
"cds_start": 356,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_145166.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000232974.11"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB47",
"gene_hgnc_id": 26955,
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Pro147Leu",
"transcript": "NM_001410746.1",
"protein_id": "NP_001397675.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 775,
"cds_start": 440,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410746.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB47",
"gene_hgnc_id": 26955,
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Pro147Leu",
"transcript": "ENST00000680014.1",
"protein_id": "ENSP00000504903.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 775,
"cds_start": 440,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680014.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB47",
"gene_hgnc_id": 26955,
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Pro119Leu",
"transcript": "ENST00000889823.1",
"protein_id": "ENSP00000559882.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 771,
"cds_start": 356,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889823.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB47",
"gene_hgnc_id": 26955,
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Pro119Leu",
"transcript": "ENST00000889819.1",
"protein_id": "ENSP00000559878.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 747,
"cds_start": 356,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889819.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB47",
"gene_hgnc_id": 26955,
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Pro119Leu",
"transcript": "ENST00000889821.1",
"protein_id": "ENSP00000559880.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 747,
"cds_start": 356,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889821.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB47",
"gene_hgnc_id": 26955,
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Pro119Leu",
"transcript": "ENST00000889820.1",
"protein_id": "ENSP00000559879.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 420,
"cds_start": 356,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889820.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB47",
"gene_hgnc_id": 26955,
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Pro119Leu",
"transcript": "ENST00000889822.1",
"protein_id": "ENSP00000559881.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 420,
"cds_start": 356,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889822.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB47",
"gene_hgnc_id": 26955,
"hgvs_c": "c.536C>T",
"hgvs_p": "p.Pro179Leu",
"transcript": "XM_047449234.1",
"protein_id": "XP_047305190.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 807,
"cds_start": 536,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449234.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000300878",
"gene_hgnc_id": null,
"hgvs_c": "n.10G>A",
"hgvs_p": null,
"transcript": "ENST00000774813.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000774813.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB47",
"gene_hgnc_id": 26955,
"hgvs_c": "c.-421C>T",
"hgvs_p": null,
"transcript": "ENST00000505904.1",
"protein_id": "ENSP00000420968.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 293,
"cds_start": null,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505904.1"
}
],
"gene_symbol": "ZBTB47",
"gene_hgnc_id": 26955,
"dbsnp": "rs548527268",
"frequency_reference_population": 0.00002214473,
"hom_count_reference_population": 0,
"allele_count_reference_population": 34,
"gnomad_exomes_af": 0.0000151846,
"gnomad_genomes_af": 0.0000853175,
"gnomad_exomes_ac": 21,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04917970299720764,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.139,
"revel_prediction": "Benign",
"alphamissense_score": 0.107,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.7,
"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": -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_001410746.1",
"gene_symbol": "ZBTB47",
"hgnc_id": 26955,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Pro147Leu"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000774813.1",
"gene_symbol": "ENSG00000300878",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.10G>A",
"hgvs_p": null
}
],
"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
}