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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: 2-27378485-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27378485&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 27378485,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_144631.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF513",
"gene_hgnc_id": 26498,
"hgvs_c": "c.781G>T",
"hgvs_p": "p.Val261Leu",
"transcript": "NM_144631.6",
"protein_id": "NP_653232.3",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 541,
"cds_start": 781,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 989,
"cdna_end": null,
"cdna_length": 2144,
"mane_select": "ENST00000323703.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF513",
"gene_hgnc_id": 26498,
"hgvs_c": "c.781G>T",
"hgvs_p": "p.Val261Leu",
"transcript": "ENST00000323703.11",
"protein_id": "ENSP00000318373.6",
"transcript_support_level": 1,
"aa_start": 261,
"aa_end": null,
"aa_length": 541,
"cds_start": 781,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 989,
"cdna_end": null,
"cdna_length": 2144,
"mane_select": "NM_144631.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF513",
"gene_hgnc_id": 26498,
"hgvs_c": "c.595G>T",
"hgvs_p": "p.Val199Leu",
"transcript": "ENST00000407879.1",
"protein_id": "ENSP00000384874.1",
"transcript_support_level": 1,
"aa_start": 199,
"aa_end": null,
"aa_length": 479,
"cds_start": 595,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 922,
"cdna_end": null,
"cdna_length": 2077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF513",
"gene_hgnc_id": 26498,
"hgvs_c": "c.595G>T",
"hgvs_p": "p.Val199Leu",
"transcript": "NM_001201459.2",
"protein_id": "NP_001188388.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 479,
"cds_start": 595,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 922,
"cdna_end": null,
"cdna_length": 2077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF513",
"gene_hgnc_id": 26498,
"hgvs_c": "c.277G>T",
"hgvs_p": "p.Val93Leu",
"transcript": "XM_005264143.4",
"protein_id": "XP_005264200.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 373,
"cds_start": 277,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 386,
"cdna_end": null,
"cdna_length": 1541,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF513",
"gene_hgnc_id": 26498,
"hgvs_c": "n.241G>T",
"hgvs_p": null,
"transcript": "ENST00000491924.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF513",
"gene_hgnc_id": 26498,
"hgvs_c": "c.*246G>T",
"hgvs_p": null,
"transcript": "ENST00000436006.1",
"protein_id": "ENSP00000394226.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 115,
"cds_start": -4,
"cds_end": null,
"cds_length": 349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZNF513",
"gene_hgnc_id": 26498,
"dbsnp": "rs61742428",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08560994267463684,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.064,
"revel_prediction": "Benign",
"alphamissense_score": 0.1008,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.136,
"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": "NM_144631.6",
"gene_symbol": "ZNF513",
"hgnc_id": 26498,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.781G>T",
"hgvs_p": "p.Val261Leu"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}