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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: 20-32453712-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=32453712&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 32453712,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001256798.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL4L",
"gene_hgnc_id": 16106,
"hgvs_c": "c.1169G>A",
"hgvs_p": "p.Ser390Asn",
"transcript": "NM_001256798.2",
"protein_id": "NP_001243727.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 680,
"cds_start": 1169,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 1612,
"cdna_end": null,
"cdna_length": 7023,
"mane_select": "ENST00000621426.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL4L",
"gene_hgnc_id": 16106,
"hgvs_c": "c.1169G>A",
"hgvs_p": "p.Ser390Asn",
"transcript": "ENST00000621426.7",
"protein_id": "ENSP00000483523.1",
"transcript_support_level": 5,
"aa_start": 390,
"aa_end": null,
"aa_length": 680,
"cds_start": 1169,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 1612,
"cdna_end": null,
"cdna_length": 7023,
"mane_select": "NM_001256798.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL4L",
"gene_hgnc_id": 16106,
"hgvs_c": "c.437G>A",
"hgvs_p": "p.Ser146Asn",
"transcript": "NM_080616.6",
"protein_id": "NP_542183.2",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 436,
"cds_start": 437,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 599,
"cdna_end": null,
"cdna_length": 6010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL4L",
"gene_hgnc_id": 16106,
"hgvs_c": "c.437G>A",
"hgvs_p": "p.Ser146Asn",
"transcript": "ENST00000359676.9",
"protein_id": "ENSP00000352704.5",
"transcript_support_level": 2,
"aa_start": 146,
"aa_end": null,
"aa_length": 436,
"cds_start": 437,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 580,
"cdna_end": null,
"cdna_length": 5991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL4L",
"gene_hgnc_id": 16106,
"hgvs_c": "c.437G>A",
"hgvs_p": "p.Ser146Asn",
"transcript": "NM_001351680.2",
"protein_id": "NP_001338609.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 395,
"cds_start": 437,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 599,
"cdna_end": null,
"cdna_length": 6087,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL4L",
"gene_hgnc_id": 16106,
"hgvs_c": "n.507G>A",
"hgvs_p": null,
"transcript": "ENST00000475781.1",
"protein_id": "ENSP00000492149.1",
"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": 1127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000236772",
"gene_hgnc_id": null,
"hgvs_c": "n.*105C>T",
"hgvs_p": null,
"transcript": "ENST00000442179.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NOL4L",
"gene_hgnc_id": 16106,
"dbsnp": "rs150489354",
"frequency_reference_population": 0.000018604054,
"hom_count_reference_population": 0,
"allele_count_reference_population": 29,
"gnomad_exomes_af": 0.0000106638,
"gnomad_genomes_af": 0.0000919999,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 14,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14544245600700378,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.215,
"revel_prediction": "Benign",
"alphamissense_score": 0.3485,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.255,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001256798.2",
"gene_symbol": "NOL4L",
"hgnc_id": 16106,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1169G>A",
"hgvs_p": "p.Ser390Asn"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000442179.1",
"gene_symbol": "ENSG00000236772",
"hgnc_id": null,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*105C>T",
"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
}