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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: 16-48560895-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=48560895&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 48560895,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_153029.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP1",
"gene_hgnc_id": 29850,
"hgvs_c": "c.1748C>G",
"hgvs_p": "p.Ser583Cys",
"transcript": "NM_153029.4",
"protein_id": "NP_694574.3",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 896,
"cds_start": 1748,
"cds_end": null,
"cds_length": 2691,
"cdna_start": 1956,
"cdna_end": null,
"cdna_length": 7077,
"mane_select": "ENST00000262384.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153029.4"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP1",
"gene_hgnc_id": 29850,
"hgvs_c": "c.1748C>G",
"hgvs_p": "p.Ser583Cys",
"transcript": "ENST00000262384.4",
"protein_id": "ENSP00000262384.3",
"transcript_support_level": 1,
"aa_start": 583,
"aa_end": null,
"aa_length": 896,
"cds_start": 1748,
"cds_end": null,
"cds_length": 2691,
"cdna_start": 1956,
"cdna_end": null,
"cdna_length": 7077,
"mane_select": "NM_153029.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262384.4"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP1",
"gene_hgnc_id": 29850,
"hgvs_c": "c.1748C>G",
"hgvs_p": "p.Ser583Cys",
"transcript": "ENST00000962631.1",
"protein_id": "ENSP00000632690.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 937,
"cds_start": 1748,
"cds_end": null,
"cds_length": 2814,
"cdna_start": 1972,
"cdna_end": null,
"cdna_length": 3429,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962631.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP1",
"gene_hgnc_id": 29850,
"hgvs_c": "c.1859C>G",
"hgvs_p": "p.Ser620Cys",
"transcript": "ENST00000934852.1",
"protein_id": "ENSP00000604911.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 933,
"cds_start": 1859,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 2071,
"cdna_end": null,
"cdna_length": 3428,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934852.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP1",
"gene_hgnc_id": 29850,
"hgvs_c": "c.1748C>G",
"hgvs_p": "p.Ser583Cys",
"transcript": "ENST00000962630.1",
"protein_id": "ENSP00000632689.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 824,
"cds_start": 1748,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 1983,
"cdna_end": null,
"cdna_length": 3123,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962630.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"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": "N4BP1",
"gene_hgnc_id": 29850,
"hgvs_c": "c.1748C>G",
"hgvs_p": "p.Ser583Cys",
"transcript": "ENST00000934853.1",
"protein_id": "ENSP00000604912.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 748,
"cds_start": 1748,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 1955,
"cdna_end": null,
"cdna_length": 2868,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934853.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP1",
"gene_hgnc_id": 29850,
"hgvs_c": "c.1748C>G",
"hgvs_p": "p.Ser583Cys",
"transcript": "XM_011523482.2",
"protein_id": "XP_011521784.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 860,
"cds_start": 1748,
"cds_end": null,
"cds_length": 2583,
"cdna_start": 1956,
"cdna_end": null,
"cdna_length": 6969,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523482.2"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP1",
"gene_hgnc_id": 29850,
"hgvs_c": "n.1850C>G",
"hgvs_p": null,
"transcript": "ENST00000564124.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 2485,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000564124.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP1",
"gene_hgnc_id": 29850,
"hgvs_c": "n.1956C>G",
"hgvs_p": null,
"transcript": "XR_007064930.1",
"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": 2489,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007064930.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000261267",
"gene_hgnc_id": null,
"hgvs_c": "n.173+229G>C",
"hgvs_p": null,
"transcript": "ENST00000563994.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 438,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000563994.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000295475",
"gene_hgnc_id": null,
"hgvs_c": "n.480+33677G>C",
"hgvs_p": null,
"transcript": "ENST00000730325.1",
"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": 745,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000730325.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000295475",
"gene_hgnc_id": null,
"hgvs_c": "n.162+33677G>C",
"hgvs_p": null,
"transcript": "ENST00000730326.1",
"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": 427,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000730326.1"
}
],
"gene_symbol": "N4BP1",
"gene_hgnc_id": 29850,
"dbsnp": "rs201209953",
"frequency_reference_population": 0.00013631897,
"hom_count_reference_population": 0,
"allele_count_reference_population": 220,
"gnomad_exomes_af": 0.000141618,
"gnomad_genomes_af": 0.0000854218,
"gnomad_exomes_ac": 207,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09902465343475342,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.097,
"revel_prediction": "Benign",
"alphamissense_score": 0.0811,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.491,
"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": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_153029.4",
"gene_symbol": "N4BP1",
"hgnc_id": 29850,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1748C>G",
"hgvs_p": "p.Ser583Cys"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000563994.1",
"gene_symbol": "ENSG00000261267",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.173+229G>C",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000730325.1",
"gene_symbol": "ENSG00000295475",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.480+33677G>C",
"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
}