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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: 11-62138902-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=62138902&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 62138902,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000394818.8",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCENP",
"gene_hgnc_id": 6058,
"hgvs_c": "c.1188T>G",
"hgvs_p": "p.Asn396Lys",
"transcript": "NM_001040694.2",
"protein_id": "NP_001035784.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 918,
"cds_start": 1188,
"cds_end": null,
"cds_length": 2757,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 4114,
"mane_select": "ENST00000394818.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCENP",
"gene_hgnc_id": 6058,
"hgvs_c": "c.1188T>G",
"hgvs_p": "p.Asn396Lys",
"transcript": "ENST00000394818.8",
"protein_id": "ENSP00000378295.3",
"transcript_support_level": 1,
"aa_start": 396,
"aa_end": null,
"aa_length": 918,
"cds_start": 1188,
"cds_end": null,
"cds_length": 2757,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 4114,
"mane_select": "NM_001040694.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCENP",
"gene_hgnc_id": 6058,
"hgvs_c": "c.1188T>G",
"hgvs_p": "p.Asn396Lys",
"transcript": "NM_020238.3",
"protein_id": "NP_064623.2",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 914,
"cds_start": 1188,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 4102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCENP",
"gene_hgnc_id": 6058,
"hgvs_c": "c.1188T>G",
"hgvs_p": "p.Asn396Lys",
"transcript": "ENST00000278849.5",
"protein_id": "ENSP00000278849.4",
"transcript_support_level": 5,
"aa_start": 396,
"aa_end": null,
"aa_length": 914,
"cds_start": 1188,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 1365,
"cdna_end": null,
"cdna_length": 6420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCENP",
"gene_hgnc_id": 6058,
"hgvs_c": "c.1188T>G",
"hgvs_p": "p.Asn396Lys",
"transcript": "XM_011544995.4",
"protein_id": "XP_011543297.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 933,
"cds_start": 1188,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 4159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCENP",
"gene_hgnc_id": 6058,
"hgvs_c": "c.1188T>G",
"hgvs_p": "p.Asn396Lys",
"transcript": "XM_011544996.4",
"protein_id": "XP_011543298.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 929,
"cds_start": 1188,
"cds_end": null,
"cds_length": 2790,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 4147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCENP",
"gene_hgnc_id": 6058,
"hgvs_c": "c.1188T>G",
"hgvs_p": "p.Asn396Lys",
"transcript": "XM_011544997.3",
"protein_id": "XP_011543299.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 929,
"cds_start": 1188,
"cds_end": null,
"cds_length": 2790,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 4147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCENP",
"gene_hgnc_id": 6058,
"hgvs_c": "c.1188T>G",
"hgvs_p": "p.Asn396Lys",
"transcript": "XM_011544998.4",
"protein_id": "XP_011543300.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 925,
"cds_start": 1188,
"cds_end": null,
"cds_length": 2778,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 4135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCENP",
"gene_hgnc_id": 6058,
"hgvs_c": "c.1188T>G",
"hgvs_p": "p.Asn396Lys",
"transcript": "XM_006718533.4",
"protein_id": "XP_006718596.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 922,
"cds_start": 1188,
"cds_end": null,
"cds_length": 2769,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 4126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCENP",
"gene_hgnc_id": 6058,
"hgvs_c": "c.1188T>G",
"hgvs_p": "p.Asn396Lys",
"transcript": "XM_047426886.1",
"protein_id": "XP_047282842.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 918,
"cds_start": 1188,
"cds_end": null,
"cds_length": 2757,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 4114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCENP",
"gene_hgnc_id": 6058,
"hgvs_c": "n.157T>G",
"hgvs_p": null,
"transcript": "ENST00000528375.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "INCENP",
"gene_hgnc_id": 6058,
"dbsnp": "rs1675126",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04829171299934387,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.025,
"revel_prediction": "Benign",
"alphamissense_score": 0.0713,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.621,
"phylop100way_prediction": "Benign",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000394818.8",
"gene_symbol": "INCENP",
"hgnc_id": 6058,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1188T>G",
"hgvs_p": "p.Asn396Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}