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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: 2-27442591-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27442591&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 27442591,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_173853.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRTCAP3",
"gene_hgnc_id": 28943,
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Gly14Glu",
"transcript": "NM_173853.4",
"protein_id": "NP_776252.2",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 240,
"cds_start": 41,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000288873.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173853.4"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRTCAP3",
"gene_hgnc_id": 28943,
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Gly14Glu",
"transcript": "ENST00000288873.7",
"protein_id": "ENSP00000288873.3",
"transcript_support_level": 1,
"aa_start": 14,
"aa_end": null,
"aa_length": 240,
"cds_start": 41,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_173853.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000288873.7"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRTCAP3",
"gene_hgnc_id": 28943,
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Gly14Glu",
"transcript": "NM_001168364.2",
"protein_id": "NP_001161836.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 240,
"cds_start": 41,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168364.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRTCAP3",
"gene_hgnc_id": 28943,
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Gly14Glu",
"transcript": "NM_001321325.2",
"protein_id": "NP_001308254.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 240,
"cds_start": 41,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321325.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRTCAP3",
"gene_hgnc_id": 28943,
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Gly14Glu",
"transcript": "ENST00000543753.5",
"protein_id": "ENSP00000442400.1",
"transcript_support_level": 5,
"aa_start": 14,
"aa_end": null,
"aa_length": 240,
"cds_start": 41,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543753.5"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRTCAP3",
"gene_hgnc_id": 28943,
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Gly14Glu",
"transcript": "ENST00000872248.1",
"protein_id": "ENSP00000542307.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 240,
"cds_start": 41,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872248.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRTCAP3",
"gene_hgnc_id": 28943,
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Gly14Glu",
"transcript": "ENST00000872249.1",
"protein_id": "ENSP00000542308.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 240,
"cds_start": 41,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872249.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRTCAP3",
"gene_hgnc_id": 28943,
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Gly14Glu",
"transcript": "ENST00000872250.1",
"protein_id": "ENSP00000542309.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 220,
"cds_start": 41,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872250.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRTCAP3",
"gene_hgnc_id": 28943,
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Gly14Glu",
"transcript": "ENST00000872251.1",
"protein_id": "ENSP00000542310.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 220,
"cds_start": 41,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872251.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"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": "KRTCAP3",
"gene_hgnc_id": 28943,
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Gly14Glu",
"transcript": "ENST00000872254.1",
"protein_id": "ENSP00000542313.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 220,
"cds_start": 41,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872254.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"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": "KRTCAP3",
"gene_hgnc_id": 28943,
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Gly14Glu",
"transcript": "ENST00000914468.1",
"protein_id": "ENSP00000584527.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 220,
"cds_start": 41,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914468.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"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": "KRTCAP3",
"gene_hgnc_id": 28943,
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Gly14Glu",
"transcript": "ENST00000872252.1",
"protein_id": "ENSP00000542311.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 171,
"cds_start": 41,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872252.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"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": "KRTCAP3",
"gene_hgnc_id": 28943,
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Gly14Glu",
"transcript": "ENST00000872253.1",
"protein_id": "ENSP00000542312.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 171,
"cds_start": 41,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872253.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"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": "KRTCAP3",
"gene_hgnc_id": 28943,
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Gly14Glu",
"transcript": "XM_047443704.1",
"protein_id": "XP_047299660.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 240,
"cds_start": 41,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443704.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRTCAP3",
"gene_hgnc_id": 28943,
"hgvs_c": "c.-14G>A",
"hgvs_p": null,
"transcript": "ENST00000407293.5",
"protein_id": "ENSP00000384689.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 222,
"cds_start": null,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407293.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KRTCAP3",
"gene_hgnc_id": 28943,
"hgvs_c": "c.28+151G>A",
"hgvs_p": null,
"transcript": "ENST00000914469.1",
"protein_id": "ENSP00000584528.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 135,
"cds_start": null,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914469.1"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KRTCAP3",
"gene_hgnc_id": 28943,
"hgvs_c": "n.28+151G>A",
"hgvs_p": null,
"transcript": "ENST00000453171.5",
"protein_id": "ENSP00000389860.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000453171.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRTCAP3",
"gene_hgnc_id": 28943,
"hgvs_c": "n.-154G>A",
"hgvs_p": null,
"transcript": "ENST00000464699.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000464699.5"
}
],
"gene_symbol": "KRTCAP3",
"gene_hgnc_id": 28943,
"dbsnp": "rs377479943",
"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": 0.7236214876174927,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.216,
"revel_prediction": "Benign",
"alphamissense_score": 0.6197,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.276,
"phylop100way_prediction": "Uncertain_significance",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_173853.4",
"gene_symbol": "KRTCAP3",
"hgnc_id": 28943,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Gly14Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}