← Back to variant description
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: X-70374221-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=70374221&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 70374221,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_012310.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF4A",
"gene_hgnc_id": 13339,
"hgvs_c": "c.1745T>A",
"hgvs_p": "p.Leu582His",
"transcript": "NM_012310.5",
"protein_id": "NP_036442.3",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 1232,
"cds_start": 1745,
"cds_end": null,
"cds_length": 3699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374403.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012310.5"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF4A",
"gene_hgnc_id": 13339,
"hgvs_c": "c.1745T>A",
"hgvs_p": "p.Leu582His",
"transcript": "ENST00000374403.4",
"protein_id": "ENSP00000363524.3",
"transcript_support_level": 1,
"aa_start": 582,
"aa_end": null,
"aa_length": 1232,
"cds_start": 1745,
"cds_end": null,
"cds_length": 3699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012310.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374403.4"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF4A",
"gene_hgnc_id": 13339,
"hgvs_c": "c.1829T>A",
"hgvs_p": "p.Leu610His",
"transcript": "ENST00000924316.1",
"protein_id": "ENSP00000594375.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 1260,
"cds_start": 1829,
"cds_end": null,
"cds_length": 3783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924316.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF4A",
"gene_hgnc_id": 13339,
"hgvs_c": "c.1796T>A",
"hgvs_p": "p.Leu599His",
"transcript": "ENST00000859344.1",
"protein_id": "ENSP00000529403.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 1249,
"cds_start": 1796,
"cds_end": null,
"cds_length": 3750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859344.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF4A",
"gene_hgnc_id": 13339,
"hgvs_c": "c.1745T>A",
"hgvs_p": "p.Leu582His",
"transcript": "ENST00000859345.1",
"protein_id": "ENSP00000529404.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 1232,
"cds_start": 1745,
"cds_end": null,
"cds_length": 3699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859345.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF4A",
"gene_hgnc_id": 13339,
"hgvs_c": "c.1745T>A",
"hgvs_p": "p.Leu582His",
"transcript": "ENST00000924311.1",
"protein_id": "ENSP00000594370.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 1232,
"cds_start": 1745,
"cds_end": null,
"cds_length": 3699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924311.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF4A",
"gene_hgnc_id": 13339,
"hgvs_c": "c.1745T>A",
"hgvs_p": "p.Leu582His",
"transcript": "ENST00000924315.1",
"protein_id": "ENSP00000594374.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 1232,
"cds_start": 1745,
"cds_end": null,
"cds_length": 3699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924315.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF4A",
"gene_hgnc_id": 13339,
"hgvs_c": "c.1682T>A",
"hgvs_p": "p.Leu561His",
"transcript": "ENST00000924309.1",
"protein_id": "ENSP00000594368.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 1211,
"cds_start": 1682,
"cds_end": null,
"cds_length": 3636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924309.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF4A",
"gene_hgnc_id": 13339,
"hgvs_c": "c.1745T>A",
"hgvs_p": "p.Leu582His",
"transcript": "ENST00000859346.1",
"protein_id": "ENSP00000529405.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 1200,
"cds_start": 1745,
"cds_end": null,
"cds_length": 3603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859346.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF4A",
"gene_hgnc_id": 13339,
"hgvs_c": "c.1745T>A",
"hgvs_p": "p.Leu582His",
"transcript": "ENST00000924314.1",
"protein_id": "ENSP00000594373.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 1200,
"cds_start": 1745,
"cds_end": null,
"cds_length": 3603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924314.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF4A",
"gene_hgnc_id": 13339,
"hgvs_c": "c.1745T>A",
"hgvs_p": "p.Leu582His",
"transcript": "ENST00000924313.1",
"protein_id": "ENSP00000594372.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 1196,
"cds_start": 1745,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924313.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF4A",
"gene_hgnc_id": 13339,
"hgvs_c": "c.1745T>A",
"hgvs_p": "p.Leu582His",
"transcript": "ENST00000924310.1",
"protein_id": "ENSP00000594369.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 1193,
"cds_start": 1745,
"cds_end": null,
"cds_length": 3582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924310.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF4A",
"gene_hgnc_id": 13339,
"hgvs_c": "c.1745T>A",
"hgvs_p": "p.Leu582His",
"transcript": "ENST00000924308.1",
"protein_id": "ENSP00000594367.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 1191,
"cds_start": 1745,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924308.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF4A",
"gene_hgnc_id": 13339,
"hgvs_c": "c.1745T>A",
"hgvs_p": "p.Leu582His",
"transcript": "ENST00000924312.1",
"protein_id": "ENSP00000594371.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 1139,
"cds_start": 1745,
"cds_end": null,
"cds_length": 3420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924312.1"
}
],
"gene_symbol": "KIF4A",
"gene_hgnc_id": 13339,
"dbsnp": "rs1045363046",
"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": 0.8282585740089417,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.58,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5808,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.2,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.137,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_012310.5",
"gene_symbol": "KIF4A",
"hgnc_id": 13339,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL,Unknown",
"hgvs_c": "c.1745T>A",
"hgvs_p": "p.Leu582His"
}
],
"clinvar_disease": " X-linked 100,Intellectual disability,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided|Intellectual disability, X-linked 100",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}