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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: X-70297148-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=70297148&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 70297148,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_012310.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF4A",
"gene_hgnc_id": 13339,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Lys129Arg",
"transcript": "NM_012310.5",
"protein_id": "NP_036442.3",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 1232,
"cds_start": 386,
"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": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF4A",
"gene_hgnc_id": 13339,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Lys129Arg",
"transcript": "ENST00000374403.4",
"protein_id": "ENSP00000363524.3",
"transcript_support_level": 1,
"aa_start": 129,
"aa_end": null,
"aa_length": 1232,
"cds_start": 386,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF4A",
"gene_hgnc_id": 13339,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Lys129Arg",
"transcript": "ENST00000924316.1",
"protein_id": "ENSP00000594375.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 1260,
"cds_start": 386,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF4A",
"gene_hgnc_id": 13339,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Lys129Arg",
"transcript": "ENST00000859344.1",
"protein_id": "ENSP00000529403.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 1249,
"cds_start": 386,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF4A",
"gene_hgnc_id": 13339,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Lys129Arg",
"transcript": "ENST00000859345.1",
"protein_id": "ENSP00000529404.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 1232,
"cds_start": 386,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF4A",
"gene_hgnc_id": 13339,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Lys129Arg",
"transcript": "ENST00000924311.1",
"protein_id": "ENSP00000594370.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 1232,
"cds_start": 386,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF4A",
"gene_hgnc_id": 13339,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Lys129Arg",
"transcript": "ENST00000924315.1",
"protein_id": "ENSP00000594374.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 1232,
"cds_start": 386,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF4A",
"gene_hgnc_id": 13339,
"hgvs_c": "c.323A>G",
"hgvs_p": "p.Lys108Arg",
"transcript": "ENST00000924309.1",
"protein_id": "ENSP00000594368.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 1211,
"cds_start": 323,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF4A",
"gene_hgnc_id": 13339,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Lys129Arg",
"transcript": "ENST00000859346.1",
"protein_id": "ENSP00000529405.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 1200,
"cds_start": 386,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF4A",
"gene_hgnc_id": 13339,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Lys129Arg",
"transcript": "ENST00000924314.1",
"protein_id": "ENSP00000594373.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 1200,
"cds_start": 386,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF4A",
"gene_hgnc_id": 13339,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Lys129Arg",
"transcript": "ENST00000924313.1",
"protein_id": "ENSP00000594372.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 1196,
"cds_start": 386,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF4A",
"gene_hgnc_id": 13339,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Lys129Arg",
"transcript": "ENST00000924310.1",
"protein_id": "ENSP00000594369.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 1193,
"cds_start": 386,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF4A",
"gene_hgnc_id": 13339,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Lys129Arg",
"transcript": "ENST00000924308.1",
"protein_id": "ENSP00000594367.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 1191,
"cds_start": 386,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF4A",
"gene_hgnc_id": 13339,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Lys129Arg",
"transcript": "ENST00000924312.1",
"protein_id": "ENSP00000594371.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 1139,
"cds_start": 386,
"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"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF4A",
"gene_hgnc_id": 13339,
"hgvs_c": "n.631A>G",
"hgvs_p": null,
"transcript": "ENST00000485406.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "pseudogene",
"feature": "ENST00000485406.1"
}
],
"gene_symbol": "KIF4A",
"gene_hgnc_id": 13339,
"dbsnp": "rs772129850",
"frequency_reference_population": 0.000017366796,
"hom_count_reference_population": 7,
"allele_count_reference_population": 21,
"gnomad_exomes_af": 0.0000173265,
"gnomad_genomes_af": 0.0000177593,
"gnomad_exomes_ac": 19,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05472302436828613,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.103,
"revel_prediction": "Benign",
"alphamissense_score": 0.065,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.889,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_012310.5",
"gene_symbol": "KIF4A",
"hgnc_id": 13339,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,XL",
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Lys129Arg"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}