← 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: 1-43653253-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=43653253&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 43653253,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014663.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM4A",
"gene_hgnc_id": 22978,
"hgvs_c": "c.78C>A",
"hgvs_p": "p.Asn26Lys",
"transcript": "NM_014663.3",
"protein_id": "NP_055478.2",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 1064,
"cds_start": 78,
"cds_end": null,
"cds_length": 3195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372396.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014663.3"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM4A",
"gene_hgnc_id": 22978,
"hgvs_c": "c.78C>A",
"hgvs_p": "p.Asn26Lys",
"transcript": "ENST00000372396.4",
"protein_id": "ENSP00000361473.3",
"transcript_support_level": 1,
"aa_start": 26,
"aa_end": null,
"aa_length": 1064,
"cds_start": 78,
"cds_end": null,
"cds_length": 3195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014663.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372396.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284989",
"gene_hgnc_id": null,
"hgvs_c": "n.78C>A",
"hgvs_p": null,
"transcript": "ENST00000645057.1",
"protein_id": "ENSP00000494063.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000645057.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM4A",
"gene_hgnc_id": 22978,
"hgvs_c": "c.78C>A",
"hgvs_p": "p.Asn26Lys",
"transcript": "ENST00000951155.1",
"protein_id": "ENSP00000621214.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 1098,
"cds_start": 78,
"cds_end": null,
"cds_length": 3297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951155.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM4A",
"gene_hgnc_id": 22978,
"hgvs_c": "c.78C>A",
"hgvs_p": "p.Asn26Lys",
"transcript": "ENST00000883347.1",
"protein_id": "ENSP00000553406.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 1084,
"cds_start": 78,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883347.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM4A",
"gene_hgnc_id": 22978,
"hgvs_c": "c.78C>A",
"hgvs_p": "p.Asn26Lys",
"transcript": "ENST00000883349.1",
"protein_id": "ENSP00000553408.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 1084,
"cds_start": 78,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883349.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM4A",
"gene_hgnc_id": 22978,
"hgvs_c": "c.78C>A",
"hgvs_p": "p.Asn26Lys",
"transcript": "ENST00000883345.1",
"protein_id": "ENSP00000553404.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 1064,
"cds_start": 78,
"cds_end": null,
"cds_length": 3195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883345.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM4A",
"gene_hgnc_id": 22978,
"hgvs_c": "c.78C>A",
"hgvs_p": "p.Asn26Lys",
"transcript": "ENST00000883346.1",
"protein_id": "ENSP00000553405.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 1064,
"cds_start": 78,
"cds_end": null,
"cds_length": 3195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883346.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM4A",
"gene_hgnc_id": 22978,
"hgvs_c": "c.78C>A",
"hgvs_p": "p.Asn26Lys",
"transcript": "ENST00000883350.1",
"protein_id": "ENSP00000553409.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 1064,
"cds_start": 78,
"cds_end": null,
"cds_length": 3195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883350.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM4A",
"gene_hgnc_id": 22978,
"hgvs_c": "c.78C>A",
"hgvs_p": "p.Asn26Lys",
"transcript": "ENST00000924788.1",
"protein_id": "ENSP00000594847.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 1064,
"cds_start": 78,
"cds_end": null,
"cds_length": 3195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924788.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM4A",
"gene_hgnc_id": 22978,
"hgvs_c": "c.78C>A",
"hgvs_p": "p.Asn26Lys",
"transcript": "ENST00000951154.1",
"protein_id": "ENSP00000621213.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 1064,
"cds_start": 78,
"cds_end": null,
"cds_length": 3195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951154.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM4A",
"gene_hgnc_id": 22978,
"hgvs_c": "c.78C>A",
"hgvs_p": "p.Asn26Lys",
"transcript": "ENST00000883343.1",
"protein_id": "ENSP00000553402.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 1063,
"cds_start": 78,
"cds_end": null,
"cds_length": 3192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883343.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM4A",
"gene_hgnc_id": 22978,
"hgvs_c": "c.78C>A",
"hgvs_p": "p.Asn26Lys",
"transcript": "ENST00000924789.1",
"protein_id": "ENSP00000594848.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 1063,
"cds_start": 78,
"cds_end": null,
"cds_length": 3192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924789.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM4A",
"gene_hgnc_id": 22978,
"hgvs_c": "c.78C>A",
"hgvs_p": "p.Asn26Lys",
"transcript": "ENST00000883344.1",
"protein_id": "ENSP00000553403.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 1037,
"cds_start": 78,
"cds_end": null,
"cds_length": 3114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883344.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM4A",
"gene_hgnc_id": 22978,
"hgvs_c": "c.78C>A",
"hgvs_p": "p.Asn26Lys",
"transcript": "ENST00000924787.1",
"protein_id": "ENSP00000594846.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 973,
"cds_start": 78,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924787.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM4A",
"gene_hgnc_id": 22978,
"hgvs_c": "c.78C>A",
"hgvs_p": "p.Asn26Lys",
"transcript": "ENST00000883348.1",
"protein_id": "ENSP00000553407.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 894,
"cds_start": 78,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883348.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM4A",
"gene_hgnc_id": 22978,
"hgvs_c": "c.78C>A",
"hgvs_p": "p.Asn26Lys",
"transcript": "ENST00000463151.5",
"protein_id": "ENSP00000493741.1",
"transcript_support_level": 5,
"aa_start": 26,
"aa_end": null,
"aa_length": 280,
"cds_start": 78,
"cds_end": null,
"cds_length": 845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000463151.5"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM4A",
"gene_hgnc_id": 22978,
"hgvs_c": "n.-55C>A",
"hgvs_p": null,
"transcript": "ENST00000485249.1",
"protein_id": "ENSP00000496362.1",
"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": "ENST00000485249.1"
}
],
"gene_symbol": "KDM4A",
"gene_hgnc_id": 22978,
"dbsnp": "rs959919828",
"frequency_reference_population": 0.0000037178177,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000342068,
"gnomad_genomes_af": 0.00000657229,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.37564927339553833,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.163,
"revel_prediction": "Benign",
"alphamissense_score": 0.5307,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.769,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_014663.3",
"gene_symbol": "KDM4A",
"hgnc_id": 22978,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.78C>A",
"hgvs_p": "p.Asn26Lys"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000645057.1",
"gene_symbol": "ENSG00000284989",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.78C>A",
"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
}