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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: 5-138179815-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=138179815&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 138179815,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_005733.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF20A",
"gene_hgnc_id": 9787,
"hgvs_c": "c.135C>T",
"hgvs_p": "p.Val45Val",
"transcript": "NM_005733.3",
"protein_id": "NP_005724.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 890,
"cds_start": 135,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394894.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005733.3"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF20A",
"gene_hgnc_id": 9787,
"hgvs_c": "c.135C>T",
"hgvs_p": "p.Val45Val",
"transcript": "ENST00000394894.8",
"protein_id": "ENSP00000378356.3",
"transcript_support_level": 1,
"aa_start": 45,
"aa_end": null,
"aa_length": 890,
"cds_start": 135,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005733.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394894.8"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF20A",
"gene_hgnc_id": 9787,
"hgvs_c": "c.135C>T",
"hgvs_p": "p.Val45Val",
"transcript": "ENST00000927201.1",
"protein_id": "ENSP00000597260.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 890,
"cds_start": 135,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927201.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF20A",
"gene_hgnc_id": 9787,
"hgvs_c": "c.135C>T",
"hgvs_p": "p.Val45Val",
"transcript": "ENST00000927194.1",
"protein_id": "ENSP00000597253.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 889,
"cds_start": 135,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927194.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF20A",
"gene_hgnc_id": 9787,
"hgvs_c": "c.135C>T",
"hgvs_p": "p.Val45Val",
"transcript": "ENST00000927195.1",
"protein_id": "ENSP00000597254.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 889,
"cds_start": 135,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927195.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF20A",
"gene_hgnc_id": 9787,
"hgvs_c": "c.135C>T",
"hgvs_p": "p.Val45Val",
"transcript": "ENST00000927198.1",
"protein_id": "ENSP00000597257.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 889,
"cds_start": 135,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927198.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF20A",
"gene_hgnc_id": 9787,
"hgvs_c": "c.135C>T",
"hgvs_p": "p.Val45Val",
"transcript": "ENST00000927193.1",
"protein_id": "ENSP00000597252.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 888,
"cds_start": 135,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927193.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF20A",
"gene_hgnc_id": 9787,
"hgvs_c": "c.135C>T",
"hgvs_p": "p.Val45Val",
"transcript": "ENST00000927196.1",
"protein_id": "ENSP00000597255.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 888,
"cds_start": 135,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927196.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF20A",
"gene_hgnc_id": 9787,
"hgvs_c": "c.135C>T",
"hgvs_p": "p.Val45Val",
"transcript": "ENST00000927200.1",
"protein_id": "ENSP00000597259.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 876,
"cds_start": 135,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927200.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF20A",
"gene_hgnc_id": 9787,
"hgvs_c": "c.135C>T",
"hgvs_p": "p.Val45Val",
"transcript": "ENST00000508792.5",
"protein_id": "ENSP00000420880.1",
"transcript_support_level": 2,
"aa_start": 45,
"aa_end": null,
"aa_length": 872,
"cds_start": 135,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508792.5"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF20A",
"gene_hgnc_id": 9787,
"hgvs_c": "c.135C>T",
"hgvs_p": "p.Val45Val",
"transcript": "ENST00000927199.1",
"protein_id": "ENSP00000597258.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 850,
"cds_start": 135,
"cds_end": null,
"cds_length": 2553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927199.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF20A",
"gene_hgnc_id": 9787,
"hgvs_c": "c.135C>T",
"hgvs_p": "p.Val45Val",
"transcript": "ENST00000927197.1",
"protein_id": "ENSP00000597256.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 835,
"cds_start": 135,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927197.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF20A",
"gene_hgnc_id": 9787,
"hgvs_c": "c.135C>T",
"hgvs_p": "p.Val45Val",
"transcript": "ENST00000927202.1",
"protein_id": "ENSP00000597261.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 793,
"cds_start": 135,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927202.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF20A",
"gene_hgnc_id": 9787,
"hgvs_c": "c.135C>T",
"hgvs_p": "p.Val45Val",
"transcript": "ENST00000504621.1",
"protein_id": "ENSP00000424056.1",
"transcript_support_level": 3,
"aa_start": 45,
"aa_end": null,
"aa_length": 224,
"cds_start": 135,
"cds_end": null,
"cds_length": 676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504621.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF20A",
"gene_hgnc_id": 9787,
"hgvs_c": "c.135C>T",
"hgvs_p": "p.Val45Val",
"transcript": "ENST00000513276.5",
"protein_id": "ENSP00000422928.1",
"transcript_support_level": 4,
"aa_start": 45,
"aa_end": null,
"aa_length": 158,
"cds_start": 135,
"cds_end": null,
"cds_length": 478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513276.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF20A",
"gene_hgnc_id": 9787,
"hgvs_c": "n.190C>T",
"hgvs_p": null,
"transcript": "ENST00000503417.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000503417.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF20A",
"gene_hgnc_id": 9787,
"hgvs_c": "n.648C>T",
"hgvs_p": null,
"transcript": "ENST00000511638.5",
"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": "ENST00000511638.5"
}
],
"gene_symbol": "KIF20A",
"gene_hgnc_id": 9787,
"dbsnp": "rs138569484",
"frequency_reference_population": 0.000023257913,
"hom_count_reference_population": 0,
"allele_count_reference_population": 34,
"gnomad_exomes_af": 0.0000232579,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 34,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3199999928474426,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.11999999731779099,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.593,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.12,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_005733.3",
"gene_symbol": "KIF20A",
"hgnc_id": 9787,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.135C>T",
"hgvs_p": "p.Val45Val"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}