← 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: 12-57581880-TC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=57581880&ref=TC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 57581880,
"ref": "TC",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "NM_004984.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5A",
"gene_hgnc_id": 6323,
"hgvs_c": "c.2922delC",
"hgvs_p": "p.Cys975fs",
"transcript": "NM_004984.4",
"protein_id": "NP_004975.2",
"transcript_support_level": null,
"aa_start": 974,
"aa_end": null,
"aa_length": 1032,
"cds_start": 2922,
"cds_end": null,
"cds_length": 3099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000455537.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004984.4"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5A",
"gene_hgnc_id": 6323,
"hgvs_c": "c.2922delC",
"hgvs_p": "p.Cys975fs",
"transcript": "ENST00000455537.7",
"protein_id": "ENSP00000408979.2",
"transcript_support_level": 1,
"aa_start": 974,
"aa_end": null,
"aa_length": 1032,
"cds_start": 2922,
"cds_end": null,
"cds_length": 3099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004984.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455537.7"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5A",
"gene_hgnc_id": 6323,
"hgvs_c": "c.2943delC",
"hgvs_p": "p.Cys982fs",
"transcript": "ENST00000674619.1",
"protein_id": "ENSP00000502270.1",
"transcript_support_level": null,
"aa_start": 981,
"aa_end": null,
"aa_length": 1039,
"cds_start": 2943,
"cds_end": null,
"cds_length": 3120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674619.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5A",
"gene_hgnc_id": 6323,
"hgvs_c": "c.2922delC",
"hgvs_p": "p.Cys975fs",
"transcript": "ENST00000938849.1",
"protein_id": "ENSP00000608908.1",
"transcript_support_level": null,
"aa_start": 974,
"aa_end": null,
"aa_length": 1032,
"cds_start": 2922,
"cds_end": null,
"cds_length": 3099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938849.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5A",
"gene_hgnc_id": 6323,
"hgvs_c": "c.2919delC",
"hgvs_p": "p.Cys974fs",
"transcript": "ENST00000910206.1",
"protein_id": "ENSP00000580265.1",
"transcript_support_level": null,
"aa_start": 973,
"aa_end": null,
"aa_length": 1031,
"cds_start": 2919,
"cds_end": null,
"cds_length": 3096,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910206.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5A",
"gene_hgnc_id": 6323,
"hgvs_c": "c.2919delC",
"hgvs_p": "p.Cys974fs",
"transcript": "ENST00000910207.1",
"protein_id": "ENSP00000580266.1",
"transcript_support_level": null,
"aa_start": 973,
"aa_end": null,
"aa_length": 1031,
"cds_start": 2919,
"cds_end": null,
"cds_length": 3096,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910207.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5A",
"gene_hgnc_id": 6323,
"hgvs_c": "c.2817delC",
"hgvs_p": "p.Cys940fs",
"transcript": "ENST00000676457.1",
"protein_id": "ENSP00000501588.1",
"transcript_support_level": null,
"aa_start": 939,
"aa_end": null,
"aa_length": 997,
"cds_start": 2817,
"cds_end": null,
"cds_length": 2994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676457.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5A",
"gene_hgnc_id": 6323,
"hgvs_c": "c.2655delC",
"hgvs_p": "p.Cys886fs",
"transcript": "NM_001354705.2",
"protein_id": "NP_001341634.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 943,
"cds_start": 2655,
"cds_end": null,
"cds_length": 2832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354705.2"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5A",
"gene_hgnc_id": 6323,
"hgvs_c": "c.2655delC",
"hgvs_p": "p.Cys886fs",
"transcript": "ENST00000286452.5",
"protein_id": "ENSP00000286452.5",
"transcript_support_level": 2,
"aa_start": 885,
"aa_end": null,
"aa_length": 943,
"cds_start": 2655,
"cds_end": null,
"cds_length": 2832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000286452.5"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5A",
"gene_hgnc_id": 6323,
"hgvs_c": "c.12delC",
"hgvs_p": "p.Cys5fs",
"transcript": "ENST00000675697.1",
"protein_id": "ENSP00000501809.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 67,
"cds_start": 12,
"cds_end": null,
"cds_length": 204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675697.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5A",
"gene_hgnc_id": 6323,
"hgvs_c": "c.12delC",
"hgvs_p": "p.Cys5fs",
"transcript": "ENST00000676055.1",
"protein_id": "ENSP00000501739.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 31,
"cds_start": 12,
"cds_end": null,
"cds_length": 98,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676055.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5A",
"gene_hgnc_id": 6323,
"hgvs_c": "n.205delC",
"hgvs_p": null,
"transcript": "ENST00000552227.1",
"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": "retained_intron",
"feature": "ENST00000552227.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5A",
"gene_hgnc_id": 6323,
"hgvs_c": "n.326delC",
"hgvs_p": null,
"transcript": "ENST00000675737.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000675737.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5A",
"gene_hgnc_id": 6323,
"hgvs_c": "n.2445delC",
"hgvs_p": null,
"transcript": "ENST00000675882.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000675882.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5A",
"gene_hgnc_id": 6323,
"hgvs_c": "n.1480delC",
"hgvs_p": null,
"transcript": "ENST00000675929.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000675929.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5A",
"gene_hgnc_id": 6323,
"hgvs_c": "c.-56delC",
"hgvs_p": null,
"transcript": "ENST00000676437.1",
"protein_id": "ENSP00000502358.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 113,
"cds_start": null,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676437.1"
}
],
"gene_symbol": "KIF5A",
"gene_hgnc_id": 6323,
"dbsnp": "rs1057517673",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.09000000357627869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.451,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.09,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "NM_004984.4",
"gene_symbol": "KIF5A",
"hgnc_id": 6323,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2922delC",
"hgvs_p": "p.Cys975fs"
}
],
"clinvar_disease": " intractable, neonatal,Myoclonus",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Myoclonus, intractable, neonatal",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}