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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: 1-200996249-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=200996249&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 200996249,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000461742.7",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF21B",
"gene_hgnc_id": 29442,
"hgvs_c": "c.2224G>A",
"hgvs_p": "p.Glu742Lys",
"transcript": "NM_001252102.2",
"protein_id": "NP_001239031.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 1623,
"cds_start": 2224,
"cds_end": null,
"cds_length": 4872,
"cdna_start": 2555,
"cdna_end": null,
"cdna_length": 9334,
"mane_select": "ENST00000461742.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF21B",
"gene_hgnc_id": 29442,
"hgvs_c": "c.2224G>A",
"hgvs_p": "p.Glu742Lys",
"transcript": "ENST00000461742.7",
"protein_id": "ENSP00000433808.1",
"transcript_support_level": 1,
"aa_start": 742,
"aa_end": null,
"aa_length": 1623,
"cds_start": 2224,
"cds_end": null,
"cds_length": 4872,
"cdna_start": 2555,
"cdna_end": null,
"cdna_length": 9334,
"mane_select": "NM_001252102.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF21B",
"gene_hgnc_id": 29442,
"hgvs_c": "c.2224G>A",
"hgvs_p": "p.Glu742Lys",
"transcript": "ENST00000422435.2",
"protein_id": "ENSP00000411831.2",
"transcript_support_level": 1,
"aa_start": 742,
"aa_end": null,
"aa_length": 1637,
"cds_start": 2224,
"cds_end": null,
"cds_length": 4914,
"cdna_start": 2541,
"cdna_end": null,
"cdna_length": 5519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF21B",
"gene_hgnc_id": 29442,
"hgvs_c": "c.2224G>A",
"hgvs_p": "p.Glu742Lys",
"transcript": "ENST00000332129.6",
"protein_id": "ENSP00000328494.2",
"transcript_support_level": 1,
"aa_start": 742,
"aa_end": null,
"aa_length": 1624,
"cds_start": 2224,
"cds_end": null,
"cds_length": 4875,
"cdna_start": 2541,
"cdna_end": null,
"cdna_length": 9897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF21B",
"gene_hgnc_id": 29442,
"hgvs_c": "c.2224G>A",
"hgvs_p": "p.Glu742Lys",
"transcript": "ENST00000360529.9",
"protein_id": "ENSP00000353724.5",
"transcript_support_level": 1,
"aa_start": 742,
"aa_end": null,
"aa_length": 1610,
"cds_start": 2224,
"cds_end": null,
"cds_length": 4833,
"cdna_start": 2249,
"cdna_end": null,
"cdna_length": 5389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF21B",
"gene_hgnc_id": 29442,
"hgvs_c": "c.2224G>A",
"hgvs_p": "p.Glu742Lys",
"transcript": "NM_001252100.2",
"protein_id": "NP_001239029.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 1637,
"cds_start": 2224,
"cds_end": null,
"cds_length": 4914,
"cdna_start": 2555,
"cdna_end": null,
"cdna_length": 9950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF21B",
"gene_hgnc_id": 29442,
"hgvs_c": "c.2224G>A",
"hgvs_p": "p.Glu742Lys",
"transcript": "NM_017596.4",
"protein_id": "NP_060066.2",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 1624,
"cds_start": 2224,
"cds_end": null,
"cds_length": 4875,
"cdna_start": 2555,
"cdna_end": null,
"cdna_length": 9911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF21B",
"gene_hgnc_id": 29442,
"hgvs_c": "c.2224G>A",
"hgvs_p": "p.Glu742Lys",
"transcript": "NM_001252103.2",
"protein_id": "NP_001239032.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 1610,
"cds_start": 2224,
"cds_end": null,
"cds_length": 4833,
"cdna_start": 2555,
"cdna_end": null,
"cdna_length": 9295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF21B",
"gene_hgnc_id": 29442,
"hgvs_c": "c.2056G>A",
"hgvs_p": "p.Glu686Lys",
"transcript": "XM_017000731.2",
"protein_id": "XP_016856220.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 1581,
"cds_start": 2056,
"cds_end": null,
"cds_length": 4746,
"cdna_start": 2387,
"cdna_end": null,
"cdna_length": 5168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF21B",
"gene_hgnc_id": 29442,
"hgvs_c": "c.1021G>A",
"hgvs_p": "p.Glu341Lys",
"transcript": "XM_017000732.2",
"protein_id": "XP_016856221.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 1236,
"cds_start": 1021,
"cds_end": null,
"cds_length": 3711,
"cdna_start": 1105,
"cdna_end": null,
"cdna_length": 3886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF21B",
"gene_hgnc_id": 29442,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Glu169Lys",
"transcript": "XM_047449818.1",
"protein_id": "XP_047305774.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1064,
"cds_start": 505,
"cds_end": null,
"cds_length": 3195,
"cdna_start": 657,
"cdna_end": null,
"cdna_length": 3438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KIF21B",
"gene_hgnc_id": 29442,
"dbsnp": "rs750865418",
"frequency_reference_population": 0.00001672962,
"hom_count_reference_population": 0,
"allele_count_reference_population": 27,
"gnomad_exomes_af": 0.000017103,
"gnomad_genomes_af": 0.0000131428,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.44901663064956665,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.229,
"revel_prediction": "Benign",
"alphamissense_score": 0.9033,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.824,
"phylop100way_prediction": "Pathogenic",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000461742.7",
"gene_symbol": "KIF21B",
"hgnc_id": 29442,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2224G>A",
"hgvs_p": "p.Glu742Lys"
}
],
"clinvar_disease": "Long QT syndrome,See cases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Long QT syndrome|See cases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}