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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: 1-200603922-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=200603922&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 200603922,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_014875.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.1780A>G",
"hgvs_p": "p.Arg594Gly",
"transcript": "NM_014875.3",
"protein_id": "NP_055690.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 1648,
"cds_start": 1780,
"cds_end": null,
"cds_length": 4947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367350.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014875.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.1780A>G",
"hgvs_p": "p.Arg594Gly",
"transcript": "ENST00000367350.5",
"protein_id": "ENSP00000356319.4",
"transcript_support_level": 2,
"aa_start": 594,
"aa_end": null,
"aa_length": 1648,
"cds_start": 1780,
"cds_end": null,
"cds_length": 4947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014875.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367350.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.1780A>G",
"hgvs_p": "p.Arg594Gly",
"transcript": "ENST00000614960.4",
"protein_id": "ENSP00000483069.1",
"transcript_support_level": 1,
"aa_start": 594,
"aa_end": null,
"aa_length": 1648,
"cds_start": 1780,
"cds_end": null,
"cds_length": 4947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614960.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.1780A>G",
"hgvs_p": "p.Arg594Gly",
"transcript": "ENST00000928797.1",
"protein_id": "ENSP00000598856.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 1687,
"cds_start": 1780,
"cds_end": null,
"cds_length": 5064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928797.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.1780A>G",
"hgvs_p": "p.Arg594Gly",
"transcript": "ENST00000928795.1",
"protein_id": "ENSP00000598854.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 1595,
"cds_start": 1780,
"cds_end": null,
"cds_length": 4788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928795.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.1780A>G",
"hgvs_p": "p.Arg594Gly",
"transcript": "ENST00000928796.1",
"protein_id": "ENSP00000598855.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 1595,
"cds_start": 1780,
"cds_end": null,
"cds_length": 4788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928796.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.307A>G",
"hgvs_p": "p.Arg103Gly",
"transcript": "NM_001305792.1",
"protein_id": "NP_001292721.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 1157,
"cds_start": 307,
"cds_end": null,
"cds_length": 3474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001305792.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.1780A>G",
"hgvs_p": "p.Arg594Gly",
"transcript": "XM_011510231.3",
"protein_id": "XP_011508533.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 1648,
"cds_start": 1780,
"cds_end": null,
"cds_length": 4947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510231.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.1780A>G",
"hgvs_p": "p.Arg594Gly",
"transcript": "XM_011510232.3",
"protein_id": "XP_011508534.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 1648,
"cds_start": 1780,
"cds_end": null,
"cds_length": 4947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510232.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.1696A>G",
"hgvs_p": "p.Arg566Gly",
"transcript": "XM_011510233.3",
"protein_id": "XP_011508535.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 1620,
"cds_start": 1696,
"cds_end": null,
"cds_length": 4863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510233.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.1696A>G",
"hgvs_p": "p.Arg566Gly",
"transcript": "XM_047436181.1",
"protein_id": "XP_047292137.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 1620,
"cds_start": 1696,
"cds_end": null,
"cds_length": 4863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436181.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.1696A>G",
"hgvs_p": "p.Arg566Gly",
"transcript": "XM_047436184.1",
"protein_id": "XP_047292140.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 1620,
"cds_start": 1696,
"cds_end": null,
"cds_length": 4863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436184.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.1696A>G",
"hgvs_p": "p.Arg566Gly",
"transcript": "XM_047436190.1",
"protein_id": "XP_047292146.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 1620,
"cds_start": 1696,
"cds_end": null,
"cds_length": 4863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436190.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.1651A>G",
"hgvs_p": "p.Arg551Gly",
"transcript": "XM_017003006.2",
"protein_id": "XP_016858495.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 1605,
"cds_start": 1651,
"cds_end": null,
"cds_length": 4818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003006.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.1567A>G",
"hgvs_p": "p.Arg523Gly",
"transcript": "XM_047436195.1",
"protein_id": "XP_047292151.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 1577,
"cds_start": 1567,
"cds_end": null,
"cds_length": 4734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436195.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.1408A>G",
"hgvs_p": "p.Arg470Gly",
"transcript": "XM_011510235.3",
"protein_id": "XP_011508537.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 1524,
"cds_start": 1408,
"cds_end": null,
"cds_length": 4575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510235.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.1408A>G",
"hgvs_p": "p.Arg470Gly",
"transcript": "XM_047436197.1",
"protein_id": "XP_047292153.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 1524,
"cds_start": 1408,
"cds_end": null,
"cds_length": 4575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436197.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.1408A>G",
"hgvs_p": "p.Arg470Gly",
"transcript": "XM_047436198.1",
"protein_id": "XP_047292154.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 1524,
"cds_start": 1408,
"cds_end": null,
"cds_length": 4575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436198.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.1279A>G",
"hgvs_p": "p.Arg427Gly",
"transcript": "XM_047436199.1",
"protein_id": "XP_047292155.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 1481,
"cds_start": 1279,
"cds_end": null,
"cds_length": 4446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436199.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.1213A>G",
"hgvs_p": "p.Arg405Gly",
"transcript": "XM_017003007.2",
"protein_id": "XP_016858496.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 1459,
"cds_start": 1213,
"cds_end": null,
"cds_length": 4380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003007.2"
}
],
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"dbsnp": "rs786201013",
"frequency_reference_population": 6.843587e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84359e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6322263479232788,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.365,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1759,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.03,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014875.3",
"gene_symbol": "KIF14",
"hgnc_id": 19181,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1780A>G",
"hgvs_p": "p.Arg594Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}