← 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: 1-200606666-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=200606666&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 200606666,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000367350.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.1607+80T>C",
"hgvs_p": null,
"transcript": "NM_014875.3",
"protein_id": "NP_055690.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1648,
"cds_start": -4,
"cds_end": null,
"cds_length": 4947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7291,
"mane_select": "ENST00000367350.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.1607+80T>C",
"hgvs_p": null,
"transcript": "ENST00000367350.5",
"protein_id": "ENSP00000356319.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1648,
"cds_start": -4,
"cds_end": null,
"cds_length": 4947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7291,
"mane_select": "NM_014875.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.1607+80T>C",
"hgvs_p": null,
"transcript": "ENST00000614960.4",
"protein_id": "ENSP00000483069.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1648,
"cds_start": -4,
"cds_end": null,
"cds_length": 4947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.134+80T>C",
"hgvs_p": null,
"transcript": "NM_001305792.1",
"protein_id": "NP_001292721.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1157,
"cds_start": -4,
"cds_end": null,
"cds_length": 3474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.1607+80T>C",
"hgvs_p": null,
"transcript": "XM_011510231.3",
"protein_id": "XP_011508533.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1648,
"cds_start": -4,
"cds_end": null,
"cds_length": 4947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.1607+80T>C",
"hgvs_p": null,
"transcript": "XM_011510232.3",
"protein_id": "XP_011508534.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1648,
"cds_start": -4,
"cds_end": null,
"cds_length": 4947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.1523+80T>C",
"hgvs_p": null,
"transcript": "XM_011510233.3",
"protein_id": "XP_011508535.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1620,
"cds_start": -4,
"cds_end": null,
"cds_length": 4863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.1523+80T>C",
"hgvs_p": null,
"transcript": "XM_047436181.1",
"protein_id": "XP_047292137.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1620,
"cds_start": -4,
"cds_end": null,
"cds_length": 4863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.1523+80T>C",
"hgvs_p": null,
"transcript": "XM_047436184.1",
"protein_id": "XP_047292140.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1620,
"cds_start": -4,
"cds_end": null,
"cds_length": 4863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.1523+80T>C",
"hgvs_p": null,
"transcript": "XM_047436190.1",
"protein_id": "XP_047292146.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1620,
"cds_start": -4,
"cds_end": null,
"cds_length": 4863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.1478+80T>C",
"hgvs_p": null,
"transcript": "XM_017003006.2",
"protein_id": "XP_016858495.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1605,
"cds_start": -4,
"cds_end": null,
"cds_length": 4818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.1394+80T>C",
"hgvs_p": null,
"transcript": "XM_047436195.1",
"protein_id": "XP_047292151.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1577,
"cds_start": -4,
"cds_end": null,
"cds_length": 4734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.1235+80T>C",
"hgvs_p": null,
"transcript": "XM_011510235.3",
"protein_id": "XP_011508537.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1524,
"cds_start": -4,
"cds_end": null,
"cds_length": 4575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.1235+80T>C",
"hgvs_p": null,
"transcript": "XM_047436197.1",
"protein_id": "XP_047292153.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1524,
"cds_start": -4,
"cds_end": null,
"cds_length": 4575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.1235+80T>C",
"hgvs_p": null,
"transcript": "XM_047436198.1",
"protein_id": "XP_047292154.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1524,
"cds_start": -4,
"cds_end": null,
"cds_length": 4575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.1106+80T>C",
"hgvs_p": null,
"transcript": "XM_047436199.1",
"protein_id": "XP_047292155.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1481,
"cds_start": -4,
"cds_end": null,
"cds_length": 4446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.1040+80T>C",
"hgvs_p": null,
"transcript": "XM_017003007.2",
"protein_id": "XP_016858496.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1459,
"cds_start": -4,
"cds_end": null,
"cds_length": 4380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"dbsnp": "rs2794410",
"frequency_reference_population": 0.3338135,
"hom_count_reference_population": 71262,
"allele_count_reference_population": 411795,
"gnomad_exomes_af": 0.333541,
"gnomad_genomes_af": 0.335753,
"gnomad_exomes_ac": 360768,
"gnomad_genomes_ac": 51027,
"gnomad_exomes_homalt": 62450,
"gnomad_genomes_homalt": 8812,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8700000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.87,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.008,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000367350.5",
"gene_symbol": "KIF14",
"hgnc_id": 19181,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1607+80T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}