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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: 1-200598303-CCAA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=200598303&ref=CCAA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 200598303,
"ref": "CCAA",
"alt": "C",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000367350.5",
"consequences": [
{
"aa_ref": "VG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.2480_2482delTTG",
"hgvs_p": "p.Val827del",
"transcript": "NM_014875.3",
"protein_id": "NP_055690.1",
"transcript_support_level": null,
"aa_start": 827,
"aa_end": null,
"aa_length": 1648,
"cds_start": 2480,
"cds_end": null,
"cds_length": 4947,
"cdna_start": 2938,
"cdna_end": null,
"cdna_length": 7291,
"mane_select": "ENST00000367350.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VG",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.2480_2482delTTG",
"hgvs_p": "p.Val827del",
"transcript": "ENST00000367350.5",
"protein_id": "ENSP00000356319.4",
"transcript_support_level": 2,
"aa_start": 827,
"aa_end": null,
"aa_length": 1648,
"cds_start": 2480,
"cds_end": null,
"cds_length": 4947,
"cdna_start": 2938,
"cdna_end": null,
"cdna_length": 7291,
"mane_select": "NM_014875.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.2480_2482delTTG",
"hgvs_p": "p.Val827del",
"transcript": "ENST00000614960.4",
"protein_id": "ENSP00000483069.1",
"transcript_support_level": 1,
"aa_start": 827,
"aa_end": null,
"aa_length": 1648,
"cds_start": 2480,
"cds_end": null,
"cds_length": 4947,
"cdna_start": 2482,
"cdna_end": null,
"cdna_length": 6838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.1007_1009delTTG",
"hgvs_p": "p.Val336del",
"transcript": "NM_001305792.1",
"protein_id": "NP_001292721.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 1157,
"cds_start": 1007,
"cds_end": null,
"cds_length": 3474,
"cdna_start": 2509,
"cdna_end": null,
"cdna_length": 6865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.2480_2482delTTG",
"hgvs_p": "p.Val827del",
"transcript": "XM_011510231.3",
"protein_id": "XP_011508533.1",
"transcript_support_level": null,
"aa_start": 827,
"aa_end": null,
"aa_length": 1648,
"cds_start": 2480,
"cds_end": null,
"cds_length": 4947,
"cdna_start": 3061,
"cdna_end": null,
"cdna_length": 7417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.2480_2482delTTG",
"hgvs_p": "p.Val827del",
"transcript": "XM_011510232.3",
"protein_id": "XP_011508534.1",
"transcript_support_level": null,
"aa_start": 827,
"aa_end": null,
"aa_length": 1648,
"cds_start": 2480,
"cds_end": null,
"cds_length": 4947,
"cdna_start": 2637,
"cdna_end": null,
"cdna_length": 6993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.2396_2398delTTG",
"hgvs_p": "p.Val799del",
"transcript": "XM_011510233.3",
"protein_id": "XP_011508535.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 1620,
"cds_start": 2396,
"cds_end": null,
"cds_length": 4863,
"cdna_start": 2854,
"cdna_end": null,
"cdna_length": 7210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.2396_2398delTTG",
"hgvs_p": "p.Val799del",
"transcript": "XM_047436181.1",
"protein_id": "XP_047292137.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 1620,
"cds_start": 2396,
"cds_end": null,
"cds_length": 4863,
"cdna_start": 2977,
"cdna_end": null,
"cdna_length": 7333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.2396_2398delTTG",
"hgvs_p": "p.Val799del",
"transcript": "XM_047436184.1",
"protein_id": "XP_047292140.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 1620,
"cds_start": 2396,
"cds_end": null,
"cds_length": 4863,
"cdna_start": 4426,
"cdna_end": null,
"cdna_length": 8782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.2396_2398delTTG",
"hgvs_p": "p.Val799del",
"transcript": "XM_047436190.1",
"protein_id": "XP_047292146.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 1620,
"cds_start": 2396,
"cds_end": null,
"cds_length": 4863,
"cdna_start": 2553,
"cdna_end": null,
"cdna_length": 6909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.2351_2353delTTG",
"hgvs_p": "p.Val784del",
"transcript": "XM_017003006.2",
"protein_id": "XP_016858495.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 1605,
"cds_start": 2351,
"cds_end": null,
"cds_length": 4818,
"cdna_start": 2752,
"cdna_end": null,
"cdna_length": 7108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.2267_2269delTTG",
"hgvs_p": "p.Val756del",
"transcript": "XM_047436195.1",
"protein_id": "XP_047292151.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 1577,
"cds_start": 2267,
"cds_end": null,
"cds_length": 4734,
"cdna_start": 2668,
"cdna_end": null,
"cdna_length": 7024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.2108_2110delTTG",
"hgvs_p": "p.Val703del",
"transcript": "XM_011510235.3",
"protein_id": "XP_011508537.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 1524,
"cds_start": 2108,
"cds_end": null,
"cds_length": 4575,
"cdna_start": 2566,
"cdna_end": null,
"cdna_length": 6922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.2108_2110delTTG",
"hgvs_p": "p.Val703del",
"transcript": "XM_047436197.1",
"protein_id": "XP_047292153.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 1524,
"cds_start": 2108,
"cds_end": null,
"cds_length": 4575,
"cdna_start": 4138,
"cdna_end": null,
"cdna_length": 8494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.2108_2110delTTG",
"hgvs_p": "p.Val703del",
"transcript": "XM_047436198.1",
"protein_id": "XP_047292154.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 1524,
"cds_start": 2108,
"cds_end": null,
"cds_length": 4575,
"cdna_start": 2265,
"cdna_end": null,
"cdna_length": 6621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.1979_1981delTTG",
"hgvs_p": "p.Val660del",
"transcript": "XM_047436199.1",
"protein_id": "XP_047292155.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 1481,
"cds_start": 1979,
"cds_end": null,
"cds_length": 4446,
"cdna_start": 2380,
"cdna_end": null,
"cdna_length": 6736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.1913_1915delTTG",
"hgvs_p": "p.Val638del",
"transcript": "XM_017003007.2",
"protein_id": "XP_016858496.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 1459,
"cds_start": 1913,
"cds_end": null,
"cds_length": 4380,
"cdna_start": 2279,
"cdna_end": null,
"cdna_length": 6635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"dbsnp": "rs1553259539",
"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": 0.019999999552965164,
"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": 8.947,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"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": "Uncertain_significance",
"acmg_criteria": "PM2,PM4_Supporting,PP5",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PM4_Supporting",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000367350.5",
"gene_symbol": "KIF14",
"hgnc_id": 19181,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2480_2482delTTG",
"hgvs_p": "p.Val827del"
}
],
"clinvar_disease": " autosomal recessive, primary,Microcephaly 20",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Microcephaly 20, primary, autosomal recessive",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}