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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: 1-200565669-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=200565669&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 200565669,
"ref": "C",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_014875.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.3662G>T",
"hgvs_p": "p.Gly1221Val",
"transcript": "NM_014875.3",
"protein_id": "NP_055690.1",
"transcript_support_level": null,
"aa_start": 1221,
"aa_end": null,
"aa_length": 1648,
"cds_start": 3662,
"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": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.3662G>T",
"hgvs_p": "p.Gly1221Val",
"transcript": "ENST00000367350.5",
"protein_id": "ENSP00000356319.4",
"transcript_support_level": 2,
"aa_start": 1221,
"aa_end": null,
"aa_length": 1648,
"cds_start": 3662,
"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": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.3662G>T",
"hgvs_p": "p.Gly1221Val",
"transcript": "ENST00000614960.4",
"protein_id": "ENSP00000483069.1",
"transcript_support_level": 1,
"aa_start": 1221,
"aa_end": null,
"aa_length": 1648,
"cds_start": 3662,
"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": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.3779G>T",
"hgvs_p": "p.Gly1260Val",
"transcript": "ENST00000928797.1",
"protein_id": "ENSP00000598856.1",
"transcript_support_level": null,
"aa_start": 1260,
"aa_end": null,
"aa_length": 1687,
"cds_start": 3779,
"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": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.3662G>T",
"hgvs_p": "p.Gly1221Val",
"transcript": "ENST00000928795.1",
"protein_id": "ENSP00000598854.1",
"transcript_support_level": null,
"aa_start": 1221,
"aa_end": null,
"aa_length": 1595,
"cds_start": 3662,
"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": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.3662G>T",
"hgvs_p": "p.Gly1221Val",
"transcript": "ENST00000928796.1",
"protein_id": "ENSP00000598855.1",
"transcript_support_level": null,
"aa_start": 1221,
"aa_end": null,
"aa_length": 1595,
"cds_start": 3662,
"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": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.2189G>T",
"hgvs_p": "p.Gly730Val",
"transcript": "NM_001305792.1",
"protein_id": "NP_001292721.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 1157,
"cds_start": 2189,
"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": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.3662G>T",
"hgvs_p": "p.Gly1221Val",
"transcript": "XM_011510231.3",
"protein_id": "XP_011508533.1",
"transcript_support_level": null,
"aa_start": 1221,
"aa_end": null,
"aa_length": 1648,
"cds_start": 3662,
"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": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.3662G>T",
"hgvs_p": "p.Gly1221Val",
"transcript": "XM_011510232.3",
"protein_id": "XP_011508534.1",
"transcript_support_level": null,
"aa_start": 1221,
"aa_end": null,
"aa_length": 1648,
"cds_start": 3662,
"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": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.3578G>T",
"hgvs_p": "p.Gly1193Val",
"transcript": "XM_011510233.3",
"protein_id": "XP_011508535.1",
"transcript_support_level": null,
"aa_start": 1193,
"aa_end": null,
"aa_length": 1620,
"cds_start": 3578,
"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": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.3578G>T",
"hgvs_p": "p.Gly1193Val",
"transcript": "XM_047436181.1",
"protein_id": "XP_047292137.1",
"transcript_support_level": null,
"aa_start": 1193,
"aa_end": null,
"aa_length": 1620,
"cds_start": 3578,
"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": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.3578G>T",
"hgvs_p": "p.Gly1193Val",
"transcript": "XM_047436184.1",
"protein_id": "XP_047292140.1",
"transcript_support_level": null,
"aa_start": 1193,
"aa_end": null,
"aa_length": 1620,
"cds_start": 3578,
"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": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.3578G>T",
"hgvs_p": "p.Gly1193Val",
"transcript": "XM_047436190.1",
"protein_id": "XP_047292146.1",
"transcript_support_level": null,
"aa_start": 1193,
"aa_end": null,
"aa_length": 1620,
"cds_start": 3578,
"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": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.3533G>T",
"hgvs_p": "p.Gly1178Val",
"transcript": "XM_017003006.2",
"protein_id": "XP_016858495.1",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1605,
"cds_start": 3533,
"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": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.3449G>T",
"hgvs_p": "p.Gly1150Val",
"transcript": "XM_047436195.1",
"protein_id": "XP_047292151.1",
"transcript_support_level": null,
"aa_start": 1150,
"aa_end": null,
"aa_length": 1577,
"cds_start": 3449,
"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": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.3290G>T",
"hgvs_p": "p.Gly1097Val",
"transcript": "XM_011510235.3",
"protein_id": "XP_011508537.1",
"transcript_support_level": null,
"aa_start": 1097,
"aa_end": null,
"aa_length": 1524,
"cds_start": 3290,
"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": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.3290G>T",
"hgvs_p": "p.Gly1097Val",
"transcript": "XM_047436197.1",
"protein_id": "XP_047292153.1",
"transcript_support_level": null,
"aa_start": 1097,
"aa_end": null,
"aa_length": 1524,
"cds_start": 3290,
"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": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.3290G>T",
"hgvs_p": "p.Gly1097Val",
"transcript": "XM_047436198.1",
"protein_id": "XP_047292154.1",
"transcript_support_level": null,
"aa_start": 1097,
"aa_end": null,
"aa_length": 1524,
"cds_start": 3290,
"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": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.3161G>T",
"hgvs_p": "p.Gly1054Val",
"transcript": "XM_047436199.1",
"protein_id": "XP_047292155.1",
"transcript_support_level": null,
"aa_start": 1054,
"aa_end": null,
"aa_length": 1481,
"cds_start": 3161,
"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": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF14",
"gene_hgnc_id": 19181,
"hgvs_c": "c.3095G>T",
"hgvs_p": "p.Gly1032Val",
"transcript": "XM_017003007.2",
"protein_id": "XP_016858496.1",
"transcript_support_level": null,
"aa_start": 1032,
"aa_end": null,
"aa_length": 1459,
"cds_start": 3095,
"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": "rs981349334",
"frequency_reference_population": 7.0888404e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.08884e-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": 0.7841135263442993,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.9800000190734863,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.335,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1168,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.449,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.74,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.999944975169158,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_014875.3",
"gene_symbol": "KIF14",
"hgnc_id": 19181,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3662G>T",
"hgvs_p": "p.Gly1221Val"
}
],
"clinvar_disease": " autosomal recessive, primary,Joubert syndrome and related disorders,Microcephaly 20",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Microcephaly 20, primary, autosomal recessive|Joubert syndrome and related disorders",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}