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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: 15-89645930-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=89645930&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 89645930,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000394412.8",
"consequences": [
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"hgvs_c": "c.1885G>A",
"hgvs_p": "p.Glu629Lys",
"transcript": "NM_198525.3",
"protein_id": "NP_940927.2",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 1343,
"cds_start": 1885,
"cds_end": null,
"cds_length": 4032,
"cdna_start": 1978,
"cdna_end": null,
"cdna_length": 4567,
"mane_select": "ENST00000394412.8",
"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": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"hgvs_c": "c.1885G>A",
"hgvs_p": "p.Glu629Lys",
"transcript": "ENST00000394412.8",
"protein_id": "ENSP00000377934.3",
"transcript_support_level": 5,
"aa_start": 629,
"aa_end": null,
"aa_length": 1343,
"cds_start": 1885,
"cds_end": null,
"cds_length": 4032,
"cdna_start": 1978,
"cdna_end": null,
"cdna_length": 4567,
"mane_select": "NM_198525.3",
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"hgvs_c": "c.2008G>A",
"hgvs_p": "p.Glu670Lys",
"transcript": "ENST00000696512.1",
"protein_id": "ENSP00000512678.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 1384,
"cds_start": 2008,
"cds_end": null,
"cds_length": 4155,
"cdna_start": 2072,
"cdna_end": null,
"cdna_length": 4661,
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"hgvs_c": "c.2008G>A",
"hgvs_p": "p.Glu670Lys",
"transcript": "XM_011521531.3",
"protein_id": "XP_011519833.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 1384,
"cds_start": 2008,
"cds_end": null,
"cds_length": 4155,
"cdna_start": 2035,
"cdna_end": null,
"cdna_length": 4624,
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"hgvs_c": "c.2005G>A",
"hgvs_p": "p.Glu669Lys",
"transcript": "XM_047432477.1",
"protein_id": "XP_047288433.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 1382,
"cds_start": 2005,
"cds_end": null,
"cds_length": 4149,
"cdna_start": 2032,
"cdna_end": null,
"cdna_length": 4618,
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"hgvs_c": "c.1885G>A",
"hgvs_p": "p.Glu629Lys",
"transcript": "XM_047432478.1",
"protein_id": "XP_047288434.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 1342,
"cds_start": 1885,
"cds_end": null,
"cds_length": 4029,
"cdna_start": 1978,
"cdna_end": null,
"cdna_length": 4564,
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"hgvs_c": "c.1882G>A",
"hgvs_p": "p.Glu628Lys",
"transcript": "XM_047432479.1",
"protein_id": "XP_047288435.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 1342,
"cds_start": 1882,
"cds_end": null,
"cds_length": 4029,
"cdna_start": 1975,
"cdna_end": null,
"cdna_length": 4564,
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"hgvs_c": "c.1882G>A",
"hgvs_p": "p.Glu628Lys",
"transcript": "XM_047432480.1",
"protein_id": "XP_047288436.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 1341,
"cds_start": 1882,
"cds_end": null,
"cds_length": 4026,
"cdna_start": 1975,
"cdna_end": null,
"cdna_length": 4561,
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"hgvs_c": "c.1882G>A",
"hgvs_p": "p.Glu628Lys",
"transcript": "XM_047432481.1",
"protein_id": "XP_047288437.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 1312,
"cds_start": 1882,
"cds_end": null,
"cds_length": 3939,
"cdna_start": 1975,
"cdna_end": null,
"cdna_length": 4827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"dbsnp": "rs149814240",
"frequency_reference_population": 0.0043438603,
"hom_count_reference_population": 52,
"allele_count_reference_population": 7010,
"gnomad_exomes_af": 0.00427243,
"gnomad_genomes_af": 0.00502928,
"gnomad_exomes_ac": 6244,
"gnomad_genomes_ac": 766,
"gnomad_exomes_homalt": 45,
"gnomad_genomes_homalt": 7,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0034671127796173096,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.121,
"revel_prediction": "Benign",
"alphamissense_score": 0.0725,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.094,
"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,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000394412.8",
"gene_symbol": "KIF7",
"hgnc_id": 30497,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1885G>A",
"hgvs_p": "p.Glu629Lys"
}
],
"clinvar_disease": " Al-Gazali type,Acrocallosal syndrome,Hydrolethalus syndrome 2,Multiple epiphyseal dysplasia,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4 B:4",
"phenotype_combined": "not specified|Acrocallosal syndrome|not provided|Hydrolethalus syndrome 2;Multiple epiphyseal dysplasia, Al-Gazali type;Acrocallosal syndrome",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}