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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: 4-185175815-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=185175815&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 185175815,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_020827.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP97",
"gene_hgnc_id": 29276,
"hgvs_c": "c.1291G>A",
"hgvs_p": "p.Glu431Lys",
"transcript": "NM_020827.3",
"protein_id": "NP_065878.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 532,
"cds_start": 1291,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1410,
"cdna_end": null,
"cdna_length": 4851,
"mane_select": "ENST00000458385.7",
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP97",
"gene_hgnc_id": 29276,
"hgvs_c": "c.1291G>A",
"hgvs_p": "p.Glu431Lys",
"transcript": "ENST00000458385.7",
"protein_id": "ENSP00000409964.2",
"transcript_support_level": 2,
"aa_start": 431,
"aa_end": null,
"aa_length": 532,
"cds_start": 1291,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1410,
"cdna_end": null,
"cdna_length": 4851,
"mane_select": "NM_020827.3",
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP97",
"gene_hgnc_id": 29276,
"hgvs_c": "c.1291G>A",
"hgvs_p": "p.Glu431Lys",
"transcript": "ENST00000514798.1",
"protein_id": "ENSP00000423312.1",
"transcript_support_level": 1,
"aa_start": 431,
"aa_end": null,
"aa_length": 453,
"cds_start": 1291,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1551,
"cdna_end": null,
"cdna_length": 2895,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP97",
"gene_hgnc_id": 29276,
"hgvs_c": "c.1291G>A",
"hgvs_p": "p.Glu431Lys",
"transcript": "NM_001292033.2",
"protein_id": "NP_001278962.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 453,
"cds_start": 1291,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1523,
"cdna_end": null,
"cdna_length": 2862,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP97",
"gene_hgnc_id": 29276,
"hgvs_c": "c.1291G>A",
"hgvs_p": "p.Glu431Lys",
"transcript": "XM_017008483.3",
"protein_id": "XP_016863972.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 532,
"cds_start": 1291,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1523,
"cdna_end": null,
"cdna_length": 4964,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP97",
"gene_hgnc_id": 29276,
"hgvs_c": "c.1291G>A",
"hgvs_p": "p.Glu431Lys",
"transcript": "XM_017008484.3",
"protein_id": "XP_016863973.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 532,
"cds_start": 1291,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1678,
"cdna_end": null,
"cdna_length": 5119,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP97",
"gene_hgnc_id": 29276,
"hgvs_c": "c.1291G>A",
"hgvs_p": "p.Glu431Lys",
"transcript": "XM_017008486.3",
"protein_id": "XP_016863975.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 532,
"cds_start": 1291,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1796,
"cdna_end": null,
"cdna_length": 5237,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP97",
"gene_hgnc_id": 29276,
"hgvs_c": "c.1291G>A",
"hgvs_p": "p.Glu431Lys",
"transcript": "XM_047416015.1",
"protein_id": "XP_047271971.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 532,
"cds_start": 1291,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2957,
"cdna_end": null,
"cdna_length": 6398,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP97",
"gene_hgnc_id": 29276,
"hgvs_c": "c.1291G>A",
"hgvs_p": "p.Glu431Lys",
"transcript": "XM_047416016.1",
"protein_id": "XP_047271972.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 532,
"cds_start": 1291,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1560,
"cdna_end": null,
"cdna_length": 5001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP97",
"gene_hgnc_id": 29276,
"hgvs_c": "n.579G>A",
"hgvs_p": null,
"transcript": "ENST00000502992.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CFAP97",
"gene_hgnc_id": 29276,
"dbsnp": "rs199734613",
"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": 0.5600588917732239,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.226,
"revel_prediction": "Benign",
"alphamissense_score": 0.9547,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.199,
"phylop100way_prediction": "Uncertain_significance",
"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_020827.3",
"gene_symbol": "CFAP97",
"hgnc_id": 29276,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1291G>A",
"hgvs_p": "p.Glu431Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}