← 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: 20-17494297-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=17494297&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 17494297,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001195.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BFSP1",
"gene_hgnc_id": 1040,
"hgvs_c": "c.1775C>G",
"hgvs_p": "p.Ala592Gly",
"transcript": "NM_001195.5",
"protein_id": "NP_001186.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 665,
"cds_start": 1775,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 1825,
"cdna_end": null,
"cdna_length": 2217,
"mane_select": "ENST00000377873.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BFSP1",
"gene_hgnc_id": 1040,
"hgvs_c": "c.1775C>G",
"hgvs_p": "p.Ala592Gly",
"transcript": "ENST00000377873.8",
"protein_id": "ENSP00000367104.3",
"transcript_support_level": 1,
"aa_start": 592,
"aa_end": null,
"aa_length": 665,
"cds_start": 1775,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 1825,
"cdna_end": null,
"cdna_length": 2217,
"mane_select": "NM_001195.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BFSP1",
"gene_hgnc_id": 1040,
"hgvs_c": "c.1400C>G",
"hgvs_p": "p.Ala467Gly",
"transcript": "ENST00000377868.6",
"protein_id": "ENSP00000367099.2",
"transcript_support_level": 1,
"aa_start": 467,
"aa_end": null,
"aa_length": 540,
"cds_start": 1400,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1671,
"cdna_end": null,
"cdna_length": 2063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BFSP1",
"gene_hgnc_id": 1040,
"hgvs_c": "c.1667C>G",
"hgvs_p": "p.Ala556Gly",
"transcript": "NM_001424338.1",
"protein_id": "NP_001411267.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 629,
"cds_start": 1667,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 1717,
"cdna_end": null,
"cdna_length": 2109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BFSP1",
"gene_hgnc_id": 1040,
"hgvs_c": "c.1442C>G",
"hgvs_p": "p.Ala481Gly",
"transcript": "NM_001278607.2",
"protein_id": "NP_001265536.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 554,
"cds_start": 1442,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 1540,
"cdna_end": null,
"cdna_length": 1932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BFSP1",
"gene_hgnc_id": 1040,
"hgvs_c": "c.1400C>G",
"hgvs_p": "p.Ala467Gly",
"transcript": "NM_001161705.2",
"protein_id": "NP_001155177.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 540,
"cds_start": 1400,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1544,
"cdna_end": null,
"cdna_length": 1936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BFSP1",
"gene_hgnc_id": 1040,
"hgvs_c": "c.1358C>G",
"hgvs_p": "p.Ala453Gly",
"transcript": "NM_001278606.2",
"protein_id": "NP_001265535.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 526,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1679,
"cdna_end": null,
"cdna_length": 2071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BFSP1",
"gene_hgnc_id": 1040,
"hgvs_c": "c.1358C>G",
"hgvs_p": "p.Ala453Gly",
"transcript": "NM_001278608.2",
"protein_id": "NP_001265537.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 526,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1792,
"cdna_end": null,
"cdna_length": 2184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BFSP1",
"gene_hgnc_id": 1040,
"hgvs_c": "c.1358C>G",
"hgvs_p": "p.Ala453Gly",
"transcript": "ENST00000536626.7",
"protein_id": "ENSP00000442522.1",
"transcript_support_level": 2,
"aa_start": 453,
"aa_end": null,
"aa_length": 526,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1684,
"cdna_end": null,
"cdna_length": 2075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BFSP1",
"gene_hgnc_id": 1040,
"dbsnp": "rs145703098",
"frequency_reference_population": 0.000003420286,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000342029,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04145723581314087,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.006,
"revel_prediction": "Benign",
"alphamissense_score": 0.0797,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.934,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001195.5",
"gene_symbol": "BFSP1",
"hgnc_id": 1040,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD,SD",
"hgvs_c": "c.1775C>G",
"hgvs_p": "p.Ala592Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}