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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: 20-17494075-TAA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=17494075&ref=TAA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 17494075,
"ref": "TAA",
"alt": "T",
"effect": "frameshift_variant,stop_lost",
"transcript": "NM_001195.5",
"consequences": [
{
"aa_ref": "S*",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_lost"
],
"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.1995_1996delTT",
"hgvs_p": "p.Ter666fs",
"transcript": "NM_001195.5",
"protein_id": "NP_001186.1",
"transcript_support_level": null,
"aa_start": 665,
"aa_end": null,
"aa_length": 665,
"cds_start": 1995,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 2046,
"cdna_end": null,
"cdna_length": 2217,
"mane_select": "ENST00000377873.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S*",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_lost"
],
"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.1995_1996delTT",
"hgvs_p": "p.Ter666fs",
"transcript": "ENST00000377873.8",
"protein_id": "ENSP00000367104.3",
"transcript_support_level": 1,
"aa_start": 665,
"aa_end": null,
"aa_length": 665,
"cds_start": 1995,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 2046,
"cdna_end": null,
"cdna_length": 2217,
"mane_select": "NM_001195.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S*",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_lost"
],
"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.1620_1621delTT",
"hgvs_p": "p.Ter541fs",
"transcript": "ENST00000377868.6",
"protein_id": "ENSP00000367099.2",
"transcript_support_level": 1,
"aa_start": 540,
"aa_end": null,
"aa_length": 540,
"cds_start": 1620,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1892,
"cdna_end": null,
"cdna_length": 2063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S*",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_lost"
],
"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.1887_1888delTT",
"hgvs_p": "p.Ter630fs",
"transcript": "NM_001424338.1",
"protein_id": "NP_001411267.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 629,
"cds_start": 1887,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 1938,
"cdna_end": null,
"cdna_length": 2109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S*",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_lost"
],
"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.1662_1663delTT",
"hgvs_p": "p.Ter555fs",
"transcript": "NM_001278607.2",
"protein_id": "NP_001265536.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 554,
"cds_start": 1662,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 1761,
"cdna_end": null,
"cdna_length": 1932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S*",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_lost"
],
"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.1620_1621delTT",
"hgvs_p": "p.Ter541fs",
"transcript": "NM_001161705.2",
"protein_id": "NP_001155177.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 540,
"cds_start": 1620,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1765,
"cdna_end": null,
"cdna_length": 1936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S*",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_lost"
],
"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.1578_1579delTT",
"hgvs_p": "p.Ter527fs",
"transcript": "NM_001278606.2",
"protein_id": "NP_001265535.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 526,
"cds_start": 1578,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1900,
"cdna_end": null,
"cdna_length": 2071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S*",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_lost"
],
"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.1578_1579delTT",
"hgvs_p": "p.Ter527fs",
"transcript": "NM_001278608.2",
"protein_id": "NP_001265537.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 526,
"cds_start": 1578,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 2013,
"cdna_end": null,
"cdna_length": 2184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S*",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_lost"
],
"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.1578_1579delTT",
"hgvs_p": "p.Ter527fs",
"transcript": "ENST00000536626.7",
"protein_id": "ENSP00000442522.1",
"transcript_support_level": 2,
"aa_start": 526,
"aa_end": null,
"aa_length": 526,
"cds_start": 1578,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1905,
"cdna_end": null,
"cdna_length": 2075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BFSP1",
"gene_hgnc_id": 1040,
"dbsnp": "rs548358901",
"frequency_reference_population": 0.0023602024,
"hom_count_reference_population": 13,
"allele_count_reference_population": 3798,
"gnomad_exomes_af": 0.00234619,
"gnomad_genomes_af": 0.00249419,
"gnomad_exomes_ac": 3418,
"gnomad_genomes_ac": 380,
"gnomad_exomes_homalt": 13,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"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": 1.465,
"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": "PVS1,BP6_Moderate,BS1,BS2",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 10,
"pathogenic_score": 8,
"criteria": [
"PVS1",
"BP6_Moderate",
"BS1",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001195.5",
"gene_symbol": "BFSP1",
"hgnc_id": 1040,
"effects": [
"frameshift_variant",
"stop_lost"
],
"inheritance_mode": "AR,AD,SD",
"hgvs_c": "c.1995_1996delTT",
"hgvs_p": "p.Ter666fs"
}
],
"clinvar_disease": "Cataract 33,Congenital ocular coloboma",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "Congenital ocular coloboma|Cataract 33",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}