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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: 20-17494297-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=17494297&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 17494297,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001195.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"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>T",
"hgvs_p": "p.Ala592Val",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000377873.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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>T",
"hgvs_p": "p.Ala592Val",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001195.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377873.8"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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>T",
"hgvs_p": "p.Ala467Val",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377868.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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>T",
"hgvs_p": "p.Ala556Val",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424338.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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>T",
"hgvs_p": "p.Ala556Val",
"transcript": "ENST00000929672.1",
"protein_id": "ENSP00000599731.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 629,
"cds_start": 1667,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929672.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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>T",
"hgvs_p": "p.Ala481Val",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278607.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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>T",
"hgvs_p": "p.Ala467Val",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161705.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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>T",
"hgvs_p": "p.Ala453Val",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278606.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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>T",
"hgvs_p": "p.Ala453Val",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278608.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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>T",
"hgvs_p": "p.Ala453Val",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536626.7"
}
],
"gene_symbol": "BFSP1",
"gene_hgnc_id": 1040,
"dbsnp": "rs145703098",
"frequency_reference_population": 0.00068147405,
"hom_count_reference_population": 3,
"allele_count_reference_population": 1100,
"gnomad_exomes_af": 0.000678587,
"gnomad_genomes_af": 0.000709192,
"gnomad_exomes_ac": 992,
"gnomad_genomes_ac": 108,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004317879676818848,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.026,
"revel_prediction": "Benign",
"alphamissense_score": 0.0782,
"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": -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": "NM_001195.5",
"gene_symbol": "BFSP1",
"hgnc_id": 1040,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD,SD",
"hgvs_c": "c.1775C>T",
"hgvs_p": "p.Ala592Val"
}
],
"clinvar_disease": "BFSP1-related disorder,Cataract 33,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"phenotype_combined": "Cataract 33|not provided|BFSP1-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}