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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: X-49216438-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=49216438&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 49216438,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000323022.10",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1F",
"gene_hgnc_id": 1393,
"hgvs_c": "c.3180T>G",
"hgvs_p": "p.Asn1060Lys",
"transcript": "NM_001256789.3",
"protein_id": "NP_001243718.1",
"transcript_support_level": null,
"aa_start": 1060,
"aa_end": null,
"aa_length": 1966,
"cds_start": 3180,
"cds_end": null,
"cds_length": 5901,
"cdna_start": 3211,
"cdna_end": null,
"cdna_length": 6006,
"mane_select": "ENST00000323022.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1F",
"gene_hgnc_id": 1393,
"hgvs_c": "c.3180T>G",
"hgvs_p": "p.Asn1060Lys",
"transcript": "ENST00000323022.10",
"protein_id": "ENSP00000321618.6",
"transcript_support_level": 1,
"aa_start": 1060,
"aa_end": null,
"aa_length": 1966,
"cds_start": 3180,
"cds_end": null,
"cds_length": 5901,
"cdna_start": 3211,
"cdna_end": null,
"cdna_length": 6006,
"mane_select": "NM_001256789.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1F",
"gene_hgnc_id": 1393,
"hgvs_c": "c.3213T>G",
"hgvs_p": "p.Asn1071Lys",
"transcript": "ENST00000376265.2",
"protein_id": "ENSP00000365441.2",
"transcript_support_level": 1,
"aa_start": 1071,
"aa_end": null,
"aa_length": 1977,
"cds_start": 3213,
"cds_end": null,
"cds_length": 5934,
"cdna_start": 3275,
"cdna_end": null,
"cdna_length": 6070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1F",
"gene_hgnc_id": 1393,
"hgvs_c": "c.3018T>G",
"hgvs_p": "p.Asn1006Lys",
"transcript": "ENST00000376251.5",
"protein_id": "ENSP00000365427.1",
"transcript_support_level": 1,
"aa_start": 1006,
"aa_end": null,
"aa_length": 1912,
"cds_start": 3018,
"cds_end": null,
"cds_length": 5739,
"cdna_start": 3018,
"cdna_end": null,
"cdna_length": 5813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1F",
"gene_hgnc_id": 1393,
"hgvs_c": "c.3213T>G",
"hgvs_p": "p.Asn1071Lys",
"transcript": "NM_005183.4",
"protein_id": "NP_005174.2",
"transcript_support_level": null,
"aa_start": 1071,
"aa_end": null,
"aa_length": 1977,
"cds_start": 3213,
"cds_end": null,
"cds_length": 5934,
"cdna_start": 3244,
"cdna_end": null,
"cdna_length": 6039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1F",
"gene_hgnc_id": 1393,
"hgvs_c": "c.3018T>G",
"hgvs_p": "p.Asn1006Lys",
"transcript": "NM_001256790.3",
"protein_id": "NP_001243719.1",
"transcript_support_level": null,
"aa_start": 1006,
"aa_end": null,
"aa_length": 1912,
"cds_start": 3018,
"cds_end": null,
"cds_length": 5739,
"cdna_start": 3049,
"cdna_end": null,
"cdna_length": 5844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1F",
"gene_hgnc_id": 1393,
"hgvs_c": "c.3018T>G",
"hgvs_p": "p.Asn1006Lys",
"transcript": "XM_011543983.3",
"protein_id": "XP_011542285.1",
"transcript_support_level": null,
"aa_start": 1006,
"aa_end": null,
"aa_length": 1905,
"cds_start": 3018,
"cds_end": null,
"cds_length": 5718,
"cdna_start": 3049,
"cdna_end": null,
"cdna_length": 5823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1F",
"gene_hgnc_id": 1393,
"hgvs_c": "c.447T>G",
"hgvs_p": "p.Asn149Lys",
"transcript": "XM_017029836.1",
"protein_id": "XP_016885325.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 1027,
"cds_start": 447,
"cds_end": null,
"cds_length": 3084,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 3243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CACNA1F",
"gene_hgnc_id": 1393,
"dbsnp": "rs1557107417",
"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": 0.9539227485656738,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.8999999761581421,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "max_spliceai",
"revel_score": 0.768,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9211,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 0.04,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.9,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000323022.10",
"gene_symbol": "CACNA1F",
"hgnc_id": 1393,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL,AD",
"hgvs_c": "c.3180T>G",
"hgvs_p": "p.Asn1060Lys"
}
],
"clinvar_disease": "Congenital stationary night blindness",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Congenital stationary night blindness",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}