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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: 15-82271670-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=82271670&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 82271670,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001348699.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAXO2",
"gene_hgnc_id": 33727,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "NM_001348699.2",
"protein_id": "NP_001335628.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 458,
"cds_start": 301,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000682753.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348699.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAXO2",
"gene_hgnc_id": 33727,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "ENST00000682753.1",
"protein_id": "ENSP00000508095.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 458,
"cds_start": 301,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001348699.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682753.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAXO2",
"gene_hgnc_id": 33727,
"hgvs_c": "c.121C>G",
"hgvs_p": "p.Gln41Glu",
"transcript": "ENST00000339465.5",
"protein_id": "ENSP00000340445.5",
"transcript_support_level": 1,
"aa_start": 41,
"aa_end": null,
"aa_length": 398,
"cds_start": 121,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339465.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAXO2",
"gene_hgnc_id": 33727,
"hgvs_c": "n.412C>G",
"hgvs_p": null,
"transcript": "ENST00000565501.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000565501.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAXO2",
"gene_hgnc_id": 33727,
"hgvs_c": "c.160C>G",
"hgvs_p": "p.Gln54Glu",
"transcript": "NM_001348700.2",
"protein_id": "NP_001335629.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 411,
"cds_start": 160,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348700.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAXO2",
"gene_hgnc_id": 33727,
"hgvs_c": "c.160C>G",
"hgvs_p": "p.Gln54Glu",
"transcript": "NM_001348701.2",
"protein_id": "NP_001335630.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 411,
"cds_start": 160,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348701.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAXO2",
"gene_hgnc_id": 33727,
"hgvs_c": "c.121C>G",
"hgvs_p": "p.Gln41Glu",
"transcript": "NM_001008226.2",
"protein_id": "NP_001008227.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 398,
"cds_start": 121,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001008226.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAXO2",
"gene_hgnc_id": 33727,
"hgvs_c": "c.76C>G",
"hgvs_p": "p.Gln26Glu",
"transcript": "NM_001348702.2",
"protein_id": "NP_001335631.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 383,
"cds_start": 76,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348702.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAXO2",
"gene_hgnc_id": 33727,
"hgvs_c": "c.76C>G",
"hgvs_p": "p.Gln26Glu",
"transcript": "NM_001348703.2",
"protein_id": "NP_001335632.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 383,
"cds_start": 76,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348703.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAXO2",
"gene_hgnc_id": 33727,
"hgvs_c": "c.160C>G",
"hgvs_p": "p.Gln54Glu",
"transcript": "ENST00000565432.1",
"protein_id": "ENSP00000458067.1",
"transcript_support_level": 4,
"aa_start": 54,
"aa_end": null,
"aa_length": 104,
"cds_start": 160,
"cds_end": null,
"cds_length": 315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565432.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAXO2",
"gene_hgnc_id": 33727,
"hgvs_c": "c.286C>G",
"hgvs_p": "p.Gln96Glu",
"transcript": "XM_024449902.2",
"protein_id": "XP_024305670.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 453,
"cds_start": 286,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449902.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAXO2",
"gene_hgnc_id": 33727,
"hgvs_c": "c.286C>G",
"hgvs_p": "p.Gln96Glu",
"transcript": "XM_047432398.1",
"protein_id": "XP_047288354.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 453,
"cds_start": 286,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432398.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SAXO2",
"gene_hgnc_id": 33727,
"hgvs_c": "c.28+8482C>G",
"hgvs_p": null,
"transcript": "NM_001348704.2",
"protein_id": "NP_001335633.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 323,
"cds_start": null,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348704.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SAXO2",
"gene_hgnc_id": 33727,
"hgvs_c": "c.233+5922C>G",
"hgvs_p": null,
"transcript": "NM_001348706.2",
"protein_id": "NP_001335635.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 80,
"cds_start": null,
"cds_end": null,
"cds_length": 243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348706.2"
}
],
"gene_symbol": "SAXO2",
"gene_hgnc_id": 33727,
"dbsnp": "rs756838105",
"frequency_reference_population": 0.00000619667,
"hom_count_reference_population": 1,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000615746,
"gnomad_genomes_af": 0.00000657341,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03281557559967041,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.072,
"revel_prediction": "Benign",
"alphamissense_score": 0.0528,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.097,
"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_001348699.2",
"gene_symbol": "SAXO2",
"hgnc_id": 33727,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}