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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: 15-78962181-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=78962181&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 78962181,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002891.6",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRF1",
"gene_hgnc_id": 9875,
"hgvs_c": "c.3737A>G",
"hgvs_p": "p.Glu1246Gly",
"transcript": "NM_001145648.3",
"protein_id": "NP_001139120.1",
"transcript_support_level": null,
"aa_start": 1246,
"aa_end": null,
"aa_length": 1257,
"cds_start": 3737,
"cds_end": null,
"cds_length": 3774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000558480.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145648.3"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRF1",
"gene_hgnc_id": 9875,
"hgvs_c": "c.3737A>G",
"hgvs_p": "p.Glu1246Gly",
"transcript": "ENST00000558480.7",
"protein_id": "ENSP00000452781.2",
"transcript_support_level": 2,
"aa_start": 1246,
"aa_end": null,
"aa_length": 1257,
"cds_start": 3737,
"cds_end": null,
"cds_length": 3774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001145648.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558480.7"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRF1",
"gene_hgnc_id": 9875,
"hgvs_c": "c.1433A>G",
"hgvs_p": "p.Glu478Gly",
"transcript": "ENST00000394745.3",
"protein_id": "ENSP00000378228.3",
"transcript_support_level": 1,
"aa_start": 478,
"aa_end": null,
"aa_length": 489,
"cds_start": 1433,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394745.3"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRF1",
"gene_hgnc_id": 9875,
"hgvs_c": "c.3785A>G",
"hgvs_p": "p.Glu1262Gly",
"transcript": "NM_002891.6",
"protein_id": "NP_002882.3",
"transcript_support_level": null,
"aa_start": 1262,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3785,
"cds_end": null,
"cds_length": 3822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002891.6"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRF1",
"gene_hgnc_id": 9875,
"hgvs_c": "c.3785A>G",
"hgvs_p": "p.Glu1262Gly",
"transcript": "ENST00000419573.7",
"protein_id": "ENSP00000405963.3",
"transcript_support_level": 2,
"aa_start": 1262,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3785,
"cds_end": null,
"cds_length": 3822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419573.7"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRF1",
"gene_hgnc_id": 9875,
"hgvs_c": "c.1433A>G",
"hgvs_p": "p.Glu478Gly",
"transcript": "NM_153815.3",
"protein_id": "NP_722522.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 489,
"cds_start": 1433,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153815.3"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRF1",
"gene_hgnc_id": 9875,
"hgvs_c": "c.3776A>G",
"hgvs_p": "p.Glu1259Gly",
"transcript": "XM_017022455.3",
"protein_id": "XP_016877944.1",
"transcript_support_level": null,
"aa_start": 1259,
"aa_end": null,
"aa_length": 1270,
"cds_start": 3776,
"cds_end": null,
"cds_length": 3813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022455.3"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRF1",
"gene_hgnc_id": 9875,
"hgvs_c": "c.3746A>G",
"hgvs_p": "p.Glu1249Gly",
"transcript": "XM_017022456.3",
"protein_id": "XP_016877945.1",
"transcript_support_level": null,
"aa_start": 1249,
"aa_end": null,
"aa_length": 1260,
"cds_start": 3746,
"cds_end": null,
"cds_length": 3783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022456.3"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRF1",
"gene_hgnc_id": 9875,
"hgvs_c": "c.1433A>G",
"hgvs_p": "p.Glu478Gly",
"transcript": "XM_047432926.1",
"protein_id": "XP_047288882.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 489,
"cds_start": 1433,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432926.1"
}
],
"gene_symbol": "RASGRF1",
"gene_hgnc_id": 9875,
"dbsnp": "rs551490924",
"frequency_reference_population": 0.000015728216,
"hom_count_reference_population": 0,
"allele_count_reference_population": 25,
"gnomad_exomes_af": 0.0000160019,
"gnomad_genomes_af": 0.0000131428,
"gnomad_exomes_ac": 23,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14631754159927368,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.08,
"revel_prediction": "Benign",
"alphamissense_score": 0.3105,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.121,
"phylop100way_prediction": "Uncertain_significance",
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_002891.6",
"gene_symbol": "RASGRF1",
"hgnc_id": 9875,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3785A>G",
"hgvs_p": "p.Glu1262Gly"
}
],
"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
}