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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: 17-50114001-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=50114001&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 50114001,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001257359.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD14",
"gene_hgnc_id": 27312,
"hgvs_c": "c.1021G>A",
"hgvs_p": "p.Glu341Lys",
"transcript": "NM_001257359.2",
"protein_id": "NP_001244288.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 417,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 1677,
"cdna_end": null,
"cdna_length": 4763,
"mane_select": "ENST00000330175.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD14",
"gene_hgnc_id": 27312,
"hgvs_c": "c.1021G>A",
"hgvs_p": "p.Glu341Lys",
"transcript": "ENST00000330175.9",
"protein_id": "ENSP00000329144.4",
"transcript_support_level": 1,
"aa_start": 341,
"aa_end": null,
"aa_length": 417,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 1677,
"cdna_end": null,
"cdna_length": 4763,
"mane_select": "NM_001257359.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD14",
"gene_hgnc_id": 27312,
"hgvs_c": "c.1105G>A",
"hgvs_p": "p.Glu369Lys",
"transcript": "ENST00000503131.1",
"protein_id": "ENSP00000424474.1",
"transcript_support_level": 1,
"aa_start": 369,
"aa_end": null,
"aa_length": 445,
"cds_start": 1105,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1483,
"cdna_end": null,
"cdna_length": 1938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD14",
"gene_hgnc_id": 27312,
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Glu353Lys",
"transcript": "ENST00000285206.12",
"protein_id": "ENSP00000285206.8",
"transcript_support_level": 1,
"aa_start": 353,
"aa_end": null,
"aa_length": 429,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 1057,
"cdna_end": null,
"cdna_length": 2874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD14",
"gene_hgnc_id": 27312,
"hgvs_c": "c.1105G>A",
"hgvs_p": "p.Glu369Lys",
"transcript": "NM_174920.4",
"protein_id": "NP_777580.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 445,
"cds_start": 1105,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1761,
"cdna_end": null,
"cdna_length": 4847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD14",
"gene_hgnc_id": 27312,
"hgvs_c": "c.1270G>A",
"hgvs_p": "p.Glu424Lys",
"transcript": "XM_017024322.3",
"protein_id": "XP_016879811.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 500,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1285,
"cdna_end": null,
"cdna_length": 4371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD14",
"gene_hgnc_id": 27312,
"hgvs_c": "n.915G>A",
"hgvs_p": null,
"transcript": "ENST00000508892.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD14",
"gene_hgnc_id": 27312,
"hgvs_c": "n.1024G>A",
"hgvs_p": null,
"transcript": "ENST00000573376.1",
"protein_id": null,
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD14",
"gene_hgnc_id": 27312,
"hgvs_c": "n.*227G>A",
"hgvs_p": null,
"transcript": "ENST00000515816.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SAMD14",
"gene_hgnc_id": 27312,
"dbsnp": "rs115926127",
"frequency_reference_population": 0.00009543416,
"hom_count_reference_population": 2,
"allele_count_reference_population": 154,
"gnomad_exomes_af": 0.0000848513,
"gnomad_genomes_af": 0.000196982,
"gnomad_exomes_ac": 124,
"gnomad_genomes_ac": 30,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.014955639839172363,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.251,
"revel_prediction": "Benign",
"alphamissense_score": 0.3487,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.619,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001257359.2",
"gene_symbol": "SAMD14",
"hgnc_id": 27312,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1021G>A",
"hgvs_p": "p.Glu341Lys"
}
],
"clinvar_disease": "SAMD14-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "SAMD14-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}