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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: 17-59270985-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=59270985&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 59270985,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000284116.9",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDPD1",
"gene_hgnc_id": 20883,
"hgvs_c": "c.760C>A",
"hgvs_p": "p.Leu254Ile",
"transcript": "NM_182569.4",
"protein_id": "NP_872375.2",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 314,
"cds_start": 760,
"cds_end": null,
"cds_length": 945,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 3241,
"mane_select": "ENST00000284116.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDPD1",
"gene_hgnc_id": 20883,
"hgvs_c": "c.760C>A",
"hgvs_p": "p.Leu254Ile",
"transcript": "ENST00000284116.9",
"protein_id": "ENSP00000284116.4",
"transcript_support_level": 1,
"aa_start": 254,
"aa_end": null,
"aa_length": 314,
"cds_start": 760,
"cds_end": null,
"cds_length": 945,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 3241,
"mane_select": "NM_182569.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDPD1",
"gene_hgnc_id": 20883,
"hgvs_c": "c.760C>A",
"hgvs_p": "p.Leu254Ile",
"transcript": "ENST00000581276.5",
"protein_id": "ENSP00000464690.1",
"transcript_support_level": 1,
"aa_start": 254,
"aa_end": null,
"aa_length": 290,
"cds_start": 760,
"cds_end": null,
"cds_length": 873,
"cdna_start": 808,
"cdna_end": null,
"cdna_length": 1055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDPD1",
"gene_hgnc_id": 20883,
"hgvs_c": "c.760C>A",
"hgvs_p": "p.Leu254Ile",
"transcript": "ENST00000581140.5",
"protein_id": "ENSP00000463273.1",
"transcript_support_level": 1,
"aa_start": 254,
"aa_end": null,
"aa_length": 289,
"cds_start": 760,
"cds_end": null,
"cds_length": 870,
"cdna_start": 848,
"cdna_end": null,
"cdna_length": 1265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDPD1",
"gene_hgnc_id": 20883,
"hgvs_c": "c.760C>A",
"hgvs_p": "p.Leu254Ile",
"transcript": "NM_001165994.2",
"protein_id": "NP_001159466.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 290,
"cds_start": 760,
"cds_end": null,
"cds_length": 873,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 1106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDPD1",
"gene_hgnc_id": 20883,
"hgvs_c": "c.760C>A",
"hgvs_p": "p.Leu254Ile",
"transcript": "NM_001165993.2",
"protein_id": "NP_001159465.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 289,
"cds_start": 760,
"cds_end": null,
"cds_length": 870,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 1741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDPD1",
"gene_hgnc_id": 20883,
"hgvs_c": "c.481C>A",
"hgvs_p": "p.Leu161Ile",
"transcript": "XM_017024521.2",
"protein_id": "XP_016880010.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 221,
"cds_start": 481,
"cds_end": null,
"cds_length": 666,
"cdna_start": 710,
"cdna_end": null,
"cdna_length": 3092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDPD1",
"gene_hgnc_id": 20883,
"hgvs_c": "n.*248C>A",
"hgvs_p": null,
"transcript": "ENST00000578026.5",
"protein_id": "ENSP00000462895.1",
"transcript_support_level": 3,
"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": 934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDPD1",
"gene_hgnc_id": 20883,
"hgvs_c": "n.626C>A",
"hgvs_p": null,
"transcript": "ENST00000579020.5",
"protein_id": "ENSP00000463818.1",
"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": 834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDPD1",
"gene_hgnc_id": 20883,
"hgvs_c": "n.181C>A",
"hgvs_p": null,
"transcript": "ENST00000579076.1",
"protein_id": "ENSP00000464351.1",
"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": 585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDPD1",
"gene_hgnc_id": 20883,
"hgvs_c": "n.*248C>A",
"hgvs_p": null,
"transcript": "ENST00000578026.5",
"protein_id": "ENSP00000462895.1",
"transcript_support_level": 3,
"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": 934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GDPD1",
"gene_hgnc_id": 20883,
"dbsnp": "rs377470665",
"frequency_reference_population": 6.961597e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.9616e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3699391782283783,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.098,
"revel_prediction": "Benign",
"alphamissense_score": 0.095,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.133,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000284116.9",
"gene_symbol": "GDPD1",
"hgnc_id": 20883,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.760C>A",
"hgvs_p": "p.Leu254Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}