← Back to variant description
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: 3-57096633-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=57096633&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 57096633,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_017563.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "IL17RD",
"gene_hgnc_id": 17616,
"hgvs_c": "c.2108-128G>A",
"hgvs_p": null,
"transcript": "NM_017563.5",
"protein_id": "NP_060033.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 739,
"cds_start": null,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8698,
"mane_select": "ENST00000296318.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017563.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "IL17RD",
"gene_hgnc_id": 17616,
"hgvs_c": "c.2108-128G>A",
"hgvs_p": null,
"transcript": "ENST00000296318.12",
"protein_id": "ENSP00000296318.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 739,
"cds_start": null,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8698,
"mane_select": "NM_017563.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296318.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "IL17RD",
"gene_hgnc_id": 17616,
"hgvs_c": "c.1676-128G>A",
"hgvs_p": null,
"transcript": "ENST00000320057.9",
"protein_id": "ENSP00000322250.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 595,
"cds_start": null,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4474,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320057.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "IL17RD",
"gene_hgnc_id": 17616,
"hgvs_c": "c.1676-128G>A",
"hgvs_p": null,
"transcript": "ENST00000463523.5",
"protein_id": "ENSP00000417516.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 595,
"cds_start": null,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2348,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000463523.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "IL17RD",
"gene_hgnc_id": 17616,
"hgvs_c": "c.2087-128G>A",
"hgvs_p": null,
"transcript": "ENST00000914043.1",
"protein_id": "ENSP00000584102.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 732,
"cds_start": null,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8673,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914043.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "IL17RD",
"gene_hgnc_id": 17616,
"hgvs_c": "c.1997-128G>A",
"hgvs_p": null,
"transcript": "ENST00000914044.1",
"protein_id": "ENSP00000584103.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 702,
"cds_start": null,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8580,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914044.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "IL17RD",
"gene_hgnc_id": 17616,
"hgvs_c": "c.1850-128G>A",
"hgvs_p": null,
"transcript": "ENST00000914045.1",
"protein_id": "ENSP00000584104.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 653,
"cds_start": null,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4135,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914045.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "IL17RD",
"gene_hgnc_id": 17616,
"hgvs_c": "c.1676-128G>A",
"hgvs_p": null,
"transcript": "NM_001318864.2",
"protein_id": "NP_001305793.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 595,
"cds_start": null,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8753,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318864.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "IL17RD",
"gene_hgnc_id": 17616,
"hgvs_c": "c.2024-128G>A",
"hgvs_p": null,
"transcript": "XM_005265238.5",
"protein_id": "XP_005265295.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 711,
"cds_start": null,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8933,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005265238.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "IL17RD",
"gene_hgnc_id": 17616,
"hgvs_c": "c.1676-128G>A",
"hgvs_p": null,
"transcript": "XM_011533849.2",
"protein_id": "XP_011532151.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 595,
"cds_start": null,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8539,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533849.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "IL17RD",
"gene_hgnc_id": 17616,
"hgvs_c": "c.1676-128G>A",
"hgvs_p": null,
"transcript": "XM_047448369.1",
"protein_id": "XP_047304325.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 595,
"cds_start": null,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8835,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448369.1"
}
],
"gene_symbol": "IL17RD",
"gene_hgnc_id": 17616,
"dbsnp": "rs115706543",
"frequency_reference_population": 0.0030504633,
"hom_count_reference_population": 36,
"allele_count_reference_population": 2100,
"gnomad_exomes_af": 0.0013074,
"gnomad_genomes_af": 0.00918944,
"gnomad_exomes_ac": 701,
"gnomad_genomes_ac": 1399,
"gnomad_exomes_homalt": 9,
"gnomad_genomes_homalt": 27,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7900000214576721,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.118,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS1,BS2",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_017563.5",
"gene_symbol": "IL17RD",
"hgnc_id": 17616,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2108-128G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}