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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: 3-57096409-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=57096409&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 57096409,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_017563.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RD",
"gene_hgnc_id": 17616,
"hgvs_c": "c.2204C>T",
"hgvs_p": "p.Ala735Val",
"transcript": "NM_017563.5",
"protein_id": "NP_060033.3",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 739,
"cds_start": 2204,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000296318.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017563.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RD",
"gene_hgnc_id": 17616,
"hgvs_c": "c.2204C>T",
"hgvs_p": "p.Ala735Val",
"transcript": "ENST00000296318.12",
"protein_id": "ENSP00000296318.7",
"transcript_support_level": 1,
"aa_start": 735,
"aa_end": null,
"aa_length": 739,
"cds_start": 2204,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017563.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296318.12"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "IL17RD",
"gene_hgnc_id": 17616,
"hgvs_c": "c.1772C>T",
"hgvs_p": "p.Ala591Val",
"transcript": "ENST00000320057.9",
"protein_id": "ENSP00000322250.5",
"transcript_support_level": 1,
"aa_start": 591,
"aa_end": null,
"aa_length": 595,
"cds_start": 1772,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320057.9"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RD",
"gene_hgnc_id": 17616,
"hgvs_c": "c.1772C>T",
"hgvs_p": "p.Ala591Val",
"transcript": "ENST00000463523.5",
"protein_id": "ENSP00000417516.1",
"transcript_support_level": 1,
"aa_start": 591,
"aa_end": null,
"aa_length": 595,
"cds_start": 1772,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000463523.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RD",
"gene_hgnc_id": 17616,
"hgvs_c": "c.2183C>T",
"hgvs_p": "p.Ala728Val",
"transcript": "ENST00000914043.1",
"protein_id": "ENSP00000584102.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 732,
"cds_start": 2183,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914043.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RD",
"gene_hgnc_id": 17616,
"hgvs_c": "c.2093C>T",
"hgvs_p": "p.Ala698Val",
"transcript": "ENST00000914044.1",
"protein_id": "ENSP00000584103.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 702,
"cds_start": 2093,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914044.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RD",
"gene_hgnc_id": 17616,
"hgvs_c": "c.1946C>T",
"hgvs_p": "p.Ala649Val",
"transcript": "ENST00000914045.1",
"protein_id": "ENSP00000584104.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 653,
"cds_start": 1946,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914045.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "IL17RD",
"gene_hgnc_id": 17616,
"hgvs_c": "c.1772C>T",
"hgvs_p": "p.Ala591Val",
"transcript": "NM_001318864.2",
"protein_id": "NP_001305793.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 595,
"cds_start": 1772,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318864.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RD",
"gene_hgnc_id": 17616,
"hgvs_c": "c.2120C>T",
"hgvs_p": "p.Ala707Val",
"transcript": "XM_005265238.5",
"protein_id": "XP_005265295.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 711,
"cds_start": 2120,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005265238.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RD",
"gene_hgnc_id": 17616,
"hgvs_c": "c.1772C>T",
"hgvs_p": "p.Ala591Val",
"transcript": "XM_011533849.2",
"protein_id": "XP_011532151.2",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 595,
"cds_start": 1772,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533849.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "IL17RD",
"gene_hgnc_id": 17616,
"hgvs_c": "c.1772C>T",
"hgvs_p": "p.Ala591Val",
"transcript": "XM_047448369.1",
"protein_id": "XP_047304325.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 595,
"cds_start": 1772,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448369.1"
}
],
"gene_symbol": "IL17RD",
"gene_hgnc_id": 17616,
"dbsnp": "rs587776979",
"frequency_reference_population": 0.00004340461,
"hom_count_reference_population": 0,
"allele_count_reference_population": 70,
"gnomad_exomes_af": 0.0000451894,
"gnomad_genomes_af": 0.0000262791,
"gnomad_exomes_ac": 66,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07303431630134583,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.168,
"revel_prediction": "Benign",
"alphamissense_score": 0.0761,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.332,
"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": -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_017563.5",
"gene_symbol": "IL17RD",
"hgnc_id": 17616,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2204C>T",
"hgvs_p": "p.Ala735Val"
}
],
"clinvar_disease": " SUSCEPTIBILITY TO,HYPOGONADOTROPIC HYPOGONADISM 18 WITH ANOSMIA,IL17RD-related disorder",
"clinvar_classification": " risk factor,Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "HYPOGONADOTROPIC HYPOGONADISM 18 WITH ANOSMIA, SUSCEPTIBILITY TO|IL17RD-related disorder",
"pathogenicity_classification_combined": "Uncertain significance; risk factor",
"custom_annotations": null
}
],
"message": null
}