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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: 13-20721916-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=20721916&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 20721916,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001385221.1",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17D",
"gene_hgnc_id": 5984,
"hgvs_c": "c.571C>T",
"hgvs_p": "p.Leu191Phe",
"transcript": "NM_001385224.1",
"protein_id": "NP_001372153.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 202,
"cds_start": 571,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000682841.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385224.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17D",
"gene_hgnc_id": 5984,
"hgvs_c": "c.571C>T",
"hgvs_p": "p.Leu191Phe",
"transcript": "ENST00000682841.1",
"protein_id": "ENSP00000508385.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 202,
"cds_start": 571,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001385224.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682841.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17D",
"gene_hgnc_id": 5984,
"hgvs_c": "c.571C>T",
"hgvs_p": "p.Leu191Phe",
"transcript": "ENST00000304920.3",
"protein_id": "ENSP00000302924.3",
"transcript_support_level": 1,
"aa_start": 191,
"aa_end": null,
"aa_length": 202,
"cds_start": 571,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304920.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17D",
"gene_hgnc_id": 5984,
"hgvs_c": "c.592C>T",
"hgvs_p": "p.Leu198Phe",
"transcript": "NM_001385221.1",
"protein_id": "NP_001372150.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 209,
"cds_start": 592,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385221.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17D",
"gene_hgnc_id": 5984,
"hgvs_c": "c.592C>T",
"hgvs_p": "p.Leu198Phe",
"transcript": "NM_001385222.1",
"protein_id": "NP_001372151.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 209,
"cds_start": 592,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385222.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17D",
"gene_hgnc_id": 5984,
"hgvs_c": "c.571C>T",
"hgvs_p": "p.Leu191Phe",
"transcript": "NM_001385223.1",
"protein_id": "NP_001372152.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 202,
"cds_start": 571,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385223.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17D",
"gene_hgnc_id": 5984,
"hgvs_c": "c.571C>T",
"hgvs_p": "p.Leu191Phe",
"transcript": "NM_138284.2",
"protein_id": "NP_612141.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 202,
"cds_start": 571,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138284.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17D",
"gene_hgnc_id": 5984,
"hgvs_c": "c.571C>T",
"hgvs_p": "p.Leu191Phe",
"transcript": "ENST00000962835.1",
"protein_id": "ENSP00000632894.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 202,
"cds_start": 571,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962835.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17D",
"gene_hgnc_id": 5984,
"hgvs_c": "c.571C>T",
"hgvs_p": "p.Leu191Phe",
"transcript": "ENST00000962836.1",
"protein_id": "ENSP00000632895.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 202,
"cds_start": 571,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962836.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17D",
"gene_hgnc_id": 5984,
"hgvs_c": "c.319C>T",
"hgvs_p": "p.Leu107Phe",
"transcript": "NM_001385225.1",
"protein_id": "NP_001372154.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 118,
"cds_start": 319,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385225.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17D",
"gene_hgnc_id": 5984,
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Leu103Phe",
"transcript": "NM_001386973.1",
"protein_id": "NP_001373902.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 114,
"cds_start": 307,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386973.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17D",
"gene_hgnc_id": 5984,
"hgvs_c": "n.510C>T",
"hgvs_p": null,
"transcript": "NR_169590.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_169590.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17D",
"gene_hgnc_id": 5984,
"hgvs_c": "n.1134C>T",
"hgvs_p": null,
"transcript": "NR_169591.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_169591.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17D",
"gene_hgnc_id": 5984,
"hgvs_c": "n.*495C>T",
"hgvs_p": null,
"transcript": "ENST00000468605.1",
"protein_id": "ENSP00000480610.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000468605.1"
}
],
"gene_symbol": "IL17D",
"gene_hgnc_id": 5984,
"dbsnp": "rs772734326",
"frequency_reference_population": 6.8840654e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.88407e-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": 0.11495760083198547,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.1,
"revel_prediction": "Benign",
"alphamissense_score": 0.1042,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.702,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001385221.1",
"gene_symbol": "IL17D",
"hgnc_id": 5984,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.592C>T",
"hgvs_p": "p.Leu198Phe"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}