← 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: 2-112918606-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=112918606&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 112918606,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014439.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL37",
"gene_hgnc_id": 15563,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Trp",
"transcript": "NM_014439.4",
"protein_id": "NP_055254.2",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 218,
"cds_start": 454,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263326.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014439.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL37",
"gene_hgnc_id": 15563,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Trp",
"transcript": "ENST00000263326.8",
"protein_id": "ENSP00000263326.3",
"transcript_support_level": 1,
"aa_start": 152,
"aa_end": null,
"aa_length": 218,
"cds_start": 454,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014439.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263326.8"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL37",
"gene_hgnc_id": 15563,
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Arg131Trp",
"transcript": "ENST00000352179.7",
"protein_id": "ENSP00000263327.3",
"transcript_support_level": 1,
"aa_start": 131,
"aa_end": null,
"aa_length": 197,
"cds_start": 391,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352179.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL37",
"gene_hgnc_id": 15563,
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Arg126Trp",
"transcript": "ENST00000311328.2",
"protein_id": "ENSP00000309883.2",
"transcript_support_level": 1,
"aa_start": 126,
"aa_end": null,
"aa_length": 192,
"cds_start": 376,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311328.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL37",
"gene_hgnc_id": 15563,
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Arg112Trp",
"transcript": "ENST00000353225.7",
"protein_id": "ENSP00000309208.3",
"transcript_support_level": 1,
"aa_start": 112,
"aa_end": null,
"aa_length": 178,
"cds_start": 334,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353225.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "IL37",
"gene_hgnc_id": 15563,
"hgvs_c": "c.271C>T",
"hgvs_p": "p.Arg91Trp",
"transcript": "ENST00000349806.7",
"protein_id": "ENSP00000263328.3",
"transcript_support_level": 1,
"aa_start": 91,
"aa_end": null,
"aa_length": 157,
"cds_start": 271,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349806.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL37",
"gene_hgnc_id": 15563,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Trp",
"transcript": "ENST00000885704.1",
"protein_id": "ENSP00000555763.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 218,
"cds_start": 454,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885704.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL37",
"gene_hgnc_id": 15563,
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Arg131Trp",
"transcript": "NM_173202.2",
"protein_id": "NP_775294.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 197,
"cds_start": 391,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173202.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL37",
"gene_hgnc_id": 15563,
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Arg126Trp",
"transcript": "NM_173205.2",
"protein_id": "NP_775297.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 192,
"cds_start": 376,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173205.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL37",
"gene_hgnc_id": 15563,
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Arg112Trp",
"transcript": "NM_173204.2",
"protein_id": "NP_775296.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 178,
"cds_start": 334,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173204.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL37",
"gene_hgnc_id": 15563,
"hgvs_c": "c.271C>T",
"hgvs_p": "p.Arg91Trp",
"transcript": "NM_173203.2",
"protein_id": "NP_775295.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 157,
"cds_start": 271,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173203.2"
}
],
"gene_symbol": "IL37",
"gene_hgnc_id": 15563,
"dbsnp": "rs28947200",
"frequency_reference_population": 0.0011788959,
"hom_count_reference_population": 15,
"allele_count_reference_population": 1902,
"gnomad_exomes_af": 0.000728215,
"gnomad_genomes_af": 0.00550345,
"gnomad_exomes_ac": 1064,
"gnomad_genomes_ac": 838,
"gnomad_exomes_homalt": 10,
"gnomad_genomes_homalt": 5,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.005571275949478149,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07999999821186066,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.039,
"revel_prediction": "Benign",
"alphamissense_score": 0.1399,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.038,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.08,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_014439.4",
"gene_symbol": "IL37",
"hgnc_id": 15563,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Trp"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}