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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: 2-102338909-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=102338909&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 102338909,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_016232.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1RL1",
"gene_hgnc_id": 5998,
"hgvs_c": "c.134C>A",
"hgvs_p": "p.Thr45Asn",
"transcript": "NM_016232.5",
"protein_id": "NP_057316.3",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 556,
"cds_start": 134,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 344,
"cdna_end": null,
"cdna_length": 1997,
"mane_select": "ENST00000233954.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1RL1",
"gene_hgnc_id": 5998,
"hgvs_c": "c.134C>A",
"hgvs_p": "p.Thr45Asn",
"transcript": "ENST00000233954.6",
"protein_id": "ENSP00000233954.1",
"transcript_support_level": 1,
"aa_start": 45,
"aa_end": null,
"aa_length": 556,
"cds_start": 134,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 344,
"cdna_end": null,
"cdna_length": 1997,
"mane_select": "NM_016232.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1RL1",
"gene_hgnc_id": 5998,
"hgvs_c": "c.134C>A",
"hgvs_p": "p.Thr45Asn",
"transcript": "ENST00000311734.6",
"protein_id": "ENSP00000310371.2",
"transcript_support_level": 1,
"aa_start": 45,
"aa_end": null,
"aa_length": 328,
"cds_start": 134,
"cds_end": null,
"cds_length": 987,
"cdna_start": 473,
"cdna_end": null,
"cdna_length": 3994,
"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": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1RL1",
"gene_hgnc_id": 5998,
"hgvs_c": "n.134C>A",
"hgvs_p": null,
"transcript": "ENST00000427077.1",
"protein_id": "ENSP00000391120.1",
"transcript_support_level": 1,
"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": 1680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1RL1",
"gene_hgnc_id": 5998,
"hgvs_c": "c.134C>A",
"hgvs_p": "p.Thr45Asn",
"transcript": "NM_003856.4",
"protein_id": "NP_003847.2",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 328,
"cds_start": 134,
"cds_end": null,
"cds_length": 987,
"cdna_start": 364,
"cdna_end": null,
"cdna_length": 3885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1RL1",
"gene_hgnc_id": 5998,
"hgvs_c": "c.134C>A",
"hgvs_p": "p.Thr45Asn",
"transcript": "ENST00000409584.5",
"protein_id": "ENSP00000386618.1",
"transcript_support_level": 5,
"aa_start": 45,
"aa_end": null,
"aa_length": 314,
"cds_start": 134,
"cds_end": null,
"cds_length": 945,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 2693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1RL1",
"gene_hgnc_id": 5998,
"hgvs_c": "c.134C>A",
"hgvs_p": "p.Thr45Asn",
"transcript": "XM_006712839.4",
"protein_id": "XP_006712902.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 556,
"cds_start": 134,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 364,
"cdna_end": null,
"cdna_length": 2336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1RL1",
"gene_hgnc_id": 5998,
"hgvs_c": "c.134C>A",
"hgvs_p": "p.Thr45Asn",
"transcript": "XM_011512151.2",
"protein_id": "XP_011510453.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 328,
"cds_start": 134,
"cds_end": null,
"cds_length": 987,
"cdna_start": 344,
"cdna_end": null,
"cdna_length": 3865,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1RL1",
"gene_hgnc_id": 5998,
"hgvs_c": "n.161C>A",
"hgvs_p": null,
"transcript": "ENST00000463990.1",
"protein_id": null,
"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": 718,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1RL1",
"gene_hgnc_id": 5998,
"hgvs_c": "n.378C>A",
"hgvs_p": null,
"transcript": "ENST00000473175.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 590,
"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": "IL1RL1",
"gene_hgnc_id": 5998,
"hgvs_c": "n.130C>A",
"hgvs_p": null,
"transcript": "ENST00000482701.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 547,
"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": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1RL1",
"gene_hgnc_id": 5998,
"hgvs_c": "n.364C>A",
"hgvs_p": null,
"transcript": "NR_104167.2",
"protein_id": null,
"transcript_support_level": null,
"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": 4055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL18R1",
"gene_hgnc_id": 5988,
"hgvs_c": "c.-28-23724C>A",
"hgvs_p": null,
"transcript": "ENST00000410040.5",
"protein_id": "ENSP00000386663.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 541,
"cds_start": -4,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL1RL1",
"gene_hgnc_id": 5998,
"hgvs_c": "c.-146-72C>A",
"hgvs_p": null,
"transcript": "NM_001282408.2",
"protein_id": "NP_001269337.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 211,
"cds_start": -4,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL1RL1",
"gene_hgnc_id": 5998,
"hgvs_c": "c.-146-72C>A",
"hgvs_p": null,
"transcript": "ENST00000404917.6",
"protein_id": "ENSP00000384822.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 211,
"cds_start": -4,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1RL1",
"gene_hgnc_id": 5998,
"hgvs_c": "c.*18C>A",
"hgvs_p": null,
"transcript": "ENST00000447231.5",
"protein_id": "ENSP00000409437.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 37,
"cds_start": -4,
"cds_end": null,
"cds_length": 116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "IL1RL1",
"gene_hgnc_id": 5998,
"dbsnp": "rs572486682",
"frequency_reference_population": 0.000018590034,
"hom_count_reference_population": 0,
"allele_count_reference_population": 30,
"gnomad_exomes_af": 0.0000191584,
"gnomad_genomes_af": 0.0000131346,
"gnomad_exomes_ac": 28,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.02686607837677002,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.025,
"revel_prediction": "Benign",
"alphamissense_score": 0.0816,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.159,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_016232.5",
"gene_symbol": "IL1RL1",
"hgnc_id": 5998,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.134C>A",
"hgvs_p": "p.Thr45Asn"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000410040.5",
"gene_symbol": "IL18R1",
"hgnc_id": 5988,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-28-23724C>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}