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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: 2-167250981-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=167250981&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 167250981,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000409195.6",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XIRP2",
"gene_hgnc_id": 14303,
"hgvs_c": "c.9589A>T",
"hgvs_p": "p.Ile3197Phe",
"transcript": "NM_152381.6",
"protein_id": "NP_689594.4",
"transcript_support_level": null,
"aa_start": 3197,
"aa_end": null,
"aa_length": 3549,
"cds_start": 9589,
"cds_end": null,
"cds_length": 10650,
"cdna_start": 9685,
"cdna_end": null,
"cdna_length": 12682,
"mane_select": "ENST00000409195.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XIRP2",
"gene_hgnc_id": 14303,
"hgvs_c": "c.9589A>T",
"hgvs_p": "p.Ile3197Phe",
"transcript": "ENST00000409195.6",
"protein_id": "ENSP00000386840.2",
"transcript_support_level": 5,
"aa_start": 3197,
"aa_end": null,
"aa_length": 3549,
"cds_start": 9589,
"cds_end": null,
"cds_length": 10650,
"cdna_start": 9685,
"cdna_end": null,
"cdna_length": 12682,
"mane_select": "NM_152381.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XIRP2",
"gene_hgnc_id": 14303,
"hgvs_c": "c.8923A>T",
"hgvs_p": "p.Ile2975Phe",
"transcript": "ENST00000409273.6",
"protein_id": "ENSP00000387255.1",
"transcript_support_level": 1,
"aa_start": 2975,
"aa_end": null,
"aa_length": 3327,
"cds_start": 8923,
"cds_end": null,
"cds_length": 9984,
"cdna_start": 9276,
"cdna_end": null,
"cdna_length": 12273,
"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": 9,
"intron_rank_end": null,
"gene_symbol": "XIRP2",
"gene_hgnc_id": 14303,
"hgvs_c": "c.1276-3051A>T",
"hgvs_p": null,
"transcript": "ENST00000409728.5",
"protein_id": "ENSP00000386619.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 971,
"cds_start": -4,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3391,
"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": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "XIRP2",
"gene_hgnc_id": 14303,
"hgvs_c": "c.1177-3051A>T",
"hgvs_p": null,
"transcript": "ENST00000409043.5",
"protein_id": "ENSP00000386454.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 938,
"cds_start": -4,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3292,
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "XIRP2",
"gene_hgnc_id": 14303,
"hgvs_c": "c.511-3051A>T",
"hgvs_p": null,
"transcript": "ENST00000409605.1",
"protein_id": "ENSP00000386981.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 716,
"cds_start": -4,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XIRP2",
"gene_hgnc_id": 14303,
"hgvs_c": "c.8923A>T",
"hgvs_p": "p.Ile2975Phe",
"transcript": "ENST00000672671.1",
"protein_id": "ENSP00000499978.1",
"transcript_support_level": null,
"aa_start": 2975,
"aa_end": null,
"aa_length": 3837,
"cds_start": 8923,
"cds_end": null,
"cds_length": 11514,
"cdna_start": 9187,
"cdna_end": null,
"cdna_length": 12154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XIRP2",
"gene_hgnc_id": 14303,
"hgvs_c": "c.9064A>T",
"hgvs_p": "p.Ile3022Phe",
"transcript": "ENST00000628543.2",
"protein_id": "ENSP00000486198.1",
"transcript_support_level": 5,
"aa_start": 3022,
"aa_end": null,
"aa_length": 3374,
"cds_start": 9064,
"cds_end": null,
"cds_length": 10125,
"cdna_start": 9189,
"cdna_end": null,
"cdna_length": 12182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XIRP2",
"gene_hgnc_id": 14303,
"hgvs_c": "c.8923A>T",
"hgvs_p": "p.Ile2975Phe",
"transcript": "NM_001199144.2",
"protein_id": "NP_001186073.1",
"transcript_support_level": null,
"aa_start": 2975,
"aa_end": null,
"aa_length": 3327,
"cds_start": 8923,
"cds_end": null,
"cds_length": 9984,
"cdna_start": 9187,
"cdna_end": null,
"cdna_length": 12184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XIRP2",
"gene_hgnc_id": 14303,
"hgvs_c": "c.8866A>T",
"hgvs_p": "p.Ile2956Phe",
"transcript": "XM_017003309.2",
"protein_id": "XP_016858798.1",
"transcript_support_level": null,
"aa_start": 2956,
"aa_end": null,
"aa_length": 3308,
"cds_start": 8866,
"cds_end": null,
"cds_length": 9927,
"cdna_start": 9138,
"cdna_end": null,
"cdna_length": 10234,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XIRP2",
"gene_hgnc_id": 14303,
"hgvs_c": "n.9145A>T",
"hgvs_p": null,
"transcript": "ENST00000672277.1",
"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": 10221,
"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": 9,
"intron_rank_end": null,
"gene_symbol": "XIRP2",
"gene_hgnc_id": 14303,
"hgvs_c": "c.1276-3051A>T",
"hgvs_p": null,
"transcript": "NM_001199143.2",
"protein_id": "NP_001186072.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 971,
"cds_start": -4,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3402,
"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": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "XIRP2",
"gene_hgnc_id": 14303,
"hgvs_c": "c.1201-3051A>T",
"hgvs_p": null,
"transcript": "ENST00000672716.1",
"protein_id": "ENSP00000500725.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 946,
"cds_start": -4,
"cds_end": null,
"cds_length": 2841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3024,
"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": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "XIRP2",
"gene_hgnc_id": 14303,
"hgvs_c": "c.1177-3051A>T",
"hgvs_p": null,
"transcript": "NM_001079810.4",
"protein_id": "NP_001073278.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 938,
"cds_start": -4,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3303,
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "XIRP2",
"gene_hgnc_id": 14303,
"hgvs_c": "c.511-3051A>T",
"hgvs_p": null,
"transcript": "NM_001199145.2",
"protein_id": "NP_001186074.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 716,
"cds_start": -4,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "XIRP2",
"gene_hgnc_id": 14303,
"dbsnp": "rs3749004",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10695409774780273,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.058,
"revel_prediction": "Benign",
"alphamissense_score": 0.109,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.272,
"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": "ENST00000409195.6",
"gene_symbol": "XIRP2",
"hgnc_id": 14303,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.9589A>T",
"hgvs_p": "p.Ile3197Phe"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}