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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: 1-111230861-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=111230861&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 111230861,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_004000.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"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": "CHI3L2",
"gene_hgnc_id": 1933,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Ala64Thr",
"transcript": "NM_004000.3",
"protein_id": "NP_003991.2",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 390,
"cds_start": 190,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 207,
"cdna_end": null,
"cdna_length": 1416,
"mane_select": "ENST00000369748.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "CHI3L2",
"gene_hgnc_id": 1933,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Ala64Thr",
"transcript": "ENST00000369748.9",
"protein_id": "ENSP00000358763.4",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 390,
"cds_start": 190,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 207,
"cdna_end": null,
"cdna_length": 1416,
"mane_select": "NM_004000.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L2",
"gene_hgnc_id": 1933,
"hgvs_c": "c.-48G>A",
"hgvs_p": null,
"transcript": "ENST00000466741.5",
"protein_id": "ENSP00000437086.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 311,
"cds_start": -4,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1518,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L2",
"gene_hgnc_id": 1933,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Ala64Thr",
"transcript": "ENST00000445067.6",
"protein_id": "ENSP00000437082.1",
"transcript_support_level": 5,
"aa_start": 64,
"aa_end": null,
"aa_length": 390,
"cds_start": 190,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 2169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L2",
"gene_hgnc_id": 1933,
"hgvs_c": "c.160G>A",
"hgvs_p": "p.Ala54Thr",
"transcript": "NM_001025197.1",
"protein_id": "NP_001020368.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 380,
"cds_start": 160,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 231,
"cdna_end": null,
"cdna_length": 1440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L2",
"gene_hgnc_id": 1933,
"hgvs_c": "c.160G>A",
"hgvs_p": "p.Ala54Thr",
"transcript": "ENST00000369744.6",
"protein_id": "ENSP00000358759.2",
"transcript_support_level": 5,
"aa_start": 54,
"aa_end": null,
"aa_length": 380,
"cds_start": 160,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 280,
"cdna_end": null,
"cdna_length": 1489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L2",
"gene_hgnc_id": 1933,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Ala64Thr",
"transcript": "ENST00000528451.5",
"protein_id": "ENSP00000436077.1",
"transcript_support_level": 5,
"aa_start": 64,
"aa_end": null,
"aa_length": 219,
"cds_start": 190,
"cds_end": null,
"cds_length": 662,
"cdna_start": 474,
"cdna_end": null,
"cdna_length": 946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L2",
"gene_hgnc_id": 1933,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Ala64Thr",
"transcript": "ENST00000486561.6",
"protein_id": "ENSP00000431968.1",
"transcript_support_level": 5,
"aa_start": 64,
"aa_end": null,
"aa_length": 200,
"cds_start": 190,
"cds_end": null,
"cds_length": 605,
"cdna_start": 499,
"cdna_end": null,
"cdna_length": 914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L2",
"gene_hgnc_id": 1933,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Ala64Thr",
"transcript": "ENST00000474304.6",
"protein_id": "ENSP00000436380.2",
"transcript_support_level": 5,
"aa_start": 64,
"aa_end": null,
"aa_length": 181,
"cds_start": 190,
"cds_end": null,
"cds_length": 548,
"cdna_start": 242,
"cdna_end": null,
"cdna_length": 600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L2",
"gene_hgnc_id": 1933,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Ala32Thr",
"transcript": "ENST00000533831.6",
"protein_id": "ENSP00000433176.2",
"transcript_support_level": 5,
"aa_start": 32,
"aa_end": null,
"aa_length": 159,
"cds_start": 94,
"cds_end": null,
"cds_length": 480,
"cdna_start": 96,
"cdna_end": null,
"cdna_length": 482,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L2",
"gene_hgnc_id": 1933,
"hgvs_c": "n.224G>A",
"hgvs_p": null,
"transcript": "ENST00000526684.1",
"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": 541,
"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": "CHI3L2",
"gene_hgnc_id": 1933,
"hgvs_c": "n.214G>A",
"hgvs_p": null,
"transcript": "ENST00000530597.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L2",
"gene_hgnc_id": 1933,
"hgvs_c": "c.-48G>A",
"hgvs_p": null,
"transcript": "NM_001025199.2",
"protein_id": "NP_001020370.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 311,
"cds_start": -4,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L2",
"gene_hgnc_id": 1933,
"hgvs_c": "c.-48G>A",
"hgvs_p": null,
"transcript": "ENST00000524472.5",
"protein_id": "ENSP00000432049.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 311,
"cds_start": -4,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L2",
"gene_hgnc_id": 1933,
"hgvs_c": "c.-48G>A",
"hgvs_p": null,
"transcript": "ENST00000477185.6",
"protein_id": "ENSP00000436272.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 168,
"cds_start": -4,
"cds_end": null,
"cds_length": 508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L2",
"gene_hgnc_id": 1933,
"hgvs_c": "c.-48G>A",
"hgvs_p": null,
"transcript": "ENST00000467038.6",
"protein_id": "ENSP00000431978.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 144,
"cds_start": -4,
"cds_end": null,
"cds_length": 436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L2",
"gene_hgnc_id": 1933,
"hgvs_c": "c.-48G>A",
"hgvs_p": null,
"transcript": "ENST00000497587.6",
"protein_id": "ENSP00000436006.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 121,
"cds_start": -4,
"cds_end": null,
"cds_length": 368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CHI3L2",
"gene_hgnc_id": 1933,
"dbsnp": "rs140943629",
"frequency_reference_population": 0.000016730593,
"hom_count_reference_population": 0,
"allele_count_reference_population": 27,
"gnomad_exomes_af": 0.0000157335,
"gnomad_genomes_af": 0.0000263224,
"gnomad_exomes_ac": 23,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.25111913681030273,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.226,
"revel_prediction": "Benign",
"alphamissense_score": 0.1777,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.039,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"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_004000.3",
"gene_symbol": "CHI3L2",
"hgnc_id": 1933,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Ala64Thr"
}
],
"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
}