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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: 1-111236125-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=111236125&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 111236125,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_004000.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L2",
"gene_hgnc_id": 1933,
"hgvs_c": "c.707A>C",
"hgvs_p": "p.Asp236Ala",
"transcript": "NM_004000.3",
"protein_id": "NP_003991.2",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 390,
"cds_start": 707,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 724,
"cdna_end": null,
"cdna_length": 1416,
"mane_select": "ENST00000369748.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L2",
"gene_hgnc_id": 1933,
"hgvs_c": "c.707A>C",
"hgvs_p": "p.Asp236Ala",
"transcript": "ENST00000369748.9",
"protein_id": "ENSP00000358763.4",
"transcript_support_level": 1,
"aa_start": 236,
"aa_end": null,
"aa_length": 390,
"cds_start": 707,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 724,
"cdna_end": null,
"cdna_length": 1416,
"mane_select": "NM_004000.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L2",
"gene_hgnc_id": 1933,
"hgvs_c": "c.470A>C",
"hgvs_p": "p.Asp157Ala",
"transcript": "ENST00000466741.5",
"protein_id": "ENSP00000437086.1",
"transcript_support_level": 1,
"aa_start": 157,
"aa_end": null,
"aa_length": 311,
"cds_start": 470,
"cds_end": null,
"cds_length": 936,
"cdna_start": 827,
"cdna_end": null,
"cdna_length": 1518,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L2",
"gene_hgnc_id": 1933,
"hgvs_c": "c.707A>C",
"hgvs_p": "p.Asp236Ala",
"transcript": "ENST00000445067.6",
"protein_id": "ENSP00000437082.1",
"transcript_support_level": 5,
"aa_start": 236,
"aa_end": null,
"aa_length": 390,
"cds_start": 707,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1478,
"cdna_end": null,
"cdna_length": 2169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L2",
"gene_hgnc_id": 1933,
"hgvs_c": "c.677A>C",
"hgvs_p": "p.Asp226Ala",
"transcript": "NM_001025197.1",
"protein_id": "NP_001020368.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 380,
"cds_start": 677,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 748,
"cdna_end": null,
"cdna_length": 1440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L2",
"gene_hgnc_id": 1933,
"hgvs_c": "c.677A>C",
"hgvs_p": "p.Asp226Ala",
"transcript": "ENST00000369744.6",
"protein_id": "ENSP00000358759.2",
"transcript_support_level": 5,
"aa_start": 226,
"aa_end": null,
"aa_length": 380,
"cds_start": 677,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 1489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L2",
"gene_hgnc_id": 1933,
"hgvs_c": "c.470A>C",
"hgvs_p": "p.Asp157Ala",
"transcript": "NM_001025199.2",
"protein_id": "NP_001020370.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 311,
"cds_start": 470,
"cds_end": null,
"cds_length": 936,
"cdna_start": 783,
"cdna_end": null,
"cdna_length": 1475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L2",
"gene_hgnc_id": 1933,
"hgvs_c": "c.470A>C",
"hgvs_p": "p.Asp157Ala",
"transcript": "ENST00000524472.5",
"protein_id": "ENSP00000432049.1",
"transcript_support_level": 2,
"aa_start": 157,
"aa_end": null,
"aa_length": 311,
"cds_start": 470,
"cds_end": null,
"cds_length": 936,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 1435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"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.269A>C",
"hgvs_p": "p.Asp90Ala",
"transcript": "ENST00000497220.5",
"protein_id": "ENSP00000435250.1",
"transcript_support_level": 5,
"aa_start": 90,
"aa_end": null,
"aa_length": 183,
"cds_start": 269,
"cds_end": null,
"cds_length": 552,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"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": "CHI3L2",
"gene_hgnc_id": 1933,
"hgvs_c": "c.470A>C",
"hgvs_p": "p.Asp157Ala",
"transcript": "ENST00000477185.6",
"protein_id": "ENSP00000436272.1",
"transcript_support_level": 5,
"aa_start": 157,
"aa_end": null,
"aa_length": 168,
"cds_start": 470,
"cds_end": null,
"cds_length": 508,
"cdna_start": 719,
"cdna_end": null,
"cdna_length": 757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L2",
"gene_hgnc_id": 1933,
"hgvs_c": "c.335A>C",
"hgvs_p": "p.Asp112Ala",
"transcript": "ENST00000533831.6",
"protein_id": "ENSP00000433176.2",
"transcript_support_level": 5,
"aa_start": 112,
"aa_end": null,
"aa_length": 159,
"cds_start": 335,
"cds_end": null,
"cds_length": 480,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"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": "CHI3L2",
"gene_hgnc_id": 1933,
"hgvs_c": "c.413A>C",
"hgvs_p": "p.Asp138Ala",
"transcript": "ENST00000467038.6",
"protein_id": "ENSP00000431978.1",
"transcript_support_level": 5,
"aa_start": 138,
"aa_end": null,
"aa_length": 144,
"cds_start": 413,
"cds_end": null,
"cds_length": 436,
"cdna_start": 709,
"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": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L2",
"gene_hgnc_id": 1933,
"hgvs_c": "c.*45A>C",
"hgvs_p": null,
"transcript": "ENST00000528451.5",
"protein_id": "ENSP00000436077.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 219,
"cds_start": -4,
"cds_end": null,
"cds_length": 662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CHI3L2",
"gene_hgnc_id": 1933,
"dbsnp": "rs753494309",
"frequency_reference_population": 0.000019837335,
"hom_count_reference_population": 0,
"allele_count_reference_population": 29,
"gnomad_exomes_af": 0.0000198373,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 29,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7091572284698486,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.201,
"revel_prediction": "Benign",
"alphamissense_score": 0.5274,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.736,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004000.3",
"gene_symbol": "CHI3L2",
"hgnc_id": 1933,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.707A>C",
"hgvs_p": "p.Asp236Ala"
}
],
"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
}