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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: 1-111234907-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=111234907&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 111234907,
"ref": "G",
"alt": "A",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "NM_004000.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L2",
"gene_hgnc_id": 1933,
"hgvs_c": "c.330G>A",
"hgvs_p": "p.Gly110Gly",
"transcript": "NM_004000.3",
"protein_id": "NP_003991.2",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 390,
"cds_start": 330,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 347,
"cdna_end": null,
"cdna_length": 1416,
"mane_select": "ENST00000369748.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L2",
"gene_hgnc_id": 1933,
"hgvs_c": "c.330G>A",
"hgvs_p": "p.Gly110Gly",
"transcript": "ENST00000369748.9",
"protein_id": "ENSP00000358763.4",
"transcript_support_level": 1,
"aa_start": 110,
"aa_end": null,
"aa_length": 390,
"cds_start": 330,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 347,
"cdna_end": null,
"cdna_length": 1416,
"mane_select": "NM_004000.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L2",
"gene_hgnc_id": 1933,
"hgvs_c": "c.93G>A",
"hgvs_p": "p.Gly31Gly",
"transcript": "ENST00000466741.5",
"protein_id": "ENSP00000437086.1",
"transcript_support_level": 1,
"aa_start": 31,
"aa_end": null,
"aa_length": 311,
"cds_start": 93,
"cds_end": null,
"cds_length": 936,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 1518,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L2",
"gene_hgnc_id": 1933,
"hgvs_c": "c.330G>A",
"hgvs_p": "p.Gly110Gly",
"transcript": "ENST00000445067.6",
"protein_id": "ENSP00000437082.1",
"transcript_support_level": 5,
"aa_start": 110,
"aa_end": null,
"aa_length": 390,
"cds_start": 330,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1101,
"cdna_end": null,
"cdna_length": 2169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L2",
"gene_hgnc_id": 1933,
"hgvs_c": "c.300G>A",
"hgvs_p": "p.Gly100Gly",
"transcript": "NM_001025197.1",
"protein_id": "NP_001020368.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 380,
"cds_start": 300,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 371,
"cdna_end": null,
"cdna_length": 1440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L2",
"gene_hgnc_id": 1933,
"hgvs_c": "c.300G>A",
"hgvs_p": "p.Gly100Gly",
"transcript": "ENST00000369744.6",
"protein_id": "ENSP00000358759.2",
"transcript_support_level": 5,
"aa_start": 100,
"aa_end": null,
"aa_length": 380,
"cds_start": 300,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 1489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L2",
"gene_hgnc_id": 1933,
"hgvs_c": "c.93G>A",
"hgvs_p": "p.Gly31Gly",
"transcript": "NM_001025199.2",
"protein_id": "NP_001020370.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 311,
"cds_start": 93,
"cds_end": null,
"cds_length": 936,
"cdna_start": 406,
"cdna_end": null,
"cdna_length": 1475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L2",
"gene_hgnc_id": 1933,
"hgvs_c": "c.93G>A",
"hgvs_p": "p.Gly31Gly",
"transcript": "ENST00000524472.5",
"protein_id": "ENSP00000432049.1",
"transcript_support_level": 2,
"aa_start": 31,
"aa_end": null,
"aa_length": 311,
"cds_start": 93,
"cds_end": null,
"cds_length": 936,
"cdna_start": 322,
"cdna_end": null,
"cdna_length": 1435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L2",
"gene_hgnc_id": 1933,
"hgvs_c": "c.330G>A",
"hgvs_p": "p.Gly110Gly",
"transcript": "ENST00000528451.5",
"protein_id": "ENSP00000436077.1",
"transcript_support_level": 5,
"aa_start": 110,
"aa_end": null,
"aa_length": 219,
"cds_start": 330,
"cds_end": null,
"cds_length": 662,
"cdna_start": 614,
"cdna_end": null,
"cdna_length": 946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L2",
"gene_hgnc_id": 1933,
"hgvs_c": "c.330G>A",
"hgvs_p": "p.Gly110Gly",
"transcript": "ENST00000486561.6",
"protein_id": "ENSP00000431968.1",
"transcript_support_level": 5,
"aa_start": 110,
"aa_end": null,
"aa_length": 200,
"cds_start": 330,
"cds_end": null,
"cds_length": 605,
"cdna_start": 639,
"cdna_end": null,
"cdna_length": 914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L2",
"gene_hgnc_id": 1933,
"hgvs_c": "c.330G>A",
"hgvs_p": "p.Gly110Gly",
"transcript": "ENST00000474304.6",
"protein_id": "ENSP00000436380.2",
"transcript_support_level": 5,
"aa_start": 110,
"aa_end": null,
"aa_length": 181,
"cds_start": 330,
"cds_end": null,
"cds_length": 548,
"cdna_start": 382,
"cdna_end": null,
"cdna_length": 600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L2",
"gene_hgnc_id": 1933,
"hgvs_c": "c.93G>A",
"hgvs_p": "p.Gly31Gly",
"transcript": "ENST00000477185.6",
"protein_id": "ENSP00000436272.1",
"transcript_support_level": 5,
"aa_start": 31,
"aa_end": null,
"aa_length": 168,
"cds_start": 93,
"cds_end": null,
"cds_length": 508,
"cdna_start": 342,
"cdna_end": null,
"cdna_length": 757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L2",
"gene_hgnc_id": 1933,
"hgvs_c": "c.36G>A",
"hgvs_p": "p.Lys12Lys",
"transcript": "ENST00000467038.6",
"protein_id": "ENSP00000431978.1",
"transcript_support_level": 5,
"aa_start": 12,
"aa_end": null,
"aa_length": 144,
"cds_start": 36,
"cds_end": null,
"cds_length": 436,
"cdna_start": 332,
"cdna_end": null,
"cdna_length": 732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L2",
"gene_hgnc_id": 1933,
"hgvs_c": "c.93G>A",
"hgvs_p": "p.Gly31Gly",
"transcript": "ENST00000497587.6",
"protein_id": "ENSP00000436006.1",
"transcript_support_level": 5,
"aa_start": 31,
"aa_end": null,
"aa_length": 121,
"cds_start": 93,
"cds_end": null,
"cds_length": 368,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 589,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CHI3L2",
"gene_hgnc_id": 1933,
"hgvs_c": "c.234-1117G>A",
"hgvs_p": null,
"transcript": "ENST00000533831.6",
"protein_id": "ENSP00000433176.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 159,
"cds_start": -4,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"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": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L2",
"gene_hgnc_id": 1933,
"hgvs_c": "c.-109G>A",
"hgvs_p": null,
"transcript": "ENST00000497220.5",
"protein_id": "ENSP00000435250.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 183,
"cds_start": -4,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CHI3L2",
"gene_hgnc_id": 1933,
"dbsnp": "rs148892404",
"frequency_reference_population": 0.000068172325,
"hom_count_reference_population": 0,
"allele_count_reference_population": 110,
"gnomad_exomes_af": 0.0000670634,
"gnomad_genomes_af": 0.0000788157,
"gnomad_exomes_ac": 98,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6100000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.1379999965429306,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.371,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.000249414479423009,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_004000.3",
"gene_symbol": "CHI3L2",
"hgnc_id": 1933,
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.330G>A",
"hgvs_p": "p.Gly110Gly"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}