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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: 11-45867715-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=45867715&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 45867715,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_021117.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY2",
"gene_hgnc_id": 2385,
"hgvs_c": "c.845G>A",
"hgvs_p": "p.Arg282His",
"transcript": "NM_021117.5",
"protein_id": "NP_066940.3",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 593,
"cds_start": 845,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000616080.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021117.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY2",
"gene_hgnc_id": 2385,
"hgvs_c": "c.845G>A",
"hgvs_p": "p.Arg282His",
"transcript": "ENST00000616080.2",
"protein_id": "ENSP00000484684.1",
"transcript_support_level": 1,
"aa_start": 282,
"aa_end": null,
"aa_length": 593,
"cds_start": 845,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021117.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616080.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY2",
"gene_hgnc_id": 2385,
"hgvs_c": "c.908G>A",
"hgvs_p": "p.Arg303His",
"transcript": "ENST00000443527.6",
"protein_id": "ENSP00000406751.2",
"transcript_support_level": 1,
"aa_start": 303,
"aa_end": null,
"aa_length": 614,
"cds_start": 908,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443527.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY2",
"gene_hgnc_id": 2385,
"hgvs_c": "c.908G>A",
"hgvs_p": "p.Arg303His",
"transcript": "ENST00000616623.4",
"protein_id": "ENSP00000478187.1",
"transcript_support_level": 1,
"aa_start": 303,
"aa_end": null,
"aa_length": 614,
"cds_start": 908,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616623.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY2",
"gene_hgnc_id": 2385,
"hgvs_c": "c.965G>A",
"hgvs_p": "p.Arg322His",
"transcript": "ENST00000918213.1",
"protein_id": "ENSP00000588272.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 633,
"cds_start": 965,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918213.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY2",
"gene_hgnc_id": 2385,
"hgvs_c": "c.860G>A",
"hgvs_p": "p.Arg287His",
"transcript": "ENST00000852825.1",
"protein_id": "ENSP00000522884.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 598,
"cds_start": 860,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852825.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY2",
"gene_hgnc_id": 2385,
"hgvs_c": "c.845G>A",
"hgvs_p": "p.Arg282His",
"transcript": "ENST00000852826.1",
"protein_id": "ENSP00000522885.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 593,
"cds_start": 845,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852826.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY2",
"gene_hgnc_id": 2385,
"hgvs_c": "c.845G>A",
"hgvs_p": "p.Arg282His",
"transcript": "ENST00000852827.1",
"protein_id": "ENSP00000522886.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 593,
"cds_start": 845,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852827.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY2",
"gene_hgnc_id": 2385,
"hgvs_c": "c.845G>A",
"hgvs_p": "p.Arg282His",
"transcript": "ENST00000852822.1",
"protein_id": "ENSP00000522881.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 591,
"cds_start": 845,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852822.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY2",
"gene_hgnc_id": 2385,
"hgvs_c": "c.845G>A",
"hgvs_p": "p.Arg282His",
"transcript": "ENST00000968514.1",
"protein_id": "ENSP00000638573.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 562,
"cds_start": 845,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968514.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY2",
"gene_hgnc_id": 2385,
"hgvs_c": "c.845G>A",
"hgvs_p": "p.Arg282His",
"transcript": "ENST00000852824.1",
"protein_id": "ENSP00000522883.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 551,
"cds_start": 845,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852824.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY2",
"gene_hgnc_id": 2385,
"hgvs_c": "c.716G>A",
"hgvs_p": "p.Arg239His",
"transcript": "ENST00000852823.1",
"protein_id": "ENSP00000522882.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 550,
"cds_start": 716,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852823.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY2",
"gene_hgnc_id": 2385,
"hgvs_c": "c.662G>A",
"hgvs_p": "p.Arg221His",
"transcript": "NM_001127457.3",
"protein_id": "NP_001120929.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 532,
"cds_start": 662,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127457.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY2",
"gene_hgnc_id": 2385,
"hgvs_c": "c.662G>A",
"hgvs_p": "p.Arg221His",
"transcript": "ENST00000417225.6",
"protein_id": "ENSP00000397419.2",
"transcript_support_level": 2,
"aa_start": 221,
"aa_end": null,
"aa_length": 532,
"cds_start": 662,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417225.6"
},
{
"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": "CRY2",
"gene_hgnc_id": 2385,
"hgvs_c": "n.1091G>A",
"hgvs_p": null,
"transcript": "ENST00000495237.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000495237.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY2",
"gene_hgnc_id": 2385,
"hgvs_c": "n.288G>A",
"hgvs_p": null,
"transcript": "ENST00000496667.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000496667.1"
},
{
"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": "CRY2",
"gene_hgnc_id": 2385,
"hgvs_c": "n.157G>A",
"hgvs_p": null,
"transcript": "ENST00000525110.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000525110.1"
}
],
"gene_symbol": "CRY2",
"gene_hgnc_id": 2385,
"dbsnp": "rs772826263",
"frequency_reference_population": 0.000021684395,
"hom_count_reference_population": 0,
"allele_count_reference_population": 35,
"gnomad_exomes_af": 0.0000191533,
"gnomad_genomes_af": 0.0000459988,
"gnomad_exomes_ac": 28,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9612956047058105,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.852,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.6116,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.49,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 10.003,
"phylop100way_prediction": "Pathogenic",
"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": "PP3_Strong,BS2",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 4,
"pathogenic_score": 4,
"criteria": [
"PP3_Strong",
"BS2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_021117.5",
"gene_symbol": "CRY2",
"hgnc_id": 2385,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.845G>A",
"hgvs_p": "p.Arg282His"
}
],
"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
}