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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: 11-45860915-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=45860915&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 45860915,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_021117.5",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY2",
"gene_hgnc_id": 2385,
"hgvs_c": "c.535A>G",
"hgvs_p": "p.Met179Val",
"transcript": "NM_021117.5",
"protein_id": "NP_066940.3",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 593,
"cds_start": 535,
"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": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY2",
"gene_hgnc_id": 2385,
"hgvs_c": "c.535A>G",
"hgvs_p": "p.Met179Val",
"transcript": "ENST00000616080.2",
"protein_id": "ENSP00000484684.1",
"transcript_support_level": 1,
"aa_start": 179,
"aa_end": null,
"aa_length": 593,
"cds_start": 535,
"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": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY2",
"gene_hgnc_id": 2385,
"hgvs_c": "c.598A>G",
"hgvs_p": "p.Met200Val",
"transcript": "ENST00000443527.6",
"protein_id": "ENSP00000406751.2",
"transcript_support_level": 1,
"aa_start": 200,
"aa_end": null,
"aa_length": 614,
"cds_start": 598,
"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": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY2",
"gene_hgnc_id": 2385,
"hgvs_c": "c.598A>G",
"hgvs_p": "p.Met200Val",
"transcript": "ENST00000616623.4",
"protein_id": "ENSP00000478187.1",
"transcript_support_level": 1,
"aa_start": 200,
"aa_end": null,
"aa_length": 614,
"cds_start": 598,
"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": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY2",
"gene_hgnc_id": 2385,
"hgvs_c": "c.535A>G",
"hgvs_p": "p.Met179Val",
"transcript": "ENST00000918213.1",
"protein_id": "ENSP00000588272.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 633,
"cds_start": 535,
"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": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY2",
"gene_hgnc_id": 2385,
"hgvs_c": "c.550A>G",
"hgvs_p": "p.Met184Val",
"transcript": "ENST00000852825.1",
"protein_id": "ENSP00000522884.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 598,
"cds_start": 550,
"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": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY2",
"gene_hgnc_id": 2385,
"hgvs_c": "c.535A>G",
"hgvs_p": "p.Met179Val",
"transcript": "ENST00000852826.1",
"protein_id": "ENSP00000522885.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 593,
"cds_start": 535,
"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": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY2",
"gene_hgnc_id": 2385,
"hgvs_c": "c.535A>G",
"hgvs_p": "p.Met179Val",
"transcript": "ENST00000852827.1",
"protein_id": "ENSP00000522886.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 593,
"cds_start": 535,
"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": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY2",
"gene_hgnc_id": 2385,
"hgvs_c": "c.535A>G",
"hgvs_p": "p.Met179Val",
"transcript": "ENST00000852822.1",
"protein_id": "ENSP00000522881.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 591,
"cds_start": 535,
"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": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY2",
"gene_hgnc_id": 2385,
"hgvs_c": "c.535A>G",
"hgvs_p": "p.Met179Val",
"transcript": "ENST00000968514.1",
"protein_id": "ENSP00000638573.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 562,
"cds_start": 535,
"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": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY2",
"gene_hgnc_id": 2385,
"hgvs_c": "c.535A>G",
"hgvs_p": "p.Met179Val",
"transcript": "ENST00000852824.1",
"protein_id": "ENSP00000522883.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 551,
"cds_start": 535,
"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": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY2",
"gene_hgnc_id": 2385,
"hgvs_c": "c.406A>G",
"hgvs_p": "p.Met136Val",
"transcript": "ENST00000852823.1",
"protein_id": "ENSP00000522882.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 550,
"cds_start": 406,
"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": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY2",
"gene_hgnc_id": 2385,
"hgvs_c": "c.352A>G",
"hgvs_p": "p.Met118Val",
"transcript": "NM_001127457.3",
"protein_id": "NP_001120929.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 532,
"cds_start": 352,
"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": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY2",
"gene_hgnc_id": 2385,
"hgvs_c": "c.352A>G",
"hgvs_p": "p.Met118Val",
"transcript": "ENST00000417225.6",
"protein_id": "ENSP00000397419.2",
"transcript_support_level": 2,
"aa_start": 118,
"aa_end": null,
"aa_length": 532,
"cds_start": 352,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY2",
"gene_hgnc_id": 2385,
"hgvs_c": "n.496A>G",
"hgvs_p": null,
"transcript": "ENST00000532390.5",
"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": "pseudogene",
"feature": "ENST00000532390.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY2",
"gene_hgnc_id": 2385,
"hgvs_c": "n.318A>G",
"hgvs_p": null,
"transcript": "ENST00000533779.1",
"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": "pseudogene",
"feature": "ENST00000533779.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CRY2",
"gene_hgnc_id": 2385,
"hgvs_c": "n.481-1145A>G",
"hgvs_p": null,
"transcript": "ENST00000473199.5",
"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": "pseudogene",
"feature": "ENST00000473199.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY2",
"gene_hgnc_id": 2385,
"hgvs_c": "n.-247A>G",
"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": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY2",
"gene_hgnc_id": 2385,
"hgvs_c": "n.-65A>G",
"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": "rs751289197",
"frequency_reference_population": 0.0000020521998,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.0000020522,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3080013394355774,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.202,
"revel_prediction": "Benign",
"alphamissense_score": 0.3177,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.514,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_021117.5",
"gene_symbol": "CRY2",
"hgnc_id": 2385,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.535A>G",
"hgvs_p": "p.Met179Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}