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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: 11-111911665-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=111911665&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 111911665,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000650687.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYAB",
"gene_hgnc_id": 2389,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.Pro20Pro",
"transcript": "NM_001289808.2",
"protein_id": "NP_001276737.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 175,
"cds_start": 60,
"cds_end": null,
"cds_length": 528,
"cdna_start": 106,
"cdna_end": null,
"cdna_length": 774,
"mane_select": "ENST00000650687.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYAB",
"gene_hgnc_id": 2389,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.Pro20Pro",
"transcript": "ENST00000650687.2",
"protein_id": "ENSP00000499082.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 175,
"cds_start": 60,
"cds_end": null,
"cds_length": 528,
"cdna_start": 106,
"cdna_end": null,
"cdna_length": 774,
"mane_select": "NM_001289808.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYAB",
"gene_hgnc_id": 2389,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.Pro20Pro",
"transcript": "ENST00000526180.6",
"protein_id": "ENSP00000436051.1",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 175,
"cds_start": 60,
"cds_end": null,
"cds_length": 528,
"cdna_start": 368,
"cdna_end": null,
"cdna_length": 977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYAB",
"gene_hgnc_id": 2389,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.Pro20Pro",
"transcript": "NM_001289807.1",
"protein_id": "NP_001276736.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 175,
"cds_start": 60,
"cds_end": null,
"cds_length": 528,
"cdna_start": 333,
"cdna_end": null,
"cdna_length": 945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYAB",
"gene_hgnc_id": 2389,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.Pro20Pro",
"transcript": "NM_001368245.1",
"protein_id": "NP_001355174.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 175,
"cds_start": 60,
"cds_end": null,
"cds_length": 528,
"cdna_start": 296,
"cdna_end": null,
"cdna_length": 964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYAB",
"gene_hgnc_id": 2389,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.Pro20Pro",
"transcript": "NM_001885.3",
"protein_id": "NP_001876.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 175,
"cds_start": 60,
"cds_end": null,
"cds_length": 528,
"cdna_start": 315,
"cdna_end": null,
"cdna_length": 983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYAB",
"gene_hgnc_id": 2389,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.Pro20Pro",
"transcript": "ENST00000227251.7",
"protein_id": "ENSP00000227251.3",
"transcript_support_level": 5,
"aa_start": 20,
"aa_end": null,
"aa_length": 175,
"cds_start": 60,
"cds_end": null,
"cds_length": 528,
"cdna_start": 245,
"cdna_end": null,
"cdna_length": 848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYAB",
"gene_hgnc_id": 2389,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.Pro20Pro",
"transcript": "ENST00000527899.6",
"protein_id": "ENSP00000436089.2",
"transcript_support_level": 2,
"aa_start": 20,
"aa_end": null,
"aa_length": 175,
"cds_start": 60,
"cds_end": null,
"cds_length": 528,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 1107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYAB",
"gene_hgnc_id": 2389,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.Pro20Pro",
"transcript": "ENST00000527950.5",
"protein_id": "ENSP00000437149.1",
"transcript_support_level": 5,
"aa_start": 20,
"aa_end": null,
"aa_length": 175,
"cds_start": 60,
"cds_end": null,
"cds_length": 528,
"cdna_start": 278,
"cdna_end": null,
"cdna_length": 887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYAB",
"gene_hgnc_id": 2389,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.Pro20Pro",
"transcript": "ENST00000531198.5",
"protein_id": "ENSP00000434247.1",
"transcript_support_level": 5,
"aa_start": 20,
"aa_end": null,
"aa_length": 175,
"cds_start": 60,
"cds_end": null,
"cds_length": 528,
"cdna_start": 427,
"cdna_end": null,
"cdna_length": 1013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYAB",
"gene_hgnc_id": 2389,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.Pro20Pro",
"transcript": "ENST00000533475.6",
"protein_id": "ENSP00000433560.1",
"transcript_support_level": 5,
"aa_start": 20,
"aa_end": null,
"aa_length": 175,
"cds_start": 60,
"cds_end": null,
"cds_length": 528,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 1117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYAB",
"gene_hgnc_id": 2389,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.Pro20Pro",
"transcript": "ENST00000533879.2",
"protein_id": "ENSP00000435931.2",
"transcript_support_level": 5,
"aa_start": 20,
"aa_end": null,
"aa_length": 175,
"cds_start": 60,
"cds_end": null,
"cds_length": 528,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 1057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYAB",
"gene_hgnc_id": 2389,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.Pro20Pro",
"transcript": "ENST00000616970.5",
"protein_id": "ENSP00000483554.1",
"transcript_support_level": 2,
"aa_start": 20,
"aa_end": null,
"aa_length": 175,
"cds_start": 60,
"cds_end": null,
"cds_length": 528,
"cdna_start": 333,
"cdna_end": null,
"cdna_length": 941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYAB",
"gene_hgnc_id": 2389,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.Pro20Pro",
"transcript": "ENST00000651164.1",
"protein_id": "ENSP00000498735.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 175,
"cds_start": 60,
"cds_end": null,
"cds_length": 528,
"cdna_start": 229,
"cdna_end": null,
"cdna_length": 836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYAB",
"gene_hgnc_id": 2389,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.Pro20Pro",
"transcript": "ENST00000533971.2",
"protein_id": "ENSP00000434269.1",
"transcript_support_level": 2,
"aa_start": 20,
"aa_end": null,
"aa_length": 155,
"cds_start": 60,
"cds_end": null,
"cds_length": 468,
"cdna_start": 338,
"cdna_end": null,
"cdna_length": 2271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYAB",
"gene_hgnc_id": 2389,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.Pro20Pro",
"transcript": "ENST00000529647.5",
"protein_id": "ENSP00000431754.1",
"transcript_support_level": 5,
"aa_start": 20,
"aa_end": null,
"aa_length": 128,
"cds_start": 60,
"cds_end": null,
"cds_length": 389,
"cdna_start": 366,
"cdna_end": null,
"cdna_length": 695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYAB",
"gene_hgnc_id": 2389,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.Pro20Pro",
"transcript": "ENST00000528628.5",
"protein_id": "ENSP00000432182.1",
"transcript_support_level": 5,
"aa_start": 20,
"aa_end": null,
"aa_length": 76,
"cds_start": 60,
"cds_end": null,
"cds_length": 232,
"cdna_start": 452,
"cdna_end": null,
"cdna_length": 624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "CRYAB",
"gene_hgnc_id": 2389,
"hgvs_c": "n.372C>T",
"hgvs_p": null,
"transcript": "ENST00000652223.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "CRYAB",
"gene_hgnc_id": 2389,
"hgvs_c": "n.304C>T",
"hgvs_p": null,
"transcript": "ENST00000652606.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CRYAB",
"gene_hgnc_id": 2389,
"dbsnp": "rs4252582",
"frequency_reference_population": 0.0022773931,
"hom_count_reference_population": 108,
"allele_count_reference_population": 3663,
"gnomad_exomes_af": 0.00239605,
"gnomad_genomes_af": 0.00114269,
"gnomad_exomes_ac": 3489,
"gnomad_genomes_ac": 174,
"gnomad_exomes_homalt": 102,
"gnomad_genomes_homalt": 6,
"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,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.62,
"phylop100way_prediction": "Benign",
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000650687.2",
"gene_symbol": "CRYAB",
"hgnc_id": 2389,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.60C>T",
"hgvs_p": "p.Pro20Pro"
}
],
"clinvar_disease": "Cardiomyopathy,Cardiovascular phenotype,Cataract 16 multiple types,Dilated cardiomyopathy 1II,Fatal infantile hypertonic myofibrillar myopathy,Myofibrillar myopathy 2,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:8",
"phenotype_combined": "not specified|Cataract 16 multiple types|Fatal infantile hypertonic myofibrillar myopathy|Cardiovascular phenotype|Myofibrillar myopathy 2|Dilated cardiomyopathy 1II|Cardiomyopathy|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}