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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: 11-111911609-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=111911609&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 111911609,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000650687.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "NM_001289808.2",
"protein_id": "NP_001276737.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 175,
"cds_start": 116,
"cds_end": null,
"cds_length": 528,
"cdna_start": 162,
"cdna_end": null,
"cdna_length": 774,
"mane_select": "ENST00000650687.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000650687.2",
"protein_id": "ENSP00000499082.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 175,
"cds_start": 116,
"cds_end": null,
"cds_length": 528,
"cdna_start": 162,
"cdna_end": null,
"cdna_length": 774,
"mane_select": "NM_001289808.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000526180.6",
"protein_id": "ENSP00000436051.1",
"transcript_support_level": 1,
"aa_start": 39,
"aa_end": null,
"aa_length": 175,
"cds_start": 116,
"cds_end": null,
"cds_length": 528,
"cdna_start": 424,
"cdna_end": null,
"cdna_length": 977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "NM_001289807.1",
"protein_id": "NP_001276736.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 175,
"cds_start": 116,
"cds_end": null,
"cds_length": 528,
"cdna_start": 389,
"cdna_end": null,
"cdna_length": 945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "NM_001368245.1",
"protein_id": "NP_001355174.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 175,
"cds_start": 116,
"cds_end": null,
"cds_length": 528,
"cdna_start": 352,
"cdna_end": null,
"cdna_length": 964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "NM_001885.3",
"protein_id": "NP_001876.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 175,
"cds_start": 116,
"cds_end": null,
"cds_length": 528,
"cdna_start": 371,
"cdna_end": null,
"cdna_length": 983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000227251.7",
"protein_id": "ENSP00000227251.3",
"transcript_support_level": 5,
"aa_start": 39,
"aa_end": null,
"aa_length": 175,
"cds_start": 116,
"cds_end": null,
"cds_length": 528,
"cdna_start": 301,
"cdna_end": null,
"cdna_length": 848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000527899.6",
"protein_id": "ENSP00000436089.2",
"transcript_support_level": 2,
"aa_start": 39,
"aa_end": null,
"aa_length": 175,
"cds_start": 116,
"cds_end": null,
"cds_length": 528,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 1107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000527950.5",
"protein_id": "ENSP00000437149.1",
"transcript_support_level": 5,
"aa_start": 39,
"aa_end": null,
"aa_length": 175,
"cds_start": 116,
"cds_end": null,
"cds_length": 528,
"cdna_start": 334,
"cdna_end": null,
"cdna_length": 887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000531198.5",
"protein_id": "ENSP00000434247.1",
"transcript_support_level": 5,
"aa_start": 39,
"aa_end": null,
"aa_length": 175,
"cds_start": 116,
"cds_end": null,
"cds_length": 528,
"cdna_start": 483,
"cdna_end": null,
"cdna_length": 1013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000533475.6",
"protein_id": "ENSP00000433560.1",
"transcript_support_level": 5,
"aa_start": 39,
"aa_end": null,
"aa_length": 175,
"cds_start": 116,
"cds_end": null,
"cds_length": 528,
"cdna_start": 566,
"cdna_end": null,
"cdna_length": 1117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000533879.2",
"protein_id": "ENSP00000435931.2",
"transcript_support_level": 5,
"aa_start": 39,
"aa_end": null,
"aa_length": 175,
"cds_start": 116,
"cds_end": null,
"cds_length": 528,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 1057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000616970.5",
"protein_id": "ENSP00000483554.1",
"transcript_support_level": 2,
"aa_start": 39,
"aa_end": null,
"aa_length": 175,
"cds_start": 116,
"cds_end": null,
"cds_length": 528,
"cdna_start": 389,
"cdna_end": null,
"cdna_length": 941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000651164.1",
"protein_id": "ENSP00000498735.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 175,
"cds_start": 116,
"cds_end": null,
"cds_length": 528,
"cdna_start": 285,
"cdna_end": null,
"cdna_length": 836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000533971.2",
"protein_id": "ENSP00000434269.1",
"transcript_support_level": 2,
"aa_start": 39,
"aa_end": null,
"aa_length": 155,
"cds_start": 116,
"cds_end": null,
"cds_length": 468,
"cdna_start": 394,
"cdna_end": null,
"cdna_length": 2271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000529647.5",
"protein_id": "ENSP00000431754.1",
"transcript_support_level": 5,
"aa_start": 39,
"aa_end": null,
"aa_length": 128,
"cds_start": 116,
"cds_end": null,
"cds_length": 389,
"cdna_start": 422,
"cdna_end": null,
"cdna_length": 695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000528628.5",
"protein_id": "ENSP00000432182.1",
"transcript_support_level": 5,
"aa_start": 39,
"aa_end": null,
"aa_length": 76,
"cds_start": 116,
"cds_end": null,
"cds_length": 232,
"cdna_start": 508,
"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.428C>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.360C>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": "rs149787233",
"frequency_reference_population": 0.00018910436,
"hom_count_reference_population": 0,
"allele_count_reference_population": 305,
"gnomad_exomes_af": 0.000189624,
"gnomad_genomes_af": 0.000184116,
"gnomad_exomes_ac": 277,
"gnomad_genomes_ac": 28,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7024062871932983,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.678,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.2105,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.138,
"phylop100way_prediction": "Uncertain_significance",
"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": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000650687.2",
"gene_symbol": "CRYAB",
"hgnc_id": 2389,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu"
}
],
"clinvar_disease": "Cardiovascular phenotype,Cataract 16 multiple types,Dilated cardiomyopathy 1II,Fatal infantile hypertonic myofibrillar myopathy,Myofibrillar myopathy 2,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:10 LB:1 B:2",
"phenotype_combined": "not specified|Cataract 16 multiple types|Myofibrillar myopathy 2|Cardiovascular phenotype|Fatal infantile hypertonic myofibrillar myopathy|Dilated cardiomyopathy 1II|not provided|Myofibrillar myopathy 2;Fatal infantile hypertonic myofibrillar myopathy;Dilated cardiomyopathy 1II;Cataract 16 multiple types",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}