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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: 11-111908948-GA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=111908948&ref=GA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1_Strong",
"PS3",
"PP5"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "CRYAB",
"hgnc_id": 2389,
"hgvs_c": "c.343delT",
"hgvs_p": "p.Ser115fs",
"inheritance_mode": "AD,AR",
"pathogenic_score": 9,
"score": 9,
"transcript": "NM_001885.3",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Strong,PS3,PP5",
"acmg_score": 9,
"allele_count_reference_population": 16,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "11",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Cardiovascular phenotype,Cataract 16 multiple types,Dilated cardiomyopathy 1II,Fatal infantile hypertonic myofibrillar myopathy,Myofibrillar myopathy 2,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:4 LP:1 US:1 O:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 175,
"aa_ref": "S",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 774,
"cdna_start": 389,
"cds_end": null,
"cds_length": 528,
"cds_start": 343,
"consequences": [
"frameshift_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001289808.2",
"gene_hgnc_id": 2389,
"gene_symbol": "CRYAB",
"hgvs_c": "c.343delT",
"hgvs_p": "p.Ser115fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000650687.2",
"protein_coding": true,
"protein_id": "NP_001276737.1",
"strand": false,
"transcript": "NM_001289808.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 175,
"aa_ref": "S",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 774,
"cdna_start": 389,
"cds_end": null,
"cds_length": 528,
"cds_start": 343,
"consequences": [
"frameshift_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000650687.2",
"gene_hgnc_id": 2389,
"gene_symbol": "CRYAB",
"hgvs_c": "c.343delT",
"hgvs_p": "p.Ser115fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001289808.2",
"protein_coding": true,
"protein_id": "ENSP00000499082.1",
"strand": false,
"transcript": "ENST00000650687.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 175,
"aa_ref": "S",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 977,
"cdna_start": 651,
"cds_end": null,
"cds_length": 528,
"cds_start": 343,
"consequences": [
"frameshift_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000526180.6",
"gene_hgnc_id": 2389,
"gene_symbol": "CRYAB",
"hgvs_c": "c.343delT",
"hgvs_p": "p.Ser115fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000436051.1",
"strand": false,
"transcript": "ENST00000526180.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 175,
"aa_ref": "S",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 945,
"cdna_start": 616,
"cds_end": null,
"cds_length": 528,
"cds_start": 343,
"consequences": [
"frameshift_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001289807.1",
"gene_hgnc_id": 2389,
"gene_symbol": "CRYAB",
"hgvs_c": "c.343delT",
"hgvs_p": "p.Ser115fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001276736.1",
"strand": false,
"transcript": "NM_001289807.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 175,
"aa_ref": "S",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 964,
"cdna_start": 579,
"cds_end": null,
"cds_length": 528,
"cds_start": 343,
"consequences": [
"frameshift_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001368245.1",
"gene_hgnc_id": 2389,
"gene_symbol": "CRYAB",
"hgvs_c": "c.343delT",
"hgvs_p": "p.Ser115fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001355174.1",
"strand": false,
"transcript": "NM_001368245.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 175,
"aa_ref": "S",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 983,
"cdna_start": 598,
"cds_end": null,
"cds_length": 528,
"cds_start": 343,
"consequences": [
"frameshift_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001885.3",
"gene_hgnc_id": 2389,
"gene_symbol": "CRYAB",
"hgvs_c": "c.343delT",
"hgvs_p": "p.Ser115fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001876.1",
"strand": false,
"transcript": "NM_001885.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 175,
"aa_ref": "S",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 848,
"cdna_start": 528,
"cds_end": null,
"cds_length": 528,
"cds_start": 343,
"consequences": [
"frameshift_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000227251.7",
"gene_hgnc_id": 2389,
"gene_symbol": "CRYAB",
"hgvs_c": "c.343delT",
"hgvs_p": "p.Ser115fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000227251.3",
"strand": false,
"transcript": "ENST00000227251.7",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 175,
"aa_ref": "S",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1107,
"cdna_start": 784,
"cds_end": null,
"cds_length": 528,
"cds_start": 343,
"consequences": [
"frameshift_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000527899.6",
"gene_hgnc_id": 2389,
"gene_symbol": "CRYAB",
"hgvs_c": "c.343delT",
"hgvs_p": "p.Ser115fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000436089.2",
"strand": false,
"transcript": "ENST00000527899.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 175,
"aa_ref": "S",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 887,
"cdna_start": 561,
"cds_end": null,
"cds_length": 528,
"cds_start": 343,
"consequences": [
"frameshift_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000527950.5",
"gene_hgnc_id": 2389,
"gene_symbol": "CRYAB",
"hgvs_c": "c.343delT",
"hgvs_p": "p.Ser115fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437149.1",
"strand": false,
"transcript": "ENST00000527950.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 175,
"aa_ref": "S",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1013,
"cdna_start": 710,
"cds_end": null,
"cds_length": 528,
"cds_start": 343,
"consequences": [
"frameshift_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000531198.5",
"gene_hgnc_id": 2389,
"gene_symbol": "CRYAB",
"hgvs_c": "c.343delT",
"hgvs_p": "p.Ser115fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434247.1",
"strand": false,
"transcript": "ENST00000531198.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 175,
"aa_ref": "S",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1117,
"cdna_start": 793,
"cds_end": null,
"cds_length": 528,
"cds_start": 343,
"consequences": [
"frameshift_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000533475.6",
"gene_hgnc_id": 2389,
"gene_symbol": "CRYAB",
"hgvs_c": "c.343delT",
"hgvs_p": "p.Ser115fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433560.1",
"strand": false,
"transcript": "ENST00000533475.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 175,
"aa_ref": "S",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1057,
"cdna_start": 733,
"cds_end": null,
"cds_length": 528,
"cds_start": 343,
"consequences": [
"frameshift_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000533879.2",
"gene_hgnc_id": 2389,
"gene_symbol": "CRYAB",
"hgvs_c": "c.343delT",
"hgvs_p": "p.Ser115fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435931.2",
"strand": false,
"transcript": "ENST00000533879.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 175,
"aa_ref": "S",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 941,
"cdna_start": 616,
"cds_end": null,
"cds_length": 528,
"cds_start": 343,
"consequences": [
"frameshift_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000616970.5",
"gene_hgnc_id": 2389,
"gene_symbol": "CRYAB",
"hgvs_c": "c.343delT",
"hgvs_p": "p.Ser115fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000483554.1",
"strand": false,
"transcript": "ENST00000616970.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 175,
"aa_ref": "S",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 836,
"cdna_start": 512,
"cds_end": null,
"cds_length": 528,
"cds_start": 343,
"consequences": [
"frameshift_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000651164.1",
"gene_hgnc_id": 2389,
"gene_symbol": "CRYAB",
"hgvs_c": "c.343delT",
"hgvs_p": "p.Ser115fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498735.1",
"strand": false,
"transcript": "ENST00000651164.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 175,
"aa_ref": "S",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1421,
"cdna_start": 1097,
"cds_end": null,
"cds_length": 528,
"cds_start": 343,
"consequences": [
"frameshift_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000858791.1",
"gene_hgnc_id": 2389,
"gene_symbol": "CRYAB",
"hgvs_c": "c.343delT",
"hgvs_p": "p.Ser115fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528850.1",
"strand": false,
"transcript": "ENST00000858791.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 128,
"aa_ref": "S",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 695,
"cdna_start": 649,
"cds_end": null,
"cds_length": 389,
"cds_start": 343,
"consequences": [
"frameshift_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000529647.5",
"gene_hgnc_id": 2389,
"gene_symbol": "CRYAB",
"hgvs_c": "c.343delT",
"hgvs_p": "p.Ser115fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431754.1",
"strand": false,
"transcript": "ENST00000529647.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 108,
"aa_ref": "S",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 554,
"cdna_start": 225,
"cds_end": null,
"cds_length": 327,
"cds_start": 142,
"consequences": [
"frameshift_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001330379.1",
"gene_hgnc_id": 2389,
"gene_symbol": "CRYAB",
"hgvs_c": "c.142delT",
"hgvs_p": "p.Ser48fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317308.1",
"strand": false,
"transcript": "NM_001330379.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 108,
"aa_ref": "S",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 817,
"cdna_start": 432,
"cds_end": null,
"cds_length": 327,
"cds_start": 142,
"consequences": [
"frameshift_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001368246.1",
"gene_hgnc_id": 2389,
"gene_symbol": "CRYAB",
"hgvs_c": "c.142delT",
"hgvs_p": "p.Ser48fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001355175.1",
"strand": false,
"transcript": "NM_001368246.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 108,
"aa_ref": "S",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 915,
"cdna_start": 586,
"cds_end": null,
"cds_length": 327,
"cds_start": 142,
"consequences": [
"frameshift_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000525823.1",
"gene_hgnc_id": 2389,
"gene_symbol": "CRYAB",
"hgvs_c": "c.142delT",
"hgvs_p": "p.Ser48fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435411.1",
"strand": false,
"transcript": "ENST00000525823.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 108,
"aa_ref": "S",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 540,
"cdna_start": 218,
"cds_end": null,
"cds_length": 327,
"cds_start": 142,
"consequences": [
"frameshift_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000528961.6",
"gene_hgnc_id": 2389,
"gene_symbol": "CRYAB",
"hgvs_c": "c.142delT",
"hgvs_p": "p.Ser48fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435960.1",
"strand": false,
"transcript": "ENST00000528961.6",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 108,
"aa_ref": "S",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 589,
"cdna_start": 268,
"cds_end": null,
"cds_length": 327,
"cds_start": 142,
"consequences": [
"frameshift_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000533280.6",
"gene_hgnc_id": 2389,
"gene_symbol": "CRYAB",
"hgvs_c": "c.142delT",
"hgvs_p": "p.Ser48fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435046.1",
"strand": false,
"transcript": "ENST00000533280.6",
"transcript_support_level": 2
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]
}