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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: 1-223766378-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=223766378&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 223766378,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001748.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN2",
"gene_hgnc_id": 1479,
"hgvs_c": "c.1702A>C",
"hgvs_p": "p.Lys568Gln",
"transcript": "NM_001748.5",
"protein_id": "NP_001739.3",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 700,
"cds_start": 1702,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000295006.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001748.5"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN2",
"gene_hgnc_id": 1479,
"hgvs_c": "c.1702A>C",
"hgvs_p": "p.Lys568Gln",
"transcript": "ENST00000295006.6",
"protein_id": "ENSP00000295006.5",
"transcript_support_level": 1,
"aa_start": 568,
"aa_end": null,
"aa_length": 700,
"cds_start": 1702,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001748.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295006.6"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN2",
"gene_hgnc_id": 1479,
"hgvs_c": "c.1726A>C",
"hgvs_p": "p.Lys576Gln",
"transcript": "ENST00000946743.1",
"protein_id": "ENSP00000616802.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 708,
"cds_start": 1726,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946743.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN2",
"gene_hgnc_id": 1479,
"hgvs_c": "c.1723A>C",
"hgvs_p": "p.Lys575Gln",
"transcript": "ENST00000946744.1",
"protein_id": "ENSP00000616803.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 707,
"cds_start": 1723,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946744.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN2",
"gene_hgnc_id": 1479,
"hgvs_c": "c.1723A>C",
"hgvs_p": "p.Lys575Gln",
"transcript": "ENST00000946746.1",
"protein_id": "ENSP00000616805.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 707,
"cds_start": 1723,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946746.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN2",
"gene_hgnc_id": 1479,
"hgvs_c": "c.1699A>C",
"hgvs_p": "p.Lys567Gln",
"transcript": "ENST00000946745.1",
"protein_id": "ENSP00000616804.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 699,
"cds_start": 1699,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946745.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN2",
"gene_hgnc_id": 1479,
"hgvs_c": "c.1690A>C",
"hgvs_p": "p.Lys564Gln",
"transcript": "ENST00000860586.1",
"protein_id": "ENSP00000530645.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 696,
"cds_start": 1690,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860586.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN2",
"gene_hgnc_id": 1479,
"hgvs_c": "c.1726A>C",
"hgvs_p": "p.Lys576Gln",
"transcript": "ENST00000946747.1",
"protein_id": "ENSP00000616806.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 691,
"cds_start": 1726,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946747.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN2",
"gene_hgnc_id": 1479,
"hgvs_c": "c.1627A>C",
"hgvs_p": "p.Lys543Gln",
"transcript": "ENST00000946748.1",
"protein_id": "ENSP00000616807.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 675,
"cds_start": 1627,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946748.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN2",
"gene_hgnc_id": 1479,
"hgvs_c": "c.1618A>C",
"hgvs_p": "p.Lys540Gln",
"transcript": "ENST00000946749.1",
"protein_id": "ENSP00000616808.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 672,
"cds_start": 1618,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946749.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN2",
"gene_hgnc_id": 1479,
"hgvs_c": "c.1468A>C",
"hgvs_p": "p.Lys490Gln",
"transcript": "NM_001146068.2",
"protein_id": "NP_001139540.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 622,
"cds_start": 1468,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146068.2"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN2",
"gene_hgnc_id": 1479,
"hgvs_c": "c.1468A>C",
"hgvs_p": "p.Lys490Gln",
"transcript": "ENST00000433674.6",
"protein_id": "ENSP00000413158.2",
"transcript_support_level": 2,
"aa_start": 490,
"aa_end": null,
"aa_length": 622,
"cds_start": 1468,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433674.6"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN2",
"gene_hgnc_id": 1479,
"hgvs_c": "c.1399A>C",
"hgvs_p": "p.Lys467Gln",
"transcript": "ENST00000946750.1",
"protein_id": "ENSP00000616809.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 599,
"cds_start": 1399,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946750.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN2",
"gene_hgnc_id": 1479,
"hgvs_c": "c.1198A>C",
"hgvs_p": "p.Lys400Gln",
"transcript": "ENST00000860587.1",
"protein_id": "ENSP00000530646.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 532,
"cds_start": 1198,
"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": "ENST00000860587.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN2",
"gene_hgnc_id": 1479,
"hgvs_c": "n.2031A>C",
"hgvs_p": null,
"transcript": "ENST00000474026.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000474026.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN2",
"gene_hgnc_id": 1479,
"hgvs_c": "n.1429A>C",
"hgvs_p": null,
"transcript": "ENST00000487223.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000487223.5"
}
],
"gene_symbol": "CAPN2",
"gene_hgnc_id": 1479,
"dbsnp": "rs17599",
"frequency_reference_population": 0.23511377,
"hom_count_reference_population": 45884,
"allele_count_reference_population": 378765,
"gnomad_exomes_af": 0.237528,
"gnomad_genomes_af": 0.211977,
"gnomad_exomes_ac": 346500,
"gnomad_genomes_ac": 32265,
"gnomad_exomes_homalt": 42204,
"gnomad_genomes_homalt": 3680,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0015718638896942139,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.143,
"revel_prediction": "Benign",
"alphamissense_score": 0.1848,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.147,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001748.5",
"gene_symbol": "CAPN2",
"hgnc_id": 1479,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1702A>C",
"hgvs_p": "p.Lys568Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}