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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: 11-65210073-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=65210073&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 65210073,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000279247.11",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN1",
"gene_hgnc_id": 1476,
"hgvs_c": "c.1919T>G",
"hgvs_p": "p.Met640Arg",
"transcript": "NM_005186.4",
"protein_id": "NP_005177.2",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 714,
"cds_start": 1919,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 2006,
"cdna_end": null,
"cdna_length": 2952,
"mane_select": "ENST00000279247.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN1",
"gene_hgnc_id": 1476,
"hgvs_c": "c.1919T>G",
"hgvs_p": "p.Met640Arg",
"transcript": "ENST00000279247.11",
"protein_id": "ENSP00000279247.7",
"transcript_support_level": 1,
"aa_start": 640,
"aa_end": null,
"aa_length": 714,
"cds_start": 1919,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 2006,
"cdna_end": null,
"cdna_length": 2952,
"mane_select": "NM_005186.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN1",
"gene_hgnc_id": 1476,
"hgvs_c": "c.1919T>G",
"hgvs_p": "p.Met640Arg",
"transcript": "ENST00000524773.5",
"protein_id": "ENSP00000434176.1",
"transcript_support_level": 1,
"aa_start": 640,
"aa_end": null,
"aa_length": 714,
"cds_start": 1919,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 2019,
"cdna_end": null,
"cdna_length": 2960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN1",
"gene_hgnc_id": 1476,
"hgvs_c": "c.1919T>G",
"hgvs_p": "p.Met640Arg",
"transcript": "ENST00000527323.5",
"protein_id": "ENSP00000431984.1",
"transcript_support_level": 1,
"aa_start": 640,
"aa_end": null,
"aa_length": 714,
"cds_start": 1919,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 2159,
"cdna_end": null,
"cdna_length": 3086,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN1",
"gene_hgnc_id": 1476,
"hgvs_c": "c.1919T>G",
"hgvs_p": "p.Met640Arg",
"transcript": "ENST00000533820.5",
"protein_id": "ENSP00000435272.1",
"transcript_support_level": 1,
"aa_start": 640,
"aa_end": null,
"aa_length": 714,
"cds_start": 1919,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 2137,
"cdna_end": null,
"cdna_length": 3083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN1",
"gene_hgnc_id": 1476,
"hgvs_c": "c.1919T>G",
"hgvs_p": "p.Met640Arg",
"transcript": "NM_001198868.2",
"protein_id": "NP_001185797.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 714,
"cds_start": 1919,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 1958,
"cdna_end": null,
"cdna_length": 2904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN1",
"gene_hgnc_id": 1476,
"hgvs_c": "c.1919T>G",
"hgvs_p": "p.Met640Arg",
"transcript": "NM_001198869.2",
"protein_id": "NP_001185798.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 714,
"cds_start": 1919,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 1970,
"cdna_end": null,
"cdna_length": 2916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN1",
"gene_hgnc_id": 1476,
"hgvs_c": "c.1919T>G",
"hgvs_p": "p.Met640Arg",
"transcript": "ENST00000533129.5",
"protein_id": "ENSP00000431686.1",
"transcript_support_level": 5,
"aa_start": 640,
"aa_end": null,
"aa_length": 714,
"cds_start": 1919,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 1994,
"cdna_end": null,
"cdna_length": 2792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN1",
"gene_hgnc_id": 1476,
"hgvs_c": "c.1919T>G",
"hgvs_p": "p.Met640Arg",
"transcript": "XM_006718698.3",
"protein_id": "XP_006718761.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 714,
"cds_start": 1919,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 2330,
"cdna_end": null,
"cdna_length": 3276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN1",
"gene_hgnc_id": 1476,
"hgvs_c": "c.1919T>G",
"hgvs_p": "p.Met640Arg",
"transcript": "XM_011545292.2",
"protein_id": "XP_011543594.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 714,
"cds_start": 1919,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 2010,
"cdna_end": null,
"cdna_length": 2956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN1",
"gene_hgnc_id": 1476,
"hgvs_c": "n.1496T>G",
"hgvs_p": null,
"transcript": "ENST00000528165.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 2828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN1",
"gene_hgnc_id": 1476,
"hgvs_c": "n.469T>G",
"hgvs_p": null,
"transcript": "ENST00000530567.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 1415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "CAPN1",
"gene_hgnc_id": 1476,
"hgvs_c": "n.563T>G",
"hgvs_p": null,
"transcript": "ENST00000533704.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 643,
"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": "ENSG00000301154",
"gene_hgnc_id": null,
"hgvs_c": "n.307A>C",
"hgvs_p": null,
"transcript": "ENST00000776665.1",
"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": 850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN1",
"gene_hgnc_id": 1476,
"hgvs_c": "n.1936T>G",
"hgvs_p": null,
"transcript": "NR_040008.2",
"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": 2882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000301154",
"gene_hgnc_id": null,
"hgvs_c": "n.175-9A>C",
"hgvs_p": null,
"transcript": "ENST00000776666.1",
"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": 709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CAPN1",
"gene_hgnc_id": 1476,
"dbsnp": "rs752166957",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9489176273345947,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.756,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.994,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.28,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.882,
"phylop100way_prediction": "Pathogenic",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000279247.11",
"gene_symbol": "CAPN1",
"hgnc_id": 1476,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1919T>G",
"hgvs_p": "p.Met640Arg"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000776665.1",
"gene_symbol": "ENSG00000301154",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.307A>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}