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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: 11-77115426-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=77115426&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 77115426,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001425321.1",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN5",
"gene_hgnc_id": 1482,
"hgvs_c": "c.731T>C",
"hgvs_p": "p.Leu244Pro",
"transcript": "NM_004055.5",
"protein_id": "NP_004046.2",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 640,
"cds_start": 731,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000648180.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004055.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN5",
"gene_hgnc_id": 1482,
"hgvs_c": "c.731T>C",
"hgvs_p": "p.Leu244Pro",
"transcript": "ENST00000648180.1",
"protein_id": "ENSP00000498132.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 640,
"cds_start": 731,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004055.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648180.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN5",
"gene_hgnc_id": 1482,
"hgvs_c": "c.731T>C",
"hgvs_p": "p.Leu244Pro",
"transcript": "ENST00000529629.5",
"protein_id": "ENSP00000432332.1",
"transcript_support_level": 1,
"aa_start": 244,
"aa_end": null,
"aa_length": 640,
"cds_start": 731,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529629.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN5",
"gene_hgnc_id": 1482,
"hgvs_c": "c.959T>C",
"hgvs_p": "p.Leu320Pro",
"transcript": "ENST00000886046.1",
"protein_id": "ENSP00000556105.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 714,
"cds_start": 959,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886046.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN5",
"gene_hgnc_id": 1482,
"hgvs_c": "c.851T>C",
"hgvs_p": "p.Leu284Pro",
"transcript": "NM_001425321.1",
"protein_id": "NP_001412250.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 680,
"cds_start": 851,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425321.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN5",
"gene_hgnc_id": 1482,
"hgvs_c": "c.851T>C",
"hgvs_p": "p.Leu284Pro",
"transcript": "ENST00000456580.6",
"protein_id": "ENSP00000409996.2",
"transcript_support_level": 2,
"aa_start": 284,
"aa_end": null,
"aa_length": 680,
"cds_start": 851,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456580.6"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN5",
"gene_hgnc_id": 1482,
"hgvs_c": "c.824T>C",
"hgvs_p": "p.Leu275Pro",
"transcript": "ENST00000930878.1",
"protein_id": "ENSP00000600937.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 671,
"cds_start": 824,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930878.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN5",
"gene_hgnc_id": 1482,
"hgvs_c": "c.731T>C",
"hgvs_p": "p.Leu244Pro",
"transcript": "NM_001425322.1",
"protein_id": "NP_001412251.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 640,
"cds_start": 731,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425322.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN5",
"gene_hgnc_id": 1482,
"hgvs_c": "c.731T>C",
"hgvs_p": "p.Leu244Pro",
"transcript": "ENST00000886047.1",
"protein_id": "ENSP00000556106.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 640,
"cds_start": 731,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886047.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN5",
"gene_hgnc_id": 1482,
"hgvs_c": "c.599T>C",
"hgvs_p": "p.Leu200Pro",
"transcript": "NM_001425323.1",
"protein_id": "NP_001412252.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 596,
"cds_start": 599,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425323.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN5",
"gene_hgnc_id": 1482,
"hgvs_c": "c.425T>C",
"hgvs_p": "p.Leu142Pro",
"transcript": "ENST00000648752.1",
"protein_id": "ENSP00000496931.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 512,
"cds_start": 425,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648752.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN5",
"gene_hgnc_id": 1482,
"hgvs_c": "c.851T>C",
"hgvs_p": "p.Leu284Pro",
"transcript": "XM_011545225.1",
"protein_id": "XP_011543527.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 680,
"cds_start": 851,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545225.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN5",
"gene_hgnc_id": 1482,
"hgvs_c": "c.839T>C",
"hgvs_p": "p.Leu280Pro",
"transcript": "XM_017018223.3",
"protein_id": "XP_016873712.3",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 676,
"cds_start": 839,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018223.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CAPN5",
"gene_hgnc_id": 1482,
"hgvs_c": "c.506+2629T>C",
"hgvs_p": null,
"transcript": "ENST00000886048.1",
"protein_id": "ENSP00000556107.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 313,
"cds_start": null,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886048.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN5",
"gene_hgnc_id": 1482,
"hgvs_c": "n.731T>C",
"hgvs_p": null,
"transcript": "ENST00000531028.2",
"protein_id": "ENSP00000467244.2",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000531028.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN5",
"gene_hgnc_id": 1482,
"hgvs_c": "n.890T>C",
"hgvs_p": null,
"transcript": "NR_189161.1",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_189161.1"
}
],
"gene_symbol": "CAPN5",
"gene_hgnc_id": 1482,
"dbsnp": "rs397514602",
"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": 0.8752759695053101,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.873,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9725,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.35,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.059,
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Moderate,PP5_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM1",
"PM2",
"PP3_Moderate",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001425321.1",
"gene_symbol": "CAPN5",
"hgnc_id": 1482,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.851T>C",
"hgvs_p": "p.Leu284Pro"
}
],
"clinvar_disease": "Proliferative vitreoretinopathy,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Proliferative vitreoretinopathy|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}