← Back to variant description
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: 1-26183819-AC-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=26183819&ref=AC&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 16,
"criteria": [
"BP6_Very_Strong",
"BA1"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "CNKSR1",
"hgnc_id": 19700,
"hgvs_c": "c.872delC",
"hgvs_p": "p.Pro291fs",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -16,
"transcript": "NM_001297647.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Very_Strong,BA1",
"acmg_score": -16,
"allele_count_reference_population": 74929,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "1",
"clinvar_classification": "Benign",
"clinvar_disease": "Usher syndrome type 2C,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 713,
"aa_ref": "P",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2535,
"cdna_start": 908,
"cds_end": null,
"cds_length": 2142,
"cds_start": 851,
"consequences": [
"frameshift_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_006314.3",
"gene_hgnc_id": 19700,
"gene_symbol": "CNKSR1",
"hgvs_c": "c.851delC",
"hgvs_p": "p.Pro284fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000361530.11",
"protein_coding": true,
"protein_id": "NP_006305.2",
"strand": true,
"transcript": "NM_006314.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 713,
"aa_ref": "P",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2535,
"cdna_start": 908,
"cds_end": null,
"cds_length": 2142,
"cds_start": 851,
"consequences": [
"frameshift_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000361530.11",
"gene_hgnc_id": 19700,
"gene_symbol": "CNKSR1",
"hgvs_c": "c.851delC",
"hgvs_p": "p.Pro284fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006314.3",
"protein_coding": true,
"protein_id": "ENSP00000354609.6",
"strand": true,
"transcript": "ENST00000361530.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 720,
"aa_ref": "P",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2538,
"cdna_start": 911,
"cds_end": null,
"cds_length": 2163,
"cds_start": 872,
"consequences": [
"frameshift_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000374253.9",
"gene_hgnc_id": 19700,
"gene_symbol": "CNKSR1",
"hgvs_c": "c.872delC",
"hgvs_p": "p.Pro291fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000363371.5",
"strand": true,
"transcript": "ENST00000374253.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 720,
"aa_ref": "P",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2556,
"cdna_start": 929,
"cds_end": null,
"cds_length": 2163,
"cds_start": 872,
"consequences": [
"frameshift_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001297647.2",
"gene_hgnc_id": 19700,
"gene_symbol": "CNKSR1",
"hgvs_c": "c.872delC",
"hgvs_p": "p.Pro291fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001284576.1",
"strand": true,
"transcript": "NM_001297647.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 704,
"aa_ref": "P",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2487,
"cdna_start": 908,
"cds_end": null,
"cds_length": 2115,
"cds_start": 872,
"consequences": [
"frameshift_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000878394.1",
"gene_hgnc_id": 19700,
"gene_symbol": "CNKSR1",
"hgvs_c": "c.872delC",
"hgvs_p": "p.Pro291fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548453.1",
"strand": true,
"transcript": "ENST00000878394.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 698,
"aa_ref": "P",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2452,
"cdna_start": 891,
"cds_end": null,
"cds_length": 2097,
"cds_start": 872,
"consequences": [
"frameshift_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000878395.1",
"gene_hgnc_id": 19700,
"gene_symbol": "CNKSR1",
"hgvs_c": "c.872delC",
"hgvs_p": "p.Pro291fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548454.1",
"strand": true,
"transcript": "ENST00000878395.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 697,
"aa_ref": "P",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2502,
"cdna_start": 923,
"cds_end": null,
"cds_length": 2094,
"cds_start": 851,
"consequences": [
"frameshift_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000878392.1",
"gene_hgnc_id": 19700,
"gene_symbol": "CNKSR1",
"hgvs_c": "c.851delC",
"hgvs_p": "p.Pro284fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548451.1",
"strand": true,
"transcript": "ENST00000878392.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 691,
"aa_ref": "P",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2468,
"cdna_start": 910,
"cds_end": null,
"cds_length": 2076,
"cds_start": 851,
"consequences": [
"frameshift_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000878393.1",
"gene_hgnc_id": 19700,
"gene_symbol": "CNKSR1",
"hgvs_c": "c.851delC",
"hgvs_p": "p.Pro284fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548452.1",
"strand": true,
"transcript": "ENST00000878393.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 455,
"aa_ref": "P",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2530,
"cdna_start": 903,
"cds_end": null,
"cds_length": 1368,
"cds_start": 77,
"consequences": [
"frameshift_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001297648.2",
"gene_hgnc_id": 19700,
"gene_symbol": "CNKSR1",
"hgvs_c": "c.77delC",
"hgvs_p": "p.Pro26fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001284577.1",
"strand": true,
"transcript": "NM_001297648.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 455,
"aa_ref": "P",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2673,
"cdna_start": 1084,
"cds_end": null,
"cds_length": 1368,
"cds_start": 77,
"consequences": [
"frameshift_variant"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000531191.5",
"gene_hgnc_id": 19700,
"gene_symbol": "CNKSR1",
"hgvs_c": "c.77delC",
"hgvs_p": "p.Pro26fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431817.1",
"strand": true,
"transcript": "ENST00000531191.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2507,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000482227.5",
"gene_hgnc_id": 19700,
"gene_symbol": "CNKSR1",
"hgvs_c": "n.*156delC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000435880.1",
"strand": true,
"transcript": "ENST00000482227.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1200,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000525687.5",
"gene_hgnc_id": 19700,
"gene_symbol": "CNKSR1",
"hgvs_c": "n.851delC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000437038.1",
"strand": true,
"transcript": "ENST00000525687.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 553,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000528001.1",
"gene_hgnc_id": 19700,
"gene_symbol": "CNKSR1",
"hgvs_c": "n.395delC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000528001.1",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 842,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000528281.5",
"gene_hgnc_id": 19700,
"gene_symbol": "CNKSR1",
"hgvs_c": "n.218delC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000434047.1",
"strand": true,
"transcript": "ENST00000528281.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 581,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000531150.5",
"gene_hgnc_id": 19700,
"gene_symbol": "CNKSR1",
"hgvs_c": "n.452delC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000531150.5",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2507,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000482227.5",
"gene_hgnc_id": 19700,
"gene_symbol": "CNKSR1",
"hgvs_c": "n.*156delC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000435880.1",
"strand": true,
"transcript": "ENST00000482227.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 865,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000481077.6",
"gene_hgnc_id": 19700,
"gene_symbol": "CNKSR1",
"hgvs_c": "n.*634delC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000432057.1",
"strand": true,
"transcript": "ENST00000481077.6",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs781114848",
"effect": "frameshift_variant",
"frequency_reference_population": 0.05609222,
"gene_hgnc_id": 19700,
"gene_symbol": "CNKSR1",
"gnomad_exomes_ac": 70784,
"gnomad_exomes_af": 0.0582479,
"gnomad_exomes_homalt": 1957,
"gnomad_genomes_ac": 4145,
"gnomad_genomes_af": 0.0343704,
"gnomad_genomes_homalt": 101,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 2058,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not specified|Usher syndrome type 2C|not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.256,
"pos": 26183819,
"ref": "AC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001297647.2"
}
]
}