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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: 2-173366363-AG-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=173366363&ref=AG&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 173366363,
"ref": "AG",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "ENST00000306721.8",
"consequences": [
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDCA7",
"gene_hgnc_id": 14628,
"hgvs_c": "c.1118delG",
"hgvs_p": "p.Gly373fs",
"transcript": "NM_031942.5",
"protein_id": "NP_114148.3",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 450,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 1210,
"cdna_end": null,
"cdna_length": 2778,
"mane_select": "ENST00000306721.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDCA7",
"gene_hgnc_id": 14628,
"hgvs_c": "c.1118delG",
"hgvs_p": "p.Gly373fs",
"transcript": "ENST00000306721.8",
"protein_id": "ENSP00000306968.3",
"transcript_support_level": 2,
"aa_start": 373,
"aa_end": null,
"aa_length": 450,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 1210,
"cdna_end": null,
"cdna_length": 2778,
"mane_select": "NM_031942.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDCA7",
"gene_hgnc_id": 14628,
"hgvs_c": "c.881delG",
"hgvs_p": "p.Gly294fs",
"transcript": "ENST00000347703.7",
"protein_id": "ENSP00000272789.4",
"transcript_support_level": 1,
"aa_start": 294,
"aa_end": null,
"aa_length": 371,
"cds_start": 881,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 1025,
"cdna_end": null,
"cdna_length": 2500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CDCA7",
"gene_hgnc_id": 14628,
"hgvs_c": "n.1768+773delG",
"hgvs_p": null,
"transcript": "ENST00000467411.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 3176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDCA7",
"gene_hgnc_id": 14628,
"hgvs_c": "c.1115delG",
"hgvs_p": "p.Gly372fs",
"transcript": "ENST00000695912.1",
"protein_id": "ENSP00000512263.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 449,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 1239,
"cdna_end": null,
"cdna_length": 2735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDCA7",
"gene_hgnc_id": 14628,
"hgvs_c": "c.986delG",
"hgvs_p": "p.Gly329fs",
"transcript": "ENST00000410101.7",
"protein_id": "ENSP00000386656.3",
"transcript_support_level": 2,
"aa_start": 329,
"aa_end": null,
"aa_length": 406,
"cds_start": 986,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 1078,
"cdna_end": null,
"cdna_length": 1369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDCA7",
"gene_hgnc_id": 14628,
"hgvs_c": "c.881delG",
"hgvs_p": "p.Gly294fs",
"transcript": "NM_145810.3",
"protein_id": "NP_665809.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 371,
"cds_start": 881,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 973,
"cdna_end": null,
"cdna_length": 2541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDCA7",
"gene_hgnc_id": 14628,
"hgvs_c": "c.878delG",
"hgvs_p": "p.Gly293fs",
"transcript": "ENST00000695914.1",
"protein_id": "ENSP00000512265.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 370,
"cds_start": 878,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 1261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDCA7",
"gene_hgnc_id": 14628,
"hgvs_c": "c.755delG",
"hgvs_p": "p.Gly252fs",
"transcript": "ENST00000410019.3",
"protein_id": "ENSP00000386833.3",
"transcript_support_level": 2,
"aa_start": 252,
"aa_end": null,
"aa_length": 329,
"cds_start": 755,
"cds_end": null,
"cds_length": 990,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 1488,
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDCA7",
"gene_hgnc_id": 14628,
"hgvs_c": "n.1872delG",
"hgvs_p": null,
"transcript": "ENST00000496441.5",
"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": 2943,
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDCA7",
"gene_hgnc_id": 14628,
"hgvs_c": "n.*548delG",
"hgvs_p": null,
"transcript": "ENST00000695911.1",
"protein_id": "ENSP00000512262.1",
"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": 2375,
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDCA7",
"gene_hgnc_id": 14628,
"hgvs_c": "n.*1871delG",
"hgvs_p": null,
"transcript": "ENST00000695913.1",
"protein_id": "ENSP00000512264.1",
"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": 3938,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDCA7",
"gene_hgnc_id": 14628,
"hgvs_c": "n.346delG",
"hgvs_p": null,
"transcript": "ENST00000695918.1",
"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": 1842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDCA7",
"gene_hgnc_id": 14628,
"hgvs_c": "n.*548delG",
"hgvs_p": null,
"transcript": "ENST00000695911.1",
"protein_id": "ENSP00000512262.1",
"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": 2375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDCA7",
"gene_hgnc_id": 14628,
"hgvs_c": "n.*1871delG",
"hgvs_p": null,
"transcript": "ENST00000695913.1",
"protein_id": "ENSP00000512264.1",
"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": 3938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CDCA7",
"gene_hgnc_id": 14628,
"hgvs_c": "c.798+773delG",
"hgvs_p": null,
"transcript": "ENST00000695901.1",
"protein_id": "ENSP00000512251.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 321,
"cds_start": -4,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CDCA7",
"gene_hgnc_id": 14628,
"dbsnp": "rs876657409",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 9.996,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000306721.8",
"gene_symbol": "CDCA7",
"hgnc_id": 14628,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1118delG",
"hgvs_p": "p.Gly373fs"
}
],
"clinvar_disease": "Immunodeficiency-centromeric instability-facial anomalies syndrome 3",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Immunodeficiency-centromeric instability-facial anomalies syndrome 3",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}