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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: 15-78109309-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=78109309&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 78109309,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000258930.8",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIB2",
"gene_hgnc_id": 24579,
"hgvs_c": "c.272T>C",
"hgvs_p": "p.Phe91Ser",
"transcript": "NM_006383.4",
"protein_id": "NP_006374.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 187,
"cds_start": 272,
"cds_end": null,
"cds_length": 564,
"cdna_start": 502,
"cdna_end": null,
"cdna_length": 1499,
"mane_select": "ENST00000258930.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIB2",
"gene_hgnc_id": 24579,
"hgvs_c": "c.272T>C",
"hgvs_p": "p.Phe91Ser",
"transcript": "ENST00000258930.8",
"protein_id": "ENSP00000258930.3",
"transcript_support_level": 1,
"aa_start": 91,
"aa_end": null,
"aa_length": 187,
"cds_start": 272,
"cds_end": null,
"cds_length": 564,
"cdna_start": 502,
"cdna_end": null,
"cdna_length": 1499,
"mane_select": "NM_006383.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIB2",
"gene_hgnc_id": 24579,
"hgvs_c": "c.143T>C",
"hgvs_p": "p.Phe48Ser",
"transcript": "ENST00000539011.5",
"protein_id": "ENSP00000442459.1",
"transcript_support_level": 1,
"aa_start": 48,
"aa_end": null,
"aa_length": 144,
"cds_start": 143,
"cds_end": null,
"cds_length": 435,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 1511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIB2",
"gene_hgnc_id": 24579,
"hgvs_c": "c.287T>C",
"hgvs_p": "p.Phe96Ser",
"transcript": "NM_001301224.2",
"protein_id": "NP_001288153.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 192,
"cds_start": 287,
"cds_end": null,
"cds_length": 579,
"cdna_start": 517,
"cdna_end": null,
"cdna_length": 1514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIB2",
"gene_hgnc_id": 24579,
"hgvs_c": "c.143T>C",
"hgvs_p": "p.Phe48Ser",
"transcript": "ENST00000560618.5",
"protein_id": "ENSP00000452752.1",
"transcript_support_level": 2,
"aa_start": 48,
"aa_end": null,
"aa_length": 167,
"cds_start": 143,
"cds_end": null,
"cds_length": 504,
"cdna_start": 285,
"cdna_end": null,
"cdna_length": 804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIB2",
"gene_hgnc_id": 24579,
"hgvs_c": "c.287T>C",
"hgvs_p": "p.Phe96Ser",
"transcript": "ENST00000559645.1",
"protein_id": "ENSP00000452980.1",
"transcript_support_level": 3,
"aa_start": 96,
"aa_end": null,
"aa_length": 146,
"cds_start": 287,
"cds_end": null,
"cds_length": 442,
"cdna_start": 307,
"cdna_end": null,
"cdna_length": 462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIB2",
"gene_hgnc_id": 24579,
"hgvs_c": "c.143T>C",
"hgvs_p": "p.Phe48Ser",
"transcript": "NM_001271888.2",
"protein_id": "NP_001258817.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 144,
"cds_start": 143,
"cds_end": null,
"cds_length": 435,
"cdna_start": 467,
"cdna_end": null,
"cdna_length": 1464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIB2",
"gene_hgnc_id": 24579,
"hgvs_c": "c.125T>C",
"hgvs_p": "p.Phe42Ser",
"transcript": "NM_001271889.2",
"protein_id": "NP_001258818.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 138,
"cds_start": 125,
"cds_end": null,
"cds_length": 417,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 1352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIB2",
"gene_hgnc_id": 24579,
"hgvs_c": "c.125T>C",
"hgvs_p": "p.Phe42Ser",
"transcript": "ENST00000557846.5",
"protein_id": "ENSP00000453488.1",
"transcript_support_level": 3,
"aa_start": 42,
"aa_end": null,
"aa_length": 138,
"cds_start": 125,
"cds_end": null,
"cds_length": 417,
"cdna_start": 343,
"cdna_end": null,
"cdna_length": 934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIB2",
"gene_hgnc_id": 24579,
"hgvs_c": "c.272T>C",
"hgvs_p": "p.Phe91Ser",
"transcript": "ENST00000561190.5",
"protein_id": "ENSP00000453256.1",
"transcript_support_level": 3,
"aa_start": 91,
"aa_end": null,
"aa_length": 125,
"cds_start": 272,
"cds_end": null,
"cds_length": 380,
"cdna_start": 282,
"cdna_end": null,
"cdna_length": 390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIB2",
"gene_hgnc_id": 24579,
"hgvs_c": "c.143T>C",
"hgvs_p": "p.Phe48Ser",
"transcript": "ENST00000559054.1",
"protein_id": "ENSP00000453377.1",
"transcript_support_level": 2,
"aa_start": 48,
"aa_end": null,
"aa_length": 53,
"cds_start": 143,
"cds_end": null,
"cds_length": 164,
"cdna_start": 422,
"cdna_end": null,
"cdna_length": 443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIB2",
"gene_hgnc_id": 24579,
"hgvs_c": "c.272T>C",
"hgvs_p": "p.Phe91Ser",
"transcript": "XM_005254126.4",
"protein_id": "XP_005254183.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 210,
"cds_start": 272,
"cds_end": null,
"cds_length": 633,
"cdna_start": 592,
"cdna_end": null,
"cdna_length": 1262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIB2",
"gene_hgnc_id": 24579,
"hgvs_c": "c.143T>C",
"hgvs_p": "p.Phe48Ser",
"transcript": "XM_011521161.2",
"protein_id": "XP_011519463.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 167,
"cds_start": 143,
"cds_end": null,
"cds_length": 504,
"cdna_start": 301,
"cdna_end": null,
"cdna_length": 971,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIB2",
"gene_hgnc_id": 24579,
"hgvs_c": "n.*107T>C",
"hgvs_p": null,
"transcript": "ENST00000557818.1",
"protein_id": "ENSP00000453654.1",
"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": 669,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIB2",
"gene_hgnc_id": 24579,
"hgvs_c": "n.160T>C",
"hgvs_p": null,
"transcript": "ENST00000557917.5",
"protein_id": "ENSP00000453963.1",
"transcript_support_level": 5,
"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": 535,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIB2",
"gene_hgnc_id": 24579,
"hgvs_c": "n.*96T>C",
"hgvs_p": null,
"transcript": "ENST00000643268.1",
"protein_id": "ENSP00000494155.1",
"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": 744,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIB2",
"gene_hgnc_id": 24579,
"hgvs_c": "n.480T>C",
"hgvs_p": null,
"transcript": "NR_125435.2",
"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": 1477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIB2",
"gene_hgnc_id": 24579,
"hgvs_c": "n.*107T>C",
"hgvs_p": null,
"transcript": "ENST00000557818.1",
"protein_id": "ENSP00000453654.1",
"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": 669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIB2",
"gene_hgnc_id": 24579,
"hgvs_c": "n.*96T>C",
"hgvs_p": null,
"transcript": "ENST00000643268.1",
"protein_id": "ENSP00000494155.1",
"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": 744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIB2",
"gene_hgnc_id": 24579,
"hgvs_c": "c.*96T>C",
"hgvs_p": null,
"transcript": "XM_047432110.1",
"protein_id": "XP_047288066.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 100,
"cds_start": -4,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CIB2",
"gene_hgnc_id": 24579,
"dbsnp": "rs397515411",
"frequency_reference_population": 0.0000136820245,
"hom_count_reference_population": 0,
"allele_count_reference_population": 20,
"gnomad_exomes_af": 0.000013682,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9300462603569031,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.73,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9981,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.4,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.131,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate,PP5_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PP3_Moderate",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000258930.8",
"gene_symbol": "CIB2",
"hgnc_id": 24579,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.272T>C",
"hgvs_p": "p.Phe91Ser"
}
],
"clinvar_disease": " autosomal recessive,Autosomal recessive nonsyndromic hearing loss 48,Hearing loss,Usher syndrome type 1J",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Autosomal recessive nonsyndromic hearing loss 48|Hearing loss, autosomal recessive|Usher syndrome type 1J;Autosomal recessive nonsyndromic hearing loss 48",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}