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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: 15-78111171-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=78111171&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 78111171,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_006383.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIB2",
"gene_hgnc_id": 24579,
"hgvs_c": "c.192G>C",
"hgvs_p": "p.Glu64Asp",
"transcript": "NM_006383.4",
"protein_id": "NP_006374.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 187,
"cds_start": 192,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000258930.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006383.4"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIB2",
"gene_hgnc_id": 24579,
"hgvs_c": "c.192G>C",
"hgvs_p": "p.Glu64Asp",
"transcript": "ENST00000258930.8",
"protein_id": "ENSP00000258930.3",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 187,
"cds_start": 192,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006383.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258930.8"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIB2",
"gene_hgnc_id": 24579,
"hgvs_c": "c.63G>C",
"hgvs_p": "p.Glu21Asp",
"transcript": "ENST00000539011.5",
"protein_id": "ENSP00000442459.1",
"transcript_support_level": 1,
"aa_start": 21,
"aa_end": null,
"aa_length": 144,
"cds_start": 63,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539011.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIB2",
"gene_hgnc_id": 24579,
"hgvs_c": "c.192G>C",
"hgvs_p": "p.Glu64Asp",
"transcript": "ENST00000958911.1",
"protein_id": "ENSP00000628970.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 186,
"cds_start": 192,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958911.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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.63G>C",
"hgvs_p": "p.Glu21Asp",
"transcript": "ENST00000560618.5",
"protein_id": "ENSP00000452752.1",
"transcript_support_level": 2,
"aa_start": 21,
"aa_end": null,
"aa_length": 167,
"cds_start": 63,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000560618.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIB2",
"gene_hgnc_id": 24579,
"hgvs_c": "c.63G>C",
"hgvs_p": "p.Glu21Asp",
"transcript": "NM_001271888.2",
"protein_id": "NP_001258817.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 144,
"cds_start": 63,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271888.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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.192G>C",
"hgvs_p": "p.Glu64Asp",
"transcript": "ENST00000561190.5",
"protein_id": "ENSP00000453256.1",
"transcript_support_level": 3,
"aa_start": 64,
"aa_end": null,
"aa_length": 125,
"cds_start": 192,
"cds_end": null,
"cds_length": 380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000561190.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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.63G>C",
"hgvs_p": "p.Glu21Asp",
"transcript": "ENST00000559054.1",
"protein_id": "ENSP00000453377.1",
"transcript_support_level": 2,
"aa_start": 21,
"aa_end": null,
"aa_length": 53,
"cds_start": 63,
"cds_end": null,
"cds_length": 164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559054.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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.192G>C",
"hgvs_p": "p.Glu64Asp",
"transcript": "XM_005254126.4",
"protein_id": "XP_005254183.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 210,
"cds_start": 192,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005254126.4"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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.63G>C",
"hgvs_p": "p.Glu21Asp",
"transcript": "XM_011521161.2",
"protein_id": "XP_011519463.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 167,
"cds_start": 63,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521161.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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.192G>C",
"hgvs_p": "p.Glu64Asp",
"transcript": "XM_047432110.1",
"protein_id": "XP_047288066.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 100,
"cds_start": 192,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432110.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CIB2",
"gene_hgnc_id": 24579,
"hgvs_c": "c.87-1662G>C",
"hgvs_p": null,
"transcript": "NM_001301224.2",
"protein_id": "NP_001288153.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 192,
"cds_start": null,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301224.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CIB2",
"gene_hgnc_id": 24579,
"hgvs_c": "c.87-1662G>C",
"hgvs_p": null,
"transcript": "ENST00000935334.1",
"protein_id": "ENSP00000605393.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 158,
"cds_start": null,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935334.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CIB2",
"gene_hgnc_id": 24579,
"hgvs_c": "c.87-1662G>C",
"hgvs_p": null,
"transcript": "ENST00000559645.1",
"protein_id": "ENSP00000452980.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 146,
"cds_start": null,
"cds_end": null,
"cds_length": 442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559645.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CIB2",
"gene_hgnc_id": 24579,
"hgvs_c": "c.52-1789G>C",
"hgvs_p": null,
"transcript": "NM_001271889.2",
"protein_id": "NP_001258818.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 138,
"cds_start": null,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271889.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CIB2",
"gene_hgnc_id": 24579,
"hgvs_c": "c.52-1789G>C",
"hgvs_p": null,
"transcript": "ENST00000557846.5",
"protein_id": "ENSP00000453488.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 138,
"cds_start": null,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557846.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIB2",
"gene_hgnc_id": 24579,
"hgvs_c": "n.96G>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": 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": "ENST00000557818.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIB2",
"gene_hgnc_id": 24579,
"hgvs_c": "n.81G>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": 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": "ENST00000643268.1"
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CIB2",
"gene_hgnc_id": 24579,
"hgvs_c": "n.87-1789G>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": 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": "ENST00000557917.5"
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CIB2",
"gene_hgnc_id": 24579,
"hgvs_c": "n.407-1789G>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": 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_125435.2"
}
],
"gene_symbol": "CIB2",
"gene_hgnc_id": 24579,
"dbsnp": "rs145415848",
"frequency_reference_population": 6.841574e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84157e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.657209038734436,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.398,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9868,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.18,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.682,
"phylop100way_prediction": "Benign",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP5",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006383.4",
"gene_symbol": "CIB2",
"hgnc_id": 24579,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.192G>C",
"hgvs_p": "p.Glu64Asp"
}
],
"clinvar_disease": "Usher syndrome type 1,Usher syndrome type 1J",
"clinvar_classification": "not provided",
"clinvar_review_status": "no classification provided",
"clinvar_submissions_summary": "P:1 O:2",
"phenotype_combined": "Usher syndrome type 1J|Usher syndrome type 1",
"pathogenicity_classification_combined": "not provided",
"custom_annotations": null
}
],
"message": null
}