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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: 15-48756370-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=48756370&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 48756370,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000380950.7",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP152",
"gene_hgnc_id": 29298,
"hgvs_c": "c.2878T>C",
"hgvs_p": "p.Trp960Arg",
"transcript": "NM_001194998.2",
"protein_id": "NP_001181927.1",
"transcript_support_level": null,
"aa_start": 960,
"aa_end": null,
"aa_length": 1710,
"cds_start": 2878,
"cds_end": null,
"cds_length": 5133,
"cdna_start": 2994,
"cdna_end": null,
"cdna_length": 5560,
"mane_select": "ENST00000380950.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP152",
"gene_hgnc_id": 29298,
"hgvs_c": "c.2878T>C",
"hgvs_p": "p.Trp960Arg",
"transcript": "ENST00000380950.7",
"protein_id": "ENSP00000370337.2",
"transcript_support_level": 1,
"aa_start": 960,
"aa_end": null,
"aa_length": 1710,
"cds_start": 2878,
"cds_end": null,
"cds_length": 5133,
"cdna_start": 2994,
"cdna_end": null,
"cdna_length": 5560,
"mane_select": "NM_001194998.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP152",
"gene_hgnc_id": 29298,
"hgvs_c": "c.2878T>C",
"hgvs_p": "p.Trp960Arg",
"transcript": "ENST00000399334.7",
"protein_id": "ENSP00000382271.3",
"transcript_support_level": 1,
"aa_start": 960,
"aa_end": null,
"aa_length": 1654,
"cds_start": 2878,
"cds_end": null,
"cds_length": 4965,
"cdna_start": 2912,
"cdna_end": null,
"cdna_length": 5097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP152",
"gene_hgnc_id": 29298,
"hgvs_c": "c.2599T>C",
"hgvs_p": "p.Trp867Arg",
"transcript": "ENST00000325747.9",
"protein_id": "ENSP00000321000.5",
"transcript_support_level": 1,
"aa_start": 867,
"aa_end": null,
"aa_length": 1275,
"cds_start": 2599,
"cds_end": null,
"cds_length": 3828,
"cdna_start": 2676,
"cdna_end": null,
"cdna_length": 4986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP152",
"gene_hgnc_id": 29298,
"hgvs_c": "c.2878T>C",
"hgvs_p": "p.Trp960Arg",
"transcript": "NM_014985.4",
"protein_id": "NP_055800.2",
"transcript_support_level": null,
"aa_start": 960,
"aa_end": null,
"aa_length": 1654,
"cds_start": 2878,
"cds_end": null,
"cds_length": 4965,
"cdna_start": 2994,
"cdna_end": null,
"cdna_length": 5392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP152",
"gene_hgnc_id": 29298,
"hgvs_c": "c.2878T>C",
"hgvs_p": "p.Trp960Arg",
"transcript": "XM_006720437.4",
"protein_id": "XP_006720500.1",
"transcript_support_level": null,
"aa_start": 960,
"aa_end": null,
"aa_length": 1710,
"cds_start": 2878,
"cds_end": null,
"cds_length": 5133,
"cdna_start": 3261,
"cdna_end": null,
"cdna_length": 5827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP152",
"gene_hgnc_id": 29298,
"hgvs_c": "c.2878T>C",
"hgvs_p": "p.Trp960Arg",
"transcript": "XM_011521373.4",
"protein_id": "XP_011519675.1",
"transcript_support_level": null,
"aa_start": 960,
"aa_end": null,
"aa_length": 1700,
"cds_start": 2878,
"cds_end": null,
"cds_length": 5103,
"cdna_start": 2994,
"cdna_end": null,
"cdna_length": 5530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP152",
"gene_hgnc_id": 29298,
"hgvs_c": "c.2878T>C",
"hgvs_p": "p.Trp960Arg",
"transcript": "XM_024449875.2",
"protein_id": "XP_024305643.1",
"transcript_support_level": null,
"aa_start": 960,
"aa_end": null,
"aa_length": 1644,
"cds_start": 2878,
"cds_end": null,
"cds_length": 4935,
"cdna_start": 2994,
"cdna_end": null,
"cdna_length": 5362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP152",
"gene_hgnc_id": 29298,
"hgvs_c": "c.2878T>C",
"hgvs_p": "p.Trp960Arg",
"transcript": "XM_011521374.4",
"protein_id": "XP_011519676.1",
"transcript_support_level": null,
"aa_start": 960,
"aa_end": null,
"aa_length": 1401,
"cds_start": 2878,
"cds_end": null,
"cds_length": 4206,
"cdna_start": 2994,
"cdna_end": null,
"cdna_length": 4442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP152",
"gene_hgnc_id": 29298,
"hgvs_c": "c.2878T>C",
"hgvs_p": "p.Trp960Arg",
"transcript": "XM_011521375.4",
"protein_id": "XP_011519677.1",
"transcript_support_level": null,
"aa_start": 960,
"aa_end": null,
"aa_length": 1397,
"cds_start": 2878,
"cds_end": null,
"cds_length": 4194,
"cdna_start": 2994,
"cdna_end": null,
"cdna_length": 11819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP152",
"gene_hgnc_id": 29298,
"hgvs_c": "c.2878T>C",
"hgvs_p": "p.Trp960Arg",
"transcript": "XM_047432252.1",
"protein_id": "XP_047288208.1",
"transcript_support_level": null,
"aa_start": 960,
"aa_end": null,
"aa_length": 1391,
"cds_start": 2878,
"cds_end": null,
"cds_length": 4176,
"cdna_start": 2994,
"cdna_end": null,
"cdna_length": 4412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP152",
"gene_hgnc_id": 29298,
"hgvs_c": "c.2878T>C",
"hgvs_p": "p.Trp960Arg",
"transcript": "XM_047432253.1",
"protein_id": "XP_047288209.1",
"transcript_support_level": null,
"aa_start": 960,
"aa_end": null,
"aa_length": 1345,
"cds_start": 2878,
"cds_end": null,
"cds_length": 4038,
"cdna_start": 2994,
"cdna_end": null,
"cdna_length": 4274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP152",
"gene_hgnc_id": 29298,
"hgvs_c": "c.2878T>C",
"hgvs_p": "p.Trp960Arg",
"transcript": "XM_011521379.4",
"protein_id": "XP_011519681.1",
"transcript_support_level": null,
"aa_start": 960,
"aa_end": null,
"aa_length": 1341,
"cds_start": 2878,
"cds_end": null,
"cds_length": 4026,
"cdna_start": 2994,
"cdna_end": null,
"cdna_length": 5456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP152",
"gene_hgnc_id": 29298,
"hgvs_c": "c.2878T>C",
"hgvs_p": "p.Trp960Arg",
"transcript": "XM_047432254.1",
"protein_id": "XP_047288210.1",
"transcript_support_level": null,
"aa_start": 960,
"aa_end": null,
"aa_length": 1335,
"cds_start": 2878,
"cds_end": null,
"cds_length": 4008,
"cdna_start": 2994,
"cdna_end": null,
"cdna_length": 4244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP152",
"gene_hgnc_id": 29298,
"hgvs_c": "c.913T>C",
"hgvs_p": "p.Trp305Arg",
"transcript": "XM_011521381.3",
"protein_id": "XP_011519683.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 1055,
"cds_start": 913,
"cds_end": null,
"cds_length": 3168,
"cdna_start": 1984,
"cdna_end": null,
"cdna_length": 4550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP152",
"gene_hgnc_id": 29298,
"hgvs_c": "c.913T>C",
"hgvs_p": "p.Trp305Arg",
"transcript": "XM_017022015.2",
"protein_id": "XP_016877504.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 1055,
"cds_start": 913,
"cds_end": null,
"cds_length": 3168,
"cdna_start": 1166,
"cdna_end": null,
"cdna_length": 3732,
"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": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP152",
"gene_hgnc_id": 29298,
"hgvs_c": "n.2994T>C",
"hgvs_p": null,
"transcript": "XR_931769.4",
"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": 4443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CEP152",
"gene_hgnc_id": 29298,
"dbsnp": "rs201342438",
"frequency_reference_population": 0.0036519875,
"hom_count_reference_population": 14,
"allele_count_reference_population": 5813,
"gnomad_exomes_af": 0.00376969,
"gnomad_genomes_af": 0.00253787,
"gnomad_exomes_ac": 5427,
"gnomad_genomes_ac": 386,
"gnomad_exomes_homalt": 13,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0482541024684906,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.415,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9852,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.705,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000380950.7",
"gene_symbol": "CEP152",
"hgnc_id": 29298,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2878T>C",
"hgvs_p": "p.Trp960Arg"
}
],
"clinvar_disease": " autosomal recessive, primary,CEP152-related disorder,Microcephaly 9,Seckel syndrome 5,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:6 LB:3",
"phenotype_combined": "Microcephaly 9, primary, autosomal recessive;Seckel syndrome 5|Microcephaly 9, primary, autosomal recessive|CEP152-related disorder|not provided|Seckel syndrome 5",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}