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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: 12-38730333-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=38730333&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 38730333,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_153634.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE8",
"gene_hgnc_id": 23498,
"hgvs_c": "c.748A>G",
"hgvs_p": "p.Thr250Ala",
"transcript": "NM_153634.3",
"protein_id": "NP_705898.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 564,
"cds_start": 748,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000331366.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153634.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE8",
"gene_hgnc_id": 23498,
"hgvs_c": "c.748A>G",
"hgvs_p": "p.Thr250Ala",
"transcript": "ENST00000331366.10",
"protein_id": "ENSP00000329748.5",
"transcript_support_level": 1,
"aa_start": 250,
"aa_end": null,
"aa_length": 564,
"cds_start": 748,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_153634.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000331366.10"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE8",
"gene_hgnc_id": 23498,
"hgvs_c": "c.712A>G",
"hgvs_p": "p.Thr238Ala",
"transcript": "ENST00000360449.3",
"protein_id": "ENSP00000353633.3",
"transcript_support_level": 2,
"aa_start": 238,
"aa_end": null,
"aa_length": 552,
"cds_start": 712,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360449.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE8",
"gene_hgnc_id": 23498,
"hgvs_c": "c.748A>G",
"hgvs_p": "p.Thr250Ala",
"transcript": "ENST00000862791.1",
"protein_id": "ENSP00000532850.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 532,
"cds_start": 748,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862791.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE8",
"gene_hgnc_id": 23498,
"hgvs_c": "c.748A>G",
"hgvs_p": "p.Thr250Ala",
"transcript": "XM_047428345.1",
"protein_id": "XP_047284301.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 406,
"cds_start": 748,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428345.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE8",
"gene_hgnc_id": 23498,
"hgvs_c": "c.265A>G",
"hgvs_p": "p.Thr89Ala",
"transcript": "XM_017018852.2",
"protein_id": "XP_016874341.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 403,
"cds_start": 265,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018852.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE8",
"gene_hgnc_id": 23498,
"hgvs_c": "c.748A>G",
"hgvs_p": "p.Thr250Ala",
"transcript": "XM_011537951.4",
"protein_id": "XP_011536253.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 398,
"cds_start": 748,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537951.4"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE8",
"gene_hgnc_id": 23498,
"hgvs_c": "c.748A>G",
"hgvs_p": "p.Thr250Ala",
"transcript": "XM_011537952.4",
"protein_id": "XP_011536254.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 325,
"cds_start": 748,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537952.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE8",
"gene_hgnc_id": 23498,
"hgvs_c": "n.256A>G",
"hgvs_p": null,
"transcript": "ENST00000551855.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000551855.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE8",
"gene_hgnc_id": 23498,
"hgvs_c": "n.805A>G",
"hgvs_p": null,
"transcript": "XR_007063052.1",
"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": "XR_007063052.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE8",
"gene_hgnc_id": 23498,
"hgvs_c": "n.805A>G",
"hgvs_p": null,
"transcript": "XR_245896.5",
"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": "XR_245896.5"
}
],
"gene_symbol": "CPNE8",
"gene_hgnc_id": 23498,
"dbsnp": "rs759948695",
"frequency_reference_population": 0.000027023956,
"hom_count_reference_population": 0,
"allele_count_reference_population": 39,
"gnomad_exomes_af": 0.000027024,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 39,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7237310409545898,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.243,
"revel_prediction": "Benign",
"alphamissense_score": 0.1503,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.478,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": "NM_153634.3",
"gene_symbol": "CPNE8",
"hgnc_id": 23498,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.748A>G",
"hgvs_p": "p.Thr250Ala"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}