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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: 16-29861239-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=29861239&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 29861239,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006319.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"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": "CDIPT",
"gene_hgnc_id": 1769,
"hgvs_c": "c.199C>G",
"hgvs_p": "p.Leu67Val",
"transcript": "NM_006319.5",
"protein_id": "NP_006310.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 213,
"cds_start": 199,
"cds_end": null,
"cds_length": 642,
"cdna_start": 568,
"cdna_end": null,
"cdna_length": 1843,
"mane_select": "ENST00000219789.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006319.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "CDIPT",
"gene_hgnc_id": 1769,
"hgvs_c": "c.199C>G",
"hgvs_p": "p.Leu67Val",
"transcript": "ENST00000219789.11",
"protein_id": "ENSP00000219789.6",
"transcript_support_level": 1,
"aa_start": 67,
"aa_end": null,
"aa_length": 213,
"cds_start": 199,
"cds_end": null,
"cds_length": 642,
"cdna_start": 568,
"cdna_end": null,
"cdna_length": 1843,
"mane_select": "NM_006319.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000219789.11"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "CDIPT",
"gene_hgnc_id": 1769,
"hgvs_c": "c.331C>G",
"hgvs_p": "p.Leu111Val",
"transcript": "ENST00000934102.1",
"protein_id": "ENSP00000604161.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 257,
"cds_start": 331,
"cds_end": null,
"cds_length": 774,
"cdna_start": 580,
"cdna_end": null,
"cdna_length": 1853,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934102.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIPT",
"gene_hgnc_id": 1769,
"hgvs_c": "c.271C>G",
"hgvs_p": "p.Leu91Val",
"transcript": "ENST00000561555.5",
"protein_id": "ENSP00000455042.1",
"transcript_support_level": 2,
"aa_start": 91,
"aa_end": null,
"aa_length": 237,
"cds_start": 271,
"cds_end": null,
"cds_length": 714,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 1726,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000561555.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIPT",
"gene_hgnc_id": 1769,
"hgvs_c": "c.199C>G",
"hgvs_p": "p.Leu67Val",
"transcript": "ENST00000569956.5",
"protein_id": "ENSP00000457339.1",
"transcript_support_level": 5,
"aa_start": 67,
"aa_end": null,
"aa_length": 213,
"cds_start": 199,
"cds_end": null,
"cds_length": 642,
"cdna_start": 285,
"cdna_end": null,
"cdna_length": 1532,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000569956.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIPT",
"gene_hgnc_id": 1769,
"hgvs_c": "c.199C>G",
"hgvs_p": "p.Leu67Val",
"transcript": "ENST00000570016.5",
"protein_id": "ENSP00000454453.1",
"transcript_support_level": 5,
"aa_start": 67,
"aa_end": null,
"aa_length": 213,
"cds_start": 199,
"cds_end": null,
"cds_length": 642,
"cdna_start": 442,
"cdna_end": null,
"cdna_length": 1346,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000570016.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIPT",
"gene_hgnc_id": 1769,
"hgvs_c": "c.199C>G",
"hgvs_p": "p.Leu67Val",
"transcript": "ENST00000853345.1",
"protein_id": "ENSP00000523404.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 213,
"cds_start": 199,
"cds_end": null,
"cds_length": 642,
"cdna_start": 581,
"cdna_end": null,
"cdna_length": 1851,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853345.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "CDIPT",
"gene_hgnc_id": 1769,
"hgvs_c": "c.64C>G",
"hgvs_p": "p.Leu22Val",
"transcript": "NM_001286585.2",
"protein_id": "NP_001273514.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 168,
"cds_start": 64,
"cds_end": null,
"cds_length": 507,
"cdna_start": 433,
"cdna_end": null,
"cdna_length": 1708,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286585.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "CDIPT",
"gene_hgnc_id": 1769,
"hgvs_c": "c.64C>G",
"hgvs_p": "p.Leu22Val",
"transcript": "ENST00000566113.5",
"protein_id": "ENSP00000457340.1",
"transcript_support_level": 2,
"aa_start": 22,
"aa_end": null,
"aa_length": 168,
"cds_start": 64,
"cds_end": null,
"cds_length": 507,
"cdna_start": 411,
"cdna_end": null,
"cdna_length": 1671,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566113.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "CDIPT",
"gene_hgnc_id": 1769,
"hgvs_c": "c.199C>G",
"hgvs_p": "p.Leu67Val",
"transcript": "ENST00000563415.1",
"protein_id": "ENSP00000457766.1",
"transcript_support_level": 3,
"aa_start": 67,
"aa_end": null,
"aa_length": 157,
"cds_start": 199,
"cds_end": null,
"cds_length": 474,
"cdna_start": 232,
"cdna_end": null,
"cdna_length": 1047,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000563415.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "CDIPT",
"gene_hgnc_id": 1769,
"hgvs_c": "c.4C>G",
"hgvs_p": "p.Leu2Val",
"transcript": "NM_001286586.2",
"protein_id": "NP_001273515.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 148,
"cds_start": 4,
"cds_end": null,
"cds_length": 447,
"cdna_start": 483,
"cdna_end": null,
"cdna_length": 1758,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286586.2"
},
{
"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": "CDIPT",
"gene_hgnc_id": 1769,
"hgvs_c": "n.850C>G",
"hgvs_p": null,
"transcript": "ENST00000562041.1",
"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": 1129,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000562041.1"
},
{
"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": "CDIPT",
"gene_hgnc_id": 1769,
"hgvs_c": "n.536C>G",
"hgvs_p": null,
"transcript": "ENST00000563893.5",
"protein_id": null,
"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": 2253,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000563893.5"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIPT",
"gene_hgnc_id": 1769,
"hgvs_c": "n.114C>G",
"hgvs_p": null,
"transcript": "ENST00000564296.5",
"protein_id": "ENSP00000457207.1",
"transcript_support_level": 2,
"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": 1015,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000564296.5"
}
],
"gene_symbol": "CDIPT",
"gene_hgnc_id": 1769,
"dbsnp": null,
"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": 0.8712117671966553,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.447,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8599,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.25,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.927,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006319.5",
"gene_symbol": "CDIPT",
"hgnc_id": 1769,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.199C>G",
"hgvs_p": "p.Leu67Val"
}
],
"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
}