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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: 5-75674547-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=75674547&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 75674547,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001099271.2",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.1616A>G",
"hgvs_p": "p.Tyr539Cys",
"transcript": "NM_001099271.2",
"protein_id": "NP_001092741.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 575,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1762,
"cdna_end": null,
"cdna_length": 2185,
"mane_select": "ENST00000428202.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001099271.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.1616A>G",
"hgvs_p": "p.Tyr539Cys",
"transcript": "ENST00000428202.7",
"protein_id": "ENSP00000410216.2",
"transcript_support_level": 1,
"aa_start": 539,
"aa_end": null,
"aa_length": 575,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1762,
"cdna_end": null,
"cdna_length": 2185,
"mane_select": "NM_001099271.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428202.7"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.1541A>G",
"hgvs_p": "p.Tyr514Cys",
"transcript": "ENST00000446329.6",
"protein_id": "ENSP00000399481.2",
"transcript_support_level": 1,
"aa_start": 514,
"aa_end": null,
"aa_length": 550,
"cds_start": 1541,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1612,
"cdna_end": null,
"cdna_length": 1728,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446329.6"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.1736A>G",
"hgvs_p": "p.Tyr579Cys",
"transcript": "ENST00000930836.1",
"protein_id": "ENSP00000600895.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 615,
"cds_start": 1736,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1869,
"cdna_end": null,
"cdna_length": 2211,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930836.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.1616A>G",
"hgvs_p": "p.Tyr539Cys",
"transcript": "ENST00000930834.1",
"protein_id": "ENSP00000600893.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 575,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1825,
"cdna_end": null,
"cdna_length": 2174,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930834.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.1541A>G",
"hgvs_p": "p.Tyr514Cys",
"transcript": "NM_152408.3",
"protein_id": "NP_689621.2",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 550,
"cds_start": 1541,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1589,
"cdna_end": null,
"cdna_length": 2012,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152408.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.1532A>G",
"hgvs_p": "p.Tyr511Cys",
"transcript": "ENST00000514838.6",
"protein_id": "ENSP00000420971.1",
"transcript_support_level": 5,
"aa_start": 511,
"aa_end": null,
"aa_length": 547,
"cds_start": 1532,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 1639,
"cdna_end": null,
"cdna_length": 1984,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514838.6"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.1532A>G",
"hgvs_p": "p.Tyr511Cys",
"transcript": "ENST00000904656.1",
"protein_id": "ENSP00000574715.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 547,
"cds_start": 1532,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 1689,
"cdna_end": null,
"cdna_length": 2038,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904656.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.1511A>G",
"hgvs_p": "p.Tyr504Cys",
"transcript": "ENST00000904657.1",
"protein_id": "ENSP00000574716.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 540,
"cds_start": 1511,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1636,
"cdna_end": null,
"cdna_length": 1975,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904657.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.1088A>G",
"hgvs_p": "p.Tyr363Cys",
"transcript": "ENST00000510798.5",
"protein_id": "ENSP00000426796.1",
"transcript_support_level": 2,
"aa_start": 363,
"aa_end": null,
"aa_length": 399,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1408,
"cdna_end": null,
"cdna_length": 1524,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510798.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.794A>G",
"hgvs_p": "p.Tyr265Cys",
"transcript": "ENST00000930835.1",
"protein_id": "ENSP00000600894.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 301,
"cds_start": 794,
"cds_end": null,
"cds_length": 906,
"cdna_start": 933,
"cdna_end": null,
"cdna_length": 1271,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930835.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.1532A>G",
"hgvs_p": "p.Tyr511Cys",
"transcript": "XM_005248436.2",
"protein_id": "XP_005248493.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 547,
"cds_start": 1532,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 1678,
"cdna_end": null,
"cdna_length": 2101,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248436.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.1439A>G",
"hgvs_p": "p.Tyr480Cys",
"transcript": "XM_011543158.3",
"protein_id": "XP_011541460.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 516,
"cds_start": 1439,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1585,
"cdna_end": null,
"cdna_length": 2008,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543158.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.1355A>G",
"hgvs_p": "p.Tyr452Cys",
"transcript": "XM_047416725.1",
"protein_id": "XP_047272681.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 488,
"cds_start": 1355,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 1501,
"cdna_end": null,
"cdna_length": 1924,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416725.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.1265A>G",
"hgvs_p": "p.Tyr422Cys",
"transcript": "XM_011543160.2",
"protein_id": "XP_011541462.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 458,
"cds_start": 1265,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 1664,
"cdna_end": null,
"cdna_length": 2087,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543160.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.1265A>G",
"hgvs_p": "p.Tyr422Cys",
"transcript": "XM_047416726.1",
"protein_id": "XP_047272682.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 458,
"cds_start": 1265,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 1586,
"cdna_end": null,
"cdna_length": 2009,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416726.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.1265A>G",
"hgvs_p": "p.Tyr422Cys",
"transcript": "XM_047416727.1",
"protein_id": "XP_047272683.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 458,
"cds_start": 1265,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 1585,
"cdna_end": null,
"cdna_length": 2008,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416727.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "n.737-4161T>C",
"hgvs_p": null,
"transcript": "ENST00000672802.1",
"protein_id": "ENSP00000500285.1",
"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": 934,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000672802.1"
}
],
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"dbsnp": "rs550940695",
"frequency_reference_population": 0.000057001664,
"hom_count_reference_population": 2,
"allele_count_reference_population": 92,
"gnomad_exomes_af": 0.0000595223,
"gnomad_genomes_af": 0.0000328187,
"gnomad_exomes_ac": 87,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.23174723982810974,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.289,
"revel_prediction": "Benign",
"alphamissense_score": 0.8431,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.137,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001099271.2",
"gene_symbol": "POC5",
"hgnc_id": 26658,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1616A>G",
"hgvs_p": "p.Tyr539Cys"
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000672802.1",
"gene_symbol": "ANKDD1B",
"hgnc_id": 32525,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "n.737-4161T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}