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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: 11-592602-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=592602&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 592602,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000264555.10",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHRF1",
"gene_hgnc_id": 24351,
"hgvs_c": "c.548C>T",
"hgvs_p": "p.Pro183Leu",
"transcript": "NM_001286581.2",
"protein_id": "NP_001273510.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 1649,
"cds_start": 548,
"cds_end": null,
"cds_length": 4950,
"cdna_start": 692,
"cdna_end": null,
"cdna_length": 5539,
"mane_select": "ENST00000264555.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHRF1",
"gene_hgnc_id": 24351,
"hgvs_c": "c.548C>T",
"hgvs_p": "p.Pro183Leu",
"transcript": "ENST00000264555.10",
"protein_id": "ENSP00000264555.5",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 1649,
"cds_start": 548,
"cds_end": null,
"cds_length": 4950,
"cdna_start": 692,
"cdna_end": null,
"cdna_length": 5539,
"mane_select": "NM_001286581.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHRF1",
"gene_hgnc_id": 24351,
"hgvs_c": "c.548C>T",
"hgvs_p": "p.Pro183Leu",
"transcript": "ENST00000416188.3",
"protein_id": "ENSP00000410626.2",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 1648,
"cds_start": 548,
"cds_end": null,
"cds_length": 4947,
"cdna_start": 692,
"cdna_end": null,
"cdna_length": 5278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHRF1",
"gene_hgnc_id": 24351,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Pro182Leu",
"transcript": "ENST00000413872.6",
"protein_id": "ENSP00000388589.2",
"transcript_support_level": 1,
"aa_start": 182,
"aa_end": null,
"aa_length": 1647,
"cds_start": 545,
"cds_end": null,
"cds_length": 4944,
"cdna_start": 638,
"cdna_end": null,
"cdna_length": 5224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHRF1",
"gene_hgnc_id": 24351,
"hgvs_c": "c.536C>T",
"hgvs_p": "p.Pro179Leu",
"transcript": "ENST00000533464.5",
"protein_id": "ENSP00000431870.1",
"transcript_support_level": 1,
"aa_start": 179,
"aa_end": null,
"aa_length": 1645,
"cds_start": 536,
"cds_end": null,
"cds_length": 4938,
"cdna_start": 629,
"cdna_end": null,
"cdna_length": 5218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHRF1",
"gene_hgnc_id": 24351,
"hgvs_c": "c.548C>T",
"hgvs_p": "p.Pro183Leu",
"transcript": "NM_020901.4",
"protein_id": "NP_065952.2",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 1648,
"cds_start": 548,
"cds_end": null,
"cds_length": 4947,
"cdna_start": 692,
"cdna_end": null,
"cdna_length": 5536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHRF1",
"gene_hgnc_id": 24351,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Pro182Leu",
"transcript": "NM_001286582.2",
"protein_id": "NP_001273511.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 1647,
"cds_start": 545,
"cds_end": null,
"cds_length": 4944,
"cdna_start": 689,
"cdna_end": null,
"cdna_length": 5533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHRF1",
"gene_hgnc_id": 24351,
"hgvs_c": "c.536C>T",
"hgvs_p": "p.Pro179Leu",
"transcript": "NM_001286583.2",
"protein_id": "NP_001273512.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 1645,
"cds_start": 536,
"cds_end": null,
"cds_length": 4938,
"cdna_start": 680,
"cdna_end": null,
"cdna_length": 5527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHRF1",
"gene_hgnc_id": 24351,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Pro182Leu",
"transcript": "XM_005253025.6",
"protein_id": "XP_005253082.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 1648,
"cds_start": 545,
"cds_end": null,
"cds_length": 4947,
"cdna_start": 689,
"cdna_end": null,
"cdna_length": 5536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHRF1",
"gene_hgnc_id": 24351,
"hgvs_c": "c.548C>T",
"hgvs_p": "p.Pro183Leu",
"transcript": "XM_011520236.4",
"protein_id": "XP_011518538.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 1647,
"cds_start": 548,
"cds_end": null,
"cds_length": 4944,
"cdna_start": 692,
"cdna_end": null,
"cdna_length": 5533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHRF1",
"gene_hgnc_id": 24351,
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Pro180Leu",
"transcript": "XM_005253027.4",
"protein_id": "XP_005253084.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 1646,
"cds_start": 539,
"cds_end": null,
"cds_length": 4941,
"cdna_start": 683,
"cdna_end": null,
"cdna_length": 5530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHRF1",
"gene_hgnc_id": 24351,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Pro182Leu",
"transcript": "XM_047427342.1",
"protein_id": "XP_047283298.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 1646,
"cds_start": 545,
"cds_end": null,
"cds_length": 4941,
"cdna_start": 689,
"cdna_end": null,
"cdna_length": 5530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHRF1",
"gene_hgnc_id": 24351,
"hgvs_c": "c.548C>T",
"hgvs_p": "p.Pro183Leu",
"transcript": "XM_047427343.1",
"protein_id": "XP_047283299.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 1646,
"cds_start": 548,
"cds_end": null,
"cds_length": 4941,
"cdna_start": 692,
"cdna_end": null,
"cdna_length": 5530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHRF1",
"gene_hgnc_id": 24351,
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Pro180Leu",
"transcript": "XM_047427344.1",
"protein_id": "XP_047283300.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 1645,
"cds_start": 539,
"cds_end": null,
"cds_length": 4938,
"cdna_start": 683,
"cdna_end": null,
"cdna_length": 5527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHRF1",
"gene_hgnc_id": 24351,
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Pro180Leu",
"transcript": "XM_047427345.1",
"protein_id": "XP_047283301.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 1644,
"cds_start": 539,
"cds_end": null,
"cds_length": 4935,
"cdna_start": 683,
"cdna_end": null,
"cdna_length": 5524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHRF1",
"gene_hgnc_id": 24351,
"hgvs_c": "c.536C>T",
"hgvs_p": "p.Pro179Leu",
"transcript": "XM_047427346.1",
"protein_id": "XP_047283302.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 1643,
"cds_start": 536,
"cds_end": null,
"cds_length": 4932,
"cdna_start": 680,
"cdna_end": null,
"cdna_length": 5521,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHRF1",
"gene_hgnc_id": 24351,
"hgvs_c": "c.536C>T",
"hgvs_p": "p.Pro179Leu",
"transcript": "XM_047427347.1",
"protein_id": "XP_047283303.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 1642,
"cds_start": 536,
"cds_end": null,
"cds_length": 4929,
"cdna_start": 680,
"cdna_end": null,
"cdna_length": 5518,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHRF1",
"gene_hgnc_id": 24351,
"hgvs_c": "c.428C>T",
"hgvs_p": "p.Pro143Leu",
"transcript": "XM_011520237.4",
"protein_id": "XP_011518539.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 1609,
"cds_start": 428,
"cds_end": null,
"cds_length": 4830,
"cdna_start": 572,
"cdna_end": null,
"cdna_length": 5419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHRF1",
"gene_hgnc_id": 24351,
"hgvs_c": "c.428C>T",
"hgvs_p": "p.Pro143Leu",
"transcript": "XM_047427348.1",
"protein_id": "XP_047283304.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 1608,
"cds_start": 428,
"cds_end": null,
"cds_length": 4827,
"cdna_start": 572,
"cdna_end": null,
"cdna_length": 5416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHRF1",
"gene_hgnc_id": 24351,
"hgvs_c": "n.548C>T",
"hgvs_p": null,
"transcript": "ENST00000534320.5",
"protein_id": "ENSP00000435360.1",
"transcript_support_level": 5,
"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": 5178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PHRF1",
"gene_hgnc_id": 24351,
"dbsnp": "rs200929014",
"frequency_reference_population": 0.000348214,
"hom_count_reference_population": 0,
"allele_count_reference_population": 562,
"gnomad_exomes_af": 0.000366695,
"gnomad_genomes_af": 0.000170776,
"gnomad_exomes_ac": 536,
"gnomad_genomes_ac": 26,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5774234533309937,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.531,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.181,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.534,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000264555.10",
"gene_symbol": "PHRF1",
"hgnc_id": 24351,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.548C>T",
"hgvs_p": "p.Pro183Leu"
}
],
"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
}