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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: 22-50217771-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=50217771&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 50217771,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_020461.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP6",
"gene_hgnc_id": 18127,
"hgvs_c": "c.5425C>T",
"hgvs_p": "p.Arg1809Cys",
"transcript": "NM_020461.4",
"protein_id": "NP_065194.3",
"transcript_support_level": null,
"aa_start": 1809,
"aa_end": null,
"aa_length": 1819,
"cds_start": 5425,
"cds_end": null,
"cds_length": 5460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000248846.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020461.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP6",
"gene_hgnc_id": 18127,
"hgvs_c": "c.5425C>T",
"hgvs_p": "p.Arg1809Cys",
"transcript": "ENST00000248846.10",
"protein_id": "ENSP00000248846.5",
"transcript_support_level": 1,
"aa_start": 1809,
"aa_end": null,
"aa_length": 1819,
"cds_start": 5425,
"cds_end": null,
"cds_length": 5460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020461.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000248846.10"
},
{
"aa_ref": "R",
"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": "TUBGCP6",
"gene_hgnc_id": 18127,
"hgvs_c": "c.1432C>T",
"hgvs_p": "p.Arg478Cys",
"transcript": "ENST00000425018.1",
"protein_id": "ENSP00000405979.1",
"transcript_support_level": 1,
"aa_start": 478,
"aa_end": null,
"aa_length": 488,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425018.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP6",
"gene_hgnc_id": 18127,
"hgvs_c": "n.*1002C>T",
"hgvs_p": null,
"transcript": "ENST00000439308.7",
"protein_id": "ENSP00000397387.2",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000439308.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP6",
"gene_hgnc_id": 18127,
"hgvs_c": "n.5192C>T",
"hgvs_p": null,
"transcript": "ENST00000498611.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000498611.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP6",
"gene_hgnc_id": 18127,
"hgvs_c": "n.*1002C>T",
"hgvs_p": null,
"transcript": "ENST00000439308.7",
"protein_id": "ENSP00000397387.2",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000439308.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP6",
"gene_hgnc_id": 18127,
"hgvs_c": "c.5413C>T",
"hgvs_p": "p.Arg1805Cys",
"transcript": "ENST00000949023.1",
"protein_id": "ENSP00000619082.1",
"transcript_support_level": null,
"aa_start": 1805,
"aa_end": null,
"aa_length": 1815,
"cds_start": 5413,
"cds_end": null,
"cds_length": 5448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949023.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP6",
"gene_hgnc_id": 18127,
"hgvs_c": "c.5389C>T",
"hgvs_p": "p.Arg1797Cys",
"transcript": "ENST00000949026.1",
"protein_id": "ENSP00000619085.1",
"transcript_support_level": null,
"aa_start": 1797,
"aa_end": null,
"aa_length": 1807,
"cds_start": 5389,
"cds_end": null,
"cds_length": 5424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949026.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP6",
"gene_hgnc_id": 18127,
"hgvs_c": "c.5377C>T",
"hgvs_p": "p.Arg1793Cys",
"transcript": "ENST00000883330.1",
"protein_id": "ENSP00000553389.1",
"transcript_support_level": null,
"aa_start": 1793,
"aa_end": null,
"aa_length": 1803,
"cds_start": 5377,
"cds_end": null,
"cds_length": 5412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883330.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP6",
"gene_hgnc_id": 18127,
"hgvs_c": "c.5347C>T",
"hgvs_p": "p.Arg1783Cys",
"transcript": "ENST00000949024.1",
"protein_id": "ENSP00000619083.1",
"transcript_support_level": null,
"aa_start": 1783,
"aa_end": null,
"aa_length": 1793,
"cds_start": 5347,
"cds_end": null,
"cds_length": 5382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949024.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP6",
"gene_hgnc_id": 18127,
"hgvs_c": "c.5335C>T",
"hgvs_p": "p.Arg1779Cys",
"transcript": "ENST00000949028.1",
"protein_id": "ENSP00000619087.1",
"transcript_support_level": null,
"aa_start": 1779,
"aa_end": null,
"aa_length": 1789,
"cds_start": 5335,
"cds_end": null,
"cds_length": 5370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949028.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP6",
"gene_hgnc_id": 18127,
"hgvs_c": "c.4729C>T",
"hgvs_p": "p.Arg1577Cys",
"transcript": "ENST00000949025.1",
"protein_id": "ENSP00000619084.1",
"transcript_support_level": null,
"aa_start": 1577,
"aa_end": null,
"aa_length": 1587,
"cds_start": 4729,
"cds_end": null,
"cds_length": 4764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949025.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP6",
"gene_hgnc_id": 18127,
"hgvs_c": "c.3730C>T",
"hgvs_p": "p.Arg1244Cys",
"transcript": "ENST00000949027.1",
"protein_id": "ENSP00000619086.1",
"transcript_support_level": null,
"aa_start": 1244,
"aa_end": null,
"aa_length": 1254,
"cds_start": 3730,
"cds_end": null,
"cds_length": 3765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949027.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP6",
"gene_hgnc_id": 18127,
"hgvs_c": "n.3967C>T",
"hgvs_p": null,
"transcript": "ENST00000491449.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000491449.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENOO",
"gene_hgnc_id": 30395,
"hgvs_c": "c.*402G>A",
"hgvs_p": null,
"transcript": "NM_031454.2",
"protein_id": "NP_113642.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 669,
"cds_start": null,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380903.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031454.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENOO",
"gene_hgnc_id": 30395,
"hgvs_c": "c.*402G>A",
"hgvs_p": null,
"transcript": "ENST00000380903.7",
"protein_id": "ENSP00000370288.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 669,
"cds_start": null,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_031454.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380903.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENOO",
"gene_hgnc_id": 30395,
"hgvs_c": "n.*155G>A",
"hgvs_p": null,
"transcript": "ENST00000492092.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000492092.1"
}
],
"gene_symbol": "TUBGCP6",
"gene_hgnc_id": 18127,
"dbsnp": "rs1236441479",
"frequency_reference_population": 0.000008674607,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000889332,
"gnomad_genomes_af": 0.00000657315,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8535690307617188,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.355,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.785,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.604,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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_020461.4",
"gene_symbol": "TUBGCP6",
"hgnc_id": 18127,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5425C>T",
"hgvs_p": "p.Arg1809Cys"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_031454.2",
"gene_symbol": "SELENOO",
"hgnc_id": 30395,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*402G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}