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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: 22-50217756-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=50217756&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 50217756,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_020461.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "Y",
"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.5440A>T",
"hgvs_p": "p.Asn1814Tyr",
"transcript": "NM_020461.4",
"protein_id": "NP_065194.3",
"transcript_support_level": null,
"aa_start": 1814,
"aa_end": null,
"aa_length": 1819,
"cds_start": 5440,
"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": "N",
"aa_alt": "Y",
"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.5440A>T",
"hgvs_p": "p.Asn1814Tyr",
"transcript": "ENST00000248846.10",
"protein_id": "ENSP00000248846.5",
"transcript_support_level": 1,
"aa_start": 1814,
"aa_end": null,
"aa_length": 1819,
"cds_start": 5440,
"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": "N",
"aa_alt": "Y",
"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.1447A>T",
"hgvs_p": "p.Asn483Tyr",
"transcript": "ENST00000425018.1",
"protein_id": "ENSP00000405979.1",
"transcript_support_level": 1,
"aa_start": 483,
"aa_end": null,
"aa_length": 488,
"cds_start": 1447,
"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.*1017A>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.5207A>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.*1017A>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": "N",
"aa_alt": "Y",
"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.5428A>T",
"hgvs_p": "p.Asn1810Tyr",
"transcript": "ENST00000949023.1",
"protein_id": "ENSP00000619082.1",
"transcript_support_level": null,
"aa_start": 1810,
"aa_end": null,
"aa_length": 1815,
"cds_start": 5428,
"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": "N",
"aa_alt": "Y",
"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.5404A>T",
"hgvs_p": "p.Asn1802Tyr",
"transcript": "ENST00000949026.1",
"protein_id": "ENSP00000619085.1",
"transcript_support_level": null,
"aa_start": 1802,
"aa_end": null,
"aa_length": 1807,
"cds_start": 5404,
"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": "N",
"aa_alt": "Y",
"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.5392A>T",
"hgvs_p": "p.Asn1798Tyr",
"transcript": "ENST00000883330.1",
"protein_id": "ENSP00000553389.1",
"transcript_support_level": null,
"aa_start": 1798,
"aa_end": null,
"aa_length": 1803,
"cds_start": 5392,
"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": "N",
"aa_alt": "Y",
"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.5362A>T",
"hgvs_p": "p.Asn1788Tyr",
"transcript": "ENST00000949024.1",
"protein_id": "ENSP00000619083.1",
"transcript_support_level": null,
"aa_start": 1788,
"aa_end": null,
"aa_length": 1793,
"cds_start": 5362,
"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": "N",
"aa_alt": "Y",
"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.5350A>T",
"hgvs_p": "p.Asn1784Tyr",
"transcript": "ENST00000949028.1",
"protein_id": "ENSP00000619087.1",
"transcript_support_level": null,
"aa_start": 1784,
"aa_end": null,
"aa_length": 1789,
"cds_start": 5350,
"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": "N",
"aa_alt": "Y",
"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.4744A>T",
"hgvs_p": "p.Asn1582Tyr",
"transcript": "ENST00000949025.1",
"protein_id": "ENSP00000619084.1",
"transcript_support_level": null,
"aa_start": 1582,
"aa_end": null,
"aa_length": 1587,
"cds_start": 4744,
"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": "N",
"aa_alt": "Y",
"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.3745A>T",
"hgvs_p": "p.Asn1249Tyr",
"transcript": "ENST00000949027.1",
"protein_id": "ENSP00000619086.1",
"transcript_support_level": null,
"aa_start": 1249,
"aa_end": null,
"aa_length": 1254,
"cds_start": 3745,
"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.3982A>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.*387T>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.*387T>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.*140T>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": "rs762167154",
"frequency_reference_population": 0.0000229291,
"hom_count_reference_population": 0,
"allele_count_reference_population": 37,
"gnomad_exomes_af": 0.0000225754,
"gnomad_genomes_af": 0.0000263328,
"gnomad_exomes_ac": 33,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.43168771266937256,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.231,
"revel_prediction": "Benign",
"alphamissense_score": 0.3355,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.09,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.06,
"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_020461.4",
"gene_symbol": "TUBGCP6",
"hgnc_id": 18127,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5440A>T",
"hgvs_p": "p.Asn1814Tyr"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_031454.2",
"gene_symbol": "SELENOO",
"hgnc_id": 30395,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*387T>A",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}