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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: 12-49185845-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=49185845&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 49185845,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000301071.12",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBA1A",
"gene_hgnc_id": 20766,
"hgvs_c": "c.521C>T",
"hgvs_p": "p.Ala174Val",
"transcript": "NM_006009.4",
"protein_id": "NP_006000.2",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 451,
"cds_start": 521,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 622,
"cdna_end": null,
"cdna_length": 1672,
"mane_select": "ENST00000301071.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBA1A",
"gene_hgnc_id": 20766,
"hgvs_c": "c.521C>T",
"hgvs_p": "p.Ala174Val",
"transcript": "ENST00000301071.12",
"protein_id": "ENSP00000301071.7",
"transcript_support_level": 1,
"aa_start": 174,
"aa_end": null,
"aa_length": 451,
"cds_start": 521,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 622,
"cdna_end": null,
"cdna_length": 1672,
"mane_select": "NM_006009.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBA1A",
"gene_hgnc_id": 20766,
"hgvs_c": "c.416C>T",
"hgvs_p": "p.Ala139Val",
"transcript": "ENST00000550767.6",
"protein_id": "ENSP00000446637.1",
"transcript_support_level": 1,
"aa_start": 139,
"aa_end": null,
"aa_length": 416,
"cds_start": 416,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 703,
"cdna_end": null,
"cdna_length": 1777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBA1A",
"gene_hgnc_id": 20766,
"hgvs_c": "c.521C>T",
"hgvs_p": "p.Ala174Val",
"transcript": "NM_001270399.2",
"protein_id": "NP_001257328.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 451,
"cds_start": 521,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1182,
"cdna_end": null,
"cdna_length": 2232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBA1A",
"gene_hgnc_id": 20766,
"hgvs_c": "c.521C>T",
"hgvs_p": "p.Ala174Val",
"transcript": "ENST00000295766.9",
"protein_id": "ENSP00000439020.2",
"transcript_support_level": 2,
"aa_start": 174,
"aa_end": null,
"aa_length": 451,
"cds_start": 521,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1001,
"cdna_end": null,
"cdna_length": 1887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBA1A",
"gene_hgnc_id": 20766,
"hgvs_c": "c.521C>T",
"hgvs_p": "p.Ala174Val",
"transcript": "ENST00000715688.1",
"protein_id": "ENSP00000520499.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 451,
"cds_start": 521,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 866,
"cdna_end": null,
"cdna_length": 1940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBA1A",
"gene_hgnc_id": 20766,
"hgvs_c": "c.416C>T",
"hgvs_p": "p.Ala139Val",
"transcript": "NM_001270400.2",
"protein_id": "NP_001257329.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 416,
"cds_start": 416,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 710,
"cdna_end": null,
"cdna_length": 1760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBA1A",
"gene_hgnc_id": 20766,
"hgvs_c": "c.416C>T",
"hgvs_p": "p.Ala139Val",
"transcript": "ENST00000547939.6",
"protein_id": "ENSP00000450268.2",
"transcript_support_level": 3,
"aa_start": 139,
"aa_end": null,
"aa_length": 416,
"cds_start": 416,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 933,
"cdna_end": null,
"cdna_length": 2007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBA1A",
"gene_hgnc_id": 20766,
"hgvs_c": "c.416C>T",
"hgvs_p": "p.Ala139Val",
"transcript": "ENST00000552924.2",
"protein_id": "ENSP00000448725.2",
"transcript_support_level": 2,
"aa_start": 139,
"aa_end": null,
"aa_length": 416,
"cds_start": 416,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 1782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBA1A",
"gene_hgnc_id": 20766,
"hgvs_c": "c.673C>T",
"hgvs_p": "p.Arg225Cys",
"transcript": "ENST00000546918.1",
"protein_id": "ENSP00000446613.1",
"transcript_support_level": 3,
"aa_start": 225,
"aa_end": null,
"aa_length": 231,
"cds_start": 673,
"cds_end": null,
"cds_length": 696,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBA1A",
"gene_hgnc_id": 20766,
"hgvs_c": "c.544C>T",
"hgvs_p": "p.Arg182Cys",
"transcript": "ENST00000679733.1",
"protein_id": "ENSP00000505459.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 188,
"cds_start": 544,
"cds_end": null,
"cds_length": 567,
"cdna_start": 643,
"cdna_end": null,
"cdna_length": 1802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBA1A",
"gene_hgnc_id": 20766,
"hgvs_c": "n.1554C>T",
"hgvs_p": null,
"transcript": "ENST00000550811.2",
"protein_id": null,
"transcript_support_level": 4,
"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": 2628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TUBA1B-AS1",
"gene_hgnc_id": 56356,
"hgvs_c": "n.474-2438G>A",
"hgvs_p": null,
"transcript": "ENST00000656133.1",
"protein_id": null,
"transcript_support_level": null,
"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": 675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBA1A",
"gene_hgnc_id": 20766,
"hgvs_c": "n.*171C>T",
"hgvs_p": null,
"transcript": "ENST00000548363.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TUBA1A",
"gene_hgnc_id": 20766,
"dbsnp": "rs587784489",
"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": 0.7376993894577026,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.633,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9841,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.29,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.459,
"phylop100way_prediction": "Pathogenic",
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP5",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000301071.12",
"gene_symbol": "TUBA1A",
"hgnc_id": 20766,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.521C>T",
"hgvs_p": "p.Ala174Val"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000656133.1",
"gene_symbol": "TUBA1B-AS1",
"hgnc_id": 56356,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.474-2438G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Continuous spike and waves during slow sleep,Early myoclonic encephalopathy,Lissencephaly due to TUBA1A mutation,Tubulinopathy,Tubulinopathy-associated dysgyria,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:3 LP:6 US:2",
"phenotype_combined": "Lissencephaly due to TUBA1A mutation|not provided|Tubulinopathy|Tubulinopathy-associated dysgyria;Early myoclonic encephalopathy;Continuous spike and waves during slow sleep",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}