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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: 12-49129702-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=49129702&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 49129702,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_006082.3",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBA1B",
"gene_hgnc_id": 18809,
"hgvs_c": "c.24C>T",
"hgvs_p": "p.His8His",
"transcript": "NM_006082.3",
"protein_id": "NP_006073.2",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 451,
"cds_start": 24,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000336023.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006082.3"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBA1B",
"gene_hgnc_id": 18809,
"hgvs_c": "c.24C>T",
"hgvs_p": "p.His8His",
"transcript": "ENST00000336023.9",
"protein_id": "ENSP00000336799.5",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 451,
"cds_start": 24,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006082.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336023.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBA1B",
"gene_hgnc_id": 18809,
"hgvs_c": "n.1694C>T",
"hgvs_p": null,
"transcript": "ENST00000332858.10",
"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": "ENST00000332858.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBA1B",
"gene_hgnc_id": 18809,
"hgvs_c": "c.-82C>T",
"hgvs_p": null,
"transcript": "ENST00000549870.5",
"protein_id": "ENSP00000449460.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 80,
"cds_start": null,
"cds_end": null,
"cds_length": 244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549870.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBA1B",
"gene_hgnc_id": 18809,
"hgvs_c": "c.-82C>T",
"hgvs_p": null,
"transcript": "ENST00000547476.5",
"protein_id": "ENSP00000449748.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 74,
"cds_start": null,
"cds_end": null,
"cds_length": 226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547476.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBA1B",
"gene_hgnc_id": 18809,
"hgvs_c": "c.-82C>T",
"hgvs_p": null,
"transcript": "ENST00000552984.1",
"protein_id": "ENSP00000448648.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 48,
"cds_start": null,
"cds_end": null,
"cds_length": 148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552984.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBA1B",
"gene_hgnc_id": 18809,
"hgvs_c": "c.24C>T",
"hgvs_p": "p.His8His",
"transcript": "ENST00000920098.1",
"protein_id": "ENSP00000590157.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 432,
"cds_start": 24,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920098.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBA1B",
"gene_hgnc_id": 18809,
"hgvs_c": "c.24C>T",
"hgvs_p": "p.His8His",
"transcript": "ENST00000920097.1",
"protein_id": "ENSP00000590156.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 415,
"cds_start": 24,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920097.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBA1B",
"gene_hgnc_id": 18809,
"hgvs_c": "c.24C>T",
"hgvs_p": "p.His8His",
"transcript": "ENST00000550367.1",
"protein_id": "ENSP00000449325.1",
"transcript_support_level": 3,
"aa_start": 8,
"aa_end": null,
"aa_length": 245,
"cds_start": 24,
"cds_end": null,
"cds_length": 740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550367.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBA1B",
"gene_hgnc_id": 18809,
"hgvs_c": "c.24C>T",
"hgvs_p": "p.His8His",
"transcript": "ENST00000920100.1",
"protein_id": "ENSP00000590159.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 134,
"cds_start": 24,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920100.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBA1B",
"gene_hgnc_id": 18809,
"hgvs_c": "c.24C>T",
"hgvs_p": "p.His8His",
"transcript": "ENST00000920099.1",
"protein_id": "ENSP00000590158.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 130,
"cds_start": 24,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920099.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBA1B",
"gene_hgnc_id": 18809,
"hgvs_c": "c.24C>T",
"hgvs_p": "p.His8His",
"transcript": "ENST00000920101.1",
"protein_id": "ENSP00000590160.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 104,
"cds_start": 24,
"cds_end": null,
"cds_length": 315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920101.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBA1B",
"gene_hgnc_id": 18809,
"hgvs_c": "c.-82C>T",
"hgvs_p": null,
"transcript": "ENST00000549870.5",
"protein_id": "ENSP00000449460.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 80,
"cds_start": null,
"cds_end": null,
"cds_length": 244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549870.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBA1B",
"gene_hgnc_id": 18809,
"hgvs_c": "c.-82C>T",
"hgvs_p": null,
"transcript": "ENST00000547476.5",
"protein_id": "ENSP00000449748.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 74,
"cds_start": null,
"cds_end": null,
"cds_length": 226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547476.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBA1B",
"gene_hgnc_id": 18809,
"hgvs_c": "c.-82C>T",
"hgvs_p": null,
"transcript": "ENST00000552984.1",
"protein_id": "ENSP00000448648.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 48,
"cds_start": null,
"cds_end": null,
"cds_length": 148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552984.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBA1B",
"gene_hgnc_id": 18809,
"hgvs_c": "n.*158C>T",
"hgvs_p": null,
"transcript": "ENST00000547765.5",
"protein_id": "ENSP00000448045.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000547765.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBA1B",
"gene_hgnc_id": 18809,
"hgvs_c": "n.119C>T",
"hgvs_p": null,
"transcript": "ENST00000551324.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000551324.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBA1B",
"gene_hgnc_id": 18809,
"hgvs_c": "n.*158C>T",
"hgvs_p": null,
"transcript": "ENST00000547765.5",
"protein_id": "ENSP00000448045.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000547765.5"
},
{
"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.854+838G>A",
"hgvs_p": null,
"transcript": "ENST00000547387.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000547387.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TUBA1B-AS1",
"gene_hgnc_id": 56356,
"hgvs_c": "n.344+1577G>A",
"hgvs_p": null,
"transcript": "ENST00000811789.1",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000811789.1"
}
],
"gene_symbol": "TUBA1B",
"gene_hgnc_id": 18809,
"dbsnp": "rs147263503",
"frequency_reference_population": 0.0005725276,
"hom_count_reference_population": 1,
"allele_count_reference_population": 924,
"gnomad_exomes_af": 0.000543135,
"gnomad_genomes_af": 0.000855184,
"gnomad_exomes_ac": 794,
"gnomad_genomes_ac": 130,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5199999809265137,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.635,
"phylop100way_prediction": "Benign",
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_006082.3",
"gene_symbol": "TUBA1B",
"hgnc_id": 18809,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.24C>T",
"hgvs_p": "p.His8His"
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000547387.1",
"gene_symbol": "TUBA1B-AS1",
"hgnc_id": 56356,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.854+838G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}