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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: 10-94402712-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=94402712&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 94402712,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_015188.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D12",
"gene_hgnc_id": 29082,
"hgvs_c": "c.99C>G",
"hgvs_p": "p.Ile33Met",
"transcript": "NM_015188.2",
"protein_id": "NP_056003.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 775,
"cds_start": 99,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000225235.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015188.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D12",
"gene_hgnc_id": 29082,
"hgvs_c": "c.99C>G",
"hgvs_p": "p.Ile33Met",
"transcript": "ENST00000225235.5",
"protein_id": "ENSP00000225235.4",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 775,
"cds_start": 99,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015188.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000225235.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D12",
"gene_hgnc_id": 29082,
"hgvs_c": "c.-671C>G",
"hgvs_p": null,
"transcript": "XM_011539558.4",
"protein_id": "XP_011537860.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 473,
"cds_start": null,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539558.4"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D12",
"gene_hgnc_id": 29082,
"hgvs_c": "c.99C>G",
"hgvs_p": "p.Ile33Met",
"transcript": "ENST00000971288.1",
"protein_id": "ENSP00000641347.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 751,
"cds_start": 99,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971288.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D12",
"gene_hgnc_id": 29082,
"hgvs_c": "c.99C>G",
"hgvs_p": "p.Ile33Met",
"transcript": "ENST00000904400.1",
"protein_id": "ENSP00000574459.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 748,
"cds_start": 99,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904400.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D12",
"gene_hgnc_id": 29082,
"hgvs_c": "c.99C>G",
"hgvs_p": "p.Ile33Met",
"transcript": "ENST00000971287.1",
"protein_id": "ENSP00000641346.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 732,
"cds_start": 99,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971287.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D12",
"gene_hgnc_id": 29082,
"hgvs_c": "c.99C>G",
"hgvs_p": "p.Ile33Met",
"transcript": "ENST00000904402.1",
"protein_id": "ENSP00000574461.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 700,
"cds_start": 99,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904402.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D12",
"gene_hgnc_id": 29082,
"hgvs_c": "c.99C>G",
"hgvs_p": "p.Ile33Met",
"transcript": "ENST00000971289.1",
"protein_id": "ENSP00000641348.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 688,
"cds_start": 99,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971289.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D12",
"gene_hgnc_id": 29082,
"hgvs_c": "c.99C>G",
"hgvs_p": "p.Ile33Met",
"transcript": "ENST00000904398.1",
"protein_id": "ENSP00000574457.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 673,
"cds_start": 99,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904398.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D12",
"gene_hgnc_id": 29082,
"hgvs_c": "c.99C>G",
"hgvs_p": "p.Ile33Met",
"transcript": "ENST00000904403.1",
"protein_id": "ENSP00000574462.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 661,
"cds_start": 99,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904403.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D12",
"gene_hgnc_id": 29082,
"hgvs_c": "c.99C>G",
"hgvs_p": "p.Ile33Met",
"transcript": "ENST00000904401.1",
"protein_id": "ENSP00000574460.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 579,
"cds_start": 99,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904401.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D12",
"gene_hgnc_id": 29082,
"hgvs_c": "c.99C>G",
"hgvs_p": "p.Ile33Met",
"transcript": "ENST00000904399.1",
"protein_id": "ENSP00000574458.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 550,
"cds_start": 99,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904399.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D12",
"gene_hgnc_id": 29082,
"hgvs_c": "c.99C>G",
"hgvs_p": "p.Ile33Met",
"transcript": "XM_006717732.5",
"protein_id": "XP_006717795.2",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 748,
"cds_start": 99,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006717732.5"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D12",
"gene_hgnc_id": 29082,
"hgvs_c": "c.99C>G",
"hgvs_p": "p.Ile33Met",
"transcript": "XM_047424905.1",
"protein_id": "XP_047280861.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 592,
"cds_start": 99,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424905.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D12",
"gene_hgnc_id": 29082,
"hgvs_c": "c.99C>G",
"hgvs_p": "p.Ile33Met",
"transcript": "XM_047424906.1",
"protein_id": "XP_047280862.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 534,
"cds_start": 99,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424906.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D12",
"gene_hgnc_id": 29082,
"hgvs_c": "c.-671C>G",
"hgvs_p": null,
"transcript": "XM_011539558.4",
"protein_id": "XP_011537860.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 473,
"cds_start": null,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539558.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D12",
"gene_hgnc_id": 29082,
"hgvs_c": "n.172C>G",
"hgvs_p": null,
"transcript": "XR_945637.3",
"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": "XR_945637.3"
}
],
"gene_symbol": "TBC1D12",
"gene_hgnc_id": 29082,
"dbsnp": "rs756822838",
"frequency_reference_population": 0.000009767315,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000976731,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12434452772140503,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.121,
"revel_prediction": "Benign",
"alphamissense_score": 0.11,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.613,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015188.2",
"gene_symbol": "TBC1D12",
"hgnc_id": 29082,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.99C>G",
"hgvs_p": "p.Ile33Met"
}
],
"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
}