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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: 6-121090927-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=121090927&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 121090927,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_152730.6",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D32",
"gene_hgnc_id": 21485,
"hgvs_c": "c.3580A>G",
"hgvs_p": "p.Ile1194Val",
"transcript": "NM_152730.6",
"protein_id": "NP_689943.4",
"transcript_support_level": null,
"aa_start": 1194,
"aa_end": null,
"aa_length": 1257,
"cds_start": 3580,
"cds_end": null,
"cds_length": 3774,
"cdna_start": 3630,
"cdna_end": null,
"cdna_length": 5101,
"mane_select": "ENST00000398212.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D32",
"gene_hgnc_id": 21485,
"hgvs_c": "c.3580A>G",
"hgvs_p": "p.Ile1194Val",
"transcript": "ENST00000398212.7",
"protein_id": "ENSP00000381270.2",
"transcript_support_level": 5,
"aa_start": 1194,
"aa_end": null,
"aa_length": 1257,
"cds_start": 3580,
"cds_end": null,
"cds_length": 3774,
"cdna_start": 3630,
"cdna_end": null,
"cdna_length": 5101,
"mane_select": "NM_152730.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D32",
"gene_hgnc_id": 21485,
"hgvs_c": "c.3703A>G",
"hgvs_p": "p.Ile1235Val",
"transcript": "ENST00000275159.11",
"protein_id": "ENSP00000275159.6",
"transcript_support_level": 5,
"aa_start": 1235,
"aa_end": null,
"aa_length": 1298,
"cds_start": 3703,
"cds_end": null,
"cds_length": 3897,
"cdna_start": 3753,
"cdna_end": null,
"cdna_length": 5224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D32",
"gene_hgnc_id": 21485,
"hgvs_c": "n.*4220A>G",
"hgvs_p": null,
"transcript": "ENST00000464622.5",
"protein_id": "ENSP00000428839.1",
"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": 5323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D32",
"gene_hgnc_id": 21485,
"hgvs_c": "n.*4220A>G",
"hgvs_p": null,
"transcript": "ENST00000464622.5",
"protein_id": "ENSP00000428839.1",
"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": 5323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D32",
"gene_hgnc_id": 21485,
"hgvs_c": "c.3703A>G",
"hgvs_p": "p.Ile1235Val",
"transcript": "NM_001367759.1",
"protein_id": "NP_001354688.1",
"transcript_support_level": null,
"aa_start": 1235,
"aa_end": null,
"aa_length": 1298,
"cds_start": 3703,
"cds_end": null,
"cds_length": 3897,
"cdna_start": 3816,
"cdna_end": null,
"cdna_length": 5287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D32",
"gene_hgnc_id": 21485,
"hgvs_c": "c.3703A>G",
"hgvs_p": "p.Ile1235Val",
"transcript": "NM_001367760.1",
"protein_id": "NP_001354689.1",
"transcript_support_level": null,
"aa_start": 1235,
"aa_end": null,
"aa_length": 1298,
"cds_start": 3703,
"cds_end": null,
"cds_length": 3897,
"cdna_start": 3753,
"cdna_end": null,
"cdna_length": 5224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D32",
"gene_hgnc_id": 21485,
"hgvs_c": "c.3766A>G",
"hgvs_p": "p.Ile1256Val",
"transcript": "XM_011535570.2",
"protein_id": "XP_011533872.1",
"transcript_support_level": null,
"aa_start": 1256,
"aa_end": null,
"aa_length": 1319,
"cds_start": 3766,
"cds_end": null,
"cds_length": 3960,
"cdna_start": 3879,
"cdna_end": null,
"cdna_length": 5350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D32",
"gene_hgnc_id": 21485,
"hgvs_c": "c.3766A>G",
"hgvs_p": "p.Ile1256Val",
"transcript": "XM_011535571.4",
"protein_id": "XP_011533873.1",
"transcript_support_level": null,
"aa_start": 1256,
"aa_end": null,
"aa_length": 1319,
"cds_start": 3766,
"cds_end": null,
"cds_length": 3960,
"cdna_start": 3884,
"cdna_end": null,
"cdna_length": 5355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D32",
"gene_hgnc_id": 21485,
"hgvs_c": "c.3703A>G",
"hgvs_p": "p.Ile1235Val",
"transcript": "XM_017010398.3",
"protein_id": "XP_016865887.1",
"transcript_support_level": null,
"aa_start": 1235,
"aa_end": null,
"aa_length": 1298,
"cds_start": 3703,
"cds_end": null,
"cds_length": 3897,
"cdna_start": 3821,
"cdna_end": null,
"cdna_length": 5292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D32",
"gene_hgnc_id": 21485,
"hgvs_c": "c.3643A>G",
"hgvs_p": "p.Ile1215Val",
"transcript": "XM_047418309.1",
"protein_id": "XP_047274265.1",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1278,
"cds_start": 3643,
"cds_end": null,
"cds_length": 3837,
"cdna_start": 3693,
"cdna_end": null,
"cdna_length": 5164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D32",
"gene_hgnc_id": 21485,
"hgvs_c": "c.3640A>G",
"hgvs_p": "p.Ile1214Val",
"transcript": "XM_047418310.1",
"protein_id": "XP_047274266.1",
"transcript_support_level": null,
"aa_start": 1214,
"aa_end": null,
"aa_length": 1277,
"cds_start": 3640,
"cds_end": null,
"cds_length": 3834,
"cdna_start": 3690,
"cdna_end": null,
"cdna_length": 5161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D32",
"gene_hgnc_id": 21485,
"hgvs_c": "c.3577A>G",
"hgvs_p": "p.Ile1193Val",
"transcript": "XM_047418311.1",
"protein_id": "XP_047274267.1",
"transcript_support_level": null,
"aa_start": 1193,
"aa_end": null,
"aa_length": 1256,
"cds_start": 3577,
"cds_end": null,
"cds_length": 3771,
"cdna_start": 3690,
"cdna_end": null,
"cdna_length": 5161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D32",
"gene_hgnc_id": 21485,
"hgvs_c": "c.3439A>G",
"hgvs_p": "p.Ile1147Val",
"transcript": "XM_011535574.2",
"protein_id": "XP_011533876.1",
"transcript_support_level": null,
"aa_start": 1147,
"aa_end": null,
"aa_length": 1210,
"cds_start": 3439,
"cds_end": null,
"cds_length": 3633,
"cdna_start": 3553,
"cdna_end": null,
"cdna_length": 5024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D32",
"gene_hgnc_id": 21485,
"hgvs_c": "c.2587A>G",
"hgvs_p": "p.Ile863Val",
"transcript": "XM_011535580.3",
"protein_id": "XP_011533882.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 926,
"cds_start": 2587,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 2680,
"cdna_end": null,
"cdna_length": 4151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D32",
"gene_hgnc_id": 21485,
"hgvs_c": "c.1954A>G",
"hgvs_p": "p.Ile652Val",
"transcript": "XM_017010404.1",
"protein_id": "XP_016865893.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 715,
"cds_start": 1954,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 2107,
"cdna_end": null,
"cdna_length": 3578,
"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": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D32",
"gene_hgnc_id": 21485,
"hgvs_c": "n.1219A>G",
"hgvs_p": null,
"transcript": "ENST00000398197.6",
"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": 2690,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D32",
"gene_hgnc_id": 21485,
"hgvs_c": "n.263A>G",
"hgvs_p": null,
"transcript": "ENST00000519972.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 369,
"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": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D32",
"gene_hgnc_id": 21485,
"hgvs_c": "n.4597A>G",
"hgvs_p": null,
"transcript": "NR_104452.2",
"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": 6068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TBC1D32",
"gene_hgnc_id": 21485,
"dbsnp": "rs1776734918",
"frequency_reference_population": 6.8433246e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84332e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13179177045822144,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.091,
"revel_prediction": "Benign",
"alphamissense_score": 0.0685,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.048,
"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": 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_152730.6",
"gene_symbol": "TBC1D32",
"hgnc_id": 21485,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.3580A>G",
"hgvs_p": "p.Ile1194Val"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}