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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: 13-75326374-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=75326374&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 75326374,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000377636.8",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.1856C>T",
"hgvs_p": "p.Pro619Leu",
"transcript": "NM_014832.5",
"protein_id": "NP_055647.2",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 1298,
"cds_start": 1856,
"cds_end": null,
"cds_length": 3897,
"cdna_start": 2258,
"cdna_end": null,
"cdna_length": 7588,
"mane_select": "ENST00000377636.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.1856C>T",
"hgvs_p": "p.Pro619Leu",
"transcript": "ENST00000377636.8",
"protein_id": "ENSP00000366863.3",
"transcript_support_level": 2,
"aa_start": 619,
"aa_end": null,
"aa_length": 1298,
"cds_start": 1856,
"cds_end": null,
"cds_length": 3897,
"cdna_start": 2258,
"cdna_end": null,
"cdna_length": 7588,
"mane_select": "NM_014832.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.1856C>T",
"hgvs_p": "p.Pro619Leu",
"transcript": "ENST00000431480.6",
"protein_id": "ENSP00000395986.2",
"transcript_support_level": 1,
"aa_start": 619,
"aa_end": null,
"aa_length": 1290,
"cds_start": 1856,
"cds_end": null,
"cds_length": 3873,
"cdna_start": 2203,
"cdna_end": null,
"cdna_length": 6347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.1856C>T",
"hgvs_p": "p.Pro619Leu",
"transcript": "ENST00000377625.6",
"protein_id": "ENSP00000366852.2",
"transcript_support_level": 1,
"aa_start": 619,
"aa_end": null,
"aa_length": 1235,
"cds_start": 1856,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 2203,
"cdna_end": null,
"cdna_length": 6182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.-305C>T",
"hgvs_p": null,
"transcript": "XM_047430812.1",
"protein_id": "XP_047286768.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 515,
"cds_start": -4,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.1856C>T",
"hgvs_p": "p.Pro619Leu",
"transcript": "NM_001286658.2",
"protein_id": "NP_001273587.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 1290,
"cds_start": 1856,
"cds_end": null,
"cds_length": 3873,
"cdna_start": 2257,
"cdna_end": null,
"cdna_length": 6402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.1856C>T",
"hgvs_p": "p.Pro619Leu",
"transcript": "NM_001286659.2",
"protein_id": "NP_001273588.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 1235,
"cds_start": 1856,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 2257,
"cdna_end": null,
"cdna_length": 6237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.1313C>T",
"hgvs_p": "p.Pro438Leu",
"transcript": "ENST00000648194.1",
"protein_id": "ENSP00000496983.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 1054,
"cds_start": 1313,
"cds_end": null,
"cds_length": 3165,
"cdna_start": 1515,
"cdna_end": null,
"cdna_length": 6656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Pro131Leu",
"transcript": "ENST00000413735.1",
"protein_id": "ENSP00000396932.1",
"transcript_support_level": 5,
"aa_start": 131,
"aa_end": null,
"aa_length": 281,
"cds_start": 392,
"cds_end": null,
"cds_length": 847,
"cdna_start": 392,
"cdna_end": null,
"cdna_length": 847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.1781C>T",
"hgvs_p": "p.Pro594Leu",
"transcript": "XM_005266603.3",
"protein_id": "XP_005266660.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 1273,
"cds_start": 1781,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 2183,
"cdna_end": null,
"cdna_length": 7513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.1781C>T",
"hgvs_p": "p.Pro594Leu",
"transcript": "XM_047430808.1",
"protein_id": "XP_047286764.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 1265,
"cds_start": 1781,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 2183,
"cdna_end": null,
"cdna_length": 7489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.1745C>T",
"hgvs_p": "p.Pro582Leu",
"transcript": "XM_011535331.3",
"protein_id": "XP_011533633.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 1261,
"cds_start": 1745,
"cds_end": null,
"cds_length": 3786,
"cdna_start": 2147,
"cdna_end": null,
"cdna_length": 7477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.1781C>T",
"hgvs_p": "p.Pro594Leu",
"transcript": "XM_047430809.1",
"protein_id": "XP_047286765.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 1210,
"cds_start": 1781,
"cds_end": null,
"cds_length": 3633,
"cdna_start": 2183,
"cdna_end": null,
"cdna_length": 7324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.1745C>T",
"hgvs_p": "p.Pro582Leu",
"transcript": "XM_047430810.1",
"protein_id": "XP_047286766.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 1198,
"cds_start": 1745,
"cds_end": null,
"cds_length": 3597,
"cdna_start": 2147,
"cdna_end": null,
"cdna_length": 7288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.1670C>T",
"hgvs_p": "p.Pro557Leu",
"transcript": "XM_047430811.1",
"protein_id": "XP_047286767.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 1173,
"cds_start": 1670,
"cds_end": null,
"cds_length": 3522,
"cdna_start": 2072,
"cdna_end": null,
"cdna_length": 7213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.1382C>T",
"hgvs_p": "p.Pro461Leu",
"transcript": "XM_006719903.4",
"protein_id": "XP_006719966.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 1140,
"cds_start": 1382,
"cds_end": null,
"cds_length": 3423,
"cdna_start": 9099,
"cdna_end": null,
"cdna_length": 14429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.-305C>T",
"hgvs_p": null,
"transcript": "XM_047430812.1",
"protein_id": "XP_047286768.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 515,
"cds_start": -4,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "n.-124C>T",
"hgvs_p": null,
"transcript": "ENST00000488955.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"dbsnp": "rs56223054",
"frequency_reference_population": 0.004531926,
"hom_count_reference_population": 16,
"allele_count_reference_population": 7315,
"gnomad_exomes_af": 0.00465426,
"gnomad_genomes_af": 0.00335707,
"gnomad_exomes_ac": 6804,
"gnomad_genomes_ac": 511,
"gnomad_exomes_homalt": 15,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004371672868728638,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.099,
"revel_prediction": "Benign",
"alphamissense_score": 0.0444,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.957,
"phylop100way_prediction": "Uncertain_significance",
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000377636.8",
"gene_symbol": "TBC1D4",
"hgnc_id": 19165,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1856C>T",
"hgvs_p": "p.Pro619Leu"
}
],
"clinvar_disease": "TBC1D4-related disorder,not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not specified|TBC1D4-related disorder|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}