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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: 13-112554080-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=112554080&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 112554080,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000261965.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP3",
"gene_hgnc_id": 18598,
"hgvs_c": "c.943C>G",
"hgvs_p": "p.Arg315Gly",
"transcript": "NM_006322.6",
"protein_id": "NP_006313.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 907,
"cds_start": 943,
"cds_end": null,
"cds_length": 2724,
"cdna_start": 1116,
"cdna_end": null,
"cdna_length": 3879,
"mane_select": "ENST00000261965.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP3",
"gene_hgnc_id": 18598,
"hgvs_c": "c.943C>G",
"hgvs_p": "p.Arg315Gly",
"transcript": "ENST00000261965.8",
"protein_id": "ENSP00000261965.3",
"transcript_support_level": 1,
"aa_start": 315,
"aa_end": null,
"aa_length": 907,
"cds_start": 943,
"cds_end": null,
"cds_length": 2724,
"cdna_start": 1116,
"cdna_end": null,
"cdna_length": 3879,
"mane_select": "NM_006322.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP3",
"gene_hgnc_id": 18598,
"hgvs_c": "c.943C>G",
"hgvs_p": "p.Arg315Gly",
"transcript": "ENST00000375669.7",
"protein_id": "ENSP00000364821.3",
"transcript_support_level": 1,
"aa_start": 315,
"aa_end": null,
"aa_length": 824,
"cds_start": 943,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 1088,
"cdna_end": null,
"cdna_length": 2723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP3",
"gene_hgnc_id": 18598,
"hgvs_c": "c.943C>G",
"hgvs_p": "p.Arg315Gly",
"transcript": "ENST00000464139.5",
"protein_id": "ENSP00000478276.1",
"transcript_support_level": 1,
"aa_start": 315,
"aa_end": null,
"aa_length": 439,
"cds_start": 943,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 1098,
"cdna_end": null,
"cdna_length": 2461,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP3",
"gene_hgnc_id": 18598,
"hgvs_c": "c.913C>G",
"hgvs_p": "p.Arg305Gly",
"transcript": "NM_001286277.2",
"protein_id": "NP_001273206.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 897,
"cds_start": 913,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 3849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP3",
"gene_hgnc_id": 18598,
"hgvs_c": "c.943C>G",
"hgvs_p": "p.Arg315Gly",
"transcript": "NM_001286278.2",
"protein_id": "NP_001273207.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 824,
"cds_start": 943,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 1116,
"cdna_end": null,
"cdna_length": 2751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP3",
"gene_hgnc_id": 18598,
"hgvs_c": "c.943C>G",
"hgvs_p": "p.Arg315Gly",
"transcript": "NM_001286279.2",
"protein_id": "NP_001273208.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 439,
"cds_start": 943,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 1116,
"cdna_end": null,
"cdna_length": 2479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP3",
"gene_hgnc_id": 18598,
"hgvs_c": "c.943C>G",
"hgvs_p": "p.Arg315Gly",
"transcript": "XM_005268293.3",
"protein_id": "XP_005268350.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 818,
"cds_start": 943,
"cds_end": null,
"cds_length": 2457,
"cdna_start": 1116,
"cdna_end": null,
"cdna_length": 2755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP3",
"gene_hgnc_id": 18598,
"hgvs_c": "c.943C>G",
"hgvs_p": "p.Arg315Gly",
"transcript": "XM_011537462.3",
"protein_id": "XP_011535764.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 807,
"cds_start": 943,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 1116,
"cdna_end": null,
"cdna_length": 3579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP3",
"gene_hgnc_id": 18598,
"hgvs_c": "c.943C>G",
"hgvs_p": "p.Arg315Gly",
"transcript": "XM_047430036.1",
"protein_id": "XP_047285992.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 724,
"cds_start": 943,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1116,
"cdna_end": null,
"cdna_length": 2451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP3",
"gene_hgnc_id": 18598,
"hgvs_c": "c.943C>G",
"hgvs_p": "p.Arg315Gly",
"transcript": "XM_047430037.1",
"protein_id": "XP_047285993.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 718,
"cds_start": 943,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 1116,
"cdna_end": null,
"cdna_length": 2455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP3",
"gene_hgnc_id": 18598,
"hgvs_c": "c.256C>G",
"hgvs_p": "p.Arg86Gly",
"transcript": "XM_017020323.3",
"protein_id": "XP_016875812.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 678,
"cds_start": 256,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 3832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP3",
"gene_hgnc_id": 18598,
"hgvs_c": "c.256C>G",
"hgvs_p": "p.Arg86Gly",
"transcript": "XM_047430038.1",
"protein_id": "XP_047285994.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 678,
"cds_start": 256,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 1182,
"cdna_end": null,
"cdna_length": 3945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP3",
"gene_hgnc_id": 18598,
"hgvs_c": "c.256C>G",
"hgvs_p": "p.Arg86Gly",
"transcript": "XM_047430039.1",
"protein_id": "XP_047285995.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 678,
"cds_start": 256,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 1239,
"cdna_end": null,
"cdna_length": 4002,
"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": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP3",
"gene_hgnc_id": 18598,
"hgvs_c": "n.943C>G",
"hgvs_p": null,
"transcript": "ENST00000649778.1",
"protein_id": "ENSP00000497715.1",
"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": 4111,
"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": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP3",
"gene_hgnc_id": 18598,
"hgvs_c": "n.1116C>G",
"hgvs_p": null,
"transcript": "XR_007063655.1",
"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": 2205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TUBGCP3",
"gene_hgnc_id": 18598,
"dbsnp": "rs142891996",
"frequency_reference_population": 0.0000061604933,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000616049,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7375311851501465,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.26,
"revel_prediction": "Benign",
"alphamissense_score": 0.3542,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.989,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000261965.8",
"gene_symbol": "TUBGCP3",
"hgnc_id": 18598,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.943C>G",
"hgvs_p": "p.Arg315Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}