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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: 11-120123049-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=120123049&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 120123049,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000341846.10",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM29",
"gene_hgnc_id": 17274,
"hgvs_c": "c.1340A>C",
"hgvs_p": "p.Asp447Ala",
"transcript": "NM_012101.4",
"protein_id": "NP_036233.2",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 588,
"cds_start": 1340,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 1422,
"cdna_end": null,
"cdna_length": 2977,
"mane_select": "ENST00000341846.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM29",
"gene_hgnc_id": 17274,
"hgvs_c": "c.1340A>C",
"hgvs_p": "p.Asp447Ala",
"transcript": "ENST00000341846.10",
"protein_id": "ENSP00000343129.5",
"transcript_support_level": 1,
"aa_start": 447,
"aa_end": null,
"aa_length": 588,
"cds_start": 1340,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 1422,
"cdna_end": null,
"cdna_length": 2977,
"mane_select": "NM_012101.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM29",
"gene_hgnc_id": 17274,
"hgvs_c": "c.557A>C",
"hgvs_p": "p.Asp186Ala",
"transcript": "NM_001330382.2",
"protein_id": "NP_001317311.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 327,
"cds_start": 557,
"cds_end": null,
"cds_length": 984,
"cdna_start": 742,
"cdna_end": null,
"cdna_length": 2297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM29",
"gene_hgnc_id": 17274,
"hgvs_c": "c.557A>C",
"hgvs_p": "p.Asp186Ala",
"transcript": "ENST00000529044.5",
"protein_id": "ENSP00000436015.1",
"transcript_support_level": 2,
"aa_start": 186,
"aa_end": null,
"aa_length": 327,
"cds_start": 557,
"cds_end": null,
"cds_length": 984,
"cdna_start": 802,
"cdna_end": null,
"cdna_length": 1233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM29",
"gene_hgnc_id": 17274,
"hgvs_c": "c.1340A>C",
"hgvs_p": "p.Asp447Ala",
"transcript": "XM_047426688.1",
"protein_id": "XP_047282644.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 622,
"cds_start": 1340,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1422,
"cdna_end": null,
"cdna_length": 3079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM29",
"gene_hgnc_id": 17274,
"hgvs_c": "c.1340A>C",
"hgvs_p": "p.Asp447Ala",
"transcript": "XM_047426689.1",
"protein_id": "XP_047282645.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 621,
"cds_start": 1340,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 1422,
"cdna_end": null,
"cdna_length": 3076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM29",
"gene_hgnc_id": 17274,
"hgvs_c": "c.557A>C",
"hgvs_p": "p.Asp186Ala",
"transcript": "XM_017017453.2",
"protein_id": "XP_016872942.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 361,
"cds_start": 557,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 742,
"cdna_end": null,
"cdna_length": 2399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM29",
"gene_hgnc_id": 17274,
"hgvs_c": "c.539A>C",
"hgvs_p": "p.Asp180Ala",
"transcript": "XM_011542733.2",
"protein_id": "XP_011541035.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 355,
"cds_start": 539,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 686,
"cdna_end": null,
"cdna_length": 2343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM29",
"gene_hgnc_id": 17274,
"hgvs_c": "c.539A>C",
"hgvs_p": "p.Asp180Ala",
"transcript": "XM_005271490.2",
"protein_id": "XP_005271547.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 321,
"cds_start": 539,
"cds_end": null,
"cds_length": 966,
"cdna_start": 686,
"cdna_end": null,
"cdna_length": 2241,
"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": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM29",
"gene_hgnc_id": 17274,
"hgvs_c": "n.*678A>C",
"hgvs_p": null,
"transcript": "ENST00000475051.4",
"protein_id": "ENSP00000433779.1",
"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": 1702,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM29",
"gene_hgnc_id": 17274,
"hgvs_c": "n.89A>C",
"hgvs_p": null,
"transcript": "ENST00000524816.7",
"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": 1632,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM29",
"gene_hgnc_id": 17274,
"hgvs_c": "n.117A>C",
"hgvs_p": null,
"transcript": "ENST00000525327.5",
"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": 548,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM29",
"gene_hgnc_id": 17274,
"hgvs_c": "n.674A>C",
"hgvs_p": null,
"transcript": "ENST00000530470.1",
"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": 771,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM29",
"gene_hgnc_id": 17274,
"hgvs_c": "c.-62A>C",
"hgvs_p": null,
"transcript": "ENST00000528870.5",
"protein_id": "ENSP00000435696.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 121,
"cds_start": -4,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM29",
"gene_hgnc_id": 17274,
"hgvs_c": "n.*678A>C",
"hgvs_p": null,
"transcript": "ENST00000475051.4",
"protein_id": "ENSP00000433779.1",
"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": 1702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM29",
"gene_hgnc_id": 17274,
"hgvs_c": "c.-17A>C",
"hgvs_p": null,
"transcript": "ENST00000533302.5",
"protein_id": "ENSP00000437078.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 169,
"cds_start": -4,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 514,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM29",
"gene_hgnc_id": 17274,
"hgvs_c": "n.-17A>C",
"hgvs_p": null,
"transcript": "ENST00000531555.5",
"protein_id": "ENSP00000433122.1",
"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": 535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TRIM29",
"gene_hgnc_id": 17274,
"dbsnp": "rs183375845",
"frequency_reference_population": 0.000016728272,
"hom_count_reference_population": 0,
"allele_count_reference_population": 27,
"gnomad_exomes_af": 0.00000752488,
"gnomad_genomes_af": 0.000105114,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 16,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.48779037594795227,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.214,
"revel_prediction": "Benign",
"alphamissense_score": 0.7683,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.568,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000341846.10",
"gene_symbol": "TRIM29",
"hgnc_id": 17274,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1340A>C",
"hgvs_p": "p.Asp447Ala"
}
],
"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
}