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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: 6-123512321-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=123512321&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 123512321,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000334268.9",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.592A>G",
"hgvs_p": "p.Thr198Ala",
"transcript": "NM_006073.4",
"protein_id": "NP_006064.2",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 729,
"cds_start": 592,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 767,
"cdna_end": null,
"cdna_length": 4627,
"mane_select": "ENST00000334268.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.592A>G",
"hgvs_p": "p.Thr198Ala",
"transcript": "ENST00000334268.9",
"protein_id": "ENSP00000333984.5",
"transcript_support_level": 1,
"aa_start": 198,
"aa_end": null,
"aa_length": 729,
"cds_start": 592,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 767,
"cdna_end": null,
"cdna_length": 4627,
"mane_select": "NM_006073.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.592A>G",
"hgvs_p": "p.Thr198Ala",
"transcript": "ENST00000628709.2",
"protein_id": "ENSP00000486095.1",
"transcript_support_level": 1,
"aa_start": 198,
"aa_end": null,
"aa_length": 297,
"cds_start": 592,
"cds_end": null,
"cds_length": 894,
"cdna_start": 726,
"cdna_end": null,
"cdna_length": 1661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.592A>G",
"hgvs_p": "p.Thr198Ala",
"transcript": "ENST00000546248.6",
"protein_id": "ENSP00000439281.2",
"transcript_support_level": 1,
"aa_start": 198,
"aa_end": null,
"aa_length": 286,
"cds_start": 592,
"cds_end": null,
"cds_length": 861,
"cdna_start": 1006,
"cdna_end": null,
"cdna_length": 3096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.592A>G",
"hgvs_p": "p.Thr198Ala",
"transcript": "NM_001251987.2",
"protein_id": "NP_001238916.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 461,
"cds_start": 592,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 767,
"cdna_end": null,
"cdna_length": 4606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.592A>G",
"hgvs_p": "p.Thr198Ala",
"transcript": "ENST00000662930.1",
"protein_id": "ENSP00000499585.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 461,
"cds_start": 592,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 805,
"cdna_end": null,
"cdna_length": 4649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.592A>G",
"hgvs_p": "p.Thr198Ala",
"transcript": "NM_001407315.1",
"protein_id": "NP_001394244.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 441,
"cds_start": 592,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 767,
"cdna_end": null,
"cdna_length": 4546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.592A>G",
"hgvs_p": "p.Thr198Ala",
"transcript": "NM_001256020.2",
"protein_id": "NP_001242949.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 297,
"cds_start": 592,
"cds_end": null,
"cds_length": 894,
"cdna_start": 767,
"cdna_end": null,
"cdna_length": 1702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.592A>G",
"hgvs_p": "p.Thr198Ala",
"transcript": "NM_001256021.2",
"protein_id": "NP_001242950.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 286,
"cds_start": 592,
"cds_end": null,
"cds_length": 861,
"cdna_start": 767,
"cdna_end": null,
"cdna_length": 2859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.394A>G",
"hgvs_p": "p.Thr132Ala",
"transcript": "ENST00000361029.9",
"protein_id": "ENSP00000354307.5",
"transcript_support_level": 5,
"aa_start": 132,
"aa_end": null,
"aa_length": 246,
"cds_start": 394,
"cds_end": null,
"cds_length": 741,
"cdna_start": 857,
"cdna_end": null,
"cdna_length": 2667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.394A>G",
"hgvs_p": "p.Thr132Ala",
"transcript": "ENST00000714023.1",
"protein_id": "ENSP00000519313.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 202,
"cds_start": 394,
"cds_end": null,
"cds_length": 609,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 1901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.394A>G",
"hgvs_p": "p.Thr132Ala",
"transcript": "ENST00000714039.1",
"protein_id": "ENSP00000519330.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 176,
"cds_start": 394,
"cds_end": null,
"cds_length": 531,
"cdna_start": 786,
"cdna_end": null,
"cdna_length": 992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"dbsnp": "rs952211002",
"frequency_reference_population": 0.000008661112,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000667242,
"gnomad_genomes_af": 0.000026294,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05397289991378784,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.078,
"revel_prediction": "Benign",
"alphamissense_score": 0.0888,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.422,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000334268.9",
"gene_symbol": "TRDN",
"hgnc_id": 12261,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.592A>G",
"hgvs_p": "p.Thr198Ala"
}
],
"clinvar_disease": "Cardiovascular phenotype,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:1",
"phenotype_combined": "not provided|Cardiovascular phenotype|not specified",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}