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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: 19-41353006-T-TAGCAGC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=41353006&ref=T&alt=TAGCAGC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 41353006,
"ref": "T",
"alt": "TAGCAGC",
"effect": "disruptive_inframe_insertion",
"transcript": "ENST00000221930.6",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "LLL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB1",
"gene_hgnc_id": 11766,
"hgvs_c": "c.33_38dupGCTGCT",
"hgvs_p": "p.Leu12_Leu13dup",
"transcript": "NM_000660.7",
"protein_id": "NP_000651.3",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 390,
"cds_start": 38,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 916,
"cdna_end": null,
"cdna_length": 2780,
"mane_select": "ENST00000221930.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LLL",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB1",
"gene_hgnc_id": 11766,
"hgvs_c": "c.33_38dupGCTGCT",
"hgvs_p": "p.Leu12_Leu13dup",
"transcript": "ENST00000221930.6",
"protein_id": "ENSP00000221930.4",
"transcript_support_level": 1,
"aa_start": 13,
"aa_end": null,
"aa_length": 390,
"cds_start": 38,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 916,
"cdna_end": null,
"cdna_length": 2780,
"mane_select": "NM_000660.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM91",
"gene_hgnc_id": 32393,
"hgvs_c": "c.-30+1808_-30+1813dupAGCAGC",
"hgvs_p": null,
"transcript": "ENST00000539627.5",
"protein_id": "ENSP00000441900.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 132,
"cds_start": -4,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LLL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB1",
"gene_hgnc_id": 11766,
"hgvs_c": "c.33_38dupGCTGCT",
"hgvs_p": "p.Leu12_Leu13dup",
"transcript": "ENST00000600196.2",
"protein_id": "ENSP00000504008.1",
"transcript_support_level": 5,
"aa_start": 13,
"aa_end": null,
"aa_length": 370,
"cds_start": 38,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 38,
"cdna_end": null,
"cdna_length": 1250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LLL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB1",
"gene_hgnc_id": 11766,
"hgvs_c": "c.33_38dupGCTGCT",
"hgvs_p": "p.Leu12_Leu13dup",
"transcript": "ENST00000677934.1",
"protein_id": "ENSP00000504769.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 306,
"cds_start": 38,
"cds_end": null,
"cds_length": 921,
"cdna_start": 38,
"cdna_end": null,
"cdna_length": 1084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LLL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB1",
"gene_hgnc_id": 11766,
"hgvs_c": "c.33_38dupGCTGCT",
"hgvs_p": "p.Leu12_Leu13dup",
"transcript": "XM_011527242.3",
"protein_id": "XP_011525544.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 391,
"cds_start": 38,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 916,
"cdna_end": null,
"cdna_length": 2783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000255730",
"gene_hgnc_id": null,
"hgvs_c": "n.350+1808_350+1813dupAGCAGC",
"hgvs_p": null,
"transcript": "ENST00000604424.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TGFB1",
"gene_hgnc_id": 11766,
"dbsnp": "rs281865483",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.808,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP3",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000221930.6",
"gene_symbol": "TGFB1",
"hgnc_id": 11766,
"effects": [
"disruptive_inframe_insertion"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.33_38dupGCTGCT",
"hgvs_p": "p.Leu12_Leu13dup"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000539627.5",
"gene_symbol": "TMEM91",
"hgnc_id": 32393,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-30+1808_-30+1813dupAGCAGC",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000604424.1",
"gene_symbol": "ENSG00000255730",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.350+1808_350+1813dupAGCAGC",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}