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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: 1-234393474-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=234393474&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 234393474,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_005646.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARBP1",
"gene_hgnc_id": 11568,
"hgvs_c": "c.4448C>T",
"hgvs_p": "p.Thr1483Ile",
"transcript": "NM_005646.4",
"protein_id": "NP_005637.3",
"transcript_support_level": null,
"aa_start": 1483,
"aa_end": null,
"aa_length": 1621,
"cds_start": 4448,
"cds_end": null,
"cds_length": 4866,
"cdna_start": 4524,
"cdna_end": null,
"cdna_length": 5206,
"mane_select": "ENST00000040877.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARBP1",
"gene_hgnc_id": 11568,
"hgvs_c": "c.4448C>T",
"hgvs_p": "p.Thr1483Ile",
"transcript": "ENST00000040877.2",
"protein_id": "ENSP00000040877.1",
"transcript_support_level": 1,
"aa_start": 1483,
"aa_end": null,
"aa_length": 1621,
"cds_start": 4448,
"cds_end": null,
"cds_length": 4866,
"cdna_start": 4524,
"cdna_end": null,
"cdna_length": 5206,
"mane_select": "NM_005646.4",
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARBP1",
"gene_hgnc_id": 11568,
"hgvs_c": "n.1033C>T",
"hgvs_p": null,
"transcript": "ENST00000462259.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARBP1",
"gene_hgnc_id": 11568,
"hgvs_c": "c.4445C>T",
"hgvs_p": "p.Thr1482Ile",
"transcript": "XM_005273234.4",
"protein_id": "XP_005273291.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 1620,
"cds_start": 4445,
"cds_end": null,
"cds_length": 4863,
"cdna_start": 4521,
"cdna_end": null,
"cdna_length": 5203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARBP1",
"gene_hgnc_id": 11568,
"hgvs_c": "c.4376C>T",
"hgvs_p": "p.Thr1459Ile",
"transcript": "XM_011544263.3",
"protein_id": "XP_011542565.1",
"transcript_support_level": null,
"aa_start": 1459,
"aa_end": null,
"aa_length": 1597,
"cds_start": 4376,
"cds_end": null,
"cds_length": 4794,
"cdna_start": 4452,
"cdna_end": null,
"cdna_length": 5134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARBP1",
"gene_hgnc_id": 11568,
"hgvs_c": "c.4373C>T",
"hgvs_p": "p.Thr1458Ile",
"transcript": "XM_047429060.1",
"protein_id": "XP_047285016.1",
"transcript_support_level": null,
"aa_start": 1458,
"aa_end": null,
"aa_length": 1596,
"cds_start": 4373,
"cds_end": null,
"cds_length": 4791,
"cdna_start": 4449,
"cdna_end": null,
"cdna_length": 5131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARBP1",
"gene_hgnc_id": 11568,
"hgvs_c": "c.3080C>T",
"hgvs_p": "p.Thr1027Ile",
"transcript": "XM_047429080.1",
"protein_id": "XP_047285036.1",
"transcript_support_level": null,
"aa_start": 1027,
"aa_end": null,
"aa_length": 1165,
"cds_start": 3080,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 3148,
"cdna_end": null,
"cdna_length": 3830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARBP1",
"gene_hgnc_id": 11568,
"hgvs_c": "c.2219C>T",
"hgvs_p": "p.Thr740Ile",
"transcript": "XM_017002196.2",
"protein_id": "XP_016857685.1",
"transcript_support_level": null,
"aa_start": 740,
"aa_end": null,
"aa_length": 878,
"cds_start": 2219,
"cds_end": null,
"cds_length": 2637,
"cdna_start": 2294,
"cdna_end": null,
"cdna_length": 2976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARBP1",
"gene_hgnc_id": 11568,
"hgvs_c": "c.2057C>T",
"hgvs_p": "p.Thr686Ile",
"transcript": "XM_047429097.1",
"protein_id": "XP_047285053.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 824,
"cds_start": 2057,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 2133,
"cdna_end": null,
"cdna_length": 2815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARBP1",
"gene_hgnc_id": 11568,
"hgvs_c": "n.2426C>T",
"hgvs_p": null,
"transcript": "ENST00000483404.5",
"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": 3082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TARBP1",
"gene_hgnc_id": 11568,
"hgvs_c": "n.400+172C>T",
"hgvs_p": null,
"transcript": "ENST00000496673.5",
"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": 873,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARBP1",
"gene_hgnc_id": 11568,
"hgvs_c": "c.*274C>T",
"hgvs_p": null,
"transcript": "XM_047429061.1",
"protein_id": "XP_047285017.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1386,
"cds_start": -4,
"cds_end": null,
"cds_length": 4161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TARBP1",
"gene_hgnc_id": 11568,
"dbsnp": "rs1659609864",
"frequency_reference_population": 0.0000065743625,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657436,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9058228731155396,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.645,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9308,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.18,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.374,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.06,
"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": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005646.4",
"gene_symbol": "TARBP1",
"hgnc_id": 11568,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4448C>T",
"hgvs_p": "p.Thr1483Ile"
}
],
"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
}