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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: 8-94824926-TG-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=94824926&ref=TG&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 94824926,
"ref": "TG",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "ENST00000523731.6",
"consequences": [
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS8",
"gene_hgnc_id": 26048,
"hgvs_c": "c.166delG",
"hgvs_p": "p.Glu56fs",
"transcript": "NM_017864.4",
"protein_id": "NP_060334.2",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 995,
"cds_start": 166,
"cds_end": null,
"cds_length": 2988,
"cdna_start": 311,
"cdna_end": null,
"cdna_length": 4645,
"mane_select": "ENST00000523731.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS8",
"gene_hgnc_id": 26048,
"hgvs_c": "c.166delG",
"hgvs_p": "p.Glu56fs",
"transcript": "ENST00000523731.6",
"protein_id": "ENSP00000430338.1",
"transcript_support_level": 1,
"aa_start": 56,
"aa_end": null,
"aa_length": 995,
"cds_start": 166,
"cds_end": null,
"cds_length": 2988,
"cdna_start": 311,
"cdna_end": null,
"cdna_length": 4645,
"mane_select": "NM_017864.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS8",
"gene_hgnc_id": 26048,
"hgvs_c": "n.166delG",
"hgvs_p": null,
"transcript": "ENST00000343161.8",
"protein_id": "ENSP00000343274.4",
"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": 3434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS8",
"gene_hgnc_id": 26048,
"hgvs_c": "n.166delG",
"hgvs_p": null,
"transcript": "ENST00000523206.5",
"protein_id": "ENSP00000429452.1",
"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": 3351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS8",
"gene_hgnc_id": 26048,
"hgvs_c": "c.211delG",
"hgvs_p": "p.Glu71fs",
"transcript": "ENST00000715987.1",
"protein_id": "ENSP00000520549.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 1010,
"cds_start": 211,
"cds_end": null,
"cds_length": 3033,
"cdna_start": 311,
"cdna_end": null,
"cdna_length": 4645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS8",
"gene_hgnc_id": 26048,
"hgvs_c": "c.43delG",
"hgvs_p": "p.Glu15fs",
"transcript": "ENST00000522171.5",
"protein_id": "ENSP00000429340.1",
"transcript_support_level": 5,
"aa_start": 15,
"aa_end": null,
"aa_length": 203,
"cds_start": 43,
"cds_end": null,
"cds_length": 614,
"cdna_start": 164,
"cdna_end": null,
"cdna_length": 735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS8",
"gene_hgnc_id": 26048,
"hgvs_c": "c.358delG",
"hgvs_p": "p.Glu120fs",
"transcript": "ENST00000523808.5",
"protein_id": "ENSP00000430033.1",
"transcript_support_level": 4,
"aa_start": 120,
"aa_end": null,
"aa_length": 195,
"cds_start": 358,
"cds_end": null,
"cds_length": 588,
"cdna_start": 367,
"cdna_end": null,
"cdna_length": 597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS8",
"gene_hgnc_id": 26048,
"hgvs_c": "c.127delG",
"hgvs_p": "p.Glu43fs",
"transcript": "ENST00000521860.5",
"protein_id": "ENSP00000430049.1",
"transcript_support_level": 5,
"aa_start": 43,
"aa_end": null,
"aa_length": 181,
"cds_start": 127,
"cds_end": null,
"cds_length": 547,
"cdna_start": 128,
"cdna_end": null,
"cdna_length": 548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS8",
"gene_hgnc_id": 26048,
"hgvs_c": "c.166delG",
"hgvs_p": "p.Glu56fs",
"transcript": "ENST00000519457.5",
"protein_id": "ENSP00000428260.1",
"transcript_support_level": 5,
"aa_start": 56,
"aa_end": null,
"aa_length": 145,
"cds_start": 166,
"cds_end": null,
"cds_length": 439,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS8",
"gene_hgnc_id": 26048,
"hgvs_c": "c.166delG",
"hgvs_p": "p.Glu56fs",
"transcript": "XM_047421951.1",
"protein_id": "XP_047277907.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 834,
"cds_start": 166,
"cds_end": null,
"cds_length": 2505,
"cdna_start": 311,
"cdna_end": null,
"cdna_length": 4162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS8",
"gene_hgnc_id": 26048,
"hgvs_c": "n.291delG",
"hgvs_p": null,
"transcript": "ENST00000523321.5",
"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": 2916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS8",
"gene_hgnc_id": 26048,
"hgvs_c": "n.166delG",
"hgvs_p": null,
"transcript": "ENST00000524333.5",
"protein_id": "ENSP00000427840.1",
"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": 3272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS8",
"gene_hgnc_id": 26048,
"hgvs_c": "n.311delG",
"hgvs_p": null,
"transcript": "NR_073444.2",
"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": 4819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS8",
"gene_hgnc_id": 26048,
"hgvs_c": "n.311delG",
"hgvs_p": null,
"transcript": "NR_073445.2",
"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": 4736,
"mane_select": null,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "INTS8",
"gene_hgnc_id": 26048,
"hgvs_c": "c.-23+1367delG",
"hgvs_p": null,
"transcript": "ENST00000519053.5",
"protein_id": "ENSP00000429056.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 93,
"cds_start": -4,
"cds_end": null,
"cds_length": 283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "INTS8",
"gene_hgnc_id": 26048,
"dbsnp": "rs193920861",
"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": 0.25999999046325684,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 3.966,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.26,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000523731.6",
"gene_symbol": "INTS8",
"hgnc_id": 26048,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "Unknown,AR",
"hgvs_c": "c.166delG",
"hgvs_p": "p.Glu56fs"
}
],
"clinvar_disease": "Prostate cancer",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Prostate cancer",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}