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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: 1-153763296-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=153763296&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 153763296,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000318967.7",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS3",
"gene_hgnc_id": 26153,
"hgvs_c": "c.1700T>C",
"hgvs_p": "p.Ile567Thr",
"transcript": "NM_023015.5",
"protein_id": "NP_075391.3",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 1042,
"cds_start": 1700,
"cds_end": null,
"cds_length": 3129,
"cdna_start": 2285,
"cdna_end": null,
"cdna_length": 5252,
"mane_select": "ENST00000318967.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS3",
"gene_hgnc_id": 26153,
"hgvs_c": "c.1700T>C",
"hgvs_p": "p.Ile567Thr",
"transcript": "ENST00000318967.7",
"protein_id": "ENSP00000318641.2",
"transcript_support_level": 1,
"aa_start": 567,
"aa_end": null,
"aa_length": 1042,
"cds_start": 1700,
"cds_end": null,
"cds_length": 3129,
"cdna_start": 2285,
"cdna_end": null,
"cdna_length": 5252,
"mane_select": "NM_023015.5",
"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": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS3",
"gene_hgnc_id": 26153,
"hgvs_c": "n.*323T>C",
"hgvs_p": null,
"transcript": "ENST00000476843.5",
"protein_id": "ENSP00000485263.1",
"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": 3404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS3",
"gene_hgnc_id": 26153,
"hgvs_c": "n.*323T>C",
"hgvs_p": null,
"transcript": "ENST00000476843.5",
"protein_id": "ENSP00000485263.1",
"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": 3404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS3",
"gene_hgnc_id": 26153,
"hgvs_c": "c.1700T>C",
"hgvs_p": "p.Ile567Thr",
"transcript": "NM_001324475.2",
"protein_id": "NP_001311404.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 1042,
"cds_start": 1700,
"cds_end": null,
"cds_length": 3129,
"cdna_start": 1944,
"cdna_end": null,
"cdna_length": 4911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS3",
"gene_hgnc_id": 26153,
"hgvs_c": "c.1700T>C",
"hgvs_p": "p.Ile567Thr",
"transcript": "ENST00000435409.6",
"protein_id": "ENSP00000404290.2",
"transcript_support_level": 2,
"aa_start": 567,
"aa_end": null,
"aa_length": 1042,
"cds_start": 1700,
"cds_end": null,
"cds_length": 3129,
"cdna_start": 1903,
"cdna_end": null,
"cdna_length": 3597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS3",
"gene_hgnc_id": 26153,
"hgvs_c": "c.1082T>C",
"hgvs_p": "p.Ile361Thr",
"transcript": "ENST00000512605.4",
"protein_id": "ENSP00000425437.1",
"transcript_support_level": 2,
"aa_start": 361,
"aa_end": null,
"aa_length": 902,
"cds_start": 1082,
"cds_end": null,
"cds_length": 2709,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 3442,
"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": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS3",
"gene_hgnc_id": 26153,
"hgvs_c": "n.3503T>C",
"hgvs_p": null,
"transcript": "ENST00000481797.5",
"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": 5741,
"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": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS3",
"gene_hgnc_id": 26153,
"hgvs_c": "n.*270T>C",
"hgvs_p": null,
"transcript": "ENST00000503133.5",
"protein_id": "ENSP00000422616.1",
"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": 1896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS3",
"gene_hgnc_id": 26153,
"hgvs_c": "n.*270T>C",
"hgvs_p": null,
"transcript": "ENST00000503133.5",
"protein_id": "ENSP00000422616.1",
"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": 1896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "INTS3",
"gene_hgnc_id": 26153,
"dbsnp": "rs193920901",
"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": 0.25382131338119507,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.25,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.491,
"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": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000318967.7",
"gene_symbol": "INTS3",
"hgnc_id": 26153,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1700T>C",
"hgvs_p": "p.Ile567Thr"
}
],
"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
}