← Back to variant description
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: 8-94827759-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=94827759&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 94827759,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_017864.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS8",
"gene_hgnc_id": 26048,
"hgvs_c": "c.484A>C",
"hgvs_p": "p.Lys162Gln",
"transcript": "NM_017864.4",
"protein_id": "NP_060334.2",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 995,
"cds_start": 484,
"cds_end": null,
"cds_length": 2988,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000523731.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017864.4"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS8",
"gene_hgnc_id": 26048,
"hgvs_c": "c.484A>C",
"hgvs_p": "p.Lys162Gln",
"transcript": "ENST00000523731.6",
"protein_id": "ENSP00000430338.1",
"transcript_support_level": 1,
"aa_start": 162,
"aa_end": null,
"aa_length": 995,
"cds_start": 484,
"cds_end": null,
"cds_length": 2988,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017864.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523731.6"
},
{
"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": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS8",
"gene_hgnc_id": 26048,
"hgvs_c": "n.484A>C",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000343161.8"
},
{
"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": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS8",
"gene_hgnc_id": 26048,
"hgvs_c": "n.484A>C",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000523206.5"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS8",
"gene_hgnc_id": 26048,
"hgvs_c": "c.529A>C",
"hgvs_p": "p.Lys177Gln",
"transcript": "ENST00000715987.1",
"protein_id": "ENSP00000520549.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 1010,
"cds_start": 529,
"cds_end": null,
"cds_length": 3033,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000715987.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS8",
"gene_hgnc_id": 26048,
"hgvs_c": "c.361A>C",
"hgvs_p": "p.Lys121Gln",
"transcript": "ENST00000522171.5",
"protein_id": "ENSP00000429340.1",
"transcript_support_level": 5,
"aa_start": 121,
"aa_end": null,
"aa_length": 203,
"cds_start": 361,
"cds_end": null,
"cds_length": 614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522171.5"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS8",
"gene_hgnc_id": 26048,
"hgvs_c": "c.445A>C",
"hgvs_p": "p.Lys149Gln",
"transcript": "ENST00000521860.5",
"protein_id": "ENSP00000430049.1",
"transcript_support_level": 5,
"aa_start": 149,
"aa_end": null,
"aa_length": 181,
"cds_start": 445,
"cds_end": null,
"cds_length": 547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521860.5"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS8",
"gene_hgnc_id": 26048,
"hgvs_c": "c.343A>C",
"hgvs_p": "p.Lys115Gln",
"transcript": "ENST00000519457.5",
"protein_id": "ENSP00000428260.1",
"transcript_support_level": 5,
"aa_start": 115,
"aa_end": null,
"aa_length": 145,
"cds_start": 343,
"cds_end": null,
"cds_length": 439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519457.5"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS8",
"gene_hgnc_id": 26048,
"hgvs_c": "c.157A>C",
"hgvs_p": "p.Lys53Gln",
"transcript": "ENST00000519053.5",
"protein_id": "ENSP00000429056.1",
"transcript_support_level": 4,
"aa_start": 53,
"aa_end": null,
"aa_length": 93,
"cds_start": 157,
"cds_end": null,
"cds_length": 283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519053.5"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS8",
"gene_hgnc_id": 26048,
"hgvs_c": "c.484A>C",
"hgvs_p": "p.Lys162Gln",
"transcript": "XM_047421951.1",
"protein_id": "XP_047277907.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 834,
"cds_start": 484,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421951.1"
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS8",
"gene_hgnc_id": 26048,
"hgvs_c": "n.609A>C",
"hgvs_p": null,
"transcript": "ENST00000523321.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000523321.5"
},
{
"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": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS8",
"gene_hgnc_id": 26048,
"hgvs_c": "n.484A>C",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000524333.5"
},
{
"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": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS8",
"gene_hgnc_id": 26048,
"hgvs_c": "n.629A>C",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_073444.2"
},
{
"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": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS8",
"gene_hgnc_id": 26048,
"hgvs_c": "n.629A>C",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_073445.2"
}
],
"gene_symbol": "INTS8",
"gene_hgnc_id": 26048,
"dbsnp": "rs796052157",
"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": 0.3773987591266632,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.15000000596046448,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.29,
"revel_prediction": "Benign",
"alphamissense_score": 0.3795,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.911,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.15,
"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,BP6",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4",
"BP6"
],
"verdict": "Uncertain_significance",
"transcript": "NM_017864.4",
"gene_symbol": "INTS8",
"hgnc_id": 26048,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AR",
"hgvs_c": "c.484A>C",
"hgvs_p": "p.Lys162Gln"
}
],
"clinvar_disease": "Long QT syndrome",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Long QT syndrome",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}