← 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: 1-8429242-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=8429242&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 8429242,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000400908.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "RERE",
"gene_hgnc_id": 9965,
"hgvs_c": "c.1204-6435G>T",
"hgvs_p": null,
"transcript": "NM_001042681.2",
"protein_id": "NP_001036146.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1566,
"cds_start": -4,
"cds_end": null,
"cds_length": 4701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8009,
"mane_select": "ENST00000400908.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "RERE",
"gene_hgnc_id": 9965,
"hgvs_c": "c.1204-6435G>T",
"hgvs_p": null,
"transcript": "ENST00000400908.7",
"protein_id": "ENSP00000383700.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1566,
"cds_start": -4,
"cds_end": null,
"cds_length": 4701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8009,
"mane_select": "NM_001042681.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "RERE",
"gene_hgnc_id": 9965,
"hgvs_c": "c.1204-6435G>T",
"hgvs_p": null,
"transcript": "ENST00000337907.7",
"protein_id": "ENSP00000338629.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1566,
"cds_start": -4,
"cds_end": null,
"cds_length": 4701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "RERE",
"gene_hgnc_id": 9965,
"hgvs_c": "c.1204-6435G>T",
"hgvs_p": null,
"transcript": "NM_012102.4",
"protein_id": "NP_036234.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1566,
"cds_start": -4,
"cds_end": null,
"cds_length": 4701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RERE",
"gene_hgnc_id": 9965,
"hgvs_c": "c.400-6435G>T",
"hgvs_p": null,
"transcript": "ENST00000377464.5",
"protein_id": "ENSP00000366684.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1298,
"cds_start": -4,
"cds_end": null,
"cds_length": 3897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "RERE",
"gene_hgnc_id": 9965,
"hgvs_c": "c.1204-6435G>T",
"hgvs_p": null,
"transcript": "ENST00000656437.1",
"protein_id": "ENSP00000499322.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 782,
"cds_start": -4,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "RERE",
"gene_hgnc_id": 9965,
"hgvs_c": "c.1204-6435G>T",
"hgvs_p": null,
"transcript": "ENST00000400907.6",
"protein_id": "ENSP00000383699.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 584,
"cds_start": -4,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RERE",
"gene_hgnc_id": 9965,
"hgvs_c": "c.250-6435G>T",
"hgvs_p": null,
"transcript": "ENST00000464972.5",
"protein_id": "ENSP00000464712.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 88,
"cds_start": -4,
"cds_end": null,
"cds_length": 267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 743,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RERE-AS1",
"gene_hgnc_id": 40501,
"hgvs_c": "n.225-585C>A",
"hgvs_p": null,
"transcript": "ENST00000444276.1",
"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": 439,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RERE-AS1",
"gene_hgnc_id": 40501,
"hgvs_c": "n.165-585C>A",
"hgvs_p": null,
"transcript": "ENST00000449895.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 516,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RERE-AS1",
"gene_hgnc_id": 40501,
"hgvs_c": "n.463-585C>A",
"hgvs_p": null,
"transcript": "ENST00000653698.1",
"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": 1052,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RERE-AS1",
"gene_hgnc_id": 40501,
"hgvs_c": "n.165-585C>A",
"hgvs_p": null,
"transcript": "NR_125999.1",
"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": 694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RERE",
"gene_hgnc_id": 9965,
"dbsnp": "rs301799",
"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": -0.8999999761581421,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.157,
"phylop100way_prediction": "Benign",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000400908.7",
"gene_symbol": "RERE",
"hgnc_id": 9965,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1204-6435G>T",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000444276.1",
"gene_symbol": "RERE-AS1",
"hgnc_id": 40501,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.225-585C>A",
"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
}