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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: 1-8355557-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=8355557&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 8355557,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000400908.7",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RERE",
"gene_hgnc_id": 9965,
"hgvs_c": "c.4529C>T",
"hgvs_p": "p.Pro1510Leu",
"transcript": "NM_001042681.2",
"protein_id": "NP_001036146.1",
"transcript_support_level": null,
"aa_start": 1510,
"aa_end": null,
"aa_length": 1566,
"cds_start": 4529,
"cds_end": null,
"cds_length": 4701,
"cdna_start": 5154,
"cdna_end": null,
"cdna_length": 8009,
"mane_select": "ENST00000400908.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RERE",
"gene_hgnc_id": 9965,
"hgvs_c": "c.4529C>T",
"hgvs_p": "p.Pro1510Leu",
"transcript": "ENST00000400908.7",
"protein_id": "ENSP00000383700.2",
"transcript_support_level": 1,
"aa_start": 1510,
"aa_end": null,
"aa_length": 1566,
"cds_start": 4529,
"cds_end": null,
"cds_length": 4701,
"cdna_start": 5154,
"cdna_end": null,
"cdna_length": 8009,
"mane_select": "NM_001042681.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RERE",
"gene_hgnc_id": 9965,
"hgvs_c": "c.4529C>T",
"hgvs_p": "p.Pro1510Leu",
"transcript": "ENST00000337907.7",
"protein_id": "ENSP00000338629.3",
"transcript_support_level": 1,
"aa_start": 1510,
"aa_end": null,
"aa_length": 1566,
"cds_start": 4529,
"cds_end": null,
"cds_length": 4701,
"cdna_start": 5164,
"cdna_end": null,
"cdna_length": 8026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RERE",
"gene_hgnc_id": 9965,
"hgvs_c": "c.2867C>T",
"hgvs_p": "p.Pro956Leu",
"transcript": "ENST00000476556.5",
"protein_id": "ENSP00000422246.1",
"transcript_support_level": 1,
"aa_start": 956,
"aa_end": null,
"aa_length": 1012,
"cds_start": 2867,
"cds_end": null,
"cds_length": 3039,
"cdna_start": 3432,
"cdna_end": null,
"cdna_length": 4598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RERE",
"gene_hgnc_id": 9965,
"hgvs_c": "c.4529C>T",
"hgvs_p": "p.Pro1510Leu",
"transcript": "NM_012102.4",
"protein_id": "NP_036234.3",
"transcript_support_level": null,
"aa_start": 1510,
"aa_end": null,
"aa_length": 1566,
"cds_start": 4529,
"cds_end": null,
"cds_length": 4701,
"cdna_start": 5339,
"cdna_end": null,
"cdna_length": 8194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RERE",
"gene_hgnc_id": 9965,
"hgvs_c": "c.3725C>T",
"hgvs_p": "p.Pro1242Leu",
"transcript": "ENST00000377464.5",
"protein_id": "ENSP00000366684.1",
"transcript_support_level": 5,
"aa_start": 1242,
"aa_end": null,
"aa_length": 1298,
"cds_start": 3725,
"cds_end": null,
"cds_length": 3897,
"cdna_start": 3880,
"cdna_end": null,
"cdna_length": 6733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RERE",
"gene_hgnc_id": 9965,
"hgvs_c": "c.2867C>T",
"hgvs_p": "p.Pro956Leu",
"transcript": "NM_001042682.2",
"protein_id": "NP_001036147.1",
"transcript_support_level": null,
"aa_start": 956,
"aa_end": null,
"aa_length": 1012,
"cds_start": 2867,
"cds_end": null,
"cds_length": 3039,
"cdna_start": 3598,
"cdna_end": null,
"cdna_length": 6453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RERE",
"gene_hgnc_id": 9965,
"hgvs_c": "c.2867C>T",
"hgvs_p": "p.Pro956Leu",
"transcript": "ENST00000465125.2",
"protein_id": "ENSP00000515651.1",
"transcript_support_level": 5,
"aa_start": 956,
"aa_end": null,
"aa_length": 1012,
"cds_start": 2867,
"cds_end": null,
"cds_length": 3039,
"cdna_start": 3546,
"cdna_end": null,
"cdna_length": 6395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RERE",
"gene_hgnc_id": 9965,
"hgvs_c": "c.1583C>T",
"hgvs_p": "p.Pro528Leu",
"transcript": "ENST00000400907.6",
"protein_id": "ENSP00000383699.2",
"transcript_support_level": 5,
"aa_start": 528,
"aa_end": null,
"aa_length": 584,
"cds_start": 1583,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 1657,
"cdna_end": null,
"cdna_length": 2973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RERE",
"gene_hgnc_id": 9965,
"hgvs_c": "c.497C>T",
"hgvs_p": "p.Pro166Leu",
"transcript": "ENST00000505225.1",
"protein_id": "ENSP00000423451.1",
"transcript_support_level": 2,
"aa_start": 166,
"aa_end": null,
"aa_length": 176,
"cds_start": 497,
"cds_end": null,
"cds_length": 533,
"cdna_start": 497,
"cdna_end": null,
"cdna_length": 533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RERE",
"gene_hgnc_id": 9965,
"dbsnp": "rs1553153672",
"frequency_reference_population": 6.8831366e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.88314e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7649290561676025,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.357,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2953,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.675,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.07,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000400908.7",
"gene_symbol": "RERE",
"hgnc_id": 9965,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4529C>T",
"hgvs_p": "p.Pro1510Leu"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}