← 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: 10-49516282-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=49516282&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 49516282,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000355832.10",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6",
"gene_hgnc_id": 3438,
"hgvs_c": "c.2237G>A",
"hgvs_p": "p.Gly746Asp",
"transcript": "NM_001277058.2",
"protein_id": "NP_001263987.1",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 1061,
"cds_start": 2237,
"cds_end": null,
"cds_length": 3186,
"cdna_start": 2411,
"cdna_end": null,
"cdna_length": 3495,
"mane_select": null,
"mane_plus": "ENST00000447839.7",
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6",
"gene_hgnc_id": 3438,
"hgvs_c": "c.2237G>A",
"hgvs_p": "p.Gly746Asp",
"transcript": "ENST00000447839.7",
"protein_id": "ENSP00000387966.2",
"transcript_support_level": 2,
"aa_start": 746,
"aa_end": null,
"aa_length": 1061,
"cds_start": 2237,
"cds_end": null,
"cds_length": 3186,
"cdna_start": 2411,
"cdna_end": null,
"cdna_length": 3495,
"mane_select": null,
"mane_plus": "NM_001277058.2",
"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": 21,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ERCC6",
"gene_hgnc_id": 3438,
"hgvs_c": "c.1397+7751G>A",
"hgvs_p": null,
"transcript": "NM_000124.4",
"protein_id": "NP_000115.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1493,
"cds_start": -4,
"cds_end": null,
"cds_length": 4482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9001,
"mane_select": "ENST00000355832.10",
"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": 21,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ERCC6",
"gene_hgnc_id": 3438,
"hgvs_c": "c.1397+7751G>A",
"hgvs_p": null,
"transcript": "ENST00000355832.10",
"protein_id": "ENSP00000348089.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1493,
"cds_start": -4,
"cds_end": null,
"cds_length": 4482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9001,
"mane_select": "NM_000124.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6",
"gene_hgnc_id": 3438,
"hgvs_c": "c.2237G>A",
"hgvs_p": "p.Gly746Asp",
"transcript": "NM_001277059.2",
"protein_id": "NP_001263988.1",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 1061,
"cds_start": 2237,
"cds_end": null,
"cds_length": 3186,
"cdna_start": 2358,
"cdna_end": null,
"cdna_length": 3442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6",
"gene_hgnc_id": 3438,
"hgvs_c": "c.2237G>A",
"hgvs_p": "p.Gly746Asp",
"transcript": "ENST00000515869.1",
"protein_id": "ENSP00000423550.1",
"transcript_support_level": 2,
"aa_start": 746,
"aa_end": null,
"aa_length": 1061,
"cds_start": 2237,
"cds_end": null,
"cds_length": 3186,
"cdna_start": 2358,
"cdna_end": null,
"cdna_length": 3439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGBD3",
"gene_hgnc_id": 19400,
"hgvs_c": "c.833G>A",
"hgvs_p": "p.Gly278Asp",
"transcript": "NM_170753.3",
"protein_id": "NP_736609.2",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 593,
"cds_start": 833,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 1089,
"cdna_end": null,
"cdna_length": 2266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6",
"gene_hgnc_id": 3438,
"hgvs_c": "n.*1866G>A",
"hgvs_p": null,
"transcript": "ENST00000679596.1",
"protein_id": "ENSP00000504862.1",
"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": 3247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6",
"gene_hgnc_id": 3438,
"hgvs_c": "c.*817G>A",
"hgvs_p": null,
"transcript": "ENST00000680107.1",
"protein_id": "ENSP00000505909.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 224,
"cds_start": -4,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6",
"gene_hgnc_id": 3438,
"hgvs_c": "n.*1866G>A",
"hgvs_p": null,
"transcript": "ENST00000679596.1",
"protein_id": "ENSP00000504862.1",
"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": 3247,
"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": 21,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ERCC6",
"gene_hgnc_id": 3438,
"hgvs_c": "c.1397+7751G>A",
"hgvs_p": null,
"transcript": "NM_001346440.2",
"protein_id": "NP_001333369.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1493,
"cds_start": -4,
"cds_end": null,
"cds_length": 4482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 28586,
"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": 20,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ERCC6",
"gene_hgnc_id": 3438,
"hgvs_c": "c.1397+7751G>A",
"hgvs_p": null,
"transcript": "ENST00000681659.1",
"protein_id": "ENSP00000505631.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1440,
"cds_start": -4,
"cds_end": null,
"cds_length": 4323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ERCC6",
"gene_hgnc_id": 3438,
"hgvs_c": "n.1480+7751G>A",
"hgvs_p": null,
"transcript": "ENST00000679811.1",
"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": 2501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ERCC6",
"gene_hgnc_id": 3438,
"hgvs_c": "n.1475+7751G>A",
"hgvs_p": null,
"transcript": "ENST00000681632.1",
"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": 10532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ERCC6",
"gene_hgnc_id": 3438,
"dbsnp": "rs878854403",
"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": 0.5135367512702942,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.187,
"revel_prediction": "Benign",
"alphamissense_score": 0.9132,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.623,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP5",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000355832.10",
"gene_symbol": "ERCC6",
"hgnc_id": 3438,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.1397+7751G>A",
"hgvs_p": null
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_170753.3",
"gene_symbol": "PGBD3",
"hgnc_id": 19400,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.833G>A",
"hgvs_p": "p.Gly278Asp"
}
],
"clinvar_disease": "Premature ovarian failure 11",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Premature ovarian failure 11",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}