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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: 13-102854340-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=102854340&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 102854340,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000652225.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC5",
"gene_hgnc_id": 3437,
"hgvs_c": "c.433G>A",
"hgvs_p": "p.Val145Ile",
"transcript": "NM_000123.4",
"protein_id": "NP_000114.3",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 1186,
"cds_start": 433,
"cds_end": null,
"cds_length": 3561,
"cdna_start": 668,
"cdna_end": null,
"cdna_length": 3888,
"mane_select": "ENST00000652225.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC5",
"gene_hgnc_id": 3437,
"hgvs_c": "c.433G>A",
"hgvs_p": "p.Val145Ile",
"transcript": "ENST00000652225.2",
"protein_id": "ENSP00000498881.2",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 1186,
"cds_start": 433,
"cds_end": null,
"cds_length": 3561,
"cdna_start": 668,
"cdna_end": null,
"cdna_length": 3888,
"mane_select": "NM_000123.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIVM-ERCC5",
"gene_hgnc_id": 43690,
"hgvs_c": "c.1795G>A",
"hgvs_p": "p.Val599Ile",
"transcript": "ENST00000639435.1",
"protein_id": "ENSP00000491742.1",
"transcript_support_level": 5,
"aa_start": 599,
"aa_end": null,
"aa_length": 1640,
"cds_start": 1795,
"cds_end": null,
"cds_length": 4923,
"cdna_start": 2413,
"cdna_end": null,
"cdna_length": 5632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIVM-ERCC5",
"gene_hgnc_id": 43690,
"hgvs_c": "c.1108G>A",
"hgvs_p": "p.Val370Ile",
"transcript": "ENST00000639132.1",
"protein_id": "ENSP00000492684.1",
"transcript_support_level": 5,
"aa_start": 370,
"aa_end": null,
"aa_length": 1411,
"cds_start": 1108,
"cds_end": null,
"cds_length": 4236,
"cdna_start": 1979,
"cdna_end": null,
"cdna_length": 5195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIVM-ERCC5",
"gene_hgnc_id": 43690,
"hgvs_c": "c.1795G>A",
"hgvs_p": "p.Val599Ile",
"transcript": "NM_001204425.2",
"protein_id": "NP_001191354.2",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 1640,
"cds_start": 1795,
"cds_end": null,
"cds_length": 4923,
"cdna_start": 1917,
"cdna_end": null,
"cdna_length": 5137,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC5",
"gene_hgnc_id": 3437,
"hgvs_c": "n.859G>A",
"hgvs_p": null,
"transcript": "ENST00000535557.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 1125,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIVM-ERCC5",
"gene_hgnc_id": 43690,
"hgvs_c": "n.*131G>A",
"hgvs_p": null,
"transcript": "ENST00000638434.1",
"protein_id": "ENSP00000492455.1",
"transcript_support_level": 5,
"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": 615,
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC5",
"gene_hgnc_id": 3437,
"hgvs_c": "n.*194G>A",
"hgvs_p": null,
"transcript": "ENST00000651002.1",
"protein_id": "ENSP00000498809.1",
"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": 4221,
"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": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC5",
"gene_hgnc_id": 3437,
"hgvs_c": "n.562G>A",
"hgvs_p": null,
"transcript": "ENST00000651055.1",
"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": 3723,
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC5",
"gene_hgnc_id": 3437,
"hgvs_c": "n.801G>A",
"hgvs_p": null,
"transcript": "ENST00000651281.1",
"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": 3994,
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC5",
"gene_hgnc_id": 3437,
"hgvs_c": "n.433G>A",
"hgvs_p": null,
"transcript": "ENST00000651470.1",
"protein_id": "ENSP00000498701.1",
"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": 3495,
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC5",
"gene_hgnc_id": 3437,
"hgvs_c": "n.674G>A",
"hgvs_p": null,
"transcript": "ENST00000682632.1",
"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": 4733,
"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": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC5",
"gene_hgnc_id": 3437,
"hgvs_c": "n.1082G>A",
"hgvs_p": null,
"transcript": "ENST00000682869.1",
"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": 4279,
"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": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC5",
"gene_hgnc_id": 3437,
"hgvs_c": "n.1210G>A",
"hgvs_p": null,
"transcript": "ENST00000683246.1",
"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": 5269,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC5",
"gene_hgnc_id": 3437,
"hgvs_c": "n.1079G>A",
"hgvs_p": null,
"transcript": "ENST00000684184.1",
"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": 2774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC5",
"gene_hgnc_id": 3437,
"hgvs_c": "c.-72G>A",
"hgvs_p": null,
"transcript": "ENST00000652613.1",
"protein_id": "ENSP00000498357.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1018,
"cds_start": -4,
"cds_end": null,
"cds_length": 3057,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4024,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIVM-ERCC5",
"gene_hgnc_id": 43690,
"hgvs_c": "n.*131G>A",
"hgvs_p": null,
"transcript": "ENST00000638434.1",
"protein_id": "ENSP00000492455.1",
"transcript_support_level": 5,
"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": 615,
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC5",
"gene_hgnc_id": 3437,
"hgvs_c": "n.*194G>A",
"hgvs_p": null,
"transcript": "ENST00000651002.1",
"protein_id": "ENSP00000498809.1",
"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": 4221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ERCC5",
"gene_hgnc_id": 3437,
"dbsnp": "rs4987063",
"frequency_reference_population": 0.0011765027,
"hom_count_reference_population": 28,
"allele_count_reference_population": 1899,
"gnomad_exomes_af": 0.000638218,
"gnomad_genomes_af": 0.00634591,
"gnomad_exomes_ac": 933,
"gnomad_genomes_ac": 966,
"gnomad_exomes_homalt": 15,
"gnomad_genomes_homalt": 13,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.006266981363296509,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.043,
"revel_prediction": "Benign",
"alphamissense_score": 0.0865,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.092,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000652225.2",
"gene_symbol": "ERCC5",
"hgnc_id": 3437,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.433G>A",
"hgvs_p": "p.Val145Ile"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000639435.1",
"gene_symbol": "BIVM-ERCC5",
"hgnc_id": 43690,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1795G>A",
"hgvs_p": "p.Val599Ile"
}
],
"clinvar_disease": " group G,Xeroderma pigmentosum,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:2 O:1",
"phenotype_combined": "not specified|not provided|Xeroderma pigmentosum, group G",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}