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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: 13-102872283-C-CA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=102872283&ref=C&alt=CA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 102872283,
"ref": "C",
"alt": "CA",
"effect": "frameshift_variant",
"transcript": "NM_001204425.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC5",
"gene_hgnc_id": 3437,
"hgvs_c": "c.2766dupA",
"hgvs_p": "p.Leu923fs",
"transcript": "NM_000123.4",
"protein_id": "NP_000114.3",
"transcript_support_level": null,
"aa_start": 923,
"aa_end": null,
"aa_length": 1186,
"cds_start": 2767,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000652225.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000123.4"
},
{
"aa_ref": "L",
"aa_alt": "T?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC5",
"gene_hgnc_id": 3437,
"hgvs_c": "c.2766dupA",
"hgvs_p": "p.Leu923fs",
"transcript": "ENST00000652225.2",
"protein_id": "ENSP00000498881.2",
"transcript_support_level": null,
"aa_start": 923,
"aa_end": null,
"aa_length": 1186,
"cds_start": 2767,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000123.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652225.2"
},
{
"aa_ref": "L",
"aa_alt": "T?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"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.4128dupA",
"hgvs_p": "p.Leu1377fs",
"transcript": "ENST00000639435.1",
"protein_id": "ENSP00000491742.1",
"transcript_support_level": 5,
"aa_start": 1377,
"aa_end": null,
"aa_length": 1640,
"cds_start": 4129,
"cds_end": null,
"cds_length": 4923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639435.1"
},
{
"aa_ref": "L",
"aa_alt": "T?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"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.3441dupA",
"hgvs_p": "p.Leu1148fs",
"transcript": "ENST00000639132.1",
"protein_id": "ENSP00000492684.1",
"transcript_support_level": 5,
"aa_start": 1148,
"aa_end": null,
"aa_length": 1411,
"cds_start": 3442,
"cds_end": null,
"cds_length": 4236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639132.1"
},
{
"aa_ref": "L",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"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.4128dupA",
"hgvs_p": "p.Leu1377fs",
"transcript": "NM_001204425.2",
"protein_id": "NP_001191354.2",
"transcript_support_level": null,
"aa_start": 1377,
"aa_end": null,
"aa_length": 1640,
"cds_start": 4129,
"cds_end": null,
"cds_length": 4923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204425.2"
},
{
"aa_ref": "L",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC5",
"gene_hgnc_id": 3437,
"hgvs_c": "c.2763dupA",
"hgvs_p": "p.Leu922fs",
"transcript": "ENST00000958785.1",
"protein_id": "ENSP00000628844.1",
"transcript_support_level": null,
"aa_start": 922,
"aa_end": null,
"aa_length": 1185,
"cds_start": 2764,
"cds_end": null,
"cds_length": 3558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958785.1"
},
{
"aa_ref": "L",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC5",
"gene_hgnc_id": 3437,
"hgvs_c": "c.2763dupA",
"hgvs_p": "p.Leu922fs",
"transcript": "ENST00000958786.1",
"protein_id": "ENSP00000628845.1",
"transcript_support_level": null,
"aa_start": 922,
"aa_end": null,
"aa_length": 1185,
"cds_start": 2764,
"cds_end": null,
"cds_length": 3558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958786.1"
},
{
"aa_ref": "L",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC5",
"gene_hgnc_id": 3437,
"hgvs_c": "c.2685dupA",
"hgvs_p": "p.Leu896fs",
"transcript": "ENST00000872814.1",
"protein_id": "ENSP00000542873.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 1159,
"cds_start": 2686,
"cds_end": null,
"cds_length": 3480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872814.1"
},
{
"aa_ref": "L",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC5",
"gene_hgnc_id": 3437,
"hgvs_c": "c.2262dupA",
"hgvs_p": "p.Leu755fs",
"transcript": "ENST00000652613.1",
"protein_id": "ENSP00000498357.1",
"transcript_support_level": null,
"aa_start": 755,
"aa_end": null,
"aa_length": 1018,
"cds_start": 2263,
"cds_end": null,
"cds_length": 3057,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652613.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC5",
"gene_hgnc_id": 3437,
"hgvs_c": "n.2111dupA",
"hgvs_p": null,
"transcript": "ENST00000375954.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000375954.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC5",
"gene_hgnc_id": 3437,
"hgvs_c": "n.*2527dupA",
"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": 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": "ENST00000651002.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC5",
"gene_hgnc_id": 3437,
"hgvs_c": "n.2895dupA",
"hgvs_p": null,
"transcript": "ENST00000651055.1",
"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": "ENST00000651055.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC5",
"gene_hgnc_id": 3437,
"hgvs_c": "n.3134dupA",
"hgvs_p": null,
"transcript": "ENST00000651281.1",
"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": "retained_intron",
"feature": "ENST00000651281.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC5",
"gene_hgnc_id": 3437,
"hgvs_c": "n.2250dupA",
"hgvs_p": null,
"transcript": "ENST00000651387.1",
"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": "ENST00000651387.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC5",
"gene_hgnc_id": 3437,
"hgvs_c": "n.3007dupA",
"hgvs_p": null,
"transcript": "ENST00000682632.1",
"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": "retained_intron",
"feature": "ENST00000682632.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC5",
"gene_hgnc_id": 3437,
"hgvs_c": "n.3415dupA",
"hgvs_p": null,
"transcript": "ENST00000682869.1",
"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": "retained_intron",
"feature": "ENST00000682869.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC5",
"gene_hgnc_id": 3437,
"hgvs_c": "n.3543dupA",
"hgvs_p": null,
"transcript": "ENST00000683246.1",
"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": "retained_intron",
"feature": "ENST00000683246.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC5",
"gene_hgnc_id": 3437,
"hgvs_c": "n.2136dupA",
"hgvs_p": null,
"transcript": "ENST00000683642.1",
"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": "retained_intron",
"feature": "ENST00000683642.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC5",
"gene_hgnc_id": 3437,
"hgvs_c": "n.*2527dupA",
"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": 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": "ENST00000651002.1"
},
{
"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": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ERCC5",
"gene_hgnc_id": 3437,
"hgvs_c": "n.2679-26dupA",
"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": 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": "ENST00000651470.1"
}
],
"gene_symbol": "BIVM-ERCC5",
"gene_hgnc_id": 43690,
"dbsnp": "rs760232640",
"frequency_reference_population": 0.000017348053,
"hom_count_reference_population": 0,
"allele_count_reference_population": 28,
"gnomad_exomes_af": 0.0000184693,
"gnomad_genomes_af": 0.0000065735,
"gnomad_exomes_ac": 27,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 6.051,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Moderate",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_001204425.2",
"gene_symbol": "BIVM-ERCC5",
"hgnc_id": 43690,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.4128dupA",
"hgvs_p": "p.Leu1377fs"
},
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_000123.4",
"gene_symbol": "ERCC5",
"hgnc_id": 3437,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2766dupA",
"hgvs_p": "p.Leu923fs"
}
],
"clinvar_disease": "Cerebrooculofacioskeletal syndrome 3",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Cerebrooculofacioskeletal syndrome 3",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}