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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: 13-102875580-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=102875580&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1_Moderate",
"PS3",
"PP5"
],
"effects": [
"stop_gained"
],
"gene_symbol": "BIVM-ERCC5",
"hgnc_id": 43690,
"hgvs_c": "c.4600G>T",
"hgvs_p": "p.Gly1534*",
"inheritance_mode": "",
"pathogenic_score": 7,
"score": 7,
"transcript": "NM_001204425.2",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PVS1_Moderate",
"PS3",
"PP5"
],
"effects": [
"stop_gained"
],
"gene_symbol": "ERCC5",
"hgnc_id": 3437,
"hgvs_c": "c.3238G>T",
"hgvs_p": "p.Gly1080*",
"inheritance_mode": "AR",
"pathogenic_score": 7,
"score": 7,
"transcript": "NM_000123.4",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Moderate,PS3,PP5",
"acmg_score": 7,
"allele_count_reference_population": 101,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.27,
"chr": "13",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": " group G,Xeroderma pigmentosum,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:2 US:3",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.27000001072883606,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1186,
"aa_ref": "G",
"aa_start": 1080,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3888,
"cdna_start": 3473,
"cds_end": null,
"cds_length": 3561,
"cds_start": 3238,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_000123.4",
"gene_hgnc_id": 3437,
"gene_symbol": "ERCC5",
"hgvs_c": "c.3238G>T",
"hgvs_p": "p.Gly1080*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000652225.2",
"protein_coding": true,
"protein_id": "NP_000114.3",
"strand": true,
"transcript": "NM_000123.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1186,
"aa_ref": "G",
"aa_start": 1080,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3888,
"cdna_start": 3473,
"cds_end": null,
"cds_length": 3561,
"cds_start": 3238,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000652225.2",
"gene_hgnc_id": 3437,
"gene_symbol": "ERCC5",
"hgvs_c": "c.3238G>T",
"hgvs_p": "p.Gly1080*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000123.4",
"protein_coding": true,
"protein_id": "ENSP00000498881.2",
"strand": true,
"transcript": "ENST00000652225.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1640,
"aa_ref": "G",
"aa_start": 1534,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5632,
"cdna_start": 5218,
"cds_end": null,
"cds_length": 4923,
"cds_start": 4600,
"consequences": [
"stop_gained"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000639435.1",
"gene_hgnc_id": 43690,
"gene_symbol": "BIVM-ERCC5",
"hgvs_c": "c.4600G>T",
"hgvs_p": "p.Gly1534*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491742.1",
"strand": true,
"transcript": "ENST00000639435.1",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1411,
"aa_ref": "G",
"aa_start": 1305,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5195,
"cdna_start": 4784,
"cds_end": null,
"cds_length": 4236,
"cds_start": 3913,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000639132.1",
"gene_hgnc_id": 43690,
"gene_symbol": "BIVM-ERCC5",
"hgvs_c": "c.3913G>T",
"hgvs_p": "p.Gly1305*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492684.1",
"strand": true,
"transcript": "ENST00000639132.1",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1640,
"aa_ref": "G",
"aa_start": 1534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5137,
"cdna_start": 4722,
"cds_end": null,
"cds_length": 4923,
"cds_start": 4600,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001204425.2",
"gene_hgnc_id": 43690,
"gene_symbol": "BIVM-ERCC5",
"hgvs_c": "c.4600G>T",
"hgvs_p": "p.Gly1534*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001191354.2",
"strand": true,
"transcript": "NM_001204425.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1185,
"aa_ref": "G",
"aa_start": 1079,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4008,
"cdna_start": 3597,
"cds_end": null,
"cds_length": 3558,
"cds_start": 3235,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000958785.1",
"gene_hgnc_id": 3437,
"gene_symbol": "ERCC5",
"hgvs_c": "c.3235G>T",
"hgvs_p": "p.Gly1079*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628844.1",
"strand": true,
"transcript": "ENST00000958785.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1185,
"aa_ref": "G",
"aa_start": 1079,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3870,
"cdna_start": 3457,
"cds_end": null,
"cds_length": 3558,
"cds_start": 3235,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000958786.1",
"gene_hgnc_id": 3437,
"gene_symbol": "ERCC5",
"hgvs_c": "c.3235G>T",
"hgvs_p": "p.Gly1079*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628845.1",
"strand": true,
"transcript": "ENST00000958786.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1159,
"aa_ref": "G",
"aa_start": 1053,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3990,
"cdna_start": 3575,
"cds_end": null,
"cds_length": 3480,
"cds_start": 3157,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000872814.1",
"gene_hgnc_id": 3437,
"gene_symbol": "ERCC5",
"hgvs_c": "c.3157G>T",
"hgvs_p": "p.Gly1053*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542873.1",
"strand": true,
"transcript": "ENST00000872814.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1018,
"aa_ref": "G",
"aa_start": 912,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4024,
"cdna_start": 3631,
"cds_end": null,
"cds_length": 3057,
"cds_start": 2734,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000652613.1",
"gene_hgnc_id": 3437,
"gene_symbol": "ERCC5",
"hgvs_c": "c.2734G>T",
"hgvs_p": "p.Gly912*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498357.1",
"strand": true,
"transcript": "ENST00000652613.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2986,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000375954.1",
"gene_hgnc_id": 3437,
"gene_symbol": "ERCC5",
"hgvs_c": "n.2583G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000375954.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 710,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000472247.1",
"gene_hgnc_id": 3437,
"gene_symbol": "ERCC5",
"hgvs_c": "n.398G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000472247.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4221,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000651002.1",
"gene_hgnc_id": 3437,
"gene_symbol": "ERCC5",
"hgvs_c": "n.*2999G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000498809.1",
"strand": true,
"transcript": "ENST00000651002.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3723,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000651055.1",
"gene_hgnc_id": 3437,
"gene_symbol": "ERCC5",
"hgvs_c": "n.3365G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000651055.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3994,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000651281.1",
"gene_hgnc_id": 3437,
"gene_symbol": "ERCC5",
"hgvs_c": "n.3606G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000651281.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3027,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000651387.1",
"gene_hgnc_id": 3437,
"gene_symbol": "ERCC5",
"hgvs_c": "n.2722G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000651387.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3495,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000651470.1",
"gene_hgnc_id": 3437,
"gene_symbol": "ERCC5",
"hgvs_c": "n.*410G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000498701.1",
"strand": true,
"transcript": "ENST00000651470.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4733,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000682632.1",
"gene_hgnc_id": 3437,
"gene_symbol": "ERCC5",
"hgvs_c": "n.4339G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000682632.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4279,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000682869.1",
"gene_hgnc_id": 3437,
"gene_symbol": "ERCC5",
"hgvs_c": "n.3887G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000682869.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5269,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000683246.1",
"gene_hgnc_id": 3437,
"gene_symbol": "ERCC5",
"hgvs_c": "n.4875G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000683246.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3816,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000683642.1",
"gene_hgnc_id": 3437,
"gene_symbol": "ERCC5",
"hgvs_c": "n.3468G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000683642.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4221,
"cdna_start": null,
"cds_end": null,
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}