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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: 13-102875448-GCA-ACT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=102875448&ref=GCA&alt=ACT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "BIVM-ERCC5",
"hgnc_id": 43690,
"hgvs_c": "c.4468_4470delGCAinsACT",
"hgvs_p": "p.Ala1490Thr",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001204425.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "ERCC5",
"hgnc_id": 3437,
"hgvs_c": "c.3106_3108delGCAinsACT",
"hgvs_p": "p.Ala1036Thr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_000123.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "ACT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "13",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1186,
"aa_ref": "A",
"aa_start": 1036,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3888,
"cdna_start": 3341,
"cds_end": null,
"cds_length": 3561,
"cds_start": 3106,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000123.4",
"gene_hgnc_id": 3437,
"gene_symbol": "ERCC5",
"hgvs_c": "c.3106_3108delGCAinsACT",
"hgvs_p": "p.Ala1036Thr",
"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": "T",
"aa_end": null,
"aa_length": 1186,
"aa_ref": "A",
"aa_start": 1036,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3888,
"cdna_start": 3341,
"cds_end": null,
"cds_length": 3561,
"cds_start": 3106,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000652225.2",
"gene_hgnc_id": 3437,
"gene_symbol": "ERCC5",
"hgvs_c": "c.3106_3108delGCAinsACT",
"hgvs_p": "p.Ala1036Thr",
"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": "T",
"aa_end": null,
"aa_length": 1640,
"aa_ref": "A",
"aa_start": 1490,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5632,
"cdna_start": 5086,
"cds_end": null,
"cds_length": 4923,
"cds_start": 4468,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000639435.1",
"gene_hgnc_id": 43690,
"gene_symbol": "BIVM-ERCC5",
"hgvs_c": "c.4468_4470delGCAinsACT",
"hgvs_p": "p.Ala1490Thr",
"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": "T",
"aa_end": null,
"aa_length": 1411,
"aa_ref": "A",
"aa_start": 1261,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5195,
"cdna_start": 4652,
"cds_end": null,
"cds_length": 4236,
"cds_start": 3781,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000639132.1",
"gene_hgnc_id": 43690,
"gene_symbol": "BIVM-ERCC5",
"hgvs_c": "c.3781_3783delGCAinsACT",
"hgvs_p": "p.Ala1261Thr",
"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": "T",
"aa_end": null,
"aa_length": 1640,
"aa_ref": "A",
"aa_start": 1490,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5137,
"cdna_start": 4590,
"cds_end": null,
"cds_length": 4923,
"cds_start": 4468,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001204425.2",
"gene_hgnc_id": 43690,
"gene_symbol": "BIVM-ERCC5",
"hgvs_c": "c.4468_4470delGCAinsACT",
"hgvs_p": "p.Ala1490Thr",
"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": "T",
"aa_end": null,
"aa_length": 1185,
"aa_ref": "A",
"aa_start": 1035,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4008,
"cdna_start": 3465,
"cds_end": null,
"cds_length": 3558,
"cds_start": 3103,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000958785.1",
"gene_hgnc_id": 3437,
"gene_symbol": "ERCC5",
"hgvs_c": "c.3103_3105delGCAinsACT",
"hgvs_p": "p.Ala1035Thr",
"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": "T",
"aa_end": null,
"aa_length": 1185,
"aa_ref": "A",
"aa_start": 1035,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3870,
"cdna_start": 3325,
"cds_end": null,
"cds_length": 3558,
"cds_start": 3103,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000958786.1",
"gene_hgnc_id": 3437,
"gene_symbol": "ERCC5",
"hgvs_c": "c.3103_3105delGCAinsACT",
"hgvs_p": "p.Ala1035Thr",
"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": "T",
"aa_end": null,
"aa_length": 1159,
"aa_ref": "A",
"aa_start": 1009,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3990,
"cdna_start": 3443,
"cds_end": null,
"cds_length": 3480,
"cds_start": 3025,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000872814.1",
"gene_hgnc_id": 3437,
"gene_symbol": "ERCC5",
"hgvs_c": "c.3025_3027delGCAinsACT",
"hgvs_p": "p.Ala1009Thr",
"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": "T",
"aa_end": null,
"aa_length": 1018,
"aa_ref": "A",
"aa_start": 868,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4024,
"cdna_start": 3499,
"cds_end": null,
"cds_length": 3057,
"cds_start": 2602,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000652613.1",
"gene_hgnc_id": 3437,
"gene_symbol": "ERCC5",
"hgvs_c": "c.2602_2604delGCAinsACT",
"hgvs_p": "p.Ala868Thr",
"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.2451_2453delGCAinsACT",
"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.266_268delGCAinsACT",
"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.*2867_*2869delGCAinsACT",
"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.3233_3235delGCAinsACT",
"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.3474_3476delGCAinsACT",
"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.2590_2592delGCAinsACT",
"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.*278_*280delGCAinsACT",
"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.4207_4209delGCAinsACT",
"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.3755_3757delGCAinsACT",
"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.4743_4745delGCAinsACT",
"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.3336_3338delGCAinsACT",
"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,
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}