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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: 6-12294025-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=12294025&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "EDN1",
"hgnc_id": 3176,
"hgvs_c": "c.318A>G",
"hgvs_p": "p.Glu106Glu",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_001955.5",
"verdict": "Benign"
},
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000302734",
"hgnc_id": null,
"hgvs_c": "n.70+17156T>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -20,
"transcript": "ENST00000789282.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_score": -21,
"allele_count_reference_population": 1432260,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.89,
"chr": "6",
"clinvar_classification": "Benign",
"clinvar_disease": "Auriculocondylar syndrome 3,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8899999856948853,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 212,
"aa_ref": "E",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2035,
"cdna_start": 587,
"cds_end": null,
"cds_length": 639,
"cds_start": 318,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001955.5",
"gene_hgnc_id": 3176,
"gene_symbol": "EDN1",
"hgvs_c": "c.318A>G",
"hgvs_p": "p.Glu106Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000379375.6",
"protein_coding": true,
"protein_id": "NP_001946.3",
"strand": true,
"transcript": "NM_001955.5",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 212,
"aa_ref": "E",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2035,
"cdna_start": 587,
"cds_end": null,
"cds_length": 639,
"cds_start": 318,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000379375.6",
"gene_hgnc_id": 3176,
"gene_symbol": "EDN1",
"hgvs_c": "c.318A>G",
"hgvs_p": "p.Glu106Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001955.5",
"protein_coding": true,
"protein_id": "ENSP00000368683.5",
"strand": true,
"transcript": "ENST00000379375.6",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 220,
"aa_ref": "E",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2059,
"cdna_start": 611,
"cds_end": null,
"cds_length": 663,
"cds_start": 342,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000877370.1",
"gene_hgnc_id": 3176,
"gene_symbol": "EDN1",
"hgvs_c": "c.342A>G",
"hgvs_p": "p.Glu114Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547429.1",
"strand": true,
"transcript": "ENST00000877370.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 220,
"aa_ref": "E",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1969,
"cdna_start": 521,
"cds_end": null,
"cds_length": 663,
"cds_start": 342,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000971811.1",
"gene_hgnc_id": 3176,
"gene_symbol": "EDN1",
"hgvs_c": "c.342A>G",
"hgvs_p": "p.Glu114Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641870.1",
"strand": true,
"transcript": "ENST00000971811.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 219,
"aa_ref": "E",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1418,
"cdna_start": 608,
"cds_end": null,
"cds_length": 660,
"cds_start": 339,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000877373.1",
"gene_hgnc_id": 3176,
"gene_symbol": "EDN1",
"hgvs_c": "c.339A>G",
"hgvs_p": "p.Glu113Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547432.1",
"strand": true,
"transcript": "ENST00000877373.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 212,
"aa_ref": "E",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1877,
"cdna_start": 429,
"cds_end": null,
"cds_length": 639,
"cds_start": 318,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001416563.1",
"gene_hgnc_id": 3176,
"gene_symbol": "EDN1",
"hgvs_c": "c.318A>G",
"hgvs_p": "p.Glu106Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001403492.1",
"strand": true,
"transcript": "NM_001416563.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 212,
"aa_ref": "E",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1823,
"cdna_start": 375,
"cds_end": null,
"cds_length": 639,
"cds_start": 318,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001416564.1",
"gene_hgnc_id": 3176,
"gene_symbol": "EDN1",
"hgvs_c": "c.318A>G",
"hgvs_p": "p.Glu106Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001403493.1",
"strand": true,
"transcript": "NM_001416564.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 212,
"aa_ref": "E",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2161,
"cdna_start": 713,
"cds_end": null,
"cds_length": 639,
"cds_start": 318,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001416565.1",
"gene_hgnc_id": 3176,
"gene_symbol": "EDN1",
"hgvs_c": "c.318A>G",
"hgvs_p": "p.Glu106Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001403494.1",
"strand": true,
"transcript": "NM_001416565.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 212,
"aa_ref": "E",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1949,
"cdna_start": 503,
"cds_end": null,
"cds_length": 639,
"cds_start": 318,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000877364.1",
"gene_hgnc_id": 3176,
"gene_symbol": "EDN1",
"hgvs_c": "c.318A>G",
"hgvs_p": "p.Glu106Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547423.1",
"strand": true,
"transcript": "ENST00000877364.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 212,
"aa_ref": "E",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1270,
"cdna_start": 460,
"cds_end": null,
"cds_length": 639,
"cds_start": 318,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000877365.1",
"gene_hgnc_id": 3176,
"gene_symbol": "EDN1",
"hgvs_c": "c.318A>G",
"hgvs_p": "p.Glu106Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547424.1",
"strand": true,
"transcript": "ENST00000877365.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 212,
"aa_ref": "E",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1948,
"cdna_start": 500,
"cds_end": null,
"cds_length": 639,
"cds_start": 318,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000877366.1",
"gene_hgnc_id": 3176,
"gene_symbol": "EDN1",
"hgvs_c": "c.318A>G",
"hgvs_p": "p.Glu106Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547425.1",
"strand": true,
"transcript": "ENST00000877366.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 212,
"aa_ref": "E",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1402,
"cdna_start": 592,
"cds_end": null,
"cds_length": 639,
"cds_start": 318,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000877367.1",
"gene_hgnc_id": 3176,
"gene_symbol": "EDN1",
"hgvs_c": "c.318A>G",
"hgvs_p": "p.Glu106Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547426.1",
"strand": true,
"transcript": "ENST00000877367.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 212,
"aa_ref": "E",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1280,
"cdna_start": 470,
"cds_end": null,
"cds_length": 639,
"cds_start": 318,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000877368.1",
"gene_hgnc_id": 3176,
"gene_symbol": "EDN1",
"hgvs_c": "c.318A>G",
"hgvs_p": "p.Glu106Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547427.1",
"strand": true,
"transcript": "ENST00000877368.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 212,
"aa_ref": "E",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1239,
"cdna_start": 429,
"cds_end": null,
"cds_length": 639,
"cds_start": 318,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000877371.1",
"gene_hgnc_id": 3176,
"gene_symbol": "EDN1",
"hgvs_c": "c.318A>G",
"hgvs_p": "p.Glu106Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547430.1",
"strand": true,
"transcript": "ENST00000877371.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 212,
"aa_ref": "E",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1206,
"cdna_start": 396,
"cds_end": null,
"cds_length": 639,
"cds_start": 318,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000877372.1",
"gene_hgnc_id": 3176,
"gene_symbol": "EDN1",
"hgvs_c": "c.318A>G",
"hgvs_p": "p.Glu106Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547431.1",
"strand": true,
"transcript": "ENST00000877372.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 212,
"aa_ref": "E",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1846,
"cdna_start": 400,
"cds_end": null,
"cds_length": 639,
"cds_start": 318,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000916855.1",
"gene_hgnc_id": 3176,
"gene_symbol": "EDN1",
"hgvs_c": "c.318A>G",
"hgvs_p": "p.Glu106Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586914.1",
"strand": true,
"transcript": "ENST00000916855.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 212,
"aa_ref": "E",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2540,
"cdna_start": 1752,
"cds_end": null,
"cds_length": 639,
"cds_start": 318,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000971814.1",
"gene_hgnc_id": 3176,
"gene_symbol": "EDN1",
"hgvs_c": "c.318A>G",
"hgvs_p": "p.Glu106Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641873.1",
"strand": true,
"transcript": "ENST00000971814.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 211,
"aa_ref": "E",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2032,
"cdna_start": 584,
"cds_end": null,
"cds_length": 636,
"cds_start": 315,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001168319.2",
"gene_hgnc_id": 3176,
"gene_symbol": "EDN1",
"hgvs_c": "c.315A>G",
"hgvs_p": "p.Glu105Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001161791.1",
"strand": true,
"transcript": "NM_001168319.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 211,
"aa_ref": "E",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2379,
"cdna_start": 931,
"cds_end": null,
"cds_length": 636,
"cds_start": 315,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000877369.1",
"gene_hgnc_id": 3176,
"gene_symbol": "EDN1",
"hgvs_c": "c.315A>G",
"hgvs_p": "p.Glu105Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547428.1",
"strand": true,
"transcript": "ENST00000877369.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 211,
"aa_ref": "E",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1622,
"cdna_start": 834,
"cds_end": null,
"cds_length": 636,
"cds_start": 315,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000971812.1",
"gene_hgnc_id": 3176,
"gene_symbol": "EDN1",
"hgvs_c": "c.315A>G",
"hgvs_p": "p.Glu105Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641871.1",
"strand": true,
"transcript": "ENST00000971812.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 211,
"aa_ref": "E",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1332,
"cdna_start": 386,
"cds_end": null,
"cds_length": 636,
"cds_start": 315,
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