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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: 12-111705916-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=111705916&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ACAD10",
"hgnc_id": 21597,
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Arg172Gln",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001136538.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 28,
"alphamissense_prediction": null,
"alphamissense_score": 0.0801,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.57,
"chr": "12",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.20158922672271729,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1059,
"aa_ref": "R",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4006,
"cdna_start": 715,
"cds_end": null,
"cds_length": 3180,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_025247.6",
"gene_hgnc_id": 21597,
"gene_symbol": "ACAD10",
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Arg172Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000313698.9",
"protein_coding": true,
"protein_id": "NP_079523.3",
"strand": true,
"transcript": "NM_025247.6",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1059,
"aa_ref": "R",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4006,
"cdna_start": 715,
"cds_end": null,
"cds_length": 3180,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000313698.9",
"gene_hgnc_id": 21597,
"gene_symbol": "ACAD10",
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Arg172Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_025247.6",
"protein_coding": true,
"protein_id": "ENSP00000325137.5",
"strand": true,
"transcript": "ENST00000313698.9",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1090,
"aa_ref": "R",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4071,
"cdna_start": 692,
"cds_end": null,
"cds_length": 3273,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000455480.6",
"gene_hgnc_id": 21597,
"gene_symbol": "ACAD10",
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Arg172Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000389813.2",
"strand": true,
"transcript": "ENST00000455480.6",
"transcript_support_level": 1
},
{
"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": 1342,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000507135.5",
"gene_hgnc_id": 21597,
"gene_symbol": "ACAD10",
"hgvs_c": "n.687G>A",
"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": "ENST00000507135.5",
"transcript_support_level": 1
},
{
"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": 1183,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000509936.5",
"gene_hgnc_id": 21597,
"gene_symbol": "ACAD10",
"hgvs_c": "n.700G>A",
"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": "ENST00000509936.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1136,
"aa_ref": "R",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4226,
"cdna_start": 704,
"cds_end": null,
"cds_length": 3411,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000893914.1",
"gene_hgnc_id": 21597,
"gene_symbol": "ACAD10",
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Arg172Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563973.1",
"strand": true,
"transcript": "ENST00000893914.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1134,
"aa_ref": "R",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4231,
"cdna_start": 709,
"cds_end": null,
"cds_length": 3405,
"cds_start": 509,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000893903.1",
"gene_hgnc_id": 21597,
"gene_symbol": "ACAD10",
"hgvs_c": "c.509G>A",
"hgvs_p": "p.Arg170Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563962.1",
"strand": true,
"transcript": "ENST00000893903.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1105,
"aa_ref": "R",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4140,
"cdna_start": 704,
"cds_end": null,
"cds_length": 3318,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000893910.1",
"gene_hgnc_id": 21597,
"gene_symbol": "ACAD10",
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Arg172Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563969.1",
"strand": true,
"transcript": "ENST00000893910.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1090,
"aa_ref": "R",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4099,
"cdna_start": 715,
"cds_end": null,
"cds_length": 3273,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001136538.2",
"gene_hgnc_id": 21597,
"gene_symbol": "ACAD10",
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Arg172Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001130010.1",
"strand": true,
"transcript": "NM_001136538.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1090,
"aa_ref": "R",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4173,
"cdna_start": 789,
"cds_end": null,
"cds_length": 3273,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000893926.1",
"gene_hgnc_id": 21597,
"gene_symbol": "ACAD10",
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Arg172Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563985.1",
"strand": true,
"transcript": "ENST00000893926.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1086,
"aa_ref": "R",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4089,
"cdna_start": 715,
"cds_end": null,
"cds_length": 3261,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000893902.1",
"gene_hgnc_id": 21597,
"gene_symbol": "ACAD10",
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Arg172Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563961.1",
"strand": true,
"transcript": "ENST00000893902.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1059,
"aa_ref": "R",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4014,
"cdna_start": 723,
"cds_end": null,
"cds_length": 3180,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000893907.1",
"gene_hgnc_id": 21597,
"gene_symbol": "ACAD10",
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Arg172Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563966.1",
"strand": true,
"transcript": "ENST00000893907.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1059,
"aa_ref": "R",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4158,
"cdna_start": 868,
"cds_end": null,
"cds_length": 3180,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000893912.1",
"gene_hgnc_id": 21597,
"gene_symbol": "ACAD10",
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Arg172Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563971.1",
"strand": true,
"transcript": "ENST00000893912.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1059,
"aa_ref": "R",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4110,
"cdna_start": 819,
"cds_end": null,
"cds_length": 3180,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000893916.1",
"gene_hgnc_id": 21597,
"gene_symbol": "ACAD10",
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Arg172Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563975.1",
"strand": true,
"transcript": "ENST00000893916.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1059,
"aa_ref": "R",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4095,
"cdna_start": 802,
"cds_end": null,
"cds_length": 3180,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000893917.1",
"gene_hgnc_id": 21597,
"gene_symbol": "ACAD10",
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Arg172Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563976.1",
"strand": true,
"transcript": "ENST00000893917.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1059,
"aa_ref": "R",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4280,
"cdna_start": 991,
"cds_end": null,
"cds_length": 3180,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000938929.1",
"gene_hgnc_id": 21597,
"gene_symbol": "ACAD10",
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Arg172Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608988.1",
"strand": true,
"transcript": "ENST00000938929.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1059,
"aa_ref": "R",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4157,
"cdna_start": 879,
"cds_end": null,
"cds_length": 3180,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000948211.1",
"gene_hgnc_id": 21597,
"gene_symbol": "ACAD10",
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Arg172Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618270.1",
"strand": true,
"transcript": "ENST00000948211.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1059,
"aa_ref": "R",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4245,
"cdna_start": 965,
"cds_end": null,
"cds_length": 3180,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000948213.1",
"gene_hgnc_id": 21597,
"gene_symbol": "ACAD10",
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Arg172Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618272.1",
"strand": true,
"transcript": "ENST00000948213.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1059,
"aa_ref": "R",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4110,
"cdna_start": 821,
"cds_end": null,
"cds_length": 3180,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000948214.1",
"gene_hgnc_id": 21597,
"gene_symbol": "ACAD10",
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Arg172Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618273.1",
"strand": true,
"transcript": "ENST00000948214.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "R",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3992,
"cdna_start": 704,
"cds_end": null,
"cds_length": 3177,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000893915.1",
"gene_hgnc_id": 21597,
"gene_symbol": "ACAD10",
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Arg172Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563974.1",
"strand": true,
"transcript": "ENST00000893915.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "R",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3974,
"cdna_start": 689,
"cds_end": null,
"cds_length": 3177,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000938931.1",
"gene_hgnc_id": 21597,
"gene_symbol": "ACAD10",
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Arg172Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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