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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: 20-62306242-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=62306242&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ADRM1",
"hgnc_id": 15759,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Glu126Lys",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_007002.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000226332",
"hgnc_id": null,
"hgvs_c": "n.84C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "ENST00000414042.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.7852,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.4,
"chr": "20",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8481347560882568,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 407,
"aa_ref": "E",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1379,
"cdna_start": 430,
"cds_end": null,
"cds_length": 1224,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_007002.4",
"gene_hgnc_id": 15759,
"gene_symbol": "ADRM1",
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Glu126Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000253003.7",
"protein_coding": true,
"protein_id": "NP_008933.2",
"strand": true,
"transcript": "NM_007002.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 407,
"aa_ref": "E",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1379,
"cdna_start": 430,
"cds_end": null,
"cds_length": 1224,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000253003.7",
"gene_hgnc_id": 15759,
"gene_symbol": "ADRM1",
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Glu126Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_007002.4",
"protein_coding": true,
"protein_id": "ENSP00000253003.2",
"strand": true,
"transcript": "ENST00000253003.7",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 432,
"aa_ref": "E",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1447,
"cdna_start": 425,
"cds_end": null,
"cds_length": 1299,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000906321.1",
"gene_hgnc_id": 15759,
"gene_symbol": "ADRM1",
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Glu126Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576380.1",
"strand": true,
"transcript": "ENST00000906321.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 424,
"aa_ref": "E",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1422,
"cdna_start": 424,
"cds_end": null,
"cds_length": 1275,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000906322.1",
"gene_hgnc_id": 15759,
"gene_symbol": "ADRM1",
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Glu126Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576381.1",
"strand": true,
"transcript": "ENST00000906322.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 414,
"aa_ref": "E",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1535,
"cdna_start": 565,
"cds_end": null,
"cds_length": 1245,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000906315.1",
"gene_hgnc_id": 15759,
"gene_symbol": "ADRM1",
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Glu126Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576374.1",
"strand": true,
"transcript": "ENST00000906315.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 414,
"aa_ref": "E",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1475,
"cdna_start": 508,
"cds_end": null,
"cds_length": 1245,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000906328.1",
"gene_hgnc_id": 15759,
"gene_symbol": "ADRM1",
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Glu126Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576387.1",
"strand": true,
"transcript": "ENST00000906328.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 414,
"aa_ref": "E",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1346,
"cdna_start": 416,
"cds_end": null,
"cds_length": 1245,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000906329.1",
"gene_hgnc_id": 15759,
"gene_symbol": "ADRM1",
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Glu126Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576388.1",
"strand": true,
"transcript": "ENST00000906329.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 407,
"aa_ref": "E",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1476,
"cdna_start": 527,
"cds_end": null,
"cds_length": 1224,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_175573.2",
"gene_hgnc_id": 15759,
"gene_symbol": "ADRM1",
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Glu126Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_783163.1",
"strand": true,
"transcript": "NM_175573.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 407,
"aa_ref": "E",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1530,
"cdna_start": 581,
"cds_end": null,
"cds_length": 1224,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000491935.5",
"gene_hgnc_id": 15759,
"gene_symbol": "ADRM1",
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Glu126Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000478877.1",
"strand": true,
"transcript": "ENST00000491935.5",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 407,
"aa_ref": "E",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1553,
"cdna_start": 604,
"cds_end": null,
"cds_length": 1224,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000906311.1",
"gene_hgnc_id": 15759,
"gene_symbol": "ADRM1",
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Glu126Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576370.1",
"strand": true,
"transcript": "ENST00000906311.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 407,
"aa_ref": "E",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1732,
"cdna_start": 784,
"cds_end": null,
"cds_length": 1224,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000906312.1",
"gene_hgnc_id": 15759,
"gene_symbol": "ADRM1",
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Glu126Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576371.1",
"strand": true,
"transcript": "ENST00000906312.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 407,
"aa_ref": "E",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2294,
"cdna_start": 1346,
"cds_end": null,
"cds_length": 1224,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000906313.1",
"gene_hgnc_id": 15759,
"gene_symbol": "ADRM1",
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Glu126Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576372.1",
"strand": true,
"transcript": "ENST00000906313.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 407,
"aa_ref": "E",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2143,
"cdna_start": 1196,
"cds_end": null,
"cds_length": 1224,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000906314.1",
"gene_hgnc_id": 15759,
"gene_symbol": "ADRM1",
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Glu126Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576373.1",
"strand": true,
"transcript": "ENST00000906314.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 407,
"aa_ref": "E",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1842,
"cdna_start": 897,
"cds_end": null,
"cds_length": 1224,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000906316.1",
"gene_hgnc_id": 15759,
"gene_symbol": "ADRM1",
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Glu126Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576375.1",
"strand": true,
"transcript": "ENST00000906316.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 407,
"aa_ref": "E",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1407,
"cdna_start": 460,
"cds_end": null,
"cds_length": 1224,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000906319.1",
"gene_hgnc_id": 15759,
"gene_symbol": "ADRM1",
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Glu126Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576378.1",
"strand": true,
"transcript": "ENST00000906319.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 407,
"aa_ref": "E",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1461,
"cdna_start": 512,
"cds_end": null,
"cds_length": 1224,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000906326.1",
"gene_hgnc_id": 15759,
"gene_symbol": "ADRM1",
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Glu126Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576384.1",
"strand": true,
"transcript": "ENST00000906326.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 407,
"aa_ref": "E",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1879,
"cdna_start": 925,
"cds_end": null,
"cds_length": 1224,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000906327.1",
"gene_hgnc_id": 15759,
"gene_symbol": "ADRM1",
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Glu126Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576385.1",
"strand": true,
"transcript": "ENST00000906327.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 407,
"aa_ref": "E",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1349,
"cdna_start": 403,
"cds_end": null,
"cds_length": 1224,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000906330.1",
"gene_hgnc_id": 15759,
"gene_symbol": "ADRM1",
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Glu126Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576389.1",
"strand": true,
"transcript": "ENST00000906330.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 407,
"aa_ref": "E",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1940,
"cdna_start": 995,
"cds_end": null,
"cds_length": 1224,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000946004.1",
"gene_hgnc_id": 15759,
"gene_symbol": "ADRM1",
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Glu126Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616063.1",
"strand": true,
"transcript": "ENST00000946004.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 407,
"aa_ref": "E",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1780,
"cdna_start": 835,
"cds_end": null,
"cds_length": 1224,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000946005.1",
"gene_hgnc_id": 15759,
"gene_symbol": "ADRM1",
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Glu126Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616064.1",
"strand": true,
"transcript": "ENST00000946005.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 404,
"aa_ref": "E",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1360,
"cdna_start": 419,
"cds_end": null,
"cds_length": 1215,
"cds_start": 367,
"consequences": [
"missense_variant"
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{
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],
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]
}