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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: 3-100775295-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=100775295&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 3,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ABI3BP",
"hgnc_id": 17265,
"hgvs_c": "c.4374G>A",
"hgvs_p": "p.Arg1458Arg",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -1,
"transcript": "NM_001375547.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_score": -1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.78,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.06599999964237213,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1786,
"aa_ref": "R",
"aa_start": 1458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6737,
"cdna_start": 4411,
"cds_end": null,
"cds_length": 5361,
"cds_start": 4374,
"consequences": [
"synonymous_variant"
],
"exon_count": 68,
"exon_rank": 60,
"exon_rank_end": null,
"feature": "NM_001375547.2",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.4374G>A",
"hgvs_p": "p.Arg1458Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000471714.6",
"protein_coding": true,
"protein_id": "NP_001362476.1",
"strand": false,
"transcript": "NM_001375547.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1786,
"aa_ref": "R",
"aa_start": 1458,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6737,
"cdna_start": 4411,
"cds_end": null,
"cds_length": 5361,
"cds_start": 4374,
"consequences": [
"synonymous_variant"
],
"exon_count": 68,
"exon_rank": 60,
"exon_rank_end": null,
"feature": "ENST00000471714.6",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.4374G>A",
"hgvs_p": "p.Arg1458Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001375547.2",
"protein_coding": true,
"protein_id": "ENSP00000420524.2",
"strand": false,
"transcript": "ENST00000471714.6",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1068,
"aa_ref": "R",
"aa_start": 740,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4498,
"cdna_start": 2351,
"cds_end": null,
"cds_length": 3207,
"cds_start": 2220,
"consequences": [
"synonymous_variant"
],
"exon_count": 35,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000284322.10",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.2220G>A",
"hgvs_p": "p.Arg740Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000284322.6",
"strand": false,
"transcript": "ENST00000284322.10",
"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": 2984,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000470336.5",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "n.837G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000470336.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1793,
"aa_ref": "R",
"aa_start": 1465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6737,
"cdna_start": 4411,
"cds_end": null,
"cds_length": 5382,
"cds_start": 4395,
"consequences": [
"synonymous_variant"
],
"exon_count": 68,
"exon_rank": 60,
"exon_rank_end": null,
"feature": "ENST00000710654.1",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.4395G>A",
"hgvs_p": "p.Arg1465Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518403.1",
"strand": false,
"transcript": "ENST00000710654.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1772,
"aa_ref": "R",
"aa_start": 1444,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6516,
"cdna_start": 4369,
"cds_end": null,
"cds_length": 5319,
"cds_start": 4332,
"consequences": [
"synonymous_variant"
],
"exon_count": 67,
"exon_rank": 59,
"exon_rank_end": null,
"feature": "NM_001375550.1",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.4332G>A",
"hgvs_p": "p.Arg1444Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362479.1",
"strand": false,
"transcript": "NM_001375550.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1770,
"aa_ref": "R",
"aa_start": 1442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6689,
"cdna_start": 4363,
"cds_end": null,
"cds_length": 5313,
"cds_start": 4326,
"consequences": [
"synonymous_variant"
],
"exon_count": 67,
"exon_rank": 59,
"exon_rank_end": null,
"feature": "NM_001375549.2",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.4326G>A",
"hgvs_p": "p.Arg1442Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362478.1",
"strand": false,
"transcript": "NM_001375549.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1715,
"aa_ref": "R",
"aa_start": 1387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6345,
"cdna_start": 4198,
"cds_end": null,
"cds_length": 5148,
"cds_start": 4161,
"consequences": [
"synonymous_variant"
],
"exon_count": 65,
"exon_rank": 57,
"exon_rank_end": null,
"feature": "NM_001349329.2",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.4161G>A",
"hgvs_p": "p.Arg1387Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336258.2",
"strand": false,
"transcript": "NM_001349329.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1677,
"aa_ref": "R",
"aa_start": 1349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6268,
"cdna_start": 4121,
"cds_end": null,
"cds_length": 5034,
"cds_start": 4047,
"consequences": [
"synonymous_variant"
],
"exon_count": 63,
"exon_rank": 55,
"exon_rank_end": null,
"feature": "ENST00000882230.1",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.4047G>A",
"hgvs_p": "p.Arg1349Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552289.1",
"strand": false,
"transcript": "ENST00000882230.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1651,
"aa_ref": "R",
"aa_start": 1323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6383,
"cdna_start": 4057,
"cds_end": null,
"cds_length": 4956,
"cds_start": 3969,
"consequences": [
"synonymous_variant"
],
"exon_count": 62,
"exon_rank": 54,
"exon_rank_end": null,
"feature": "ENST00000882203.1",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.3969G>A",
"hgvs_p": "p.Arg1323Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552262.1",
"strand": false,
"transcript": "ENST00000882203.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1645,
"aa_ref": "R",
"aa_start": 1317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6135,
"cdna_start": 3988,
"cds_end": null,
"cds_length": 4938,
"cds_start": 3951,
"consequences": [
"synonymous_variant"
],
"exon_count": 62,
"exon_rank": 54,
"exon_rank_end": null,
"feature": "NM_001349330.2",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.3951G>A",
"hgvs_p": "p.Arg1317Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336259.2",
"strand": false,
"transcript": "NM_001349330.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1564,
"aa_ref": "R",
"aa_start": 1236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4821,
"cdna_start": 3790,
"cds_end": null,
"cds_length": 4695,
"cds_start": 3708,
"consequences": [
"synonymous_variant"
],
"exon_count": 58,
"exon_rank": 50,
"exon_rank_end": null,
"feature": "ENST00000882239.1",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.3708G>A",
"hgvs_p": "p.Arg1236Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552298.1",
"strand": false,
"transcript": "ENST00000882239.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1537,
"aa_ref": "R",
"aa_start": 1209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5990,
"cdna_start": 3664,
"cds_end": null,
"cds_length": 4614,
"cds_start": 3627,
"consequences": [
"synonymous_variant"
],
"exon_count": 57,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "NM_001377332.1",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.3627G>A",
"hgvs_p": "p.Arg1209Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364261.1",
"strand": false,
"transcript": "NM_001377332.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1380,
"aa_ref": "R",
"aa_start": 1052,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5417,
"cdna_start": 3270,
"cds_end": null,
"cds_length": 4143,
"cds_start": 3156,
"consequences": [
"synonymous_variant"
],
"exon_count": 49,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000882206.1",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.3156G>A",
"hgvs_p": "p.Arg1052Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552265.1",
"strand": false,
"transcript": "ENST00000882206.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1344,
"aa_ref": "R",
"aa_start": 1016,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5232,
"cdna_start": 3085,
"cds_end": null,
"cds_length": 4035,
"cds_start": 3048,
"consequences": [
"synonymous_variant"
],
"exon_count": 48,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "NM_001365642.2",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.3048G>A",
"hgvs_p": "p.Arg1016Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001352571.2",
"strand": false,
"transcript": "NM_001365642.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1273,
"aa_ref": "R",
"aa_start": 945,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5013,
"cdna_start": 2866,
"cds_end": null,
"cds_length": 3822,
"cds_start": 2835,
"consequences": [
"synonymous_variant"
],
"exon_count": 45,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000882237.1",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.2835G>A",
"hgvs_p": "p.Arg945Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552296.1",
"strand": false,
"transcript": "ENST00000882237.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1246,
"aa_ref": "R",
"aa_start": 918,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5178,
"cdna_start": 2852,
"cds_end": null,
"cds_length": 3741,
"cds_start": 2754,
"consequences": [
"synonymous_variant"
],
"exon_count": 43,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000882199.1",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.2754G>A",
"hgvs_p": "p.Arg918Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552258.1",
"strand": false,
"transcript": "ENST00000882199.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1235,
"aa_ref": "R",
"aa_start": 907,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4946,
"cdna_start": 2801,
"cds_end": null,
"cds_length": 3708,
"cds_start": 2721,
"consequences": [
"synonymous_variant"
],
"exon_count": 43,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000950966.1",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.2721G>A",
"hgvs_p": "p.Arg907Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621025.1",
"strand": false,
"transcript": "ENST00000950966.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1232,
"aa_ref": "R",
"aa_start": 904,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4929,
"cdna_start": 2784,
"cds_end": null,
"cds_length": 3699,
"cds_start": 2712,
"consequences": [
"synonymous_variant"
],
"exon_count": 42,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000950971.1",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.2712G>A",
"hgvs_p": "p.Arg904Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621030.1",
"strand": false,
"transcript": "ENST00000950971.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1228,
"aa_ref": "R",
"aa_start": 900,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4933,
"cdna_start": 2788,
"cds_end": null,
"cds_length": 3687,
"cds_start": 2700,
"consequences": [
"synonymous_variant"
],
"exon_count": 43,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000882219.1",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.2700G>A",
"hgvs_p": "p.Arg900Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552278.1",
"strand": false,
"transcript": "ENST00000882219.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1222,
"aa_ref": "R",
"aa_start": 894,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4866,
"cdna_start": 2719,
"cds_end": null,
"cds_length": 3669,
"cds_start": 2682,
"consequences": [
"synonymous_variant"
],
"exon_count": 43,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "NM_001349331.2",
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