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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: 9-127808615-ACC-GCG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=127808615&ref=ACC&alt=GCG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "FPGS",
"hgnc_id": 3824,
"hgvs_c": "c.880_882delACCinsGCG",
"hgvs_p": "p.Thr294Ala",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_004957.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GCG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "9",
"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": "A",
"aa_end": null,
"aa_length": 587,
"aa_ref": "T",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2284,
"cdna_start": 923,
"cds_end": null,
"cds_length": 1764,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_004957.6",
"gene_hgnc_id": 3824,
"gene_symbol": "FPGS",
"hgvs_c": "c.880_882delACCinsGCG",
"hgvs_p": "p.Thr294Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000373247.7",
"protein_coding": true,
"protein_id": "NP_004948.4",
"strand": true,
"transcript": "NM_004957.6",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 587,
"aa_ref": "T",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2284,
"cdna_start": 923,
"cds_end": null,
"cds_length": 1764,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000373247.7",
"gene_hgnc_id": 3824,
"gene_symbol": "FPGS",
"hgvs_c": "c.880_882delACCinsGCG",
"hgvs_p": "p.Thr294Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004957.6",
"protein_coding": true,
"protein_id": "ENSP00000362344.2",
"strand": true,
"transcript": "ENST00000373247.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2206,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000460181.5",
"gene_hgnc_id": 3824,
"gene_symbol": "FPGS",
"hgvs_c": "n.868_870delACCinsGCG",
"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": "ENST00000460181.5",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 621,
"aa_ref": "T",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2339,
"cdna_start": 997,
"cds_end": null,
"cds_length": 1866,
"cds_start": 982,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910448.1",
"gene_hgnc_id": 3824,
"gene_symbol": "FPGS",
"hgvs_c": "c.982_984delACCinsGCG",
"hgvs_p": "p.Thr328Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580507.1",
"strand": true,
"transcript": "ENST00000910448.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 604,
"aa_ref": "T",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2332,
"cdna_start": 939,
"cds_end": null,
"cds_length": 1815,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910442.1",
"gene_hgnc_id": 3824,
"gene_symbol": "FPGS",
"hgvs_c": "c.880_882delACCinsGCG",
"hgvs_p": "p.Thr294Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580501.1",
"strand": true,
"transcript": "ENST00000910442.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 598,
"aa_ref": "T",
"aa_start": 305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2255,
"cdna_start": 913,
"cds_end": null,
"cds_length": 1797,
"cds_start": 913,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000931643.1",
"gene_hgnc_id": 3824,
"gene_symbol": "FPGS",
"hgvs_c": "c.913_915delACCinsGCG",
"hgvs_p": "p.Thr305Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601702.1",
"strand": true,
"transcript": "ENST00000931643.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 598,
"aa_ref": "T",
"aa_start": 305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2284,
"cdna_start": 949,
"cds_end": null,
"cds_length": 1797,
"cds_start": 913,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000943704.1",
"gene_hgnc_id": 3824,
"gene_symbol": "FPGS",
"hgvs_c": "c.913_915delACCinsGCG",
"hgvs_p": "p.Thr305Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613763.1",
"strand": true,
"transcript": "ENST00000943704.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 594,
"aa_ref": "T",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2286,
"cdna_start": 923,
"cds_end": null,
"cds_length": 1785,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000931641.1",
"gene_hgnc_id": 3824,
"gene_symbol": "FPGS",
"hgvs_c": "c.880_882delACCinsGCG",
"hgvs_p": "p.Thr294Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601700.1",
"strand": true,
"transcript": "ENST00000931641.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 591,
"aa_ref": "T",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2266,
"cdna_start": 924,
"cds_end": null,
"cds_length": 1776,
"cds_start": 892,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910447.1",
"gene_hgnc_id": 3824,
"gene_symbol": "FPGS",
"hgvs_c": "c.892_894delACCinsGCG",
"hgvs_p": "p.Thr298Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580506.1",
"strand": true,
"transcript": "ENST00000910447.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 589,
"aa_ref": "T",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2243,
"cdna_start": 901,
"cds_end": null,
"cds_length": 1770,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910449.1",
"gene_hgnc_id": 3824,
"gene_symbol": "FPGS",
"hgvs_c": "c.886_888delACCinsGCG",
"hgvs_p": "p.Thr296Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580508.1",
"strand": true,
"transcript": "ENST00000910449.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 577,
"aa_ref": "T",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2248,
"cdna_start": 906,
"cds_end": null,
"cds_length": 1734,
"cds_start": 850,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910443.1",
"gene_hgnc_id": 3824,
"gene_symbol": "FPGS",
"hgvs_c": "c.850_852delACCinsGCG",
"hgvs_p": "p.Thr284Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580502.1",
"strand": true,
"transcript": "ENST00000910443.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 569,
"aa_ref": "T",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2215,
"cdna_start": 873,
"cds_end": null,
"cds_length": 1710,
"cds_start": 826,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910444.1",
"gene_hgnc_id": 3824,
"gene_symbol": "FPGS",
"hgvs_c": "c.826_828delACCinsGCG",
"hgvs_p": "p.Thr276Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580503.1",
"strand": true,
"transcript": "ENST00000910444.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 569,
"aa_ref": "T",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2215,
"cdna_start": 873,
"cds_end": null,
"cds_length": 1710,
"cds_start": 826,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910445.1",
"gene_hgnc_id": 3824,
"gene_symbol": "FPGS",
"hgvs_c": "c.826_828delACCinsGCG",
"hgvs_p": "p.Thr276Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580504.1",
"strand": true,
"transcript": "ENST00000910445.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 561,
"aa_ref": "T",
"aa_start": 268,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2230,
"cdna_start": 869,
"cds_end": null,
"cds_length": 1686,
"cds_start": 802,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001288803.1",
"gene_hgnc_id": 3824,
"gene_symbol": "FPGS",
"hgvs_c": "c.802_804delACCinsGCG",
"hgvs_p": "p.Thr268Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275732.1",
"strand": true,
"transcript": "NM_001288803.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 561,
"aa_ref": "T",
"aa_start": 268,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2230,
"cdna_start": 869,
"cds_end": null,
"cds_length": 1686,
"cds_start": 802,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000393706.6",
"gene_hgnc_id": 3824,
"gene_symbol": "FPGS",
"hgvs_c": "c.802_804delACCinsGCG",
"hgvs_p": "p.Thr268Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377309.2",
"strand": true,
"transcript": "ENST00000393706.6",
"transcript_support_level": 2
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 561,
"aa_ref": "T",
"aa_start": 268,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2146,
"cdna_start": 812,
"cds_end": null,
"cds_length": 1686,
"cds_start": 802,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000943706.1",
"gene_hgnc_id": 3824,
"gene_symbol": "FPGS",
"hgvs_c": "c.802_804delACCinsGCG",
"hgvs_p": "p.Thr268Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613765.1",
"strand": true,
"transcript": "ENST00000943706.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 544,
"aa_ref": "T",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2162,
"cdna_start": 818,
"cds_end": null,
"cds_length": 1635,
"cds_start": 751,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000943702.1",
"gene_hgnc_id": 3824,
"gene_symbol": "FPGS",
"hgvs_c": "c.751_753delACCinsGCG",
"hgvs_p": "p.Thr251Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613761.1",
"strand": true,
"transcript": "ENST00000943702.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 539,
"aa_ref": "T",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2114,
"cdna_start": 779,
"cds_end": null,
"cds_length": 1620,
"cds_start": 736,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910446.1",
"gene_hgnc_id": 3824,
"gene_symbol": "FPGS",
"hgvs_c": "c.736_738delACCinsGCG",
"hgvs_p": "p.Thr246Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580505.1",
"strand": true,
"transcript": "ENST00000910446.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 537,
"aa_ref": "T",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2327,
"cdna_start": 966,
"cds_end": null,
"cds_length": 1614,
"cds_start": 730,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001018078.2",
"gene_hgnc_id": 3824,
"gene_symbol": "FPGS",
"hgvs_c": "c.730_732delACCinsGCG",
"hgvs_p": "p.Thr244Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001018088.1",
"strand": true,
"transcript": "NM_001018078.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 537,
"aa_ref": "T",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2278,
"cdna_start": 939,
"cds_end": null,
"cds_length": 1614,
"cds_start": 730,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000373225.7",
"gene_hgnc_id": 3824,
"gene_symbol": "FPGS",
"hgvs_c": "c.730_732delACCinsGCG",
"hgvs_p": "p.Thr244Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362322.3",
"strand": true,
"transcript": "ENST00000373225.7",
"transcript_support_level": 2
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 526,
"aa_ref": "T",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2091,
"cdna_start": 756,
"cds_end": null,
"cds_length": 1581,
"cds_start": 697,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000943703.1",
"gene_hgnc_id": 3824,
"gene_symbol": "FPGS",
"hgvs_c": "c.697_699delACCinsGCG",
"hgvs_p": "p.Thr233Ala",
"intron_rank": null,
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