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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: 1-54034512-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=54034512&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "TMEM59",
"hgnc_id": 1239,
"hgvs_c": "c.819+2098T>C",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001305043.2",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000280378",
"hgnc_id": null,
"hgvs_c": "n.369T>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000624679.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 19715,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -1.04,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -1.0399999618530273,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 323,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6457,
"cdna_start": null,
"cds_end": null,
"cds_length": 972,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_004872.5",
"gene_hgnc_id": 1239,
"gene_symbol": "TMEM59",
"hgvs_c": "c.816+2098T>C",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000234831.10",
"protein_coding": true,
"protein_id": "NP_004863.2",
"strand": false,
"transcript": "NM_004872.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 323,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6457,
"cdna_start": null,
"cds_end": null,
"cds_length": 972,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000234831.10",
"gene_hgnc_id": 1239,
"gene_symbol": "TMEM59",
"hgvs_c": "c.816+2098T>C",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004872.5",
"protein_coding": true,
"protein_id": "ENSP00000234831.5",
"strand": false,
"transcript": "ENST00000234831.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 192,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1911,
"cdna_start": null,
"cds_end": null,
"cds_length": 579,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000371348.5",
"gene_hgnc_id": 1239,
"gene_symbol": "TMEM59",
"hgvs_c": "c.423+2098T>C",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000360399.1",
"strand": false,
"transcript": "ENST00000371348.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 363,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1239,
"cdna_start": null,
"cds_end": null,
"cds_length": 1092,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000864587.1",
"gene_hgnc_id": 1239,
"gene_symbol": "TMEM59",
"hgvs_c": "c.936+2098T>C",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534646.1",
"strand": false,
"transcript": "ENST00000864587.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 362,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1573,
"cdna_start": null,
"cds_end": null,
"cds_length": 1089,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000864584.1",
"gene_hgnc_id": 1239,
"gene_symbol": "TMEM59",
"hgvs_c": "c.933+2098T>C",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534643.1",
"strand": false,
"transcript": "ENST00000864584.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 345,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1186,
"cdna_start": null,
"cds_end": null,
"cds_length": 1038,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000864586.1",
"gene_hgnc_id": 1239,
"gene_symbol": "TMEM59",
"hgvs_c": "c.882+2098T>C",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534645.1",
"strand": false,
"transcript": "ENST00000864586.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 335,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1725,
"cdna_start": null,
"cds_end": null,
"cds_length": 1008,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000864582.1",
"gene_hgnc_id": 1239,
"gene_symbol": "TMEM59",
"hgvs_c": "c.852+2098T>C",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534641.1",
"strand": false,
"transcript": "ENST00000864582.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 324,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6460,
"cdna_start": null,
"cds_end": null,
"cds_length": 975,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001305043.2",
"gene_hgnc_id": 1239,
"gene_symbol": "TMEM59",
"hgvs_c": "c.819+2098T>C",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001291972.1",
"strand": false,
"transcript": "NM_001305043.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 324,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6518,
"cdna_start": null,
"cds_end": null,
"cds_length": 975,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000864578.1",
"gene_hgnc_id": 1239,
"gene_symbol": "TMEM59",
"hgvs_c": "c.819+2098T>C",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534637.1",
"strand": false,
"transcript": "ENST00000864578.1",
"transcript_support_level": null
},
{
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"aa_length": 323,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1692,
"cdna_start": null,
"cds_end": null,
"cds_length": 972,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000864581.1",
"gene_hgnc_id": 1239,
"gene_symbol": "TMEM59",
"hgvs_c": "c.819+2098T>C",
"hgvs_p": null,
"intron_rank": 7,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000534640.1",
"strand": false,
"transcript": "ENST00000864581.1",
"transcript_support_level": null
},
{
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"aa_length": 322,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1694,
"cdna_start": null,
"cds_end": null,
"cds_length": 969,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
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"feature": "ENST00000864580.1",
"gene_hgnc_id": 1239,
"gene_symbol": "TMEM59",
"hgvs_c": "c.816+2098T>C",
"hgvs_p": null,
"intron_rank": 7,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000534639.1",
"strand": false,
"transcript": "ENST00000864580.1",
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},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 8,
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"feature": "ENST00000864583.1",
"gene_hgnc_id": 1239,
"gene_symbol": "TMEM59",
"hgvs_c": "c.810+2098T>C",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000534642.1",
"strand": false,
"transcript": "ENST00000864583.1",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 8,
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"feature": "ENST00000864588.1",
"gene_hgnc_id": 1239,
"gene_symbol": "TMEM59",
"hgvs_c": "c.804+2098T>C",
"hgvs_p": null,
"intron_rank": 7,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534647.1",
"strand": false,
"transcript": "ENST00000864588.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 8,
"exon_rank": null,
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"feature": "ENST00000864579.1",
"gene_hgnc_id": 1239,
"gene_symbol": "TMEM59",
"hgvs_c": "c.657+2098T>C",
"hgvs_p": null,
"intron_rank": 7,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000534638.1",
"strand": false,
"transcript": "ENST00000864579.1",
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},
{
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"consequences": [
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],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001305050.2",
"gene_hgnc_id": 1239,
"gene_symbol": "TMEM59",
"hgvs_c": "c.618+2098T>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001291979.1",
"strand": false,
"transcript": "NM_001305050.2",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 621,
"cds_start": null,
"consequences": [
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],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000864585.1",
"gene_hgnc_id": 1239,
"gene_symbol": "TMEM59",
"hgvs_c": "c.465+2098T>C",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534644.1",
"strand": false,
"transcript": "ENST00000864585.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 8,
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"feature": "NM_001305049.1",
"gene_hgnc_id": 1239,
"gene_symbol": "TMEM59",
"hgvs_c": "c.426+2098T>C",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001291978.1",
"strand": false,
"transcript": "NM_001305049.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 8,
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"feature": "NM_001305051.1",
"gene_hgnc_id": 1239,
"gene_symbol": "TMEM59",
"hgvs_c": "c.423+2098T>C",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001291980.1",
"strand": false,
"transcript": "NM_001305051.1",
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},
{
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"consequences": [
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],
"exon_count": 7,
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"feature": "NM_001305052.1",
"gene_hgnc_id": 1239,
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"hgvs_c": "c.423+2098T>C",
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"intron_rank": 6,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001291981.1",
"strand": false,
"transcript": "NM_001305052.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 579,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000371341.5",
"gene_hgnc_id": 1239,
"gene_symbol": "TMEM59",
"hgvs_c": "c.423+2098T>C",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000360392.1",
"strand": false,
"transcript": "ENST00000371341.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2473,
"cdna_start": null,
"cds_end": null,
"cds_length": 579,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000371344.5",
"gene_hgnc_id": 1239,
"gene_symbol": "TMEM59",
"hgvs_c": "c.423+2098T>C",
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