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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: 1-183867898-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=183867898&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "RGL1",
"hgnc_id": 30281,
"hgvs_c": "c.530+1825A>T",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_015149.6",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.87,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8700000047683716,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 768,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4725,
"cdna_start": null,
"cds_end": null,
"cds_length": 2307,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001297671.3",
"gene_hgnc_id": 30281,
"gene_symbol": "RGL1",
"hgvs_c": "c.425+1825A>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000360851.4",
"protein_coding": true,
"protein_id": "NP_001284600.1",
"strand": true,
"transcript": "NM_001297671.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 768,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4725,
"cdna_start": null,
"cds_end": null,
"cds_length": 2307,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000360851.4",
"gene_hgnc_id": 30281,
"gene_symbol": "RGL1",
"hgvs_c": "c.425+1825A>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001297671.3",
"protein_coding": true,
"protein_id": "ENSP00000354097.3",
"strand": true,
"transcript": "ENST00000360851.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 803,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5100,
"cdna_start": null,
"cds_end": null,
"cds_length": 2412,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000304685.8",
"gene_hgnc_id": 30281,
"gene_symbol": "RGL1",
"hgvs_c": "c.530+1825A>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000303192.3",
"strand": true,
"transcript": "ENST00000304685.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 803,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5077,
"cdna_start": null,
"cds_end": null,
"cds_length": 2412,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_015149.6",
"gene_hgnc_id": 30281,
"gene_symbol": "RGL1",
"hgvs_c": "c.530+1825A>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055964.3",
"strand": true,
"transcript": "NM_015149.6",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 778,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4401,
"cdna_start": null,
"cds_end": null,
"cds_length": 2337,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000888235.1",
"gene_hgnc_id": 30281,
"gene_symbol": "RGL1",
"hgvs_c": "c.425+1825A>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558294.1",
"strand": true,
"transcript": "ENST00000888235.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 766,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5076,
"cdna_start": null,
"cds_end": null,
"cds_length": 2301,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001297669.3",
"gene_hgnc_id": 30281,
"gene_symbol": "RGL1",
"hgvs_c": "c.419+1825A>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001284598.1",
"strand": true,
"transcript": "NM_001297669.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 766,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4966,
"cdna_start": null,
"cds_end": null,
"cds_length": 2301,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001297670.3",
"gene_hgnc_id": 30281,
"gene_symbol": "RGL1",
"hgvs_c": "c.419+1825A>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001284599.1",
"strand": true,
"transcript": "NM_001297670.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 757,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3574,
"cdna_start": null,
"cds_end": null,
"cds_length": 2274,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000888236.1",
"gene_hgnc_id": 30281,
"gene_symbol": "RGL1",
"hgvs_c": "c.425+1825A>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558295.1",
"strand": true,
"transcript": "ENST00000888236.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 739,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4638,
"cdna_start": null,
"cds_end": null,
"cds_length": 2220,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001297672.3",
"gene_hgnc_id": 30281,
"gene_symbol": "RGL1",
"hgvs_c": "c.425+1825A>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001284601.1",
"strand": true,
"transcript": "NM_001297672.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 739,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4637,
"cdna_start": null,
"cds_end": null,
"cds_length": 2220,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000966019.1",
"gene_hgnc_id": 30281,
"gene_symbol": "RGL1",
"hgvs_c": "c.425+1825A>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636078.1",
"strand": true,
"transcript": "ENST00000966019.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
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"feature": "ENST00000888232.1",
"gene_hgnc_id": 30281,
"gene_symbol": "RGL1",
"hgvs_c": "c.314+1825A>T",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558291.1",
"strand": true,
"transcript": "ENST00000888232.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"consequences": [
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],
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"feature": "ENST00000888233.1",
"gene_hgnc_id": 30281,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000558292.1",
"strand": true,
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},
{
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],
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"feature": "ENST00000888234.1",
"gene_hgnc_id": 30281,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000558293.1",
"strand": true,
"transcript": "ENST00000888234.1",
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},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 16,
"exon_rank": null,
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"feature": "ENST00000888237.1",
"gene_hgnc_id": 30281,
"gene_symbol": "RGL1",
"hgvs_c": "c.314+1825A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000558296.1",
"strand": true,
"transcript": "ENST00000888237.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 20,
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"feature": "XM_011509339.4",
"gene_hgnc_id": 30281,
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"hgvs_c": "c.530+1825A>T",
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"intron_rank": 6,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011507641.1",
"strand": true,
"transcript": "XM_011509339.4",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 20,
"exon_rank": null,
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"feature": "XM_047415677.1",
"gene_hgnc_id": 30281,
"gene_symbol": "RGL1",
"hgvs_c": "c.530+1825A>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047271633.1",
"strand": true,
"transcript": "XM_047415677.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
"cds_length": 2157,
"cds_start": null,
"consequences": [
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],
"exon_count": 18,
"exon_rank": null,
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"feature": "XM_011509341.2",
"gene_hgnc_id": 30281,
"gene_symbol": "RGL1",
"hgvs_c": "c.530+1825A>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011507643.1",
"strand": true,
"transcript": "XM_011509341.2",
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},
{
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"consequences": [
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],
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"feature": "XM_047415682.1",
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"protein_coding": true,
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"strand": true,
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},
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],
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"feature": "XM_017000756.3",
"gene_hgnc_id": 30281,
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"protein_coding": true,
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"strand": true,
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},
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"consequences": [
"intron_variant"
],
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"exon_rank": null,
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"feature": "XM_047415686.1",
"gene_hgnc_id": 30281,
"gene_symbol": "RGL1",
"hgvs_c": "c.419+1825A>T",
"hgvs_p": null,
"intron_rank": 4,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047271642.1",
"strand": true,
"transcript": "XM_047415686.1",
"transcript_support_level": 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": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047415687.1",
"gene_hgnc_id": 30281,
"gene_symbol": "RGL1",
"hgvs_c": "c.419+1825A>T",
"hgvs_p": null,
"intron_rank": 5,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047271643.1",
"strand": true,
"transcript": "XM_047415687.1",
"transcript_support_level": null
},
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"biotype": "protein_coding",
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}