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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: 1-51795458-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=51795458&ref=G&alt=A&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": "NRDC",
"hgnc_id": 7995,
"hgvs_c": "c.2809-604C>T",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_002525.3",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000266993",
"hgnc_id": null,
"hgvs_c": "n.248G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000591675.1",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "OSBPL9",
"hgnc_id": 16386,
"hgvs_c": "c.*1-2497G>A",
"hgvs_p": null,
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000625138.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 31101,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"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": 1151,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3594,
"cdna_start": null,
"cds_end": null,
"cds_length": 3456,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001101662.2",
"gene_hgnc_id": 7995,
"gene_symbol": "NRDC",
"hgvs_c": "c.2605-604C>T",
"hgvs_p": null,
"intron_rank": 22,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000352171.12",
"protein_coding": true,
"protein_id": "NP_001095132.1",
"strand": false,
"transcript": "NM_001101662.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1151,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3594,
"cdna_start": null,
"cds_end": null,
"cds_length": 3456,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000352171.12",
"gene_hgnc_id": 7995,
"gene_symbol": "NRDC",
"hgvs_c": "c.2605-604C>T",
"hgvs_p": null,
"intron_rank": 22,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001101662.2",
"protein_coding": true,
"protein_id": "ENSP00000262679.8",
"strand": false,
"transcript": "ENST00000352171.12",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1219,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3895,
"cdna_start": null,
"cds_end": null,
"cds_length": 3660,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000354831.11",
"gene_hgnc_id": 7995,
"gene_symbol": "NRDC",
"hgvs_c": "c.2809-604C>T",
"hgvs_p": null,
"intron_rank": 24,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000346890.7",
"strand": false,
"transcript": "ENST00000354831.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1087,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3417,
"cdna_start": null,
"cds_end": null,
"cds_length": 3264,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000539524.5",
"gene_hgnc_id": 7995,
"gene_symbol": "NRDC",
"hgvs_c": "c.2413-604C>T",
"hgvs_p": null,
"intron_rank": 24,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000444416.1",
"strand": false,
"transcript": "ENST00000539524.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1234,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3870,
"cdna_start": null,
"cds_end": null,
"cds_length": 3705,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000911777.1",
"gene_hgnc_id": 7995,
"gene_symbol": "NRDC",
"hgvs_c": "c.2854-604C>T",
"hgvs_p": null,
"intron_rank": 24,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581836.1",
"strand": false,
"transcript": "ENST00000911777.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1219,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3798,
"cdna_start": null,
"cds_end": null,
"cds_length": 3660,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_002525.3",
"gene_hgnc_id": 7995,
"gene_symbol": "NRDC",
"hgvs_c": "c.2809-604C>T",
"hgvs_p": null,
"intron_rank": 24,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_002516.2",
"strand": false,
"transcript": "NM_002525.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1219,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3828,
"cdna_start": null,
"cds_end": null,
"cds_length": 3660,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000963645.1",
"gene_hgnc_id": 7995,
"gene_symbol": "NRDC",
"hgvs_c": "c.2809-604C>T",
"hgvs_p": null,
"intron_rank": 24,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633704.1",
"strand": false,
"transcript": "ENST00000963645.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 1216,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3803,
"cdna_start": null,
"cds_end": null,
"cds_length": 3651,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000911782.1",
"gene_hgnc_id": 7995,
"gene_symbol": "NRDC",
"hgvs_c": "c.2800-604C>T",
"hgvs_p": null,
"intron_rank": 24,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581841.1",
"strand": false,
"transcript": "ENST00000911782.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 1202,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3730,
"cdna_start": null,
"cds_end": null,
"cds_length": 3609,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000911787.1",
"gene_hgnc_id": 7995,
"gene_symbol": "NRDC",
"hgvs_c": "c.2758-604C>T",
"hgvs_p": null,
"intron_rank": 24,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581846.1",
"strand": false,
"transcript": "ENST00000911787.1",
"transcript_support_level": null
},
{
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"aa_length": 1201,
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 3755,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000963648.1",
"gene_hgnc_id": 7995,
"gene_symbol": "NRDC",
"hgvs_c": "c.2755-604C>T",
"hgvs_p": null,
"intron_rank": 24,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633707.1",
"strand": false,
"transcript": "ENST00000963648.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3739,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 32,
"exon_rank": null,
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"feature": "ENST00000911778.1",
"gene_hgnc_id": 7995,
"gene_symbol": "NRDC",
"hgvs_c": "c.2809-604C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000581837.1",
"strand": false,
"transcript": "ENST00000911778.1",
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},
{
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],
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"feature": "ENST00000888752.1",
"gene_hgnc_id": 7995,
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"protein_coding": true,
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},
{
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"consequences": [
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],
"exon_count": 32,
"exon_rank": null,
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"feature": "ENST00000911788.1",
"gene_hgnc_id": 7995,
"gene_symbol": "NRDC",
"hgvs_c": "c.2686-604C>T",
"hgvs_p": null,
"intron_rank": 23,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000581847.1",
"strand": false,
"transcript": "ENST00000911788.1",
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},
{
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],
"exon_count": 32,
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"feature": "ENST00000888746.1",
"gene_hgnc_id": 7995,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000558805.1",
"strand": false,
"transcript": "ENST00000888746.1",
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},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 31,
"exon_rank": null,
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"feature": "ENST00000888750.1",
"gene_hgnc_id": 7995,
"gene_symbol": "NRDC",
"hgvs_c": "c.2632-604C>T",
"hgvs_p": null,
"intron_rank": 22,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000558809.1",
"strand": false,
"transcript": "ENST00000888750.1",
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},
{
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000911781.1",
"gene_hgnc_id": 7995,
"gene_symbol": "NRDC",
"hgvs_c": "c.2629-604C>T",
"hgvs_p": null,
"intron_rank": 23,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000581840.1",
"strand": false,
"transcript": "ENST00000911781.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000888744.1",
"gene_hgnc_id": 7995,
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},
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"consequences": [
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],
"exon_count": 31,
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"feature": "ENST00000963644.1",
"gene_hgnc_id": 7995,
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"mane_plus": null,
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"protein_coding": true,
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"strand": false,
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},
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"consequences": [
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],
"exon_count": 31,
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"feature": "ENST00000911775.1",
"gene_hgnc_id": 7995,
"gene_symbol": "NRDC",
"hgvs_c": "c.2605-604C>T",
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"intron_rank": 22,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000581834.1",
"strand": false,
"transcript": "ENST00000911775.1",
"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": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000888749.1",
"gene_hgnc_id": 7995,
"gene_symbol": "NRDC",
"hgvs_c": "c.2602-604C>T",
"hgvs_p": null,
"intron_rank": 22,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558808.1",
"strand": false,
"transcript": "ENST00000888749.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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