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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: 11-94447249-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=94447249&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MRE11",
"hgnc_id": 7230,
"hgvs_c": "c.1753G>A",
"hgvs_p": "p.Ala585Thr",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_001440460.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 42,
"alphamissense_prediction": null,
"alphamissense_score": 0.064,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.54,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Ataxia-telangiectasia-like disorder,Ataxia-telangiectasia-like disorder 1,Hereditary cancer-predisposing syndrome,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.06120142340660095,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 708,
"aa_ref": "A",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6841,
"cdna_start": 1912,
"cds_end": null,
"cds_length": 2127,
"cds_start": 1753,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_005591.4",
"gene_hgnc_id": 7230,
"gene_symbol": "MRE11",
"hgvs_c": "c.1753G>A",
"hgvs_p": "p.Ala585Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000323929.8",
"protein_coding": true,
"protein_id": "NP_005582.1",
"strand": false,
"transcript": "NM_005591.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 708,
"aa_ref": "A",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6841,
"cdna_start": 1912,
"cds_end": null,
"cds_length": 2127,
"cds_start": 1753,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000323929.8",
"gene_hgnc_id": 7230,
"gene_symbol": "MRE11",
"hgvs_c": "c.1753G>A",
"hgvs_p": "p.Ala585Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005591.4",
"protein_coding": true,
"protein_id": "ENSP00000325863.4",
"strand": false,
"transcript": "ENST00000323929.8",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 680,
"aa_ref": "A",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2588,
"cdna_start": 2049,
"cds_end": null,
"cds_length": 2043,
"cds_start": 1753,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000323977.7",
"gene_hgnc_id": 7230,
"gene_symbol": "MRE11",
"hgvs_c": "c.1753G>A",
"hgvs_p": "p.Ala585Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000326094.3",
"strand": false,
"transcript": "ENST00000323977.7",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 725,
"aa_ref": "A",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6892,
"cdna_start": 1912,
"cds_end": null,
"cds_length": 2178,
"cds_start": 1753,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001440460.1",
"gene_hgnc_id": 7230,
"gene_symbol": "MRE11",
"hgvs_c": "c.1753G>A",
"hgvs_p": "p.Ala585Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427389.1",
"strand": false,
"transcript": "NM_001440460.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 725,
"aa_ref": "A",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6999,
"cdna_start": 2019,
"cds_end": null,
"cds_length": 2178,
"cds_start": 1753,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001440461.1",
"gene_hgnc_id": 7230,
"gene_symbol": "MRE11",
"hgvs_c": "c.1753G>A",
"hgvs_p": "p.Ala585Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427390.1",
"strand": false,
"transcript": "NM_001440461.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 725,
"aa_ref": "A",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2681,
"cdna_start": 2015,
"cds_end": null,
"cds_length": 2178,
"cds_start": 1753,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000936196.1",
"gene_hgnc_id": 7230,
"gene_symbol": "MRE11",
"hgvs_c": "c.1753G>A",
"hgvs_p": "p.Ala585Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606255.1",
"strand": false,
"transcript": "ENST00000936196.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 711,
"aa_ref": "A",
"aa_start": 588,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2684,
"cdna_start": 2051,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1762,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000407439.7",
"gene_hgnc_id": 7230,
"gene_symbol": "MRE11",
"hgvs_c": "c.1762G>A",
"hgvs_p": "p.Ala588Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385614.3",
"strand": false,
"transcript": "ENST00000407439.7",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 708,
"aa_ref": "A",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6948,
"cdna_start": 2019,
"cds_end": null,
"cds_length": 2127,
"cds_start": 1753,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001440462.1",
"gene_hgnc_id": 7230,
"gene_symbol": "MRE11",
"hgvs_c": "c.1753G>A",
"hgvs_p": "p.Ala585Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427391.1",
"strand": false,
"transcript": "NM_001440462.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 708,
"aa_ref": "A",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6939,
"cdna_start": 2010,
"cds_end": null,
"cds_length": 2127,
"cds_start": 1753,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001440463.1",
"gene_hgnc_id": 7230,
"gene_symbol": "MRE11",
"hgvs_c": "c.1753G>A",
"hgvs_p": "p.Ala585Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427392.1",
"strand": false,
"transcript": "NM_001440463.1",
"transcript_support_level": null
},
{
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"aa_length": 708,
"aa_ref": "A",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5205,
"cdna_start": 2053,
"cds_end": null,
"cds_length": 2127,
"cds_start": 1753,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000856310.1",
"gene_hgnc_id": 7230,
"gene_symbol": "MRE11",
"hgvs_c": "c.1753G>A",
"hgvs_p": "p.Ala585Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526369.1",
"strand": false,
"transcript": "ENST00000856310.1",
"transcript_support_level": null
},
{
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"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2657,
"cdna_start": 2022,
"cds_end": null,
"cds_length": 2127,
"cds_start": 1753,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000936197.1",
"gene_hgnc_id": 7230,
"gene_symbol": "MRE11",
"hgvs_c": "c.1753G>A",
"hgvs_p": "p.Ala585Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606256.1",
"strand": false,
"transcript": "ENST00000936197.1",
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},
{
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"canonical": false,
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"cdna_start": 1912,
"cds_end": null,
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"consequences": [
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],
"exon_count": 20,
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"feature": "NM_001330347.2",
"gene_hgnc_id": 7230,
"gene_symbol": "MRE11",
"hgvs_c": "c.1753G>A",
"hgvs_p": "p.Ala585Thr",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001317276.1",
"strand": false,
"transcript": "NM_001330347.2",
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},
{
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"consequences": [
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],
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"feature": "NM_001440464.1",
"gene_hgnc_id": 7230,
"gene_symbol": "MRE11",
"hgvs_c": "c.1753G>A",
"hgvs_p": "p.Ala585Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427393.1",
"strand": false,
"transcript": "NM_001440464.1",
"transcript_support_level": null
},
{
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"aa_ref": "A",
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"biotype": "protein_coding",
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"cdna_start": 1903,
"cds_end": null,
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"consequences": [
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],
"exon_count": 20,
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"feature": "NM_001440465.1",
"gene_hgnc_id": 7230,
"gene_symbol": "MRE11",
"hgvs_c": "c.1753G>A",
"hgvs_p": "p.Ala585Thr",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001427394.1",
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"transcript": "NM_001440465.1",
"transcript_support_level": null
},
{
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"cdna_start": 1986,
"cds_end": null,
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"cds_start": 1753,
"consequences": [
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],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000393241.8",
"gene_hgnc_id": 7230,
"gene_symbol": "MRE11",
"hgvs_c": "c.1753G>A",
"hgvs_p": "p.Ala585Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376933.4",
"strand": false,
"transcript": "ENST00000393241.8",
"transcript_support_level": 5
},
{
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"aa_ref": "A",
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"biotype": "protein_coding",
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"cdna_start": 2019,
"cds_end": null,
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"consequences": [
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],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000856311.1",
"gene_hgnc_id": 7230,
"gene_symbol": "MRE11",
"hgvs_c": "c.1753G>A",
"hgvs_p": "p.Ala585Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526370.1",
"strand": false,
"transcript": "ENST00000856311.1",
"transcript_support_level": null
},
{
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"aa_ref": "A",
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 20,
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"feature": "ENST00000856313.1",
"gene_hgnc_id": 7230,
"gene_symbol": "MRE11",
"hgvs_c": "c.1753G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000526372.1",
"strand": false,
"transcript": "ENST00000856313.1",
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},
{
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],
"exon_count": 20,
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"feature": "ENST00000944920.1",
"gene_hgnc_id": 7230,
"gene_symbol": "MRE11",
"hgvs_c": "c.1750G>A",
"hgvs_p": "p.Ala584Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614979.1",
"strand": false,
"transcript": "ENST00000944920.1",
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},
{
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"aa_ref": "A",
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"biotype": "protein_coding",
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"cdna_start": 1942,
"cds_end": null,
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"consequences": [
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],
"exon_count": 20,
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"feature": "ENST00000856316.1",
"gene_hgnc_id": 7230,
"gene_symbol": "MRE11",
"hgvs_c": "c.1753G>A",
"hgvs_p": "p.Ala585Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526375.1",
"strand": false,
"transcript": "ENST00000856316.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 697,
"aa_ref": "A",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6915,
"cdna_start": 2019,
"cds_end": null,
"cds_length": 2094,
"cds_start": 1753,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001440466.1",
"gene_hgnc_id": 7230,
"gene_symbol": "MRE11",
"hgvs_c": "c.1753G>A",
"hgvs_p": "p.Ala585Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427395.1",
"strand": false,
"transcript": "NM_001440466.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 693,
"aa_ref": "A",
"aa_start": 570,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2635,
"cdna_start": 1867,
"cds_end": null,
"cds_length": 2082,
"cds_start": 1708,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000944921.1",
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