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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: 18-50919433-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=50919433&ref=T&alt=C&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": "ME2",
"hgnc_id": 6984,
"hgvs_c": "c.735-1023T>C",
"hgvs_p": null,
"inheritance_mode": "Unknown",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_002396.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 103810,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.97,
"chr": "18",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9700000286102295,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 584,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9031,
"cdna_start": null,
"cds_end": null,
"cds_length": 1755,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_002396.5",
"gene_hgnc_id": 6984,
"gene_symbol": "ME2",
"hgvs_c": "c.735-1023T>C",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000321341.11",
"protein_coding": true,
"protein_id": "NP_002387.1",
"strand": true,
"transcript": "NM_002396.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 584,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9031,
"cdna_start": null,
"cds_end": null,
"cds_length": 1755,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000321341.11",
"gene_hgnc_id": 6984,
"gene_symbol": "ME2",
"hgvs_c": "c.735-1023T>C",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002396.5",
"protein_coding": true,
"protein_id": "ENSP00000321070.5",
"strand": true,
"transcript": "ENST00000321341.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 479,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2492,
"cdna_start": null,
"cds_end": null,
"cds_length": 1440,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000382927.3",
"gene_hgnc_id": 6984,
"gene_symbol": "ME2",
"hgvs_c": "c.735-1023T>C",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000372384.2",
"strand": true,
"transcript": "ENST00000382927.3",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 584,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2998,
"cdna_start": null,
"cds_end": null,
"cds_length": 1755,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901565.1",
"gene_hgnc_id": 6984,
"gene_symbol": "ME2",
"hgvs_c": "c.735-1023T>C",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571624.1",
"strand": true,
"transcript": "ENST00000901565.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 584,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2875,
"cdna_start": null,
"cds_end": null,
"cds_length": 1755,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000935531.1",
"gene_hgnc_id": 6984,
"gene_symbol": "ME2",
"hgvs_c": "c.735-1023T>C",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605590.1",
"strand": true,
"transcript": "ENST00000935531.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 584,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2962,
"cdna_start": null,
"cds_end": null,
"cds_length": 1755,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000935532.1",
"gene_hgnc_id": 6984,
"gene_symbol": "ME2",
"hgvs_c": "c.735-1023T>C",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605591.1",
"strand": true,
"transcript": "ENST00000935532.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 565,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2471,
"cdna_start": null,
"cds_end": null,
"cds_length": 1698,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000638937.1",
"gene_hgnc_id": 6984,
"gene_symbol": "ME2",
"hgvs_c": "c.735-1023T>C",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492393.1",
"strand": true,
"transcript": "ENST00000638937.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 551,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2478,
"cdna_start": null,
"cds_end": null,
"cds_length": 1656,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901567.1",
"gene_hgnc_id": 6984,
"gene_symbol": "ME2",
"hgvs_c": "c.735-1023T>C",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571626.1",
"strand": true,
"transcript": "ENST00000901567.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 547,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2476,
"cdna_start": null,
"cds_end": null,
"cds_length": 1644,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000640965.1",
"gene_hgnc_id": 6984,
"gene_symbol": "ME2",
"hgvs_c": "c.624-1023T>C",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491954.1",
"strand": true,
"transcript": "ENST00000640965.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 546,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2331,
"cdna_start": null,
"cds_end": null,
"cds_length": 1641,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000639850.1",
"gene_hgnc_id": 6984,
"gene_symbol": "ME2",
"hgvs_c": "c.735-1023T>C",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491152.1",
"strand": true,
"transcript": "ENST00000639850.1",
"transcript_support_level": 5
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2289,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000638410.1",
"gene_hgnc_id": 6984,
"gene_symbol": "ME2",
"hgvs_c": "c.735-1023T>C",
"hgvs_p": null,
"intron_rank": 7,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492272.1",
"strand": true,
"transcript": "ENST00000638410.1",
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},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2262,
"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 15,
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"feature": "ENST00000639255.1",
"gene_hgnc_id": 6984,
"gene_symbol": "ME2",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000492085.1",
"strand": true,
"transcript": "ENST00000639255.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
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],
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"feature": "ENST00000901566.1",
"gene_hgnc_id": 6984,
"gene_symbol": "ME2",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000571625.1",
"strand": true,
"transcript": "ENST00000901566.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 2701,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000953407.1",
"gene_hgnc_id": 6984,
"gene_symbol": "ME2",
"hgvs_c": "c.735-1023T>C",
"hgvs_p": null,
"intron_rank": 7,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000623466.1",
"strand": true,
"transcript": "ENST00000953407.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_start": null,
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"consequences": [
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],
"exon_count": 14,
"exon_rank": null,
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"feature": "NM_001168335.2",
"gene_hgnc_id": 6984,
"gene_symbol": "ME2",
"hgvs_c": "c.735-1023T>C",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001161807.1",
"strand": true,
"transcript": "NM_001168335.2",
"transcript_support_level": null
},
{
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"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": null,
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"consequences": [
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],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000585680.2",
"gene_hgnc_id": 6984,
"gene_symbol": "ME2",
"hgvs_c": "n.*257-1023T>C",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000491793.1",
"strand": true,
"transcript": "ENST00000585680.2",
"transcript_support_level": 5
},
{
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"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
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],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000589330.2",
"gene_hgnc_id": 6984,
"gene_symbol": "ME2",
"hgvs_c": "n.1715-1023T>C",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": false,
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"strand": true,
"transcript": "ENST00000589330.2",
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},
{
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"consequences": [
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],
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"feature": "ENST00000639115.1",
"gene_hgnc_id": 6984,
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"protein_coding": false,
"protein_id": "ENSP00000492733.1",
"strand": true,
"transcript": "ENST00000639115.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000639398.1",
"gene_hgnc_id": 6984,
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"protein_coding": false,
"protein_id": "ENSP00000492309.1",
"strand": true,
"transcript": "ENST00000639398.1",
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},
{
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"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000639612.1",
"gene_hgnc_id": 6984,
"gene_symbol": "ME2",
"hgvs_c": "n.*95-1023T>C",
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"intron_rank": 4,
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"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000492638.1",
"strand": true,
"transcript": "ENST00000639612.1",
"transcript_support_level": 5
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5016,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000639663.1",
"gene_hgnc_id": 6984,
"gene_symbol": "ME2",
"hgvs_c": "n.1119-1023T>C",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000639663.1",
"transcript_support_level": 5
},
{
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"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
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