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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: 8-66456949-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=66456949&ref=C&alt=T&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": "ADHFE1",
"hgnc_id": 16354,
"hgvs_c": "c.1065+54C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_144650.3",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000285791",
"hgnc_id": null,
"hgvs_c": "n.*284+54C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000648156.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 249903,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.79,
"chr": "8",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7900000214576721,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 467,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1972,
"cdna_start": null,
"cds_end": null,
"cds_length": 1404,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_144650.3",
"gene_hgnc_id": 16354,
"gene_symbol": "ADHFE1",
"hgvs_c": "c.1065+54C>T",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000396623.8",
"protein_coding": true,
"protein_id": "NP_653251.2",
"strand": true,
"transcript": "NM_144650.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 467,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1972,
"cdna_start": null,
"cds_end": null,
"cds_length": 1404,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000396623.8",
"gene_hgnc_id": 16354,
"gene_symbol": "ADHFE1",
"hgvs_c": "c.1065+54C>T",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_144650.3",
"protein_coding": true,
"protein_id": "ENSP00000379865.3",
"strand": true,
"transcript": "ENST00000396623.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2229,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000424777.6",
"gene_hgnc_id": 16354,
"gene_symbol": "ADHFE1",
"hgvs_c": "n.*502+54C>T",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000410883.2",
"strand": true,
"transcript": "ENST00000424777.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2179,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000426810.5",
"gene_hgnc_id": 16354,
"gene_symbol": "ADHFE1",
"hgvs_c": "n.*1250+54C>T",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000406905.1",
"strand": true,
"transcript": "ENST00000426810.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 4901,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000648156.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000285791",
"hgvs_c": "n.*284+54C>T",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000497007.1",
"strand": true,
"transcript": "ENST00000648156.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 474,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1896,
"cdna_start": null,
"cds_end": null,
"cds_length": 1425,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000862709.1",
"gene_hgnc_id": 16354,
"gene_symbol": "ADHFE1",
"hgvs_c": "c.1065+54C>T",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532768.1",
"strand": true,
"transcript": "ENST00000862709.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 466,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2003,
"cdna_start": null,
"cds_end": null,
"cds_length": 1401,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000950130.1",
"gene_hgnc_id": 16354,
"gene_symbol": "ADHFE1",
"hgvs_c": "c.1062+57C>T",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620189.1",
"strand": true,
"transcript": "ENST00000950130.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 466,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1984,
"cdna_start": null,
"cds_end": null,
"cds_length": 1401,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000950131.1",
"gene_hgnc_id": 16354,
"gene_symbol": "ADHFE1",
"hgvs_c": "c.1065+54C>T",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620190.1",
"strand": true,
"transcript": "ENST00000950131.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 441,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1912,
"cdna_start": null,
"cds_end": null,
"cds_length": 1326,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000862702.1",
"gene_hgnc_id": 16354,
"gene_symbol": "ADHFE1",
"hgvs_c": "c.987+54C>T",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532761.1",
"strand": true,
"transcript": "ENST00000862702.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1794,
"cdna_start": null,
"cds_end": null,
"cds_length": 1305,
"cds_start": null,
"consequences": [
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],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000862705.1",
"gene_hgnc_id": 16354,
"gene_symbol": "ADHFE1",
"hgvs_c": "c.966+54C>T",
"hgvs_p": null,
"intron_rank": 10,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532764.1",
"strand": true,
"transcript": "ENST00000862705.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1874,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
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"feature": "ENST00000862703.1",
"gene_hgnc_id": 16354,
"gene_symbol": "ADHFE1",
"hgvs_c": "c.954+54C>T",
"hgvs_p": null,
"intron_rank": 11,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000532762.1",
"strand": true,
"transcript": "ENST00000862703.1",
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},
{
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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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"cds_start": null,
"consequences": [
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],
"exon_count": 14,
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"feature": "ENST00000862707.1",
"gene_hgnc_id": 16354,
"gene_symbol": "ADHFE1",
"hgvs_c": "c.951+54C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000532766.1",
"strand": true,
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},
{
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"consequences": [
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],
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"feature": "ENST00000415254.5",
"gene_hgnc_id": 16354,
"gene_symbol": "ADHFE1",
"hgvs_c": "c.921+54C>T",
"hgvs_p": null,
"intron_rank": 12,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000407115.1",
"strand": true,
"transcript": "ENST00000415254.5",
"transcript_support_level": 5
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 12,
"exon_rank": null,
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"feature": "ENST00000862708.1",
"gene_hgnc_id": 16354,
"gene_symbol": "ADHFE1",
"hgvs_c": "c.921+54C>T",
"hgvs_p": null,
"intron_rank": 9,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000532767.1",
"strand": true,
"transcript": "ENST00000862708.1",
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},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000862710.1",
"gene_hgnc_id": 16354,
"gene_symbol": "ADHFE1",
"hgvs_c": "c.612+54C>T",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532769.1",
"strand": true,
"transcript": "ENST00000862710.1",
"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": 576,
"cds_start": null,
"consequences": [
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],
"exon_count": 6,
"exon_rank": null,
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"feature": "ENST00000862706.1",
"gene_hgnc_id": 16354,
"gene_symbol": "ADHFE1",
"hgvs_c": "c.237+54C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532765.1",
"strand": true,
"transcript": "ENST00000862706.1",
"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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"consequences": [
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],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000862704.1",
"gene_hgnc_id": 16354,
"gene_symbol": "ADHFE1",
"hgvs_c": "c.138+54C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000532763.1",
"strand": true,
"transcript": "ENST00000862704.1",
"transcript_support_level": null
},
{
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"biotype": "nonsense_mediated_decay",
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"consequences": [
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],
"exon_count": 13,
"exon_rank": null,
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"feature": "ENST00000276576.11",
"gene_hgnc_id": 16354,
"gene_symbol": "ADHFE1",
"hgvs_c": "n.*901+54C>T",
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"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000276576.7",
"strand": true,
"transcript": "ENST00000276576.11",
"transcript_support_level": 2
},
{
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"biotype": "nonsense_mediated_decay",
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"consequences": [
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],
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"feature": "ENST00000419955.5",
"gene_hgnc_id": 16354,
"gene_symbol": "ADHFE1",
"hgvs_c": "n.*1074+54C>T",
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"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000392040.1",
"strand": true,
"transcript": "ENST00000419955.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
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"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000480040.5",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000285791",
"hgvs_c": "n.140+54C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000480040.5",
"transcript_support_level": 4
},
{
"aa_alt": null,
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"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000496501.5",
"gene_hgnc_id": 16354,
"gene_symbol": "ADHFE1",
"hgvs_c": "n.939+54C>T",
"hgvs_p": null,
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