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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: 4-186275785-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=186275785&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"effects": [
"splice_acceptor_variant",
"intron_variant"
],
"gene_symbol": "F11",
"hgnc_id": 3529,
"hgvs_c": "c.486-2A>G",
"hgvs_p": null,
"inheritance_mode": "AR,AD,SD",
"pathogenic_score": 12,
"score": 12,
"transcript": "NM_000128.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_score": 12,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.06,
"chr": "4",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "Hereditary factor XI deficiency disease,not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": -0.05999999865889549,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 625,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3053,
"cdna_start": null,
"cds_end": null,
"cds_length": 1878,
"cds_start": null,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000128.4",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.486-2A>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000403665.7",
"protein_coding": true,
"protein_id": "NP_000119.1",
"strand": true,
"transcript": "NM_000128.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 625,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3053,
"cdna_start": null,
"cds_end": null,
"cds_length": 1878,
"cds_start": null,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000403665.7",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.486-2A>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000128.4",
"protein_coding": true,
"protein_id": "ENSP00000384957.2",
"strand": true,
"transcript": "ENST00000403665.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 687,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2317,
"cdna_start": null,
"cds_end": null,
"cds_length": 2064,
"cds_start": null,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000886358.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.486-2A>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556417.1",
"strand": true,
"transcript": "ENST00000886358.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 625,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4679,
"cdna_start": null,
"cds_end": null,
"cds_length": 1878,
"cds_start": null,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000886339.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.486-2A>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556398.1",
"strand": true,
"transcript": "ENST00000886339.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 625,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4282,
"cdna_start": null,
"cds_end": null,
"cds_length": 1878,
"cds_start": null,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000886343.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.486-2A>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556402.1",
"strand": true,
"transcript": "ENST00000886343.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 625,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2572,
"cdna_start": null,
"cds_end": null,
"cds_length": 1878,
"cds_start": null,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000886347.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.486-2A>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556406.1",
"strand": true,
"transcript": "ENST00000886347.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 625,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2674,
"cdna_start": null,
"cds_end": null,
"cds_length": 1878,
"cds_start": null,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000886351.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.486-2A>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556410.1",
"strand": true,
"transcript": "ENST00000886351.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 625,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2248,
"cdna_start": null,
"cds_end": null,
"cds_length": 1878,
"cds_start": null,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000886352.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.486-2A>G",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556411.1",
"strand": true,
"transcript": "ENST00000886352.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2243,
"cdna_start": null,
"cds_end": null,
"cds_length": 1878,
"cds_start": null,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000886355.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.486-2A>G",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556414.1",
"strand": true,
"transcript": "ENST00000886355.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2178,
"cdna_start": null,
"cds_end": null,
"cds_length": 1878,
"cds_start": null,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000886360.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.486-2A>G",
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"intron_rank": 5,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000556419.1",
"strand": true,
"transcript": "ENST00000886360.1",
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},
{
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"cdna_start": null,
"cds_end": null,
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"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
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"feature": "ENST00000886359.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.486-2A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000556418.1",
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},
{
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"consequences": [
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],
"exon_count": 15,
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"feature": "NM_001440590.1",
"gene_hgnc_id": 3529,
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"mane_plus": null,
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"protein_coding": true,
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},
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"consequences": [
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],
"exon_count": 15,
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"feature": "ENST00000886342.1",
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"gene_symbol": "F11",
"hgvs_c": "c.486-2A>G",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556401.1",
"strand": true,
"transcript": "ENST00000886342.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
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"feature": "NM_001440593.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.486-2A>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001427522.1",
"strand": true,
"transcript": "NM_001440593.1",
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},
{
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"consequences": [
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"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
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"feature": "NM_001440596.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.486-2A>G",
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"intron_rank": 5,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001427525.1",
"strand": true,
"transcript": "NM_001440596.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cds_length": 1728,
"cds_start": null,
"consequences": [
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],
"exon_count": 14,
"exon_rank": null,
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"feature": "ENST00000886357.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.485+1510A>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000556416.1",
"strand": true,
"transcript": "ENST00000886357.1",
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},
{
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"biotype": "protein_coding",
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],
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"feature": "NM_001440605.1",
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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": "ENST00000886340.1",
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"protein_coding": true,
"protein_id": "ENSP00000556399.1",
"strand": true,
"transcript": "ENST00000886340.1",
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},
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"consequences": [
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],
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"feature": "ENST00000886341.1",
"gene_hgnc_id": 3529,
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"protein_coding": true,
"protein_id": "ENSP00000556400.1",
"strand": true,
"transcript": "ENST00000886341.1",
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},
{
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
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"feature": "ENST00000886348.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.485+1510A>G",
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"intron_rank": 5,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000556407.1",
"strand": true,
"transcript": "ENST00000886348.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
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"feature": "ENST00000886350.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.485+1510A>G",
"hgvs_p": null,
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