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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: 4-76189212-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=76189212&ref=C&alt=G&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": "SCARB2",
"hgnc_id": 1665,
"hgvs_c": "c.275+6495G>C",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_005506.4",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000286074",
"hgnc_id": 58820,
"hgvs_c": "n.103-10754C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000651366.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 44755,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.78,
"chr": "4",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7799999713897705,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 478,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4694,
"cdna_start": null,
"cds_end": null,
"cds_length": 1437,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_005506.4",
"gene_hgnc_id": 1665,
"gene_symbol": "SCARB2",
"hgvs_c": "c.275+6495G>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000264896.8",
"protein_coding": true,
"protein_id": "NP_005497.1",
"strand": false,
"transcript": "NM_005506.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 478,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4694,
"cdna_start": null,
"cds_end": null,
"cds_length": 1437,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000264896.8",
"gene_hgnc_id": 1665,
"gene_symbol": "SCARB2",
"hgvs_c": "c.275+6495G>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005506.4",
"protein_coding": true,
"protein_id": "ENSP00000264896.2",
"strand": false,
"transcript": "ENST00000264896.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 518,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1734,
"cdna_start": null,
"cds_end": null,
"cds_length": 1557,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000640634.1",
"gene_hgnc_id": 1665,
"gene_symbol": "SCARB2",
"hgvs_c": "c.251+6495G>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492737.1",
"strand": false,
"transcript": "ENST00000640634.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 486,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2052,
"cdna_start": null,
"cds_end": null,
"cds_length": 1461,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000862445.1",
"gene_hgnc_id": 1665,
"gene_symbol": "SCARB2",
"hgvs_c": "c.275+6495G>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532504.1",
"strand": false,
"transcript": "ENST00000862445.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 475,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4471,
"cdna_start": null,
"cds_end": null,
"cds_length": 1428,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000639145.1",
"gene_hgnc_id": 1665,
"gene_symbol": "SCARB2",
"hgvs_c": "c.275+6495G>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492831.1",
"strand": false,
"transcript": "ENST00000639145.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
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"aa_length": 471,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3191,
"cdna_start": null,
"cds_end": null,
"cds_length": 1416,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000862444.1",
"gene_hgnc_id": 1665,
"gene_symbol": "SCARB2",
"hgvs_c": "c.275+6495G>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532503.1",
"strand": false,
"transcript": "ENST00000862444.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 470,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3255,
"cdna_start": null,
"cds_end": null,
"cds_length": 1413,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000640957.1",
"gene_hgnc_id": 1665,
"gene_symbol": "SCARB2",
"hgvs_c": "c.275+6495G>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492004.1",
"strand": false,
"transcript": "ENST00000640957.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 464,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4699,
"cdna_start": null,
"cds_end": null,
"cds_length": 1395,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000862443.1",
"gene_hgnc_id": 1665,
"gene_symbol": "SCARB2",
"hgvs_c": "c.275+6495G>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532502.1",
"strand": false,
"transcript": "ENST00000862443.1",
"transcript_support_level": null
},
{
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"aa_length": 449,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4608,
"cdna_start": null,
"cds_end": null,
"cds_length": 1350,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
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"feature": "ENST00000640640.1",
"gene_hgnc_id": 1665,
"gene_symbol": "SCARB2",
"hgvs_c": "c.275+6495G>C",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000492246.1",
"strand": false,
"transcript": "ENST00000640640.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"cds_length": 1317,
"cds_start": null,
"consequences": [
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],
"exon_count": 11,
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"feature": "ENST00000638603.1",
"gene_hgnc_id": 1665,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000491728.1",
"strand": false,
"transcript": "ENST00000638603.1",
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},
{
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"biotype": "protein_coding",
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"cdna_length": 1918,
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"consequences": [
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],
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"feature": "ENST00000921155.1",
"gene_hgnc_id": 1665,
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"protein_id": "ENSP00000591214.1",
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},
{
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"consequences": [
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],
"exon_count": 11,
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"feature": "ENST00000862442.1",
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"protein_coding": true,
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},
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"consequences": [
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],
"exon_count": 9,
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"feature": "NM_001204255.2",
"gene_hgnc_id": 1665,
"gene_symbol": "SCARB2",
"hgvs_c": "c.275+6495G>C",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001191184.1",
"strand": false,
"transcript": "NM_001204255.2",
"transcript_support_level": null
},
{
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],
"exon_count": 9,
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"feature": "ENST00000452464.6",
"gene_hgnc_id": 1665,
"gene_symbol": "SCARB2",
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"protein_id": "ENSP00000399154.2",
"strand": false,
"transcript": "ENST00000452464.6",
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},
{
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"consequences": [
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],
"exon_count": 12,
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"feature": "ENST00000638295.1",
"gene_hgnc_id": 1665,
"gene_symbol": "SCARB2",
"hgvs_c": "c.-200+6495G>C",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000492288.1",
"strand": false,
"transcript": "ENST00000638295.1",
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},
{
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"consequences": [
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],
"exon_count": 5,
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"feature": "ENST00000639738.1",
"gene_hgnc_id": 1665,
"gene_symbol": "SCARB2",
"hgvs_c": "c.275+6495G>C",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000491792.1",
"strand": false,
"transcript": "ENST00000639738.1",
"transcript_support_level": 5
},
{
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],
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"feature": "XM_047416429.1",
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"strand": false,
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},
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],
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"feature": "XM_047416430.1",
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"protein_coding": true,
"protein_id": "XP_047272386.1",
"strand": false,
"transcript": "XM_047416430.1",
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},
{
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],
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"feature": "ENST00000502908.2",
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"mane_plus": null,
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"protein_coding": false,
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"strand": false,
"transcript": "ENST00000502908.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
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"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
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"cds_end": null,
"cds_length": null,
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"consequences": [
"intron_variant"
],
"exon_count": 4,
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"feature": "ENST00000509994.2",
"gene_hgnc_id": 1665,
"gene_symbol": "SCARB2",
"hgvs_c": "n.276-4432G>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": false,
"protein_id": "ENSP00000420988.1",
"strand": false,
"transcript": "ENST00000509994.2",
"transcript_support_level": 4
},
{
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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": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000638372.1",
"gene_hgnc_id": 1665,
"gene_symbol": "SCARB2",
"hgvs_c": "n.527+6495G>C",
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