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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: 1-39562508-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=39562508&ref=A&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": "PABPC4",
"hgnc_id": 8557,
"hgvs_c": "c.1669-92T>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001135653.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 174243,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.68,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6800000071525574,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 660,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3142,
"cdna_start": null,
"cds_end": null,
"cds_length": 1983,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001135653.2",
"gene_hgnc_id": 8557,
"gene_symbol": "PABPC4",
"hgvs_c": "c.1669-92T>C",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000372858.8",
"protein_coding": true,
"protein_id": "NP_001129125.1",
"strand": false,
"transcript": "NM_001135653.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 660,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3142,
"cdna_start": null,
"cds_end": null,
"cds_length": 1983,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000372858.8",
"gene_hgnc_id": 8557,
"gene_symbol": "PABPC4",
"hgvs_c": "c.1669-92T>C",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001135653.2",
"protein_coding": true,
"protein_id": "ENSP00000361949.3",
"strand": false,
"transcript": "ENST00000372858.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 644,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3048,
"cdna_start": null,
"cds_end": null,
"cds_length": 1935,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000372857.7",
"gene_hgnc_id": 8557,
"gene_symbol": "PABPC4",
"hgvs_c": "c.1621-92T>C",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000361948.3",
"strand": false,
"transcript": "ENST00000372857.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 631,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3016,
"cdna_start": null,
"cds_end": null,
"cds_length": 1896,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000372856.7",
"gene_hgnc_id": 8557,
"gene_symbol": "PABPC4",
"hgvs_c": "c.1582-92T>C",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000361947.3",
"strand": false,
"transcript": "ENST00000372856.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 661,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3223,
"cdna_start": null,
"cds_end": null,
"cds_length": 1986,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000916728.1",
"gene_hgnc_id": 8557,
"gene_symbol": "PABPC4",
"hgvs_c": "c.1672-92T>C",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586787.1",
"strand": false,
"transcript": "ENST00000916728.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 659,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3159,
"cdna_start": null,
"cds_end": null,
"cds_length": 1980,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000966511.1",
"gene_hgnc_id": 8557,
"gene_symbol": "PABPC4",
"hgvs_c": "c.1669-92T>C",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636570.1",
"strand": false,
"transcript": "ENST00000966511.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 656,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3128,
"cdna_start": null,
"cds_end": null,
"cds_length": 1971,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000916732.1",
"gene_hgnc_id": 8557,
"gene_symbol": "PABPC4",
"hgvs_c": "c.1657-92T>C",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586791.1",
"strand": false,
"transcript": "ENST00000916732.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 644,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3094,
"cdna_start": null,
"cds_end": null,
"cds_length": 1935,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_003819.4",
"gene_hgnc_id": 8557,
"gene_symbol": "PABPC4",
"hgvs_c": "c.1621-92T>C",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_003810.1",
"strand": false,
"transcript": "NM_003819.4",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 639,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3142,
"cdna_start": null,
"cds_end": null,
"cds_length": 1920,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000916730.1",
"gene_hgnc_id": 8557,
"gene_symbol": "PABPC4",
"hgvs_c": "c.1606-92T>C",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586789.1",
"strand": false,
"transcript": "ENST00000916730.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 631,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3055,
"cdna_start": null,
"cds_end": null,
"cds_length": 1896,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001135654.2",
"gene_hgnc_id": 8557,
"gene_symbol": "PABPC4",
"hgvs_c": "c.1582-92T>C",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001129126.1",
"strand": false,
"transcript": "NM_001135654.2",
"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": 2470,
"cdna_start": null,
"cds_end": null,
"cds_length": 1848,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000372862.7",
"gene_hgnc_id": 8557,
"gene_symbol": "PABPC4",
"hgvs_c": "c.1534-92T>C",
"hgvs_p": null,
"intron_rank": 11,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000361953.3",
"strand": false,
"transcript": "ENST00000372862.7",
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},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 15,
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"feature": "ENST00000966512.1",
"gene_hgnc_id": 8557,
"gene_symbol": "PABPC4",
"hgvs_c": "c.1525-92T>C",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000636571.1",
"strand": false,
"transcript": "ENST00000966512.1",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
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"feature": "ENST00000916729.1",
"gene_hgnc_id": 8557,
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"hgvs_c": "c.1519-92T>C",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000586788.1",
"strand": false,
"transcript": "ENST00000916729.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 15,
"exon_rank": null,
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"feature": "ENST00000677609.1",
"gene_hgnc_id": 8557,
"gene_symbol": "PABPC4",
"hgvs_c": "c.1492-92T>C",
"hgvs_p": null,
"intron_rank": 11,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000504105.1",
"strand": false,
"transcript": "ENST00000677609.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
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"feature": "ENST00000677006.1",
"gene_hgnc_id": 8557,
"gene_symbol": "PABPC4",
"hgvs_c": "c.1483-92T>C",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000504742.1",
"strand": false,
"transcript": "ENST00000677006.1",
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},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 16,
"exon_rank": null,
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"feature": "ENST00000678625.1",
"gene_hgnc_id": 8557,
"gene_symbol": "PABPC4",
"hgvs_c": "c.1441-92T>C",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000504391.1",
"strand": false,
"transcript": "ENST00000678625.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 2862,
"cdna_start": null,
"cds_end": null,
"cds_length": 1662,
"cds_start": null,
"consequences": [
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],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000916731.1",
"gene_hgnc_id": 8557,
"gene_symbol": "PABPC4",
"hgvs_c": "c.1348-92T>C",
"hgvs_p": null,
"intron_rank": 11,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000586790.1",
"strand": false,
"transcript": "ENST00000916731.1",
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},
{
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],
"exon_count": 14,
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"feature": "ENST00000421687.6",
"gene_hgnc_id": 8557,
"gene_symbol": "PABPC4",
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"strand": false,
"transcript": "ENST00000421687.6",
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},
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"consequences": [
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],
"exon_count": 11,
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"feature": "ENST00000527718.2",
"gene_hgnc_id": 8557,
"gene_symbol": "PABPC4",
"hgvs_c": "c.796-92T>C",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000436566.2",
"strand": false,
"transcript": "ENST00000527718.2",
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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": "ENST00000676859.1",
"gene_hgnc_id": 8557,
"gene_symbol": "PABPC4",
"hgvs_c": "c.751-92T>C",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504204.1",
"strand": false,
"transcript": "ENST00000676859.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 876,
"cdna_start": null,
"cds_end": null,
"cds_length": 585,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000437136.5",
"gene_hgnc_id": 8557,
"gene_symbol": "PABPC4",
"hgvs_c": "c.283-92T>C",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000408559.1",
"strand": false,
"transcript": "ENST00000437136.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
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