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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: 15-77032539-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=77032539&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "PSTPIP1",
"hgnc_id": 9580,
"hgvs_c": "c.1033+145A>G",
"hgvs_p": null,
"inheritance_mode": "Unknown,AD",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_001321137.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 521947,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.9,
"chr": "15",
"clinvar_classification": "Benign",
"clinvar_disease": "Pyogenic arthritis-pyoderma gangrenosum-acne syndrome,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8999999761581421,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 416,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1998,
"cdna_start": null,
"cds_end": null,
"cds_length": 1251,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_003978.5",
"gene_hgnc_id": 9580,
"gene_symbol": "PSTPIP1",
"hgvs_c": "c.838+145A>G",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000558012.6",
"protein_coding": true,
"protein_id": "NP_003969.2",
"strand": true,
"transcript": "NM_003978.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 416,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1998,
"cdna_start": null,
"cds_end": null,
"cds_length": 1251,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000558012.6",
"gene_hgnc_id": 9580,
"gene_symbol": "PSTPIP1",
"hgvs_c": "c.838+145A>G",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003978.5",
"protein_coding": true,
"protein_id": "ENSP00000452746.1",
"strand": true,
"transcript": "ENST00000558012.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 397,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1349,
"cdna_start": null,
"cds_end": null,
"cds_length": 1194,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000559295.5",
"gene_hgnc_id": 9580,
"gene_symbol": "PSTPIP1",
"hgvs_c": "c.872+111A>G",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452743.1",
"strand": true,
"transcript": "ENST00000559295.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 132,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 556,
"cdna_start": null,
"cds_end": null,
"cds_length": 399,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000558870.1",
"gene_hgnc_id": 9580,
"gene_symbol": "PSTPIP1",
"hgvs_c": "c.77+145A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452779.1",
"strand": true,
"transcript": "ENST00000558870.1",
"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": 1715,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000559785.5",
"gene_hgnc_id": 9580,
"gene_symbol": "PSTPIP1",
"hgvs_c": "n.1067+111A>G",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000452986.1",
"strand": true,
"transcript": "ENST00000559785.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1962,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000560223.5",
"gene_hgnc_id": 9580,
"gene_symbol": "PSTPIP1",
"hgvs_c": "n.*940+145A>G",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000454118.1",
"strand": true,
"transcript": "ENST00000560223.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 481,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1855,
"cdna_start": null,
"cds_end": null,
"cds_length": 1446,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001321137.1",
"gene_hgnc_id": 9580,
"gene_symbol": "PSTPIP1",
"hgvs_c": "c.1033+145A>G",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308066.1",
"strand": true,
"transcript": "NM_001321137.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 416,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1767,
"cdna_start": null,
"cds_end": null,
"cds_length": 1251,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884367.1",
"gene_hgnc_id": 9580,
"gene_symbol": "PSTPIP1",
"hgvs_c": "c.838+145A>G",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554426.1",
"strand": true,
"transcript": "ENST00000884367.1",
"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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"cdna_start": null,
"cds_end": null,
"cds_length": 1242,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001411086.1",
"gene_hgnc_id": 9580,
"gene_symbol": "PSTPIP1",
"hgvs_c": "c.838+145A>G",
"hgvs_p": null,
"intron_rank": 11,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001398015.1",
"strand": true,
"transcript": "NM_001411086.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1840,
"cdna_start": null,
"cds_end": null,
"cds_length": 1242,
"cds_start": null,
"consequences": [
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],
"exon_count": 15,
"exon_rank": null,
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"feature": "ENST00000379595.7",
"gene_hgnc_id": 9580,
"gene_symbol": "PSTPIP1",
"hgvs_c": "c.838+145A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000368914.3",
"strand": true,
"transcript": "ENST00000379595.7",
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},
{
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"consequences": [
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],
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"feature": "NM_001321136.2",
"gene_hgnc_id": 9580,
"gene_symbol": "PSTPIP1",
"hgvs_c": "c.811+145A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001308065.1",
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},
{
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],
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"feature": "NM_001321135.2",
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},
{
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"feature": "XM_011522168.4",
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"protein_coding": true,
"protein_id": "XP_011520470.1",
"strand": true,
"transcript": "XM_011522168.4",
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},
{
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"consequences": [
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],
"exon_count": 16,
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"feature": "XM_011522163.3",
"gene_hgnc_id": 9580,
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"protein_coding": true,
"protein_id": "XP_011520465.1",
"strand": true,
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},
{
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],
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"feature": "XM_047433276.1",
"gene_hgnc_id": 9580,
"gene_symbol": "PSTPIP1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047289232.1",
"strand": true,
"transcript": "XM_047433276.1",
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},
{
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"consequences": [
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],
"exon_count": 15,
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"feature": "XM_011522165.3",
"gene_hgnc_id": 9580,
"gene_symbol": "PSTPIP1",
"hgvs_c": "c.691+145A>G",
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"intron_rank": 11,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011520467.1",
"strand": true,
"transcript": "XM_011522165.3",
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},
{
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],
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"feature": "XM_011522166.2",
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},
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],
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"feature": "XM_047433277.1",
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"strand": true,
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},
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],
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"feature": "XM_047433278.1",
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"protein_coding": true,
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"strand": true,
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},
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"consequences": [
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],
"exon_count": 14,
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"feature": "XM_047433280.1",
"gene_hgnc_id": 9580,
"gene_symbol": "PSTPIP1",
"hgvs_c": "c.895+145A>G",
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"intron_rank": 12,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047289236.1",
"strand": true,
"transcript": "XM_047433280.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
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"feature": "XM_011522167.2",
"gene_hgnc_id": 9580,
"gene_symbol": "PSTPIP1",
"hgvs_c": "c.895+145A>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011520469.1",
"strand": true,
"transcript": "XM_011522167.2",
"transcript_support_level": null
},
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