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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: 1-62141021-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=62141021&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 62141021,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000642238.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": 41,
"intron_rank_end": null,
"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"hgvs_c": "c.5272-7263C>G",
"hgvs_p": null,
"transcript": "NM_001350145.3",
"protein_id": "NP_001337074.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1882,
"cds_start": -4,
"cds_end": null,
"cds_length": 5649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8621,
"mane_select": "ENST00000642238.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": 41,
"intron_rank_end": null,
"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"hgvs_c": "c.5272-7263C>G",
"hgvs_p": null,
"transcript": "ENST00000642238.2",
"protein_id": "ENSP00000494277.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1882,
"cds_start": -4,
"cds_end": null,
"cds_length": 5649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8621,
"mane_select": "NM_001350145.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"hgvs_c": "c.1624-7263C>G",
"hgvs_p": null,
"transcript": "ENST00000635137.1",
"protein_id": "ENSP00000489159.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 593,
"cds_start": -4,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": 41,
"intron_rank_end": null,
"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"hgvs_c": "c.5272-7263C>G",
"hgvs_p": null,
"transcript": "NM_176877.5",
"protein_id": "NP_795352.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1801,
"cds_start": -4,
"cds_end": null,
"cds_length": 5406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": 41,
"intron_rank_end": null,
"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"hgvs_c": "c.5272-7263C>G",
"hgvs_p": null,
"transcript": "ENST00000371158.6",
"protein_id": "ENSP00000360200.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1801,
"cds_start": -4,
"cds_end": null,
"cds_length": 5406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"hgvs_c": "c.1624-7263C>G",
"hgvs_p": null,
"transcript": "ENST00000646453.1",
"protein_id": "ENSP00000494824.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 666,
"cds_start": -4,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"hgvs_c": "n.*239-7263C>G",
"hgvs_p": null,
"transcript": "ENST00000484937.5",
"protein_id": "ENSP00000433669.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": 43,
"intron_rank_end": null,
"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"hgvs_c": "c.5437-7263C>G",
"hgvs_p": null,
"transcript": "XM_011540462.4",
"protein_id": "XP_011538764.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1937,
"cds_start": -4,
"cds_end": null,
"cds_length": 5814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": 43,
"intron_rank_end": null,
"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"hgvs_c": "c.5437-7263C>G",
"hgvs_p": null,
"transcript": "XM_011540463.3",
"protein_id": "XP_011538765.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1937,
"cds_start": -4,
"cds_end": null,
"cds_length": 5814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": 43,
"intron_rank_end": null,
"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"hgvs_c": "c.5389-7263C>G",
"hgvs_p": null,
"transcript": "XM_011540464.4",
"protein_id": "XP_011538766.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1921,
"cds_start": -4,
"cds_end": null,
"cds_length": 5766,
"cdna_start": null,
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"cdna_length": 8738,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": 42,
"intron_rank_end": null,
"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"hgvs_c": "c.5362-7263C>G",
"hgvs_p": null,
"transcript": "XM_011540465.4",
"protein_id": "XP_011538767.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1912,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 45,
"intron_rank": 42,
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"gene_symbol": "PATJ",
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"hgvs_c": "c.5347-7263C>G",
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"transcript": "XM_011540466.4",
"protein_id": "XP_011538768.1",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 45,
"intron_rank": 42,
"intron_rank_end": null,
"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"hgvs_c": "c.5314-7263C>G",
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"transcript": "XM_024448614.2",
"protein_id": "XP_024304382.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 44,
"intron_rank": 41,
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"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"hgvs_c": "c.5263-7263C>G",
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"transcript": "XM_016999998.3",
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},
{
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],
"exon_rank": null,
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"gene_symbol": "PATJ",
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"hgvs_c": "c.5437-7263C>G",
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"transcript": "XM_011540467.4",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 43,
"intron_rank": 40,
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"gene_symbol": "PATJ",
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"hgvs_c": "c.5188-7263C>G",
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"transcript": "XM_016999999.3",
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},
{
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],
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"gene_symbol": "PATJ",
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"hgvs_c": "c.5362-7263C>G",
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"transcript": "XM_047424283.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 44,
"intron_rank": 42,
"intron_rank_end": null,
"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"hgvs_c": "c.5347-7263C>G",
"hgvs_p": null,
"transcript": "XM_047424287.1",
"protein_id": "XP_047280243.1",
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},
{
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],
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"intron_rank": 42,
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"gene_symbol": "PATJ",
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},
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],
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 38,
"intron_rank_end": null,
"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"hgvs_c": "c.4528-7263C>G",
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"transcript": "XM_017000000.2",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"hgvs_c": "c.2602-7263C>G",
"hgvs_p": null,
"transcript": "XM_017000001.2",
"protein_id": "XP_016855490.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5917,
"mane_select": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"dbsnp": "rs2476197",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.119,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000642238.2",
"gene_symbol": "PATJ",
"hgnc_id": 28881,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.5272-7263C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}