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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: 3-183044649-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=183044649&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 183044649,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000265594.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.1083+764C>T",
"hgvs_p": null,
"transcript": "NM_020166.5",
"protein_id": "NP_064551.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 725,
"cds_start": -4,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2454,
"mane_select": "ENST00000265594.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.1083+764C>T",
"hgvs_p": null,
"transcript": "ENST00000265594.9",
"protein_id": "ENSP00000265594.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 725,
"cds_start": -4,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2454,
"mane_select": "NM_020166.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.756+764C>T",
"hgvs_p": null,
"transcript": "ENST00000492597.5",
"protein_id": "ENSP00000419898.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 616,
"cds_start": -4,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "n.*680+764C>T",
"hgvs_p": null,
"transcript": "ENST00000497830.5",
"protein_id": "ENSP00000420088.1",
"transcript_support_level": 1,
"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": 2227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.756+764C>T",
"hgvs_p": null,
"transcript": "NM_001363880.1",
"protein_id": "NP_001350809.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 616,
"cds_start": -4,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.732+764C>T",
"hgvs_p": null,
"transcript": "NM_001293273.2",
"protein_id": "NP_001280202.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 608,
"cds_start": -4,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.942+764C>T",
"hgvs_p": null,
"transcript": "ENST00000476176.5",
"protein_id": "ENSP00000420433.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 597,
"cds_start": -4,
"cds_end": null,
"cds_length": 1796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.969+764C>T",
"hgvs_p": null,
"transcript": "ENST00000629669.2",
"protein_id": "ENSP00000486824.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 434,
"cds_start": -4,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "n.*664+764C>T",
"hgvs_p": null,
"transcript": "ENST00000495767.5",
"protein_id": "ENSP00000419658.1",
"transcript_support_level": 2,
"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": 1860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "n.969+764C>T",
"hgvs_p": null,
"transcript": "ENST00000497959.5",
"protein_id": "ENSP00000420648.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 2874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "n.906+764C>T",
"hgvs_p": null,
"transcript": "NR_120639.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 10,
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"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "n.1750+764C>T",
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"transcript": "NR_120640.2",
"protein_id": null,
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"aa_length": null,
"cds_start": -4,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.1032+764C>T",
"hgvs_p": null,
"transcript": "XM_047448586.1",
"protein_id": "XP_047304542.1",
"transcript_support_level": null,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.969+764C>T",
"hgvs_p": null,
"transcript": "XM_011512992.3",
"protein_id": "XP_011511294.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.756+764C>T",
"hgvs_p": null,
"transcript": "XM_047448588.1",
"protein_id": "XP_047304544.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.756+764C>T",
"hgvs_p": null,
"transcript": "XM_047448589.1",
"protein_id": "XP_047304545.1",
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},
{
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],
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"intron_rank": 10,
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"gene_symbol": "MCCC1",
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"hgvs_c": "c.1083+764C>T",
"hgvs_p": null,
"transcript": "XM_047448587.1",
"protein_id": "XP_047304543.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.1083+764C>T",
"hgvs_p": null,
"transcript": "XM_047448590.1",
"protein_id": "XP_047304546.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.1032+764C>T",
"hgvs_p": null,
"transcript": "XM_047448591.1",
"protein_id": "XP_047304547.1",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "n.1230+764C>T",
"hgvs_p": null,
"transcript": "XR_007095707.1",
"protein_id": null,
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"feature": null
}
],
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"dbsnp": "rs12637471",
"frequency_reference_population": 0.24698311,
"hom_count_reference_population": 5225,
"allele_count_reference_population": 37536,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.246983,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 37536,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 5225,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8700000047683716,
"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": -0.87,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.095,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000265594.9",
"gene_symbol": "MCCC1",
"hgnc_id": 6936,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1083+764C>T",
"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
}