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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: 15-48147301-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=48147301&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 48147301,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000324324.12",
"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": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "MYEF2",
"gene_hgnc_id": 17940,
"hgvs_c": "c.1639+1731T>C",
"hgvs_p": null,
"transcript": "NM_016132.5",
"protein_id": "NP_057216.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 600,
"cds_start": -4,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10137,
"mane_select": "ENST00000324324.12",
"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": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "MYEF2",
"gene_hgnc_id": 17940,
"hgvs_c": "c.1639+1731T>C",
"hgvs_p": null,
"transcript": "ENST00000324324.12",
"protein_id": "ENSP00000316950.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 600,
"cds_start": -4,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10137,
"mane_select": "NM_016132.5",
"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": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "MYEF2",
"gene_hgnc_id": 17940,
"hgvs_c": "c.1567+1731T>C",
"hgvs_p": null,
"transcript": "ENST00000267836.10",
"protein_id": "ENSP00000267836.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 576,
"cds_start": -4,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2958,
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MYEF2",
"gene_hgnc_id": 17940,
"hgvs_c": "c.472+1731T>C",
"hgvs_p": null,
"transcript": "ENST00000620867.4",
"protein_id": "ENSP00000480281.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 211,
"cds_start": -4,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1742,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MYEF2",
"gene_hgnc_id": 17940,
"hgvs_c": "n.876+1731T>C",
"hgvs_p": null,
"transcript": "ENST00000558289.5",
"protein_id": null,
"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": 4516,
"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": 15,
"intron_rank_end": null,
"gene_symbol": "MYEF2",
"gene_hgnc_id": 17940,
"hgvs_c": "c.1567+1731T>C",
"hgvs_p": null,
"transcript": "NM_001301210.2",
"protein_id": "NP_001288139.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 576,
"cds_start": -4,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10065,
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MYEF2",
"gene_hgnc_id": 17940,
"hgvs_c": "c.856+1731T>C",
"hgvs_p": null,
"transcript": "ENST00000558395.1",
"protein_id": "ENSP00000453830.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 288,
"cds_start": -4,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 868,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MYEF2",
"gene_hgnc_id": 17940,
"hgvs_c": "c.214+1731T>C",
"hgvs_p": null,
"transcript": "ENST00000560172.5",
"protein_id": "ENSP00000452918.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 125,
"cds_start": -4,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 731,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYEF2",
"gene_hgnc_id": 17940,
"hgvs_c": "n.282+1731T>C",
"hgvs_p": null,
"transcript": "ENST00000559057.1",
"protein_id": null,
"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": 688,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MYEF2",
"gene_hgnc_id": 17940,
"hgvs_c": "n.761+1731T>C",
"hgvs_p": null,
"transcript": "ENST00000560530.5",
"protein_id": null,
"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": 2037,
"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": 15,
"intron_rank_end": null,
"gene_symbol": "MYEF2",
"gene_hgnc_id": 17940,
"hgvs_c": "c.1588+1731T>C",
"hgvs_p": null,
"transcript": "XM_005254422.5",
"protein_id": "XP_005254479.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 583,
"cds_start": -4,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10086,
"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": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "MYEF2",
"gene_hgnc_id": 17940,
"hgvs_c": "c.1516+1731T>C",
"hgvs_p": null,
"transcript": "XM_005254424.5",
"protein_id": "XP_005254481.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 559,
"cds_start": -4,
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"cds_length": 1680,
"cdna_start": null,
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"cdna_length": 10014,
"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": 15,
"intron_rank_end": null,
"gene_symbol": "MYEF2",
"gene_hgnc_id": 17940,
"hgvs_c": "c.1587+1862T>C",
"hgvs_p": null,
"transcript": "XM_005254425.5",
"protein_id": "XP_005254482.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 531,
"cds_start": -4,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
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"cdna_length": 10085,
"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": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "MYEF2",
"gene_hgnc_id": 17940,
"hgvs_c": "c.1536+1862T>C",
"hgvs_p": null,
"transcript": "XM_017022285.2",
"protein_id": "XP_016877774.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 514,
"cds_start": -4,
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"cdna_start": null,
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"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": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "MYEF2",
"gene_hgnc_id": 17940,
"hgvs_c": "c.1515+1862T>C",
"hgvs_p": null,
"transcript": "XM_017022286.2",
"protein_id": "XP_016877775.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 507,
"cds_start": -4,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10013,
"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": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "MYEF2",
"gene_hgnc_id": 17940,
"hgvs_c": "c.1464+1862T>C",
"hgvs_p": null,
"transcript": "XM_017022287.2",
"protein_id": "XP_016877776.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 490,
"cds_start": -4,
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"cdna_start": null,
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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": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "MYEF2",
"gene_hgnc_id": 17940,
"hgvs_c": "c.1159+1731T>C",
"hgvs_p": null,
"transcript": "XM_047432635.1",
"protein_id": "XP_047288591.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 440,
"cds_start": -4,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
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"cdna_length": 9741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "MYEF2",
"gene_hgnc_id": 17940,
"hgvs_c": "c.1147+1731T>C",
"hgvs_p": null,
"transcript": "XM_011521657.3",
"protein_id": "XP_011519959.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 436,
"cds_start": -4,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MYEF2",
"gene_hgnc_id": 17940,
"hgvs_c": "c.1096+1731T>C",
"hgvs_p": null,
"transcript": "XM_047432636.1",
"protein_id": "XP_047288592.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 419,
"cds_start": -4,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MYEF2",
"gene_hgnc_id": 17940,
"dbsnp": "rs2433359",
"frequency_reference_population": 0.07565071,
"hom_count_reference_population": 1168,
"allele_count_reference_population": 11498,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0756507,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 11498,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 1168,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9900000095367432,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.07999999821186066,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.99,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.247,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.08,
"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": "ENST00000324324.12",
"gene_symbol": "MYEF2",
"hgnc_id": 17940,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1639+1731T>C",
"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
}