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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: 6-31886766-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31886766&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 31886766,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000375537.9",
"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": 28,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2241+9G>A",
"hgvs_p": null,
"transcript": "NM_006709.5",
"protein_id": "NP_006700.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1210,
"cds_start": -4,
"cds_end": null,
"cds_length": 3633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3979,
"mane_select": "ENST00000375537.9",
"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": 28,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2241+9G>A",
"hgvs_p": null,
"transcript": "ENST00000375537.9",
"protein_id": "ENSP00000364687.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1210,
"cds_start": -4,
"cds_end": null,
"cds_length": 3633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3979,
"mane_select": "NM_006709.5",
"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": 27,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2412+9G>A",
"hgvs_p": null,
"transcript": "ENST00000395728.7",
"protein_id": "ENSP00000379078.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1267,
"cds_start": -4,
"cds_end": null,
"cds_length": 3804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4129,
"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": 27,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2412+9G>A",
"hgvs_p": null,
"transcript": "NM_001363689.2",
"protein_id": "NP_001350618.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1267,
"cds_start": -4,
"cds_end": null,
"cds_length": 3804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4625,
"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": 26,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2310+9G>A",
"hgvs_p": null,
"transcript": "NM_001289413.2",
"protein_id": "NP_001276342.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1233,
"cds_start": -4,
"cds_end": null,
"cds_length": 3702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4523,
"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": 26,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2310+9G>A",
"hgvs_p": null,
"transcript": "ENST00000375528.8",
"protein_id": "ENSP00000364678.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1233,
"cds_start": -4,
"cds_end": null,
"cds_length": 3702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4047,
"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": 28,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2241+9G>A",
"hgvs_p": null,
"transcript": "NM_001395160.1",
"protein_id": "NP_001382089.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1217,
"cds_start": -4,
"cds_end": null,
"cds_length": 3654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4000,
"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": 27,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2139+9G>A",
"hgvs_p": null,
"transcript": "NM_001395161.1",
"protein_id": "NP_001382090.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1189,
"cds_start": -4,
"cds_end": null,
"cds_length": 3570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3916,
"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": 27,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2241+9G>A",
"hgvs_p": null,
"transcript": "NM_001395162.1",
"protein_id": "NP_001382091.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1184,
"cds_start": -4,
"cds_end": null,
"cds_length": 3555,
"cdna_start": null,
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"cdna_length": 3901,
"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": 27,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2139+9G>A",
"hgvs_p": null,
"transcript": "NM_001395163.1",
"protein_id": "NP_001382092.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1183,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3898,
"mane_select": null,
"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": 27,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2139+9G>A",
"hgvs_p": null,
"transcript": "NM_025256.7",
"protein_id": "NP_079532.5",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1176,
"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "EHMT2",
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"hgvs_c": "c.2139+9G>A",
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"transcript": "ENST00000375530.8",
"protein_id": "ENSP00000364680.4",
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"cds_start": -4,
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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": 27,
"intron_rank": 17,
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"gene_symbol": "EHMT2",
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"hgvs_c": "c.2241+9G>A",
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"transcript": "NM_001395164.1",
"protein_id": "NP_001382093.1",
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},
{
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],
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"exon_count": 26,
"intron_rank": 15,
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"gene_symbol": "EHMT2",
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"hgvs_c": "c.1983+9G>A",
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"transcript": "NM_001395165.1",
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},
{
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"intron_variant"
],
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"intron_rank": 18,
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"gene_symbol": "EHMT2",
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"hgvs_c": "c.1614+9G>A",
"hgvs_p": null,
"transcript": "NM_001318833.2",
"protein_id": "NP_001305762.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 2,
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"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.192+9G>A",
"hgvs_p": null,
"transcript": "ENST00000436026.1",
"protein_id": "ENSP00000412353.1",
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},
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],
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"gene_symbol": "EHMT2",
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"hgvs_c": "n.345+9G>A",
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"transcript": "ENST00000477678.1",
"protein_id": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 26,
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"gene_symbol": "EHMT2",
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"hgvs_c": "n.2202+9G>A",
"hgvs_p": null,
"transcript": "ENST00000480912.5",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 27,
"intron_rank": 16,
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"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2775+9G>A",
"hgvs_p": null,
"transcript": "XM_006714974.2",
"protein_id": "XP_006715037.2",
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},
{
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"strand": false,
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"intron_variant"
],
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"exon_count": 26,
"intron_rank": 15,
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"gene_symbol": "EHMT2",
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"hgvs_c": "c.2673+9G>A",
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"transcript": "XM_006714975.2",
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"feature": null
}
],
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"dbsnp": "rs7743807",
"frequency_reference_population": 0.043242145,
"hom_count_reference_population": 1941,
"allele_count_reference_population": 69800,
"gnomad_exomes_af": 0.0425239,
"gnomad_genomes_af": 0.0501332,
"gnomad_exomes_ac": 62162,
"gnomad_genomes_ac": 7638,
"gnomad_exomes_homalt": 1674,
"gnomad_genomes_homalt": 267,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8500000238418579,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.029,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": "ENST00000375537.9",
"gene_symbol": "EHMT2",
"hgnc_id": 14129,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2241+9G>A",
"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
}