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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: 1-236852328-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=236852328&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 236852328,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000366577.10",
"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": 33,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.1696-193C>G",
"hgvs_p": null,
"transcript": "NM_000254.3",
"protein_id": "NP_000245.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1265,
"cds_start": -4,
"cds_end": null,
"cds_length": 3798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10547,
"mane_select": "ENST00000366577.10",
"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": 33,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.1696-193C>G",
"hgvs_p": null,
"transcript": "ENST00000366577.10",
"protein_id": "ENSP00000355536.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1265,
"cds_start": -4,
"cds_end": null,
"cds_length": 3798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10547,
"mane_select": "NM_000254.3",
"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": 32,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.1696-193C>G",
"hgvs_p": null,
"transcript": "ENST00000535889.6",
"protein_id": "ENSP00000441845.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1214,
"cds_start": -4,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4157,
"mane_select": null,
"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": 20,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.358-193C>G",
"hgvs_p": null,
"transcript": "ENST00000366576.3",
"protein_id": "ENSP00000355535.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 819,
"cds_start": -4,
"cds_end": null,
"cds_length": 2460,
"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": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.1696-193C>G",
"hgvs_p": null,
"transcript": "NM_001291939.1",
"protein_id": "NP_001278868.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1214,
"cds_start": -4,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10405,
"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": 32,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.1516-193C>G",
"hgvs_p": null,
"transcript": "ENST00000681102.1",
"protein_id": "ENSP00000505600.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1205,
"cds_start": -4,
"cds_end": null,
"cds_length": 3618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3618,
"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": 31,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.1696-193C>G",
"hgvs_p": null,
"transcript": "NM_001410942.1",
"protein_id": "NP_001397871.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1202,
"cds_start": -4,
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"cds_length": 3609,
"cdna_start": null,
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"cdna_length": 10358,
"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": 31,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.1696-193C>G",
"hgvs_p": null,
"transcript": "ENST00000679842.1",
"protein_id": "ENSP00000506109.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1202,
"cds_start": -4,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3609,
"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": 32,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.1348-193C>G",
"hgvs_p": null,
"transcript": "ENST00000674797.2",
"protein_id": "ENSP00000502299.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1149,
"cds_start": -4,
"cds_end": null,
"cds_length": 3450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"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": 30,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "MTR",
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"hgvs_c": "c.1516-7505C>G",
"hgvs_p": null,
"transcript": "ENST00000681177.1",
"protein_id": "ENSP00000506327.1",
"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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"mane_select": 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": 32,
"intron_rank": 15,
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"gene_symbol": "MTR",
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"hgvs_c": "c.475-193C>G",
"hgvs_p": null,
"transcript": "NM_001291940.2",
"protein_id": "NP_001278869.1",
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"cds_start": -4,
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},
{
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"strand": true,
"consequences": [
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],
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"transcript": "ENST00000463959.1",
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},
{
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],
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},
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"strand": true,
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],
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],
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},
{
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],
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],
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},
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],
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"hgvs_c": "c.1864-193C>G",
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"transcript": "XM_011544194.4",
"protein_id": "XP_011542496.1",
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},
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],
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"intron_rank": 15,
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"gene_symbol": "MTR",
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"transcript": "XM_017001329.3",
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],
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],
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],
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"gene_symbol": "MTR",
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"hgvs_c": "c.1693-193C>G",
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},
{
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],
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"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "MTR",
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"hgvs_c": "c.1864-193C>G",
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},
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},
{
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},
{
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],
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}
],
"gene_symbol": "MTR",
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"dbsnp": "rs2275568",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8399999737739563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.05,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000366577.10",
"gene_symbol": "MTR",
"hgnc_id": 7468,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}