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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: 2-233817173-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=233817173&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 233817173,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000389758.4",
"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": 42,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "MROH2A",
"gene_hgnc_id": 27936,
"hgvs_c": "c.2961+288A>C",
"hgvs_p": null,
"transcript": "NM_001394639.1",
"protein_id": "NP_001381568.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1674,
"cds_start": -4,
"cds_end": null,
"cds_length": 5025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5350,
"mane_select": "ENST00000389758.4",
"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": 42,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "MROH2A",
"gene_hgnc_id": 27936,
"hgvs_c": "c.2961+288A>C",
"hgvs_p": null,
"transcript": "ENST00000389758.4",
"protein_id": "ENSP00000374408.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1674,
"cds_start": -4,
"cds_end": null,
"cds_length": 5025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5350,
"mane_select": "NM_001394639.1",
"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": 42,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "MROH2A",
"gene_hgnc_id": 27936,
"hgvs_c": "c.2970+288A>C",
"hgvs_p": null,
"transcript": "ENST00000610772.4",
"protein_id": "ENSP00000477597.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1688,
"cds_start": -4,
"cds_end": null,
"cds_length": 5067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5324,
"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": 42,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "MROH2A",
"gene_hgnc_id": 27936,
"hgvs_c": "c.2961+288A>C",
"hgvs_p": null,
"transcript": "NM_001367507.1",
"protein_id": "NP_001354436.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1676,
"cds_start": -4,
"cds_end": null,
"cds_length": 5031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5238,
"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": 42,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "MROH2A",
"gene_hgnc_id": 27936,
"hgvs_c": "c.3096+288A>C",
"hgvs_p": null,
"transcript": "XM_011511076.3",
"protein_id": "XP_011509378.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1721,
"cds_start": -4,
"cds_end": null,
"cds_length": 5166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5514,
"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": 42,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "MROH2A",
"gene_hgnc_id": 27936,
"hgvs_c": "c.3096+288A>C",
"hgvs_p": null,
"transcript": "XM_024452839.2",
"protein_id": "XP_024308607.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1711,
"cds_start": -4,
"cds_end": null,
"cds_length": 5136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5484,
"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": 42,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "MROH2A",
"gene_hgnc_id": 27936,
"hgvs_c": "c.3057+288A>C",
"hgvs_p": null,
"transcript": "XM_024452840.2",
"protein_id": "XP_024308608.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1708,
"cds_start": -4,
"cds_end": null,
"cds_length": 5127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5475,
"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": 42,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "MROH2A",
"gene_hgnc_id": 27936,
"hgvs_c": "c.3051+288A>C",
"hgvs_p": null,
"transcript": "XM_024452841.2",
"protein_id": "XP_024308609.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1706,
"cds_start": -4,
"cds_end": null,
"cds_length": 5121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5469,
"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": 42,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "MROH2A",
"gene_hgnc_id": 27936,
"hgvs_c": "c.3006+288A>C",
"hgvs_p": null,
"transcript": "XM_024452842.2",
"protein_id": "XP_024308610.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1691,
"cds_start": -4,
"cds_end": null,
"cds_length": 5076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5283,
"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": 41,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "MROH2A",
"gene_hgnc_id": 27936,
"hgvs_c": "c.2992-829A>C",
"hgvs_p": null,
"transcript": "XM_024452843.2",
"protein_id": "XP_024308611.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1686,
"cds_start": -4,
"cds_end": null,
"cds_length": 5061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5409,
"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": 41,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "MROH2A",
"gene_hgnc_id": 27936,
"hgvs_c": "c.3096+288A>C",
"hgvs_p": null,
"transcript": "XM_024452844.2",
"protein_id": "XP_024308612.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1675,
"cds_start": -4,
"cds_end": null,
"cds_length": 5028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5376,
"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": 41,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "MROH2A",
"gene_hgnc_id": 27936,
"hgvs_c": "c.3096+288A>C",
"hgvs_p": null,
"transcript": "XM_024452845.1",
"protein_id": "XP_024308613.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1674,
"cds_start": -4,
"cds_end": null,
"cds_length": 5025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5241,
"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": 41,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "MROH2A",
"gene_hgnc_id": 27936,
"hgvs_c": "c.2898+288A>C",
"hgvs_p": null,
"transcript": "XM_024452846.2",
"protein_id": "XP_024308614.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1655,
"cds_start": -4,
"cds_end": null,
"cds_length": 4968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5316,
"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": 37,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "MROH2A",
"gene_hgnc_id": 27936,
"hgvs_c": "c.2262+288A>C",
"hgvs_p": null,
"transcript": "XM_024452847.2",
"protein_id": "XP_024308615.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1443,
"cds_start": -4,
"cds_end": null,
"cds_length": 4332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5420,
"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": 36,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "MROH2A",
"gene_hgnc_id": 27936,
"hgvs_c": "c.2262+288A>C",
"hgvs_p": null,
"transcript": "XM_024452848.2",
"protein_id": "XP_024308616.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1443,
"cds_start": -4,
"cds_end": null,
"cds_length": 4332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4584,
"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": 36,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "MROH2A",
"gene_hgnc_id": 27936,
"hgvs_c": "c.2118+288A>C",
"hgvs_p": null,
"transcript": "XM_024452849.2",
"protein_id": "XP_024308617.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1395,
"cds_start": -4,
"cds_end": null,
"cds_length": 4188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5276,
"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": 33,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "MROH2A",
"gene_hgnc_id": 27936,
"hgvs_c": "c.2991+2496A>C",
"hgvs_p": null,
"transcript": "XM_011511086.3",
"protein_id": "XP_011509388.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1300,
"cds_start": -4,
"cds_end": null,
"cds_length": 3903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MROH2A",
"gene_hgnc_id": 27936,
"dbsnp": "rs726017",
"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": -0.8700000047683716,
"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": 0.26,
"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": "ENST00000389758.4",
"gene_symbol": "MROH2A",
"hgnc_id": 27936,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2961+288A>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
}