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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: X-2726261-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=2726261&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 2726261,
"ref": "C",
"alt": "T",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "ENST00000381192.10",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99",
"gene_hgnc_id": 7082,
"hgvs_c": "c.363C>T",
"hgvs_p": "p.Ala121Ala",
"transcript": "NM_002414.5",
"protein_id": "NP_002405.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 185,
"cds_start": 363,
"cds_end": null,
"cds_length": 558,
"cdna_start": 429,
"cdna_end": null,
"cdna_length": 1129,
"mane_select": "ENST00000381192.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99",
"gene_hgnc_id": 7082,
"hgvs_c": "c.363C>T",
"hgvs_p": "p.Ala121Ala",
"transcript": "ENST00000381192.10",
"protein_id": "ENSP00000370588.3",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 185,
"cds_start": 363,
"cds_end": null,
"cds_length": 558,
"cdna_start": 429,
"cdna_end": null,
"cdna_length": 1129,
"mane_select": "NM_002414.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99",
"gene_hgnc_id": 7082,
"hgvs_c": "c.363C>T",
"hgvs_p": "p.Ala121Ala",
"transcript": "ENST00000381184.6",
"protein_id": "ENSP00000370579.1",
"transcript_support_level": 5,
"aa_start": 121,
"aa_end": null,
"aa_length": 177,
"cds_start": 363,
"cds_end": null,
"cds_length": 534,
"cdna_start": 444,
"cdna_end": null,
"cdna_length": 918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99",
"gene_hgnc_id": 7082,
"hgvs_c": "c.363C>T",
"hgvs_p": "p.Ala121Ala",
"transcript": "ENST00000611428.5",
"protein_id": "ENSP00000479999.1",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 160,
"cds_start": 363,
"cds_end": null,
"cds_length": 483,
"cdna_start": 537,
"cdna_end": null,
"cdna_length": 1243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99",
"gene_hgnc_id": 7082,
"hgvs_c": "n.363C>T",
"hgvs_p": null,
"transcript": "ENST00000623253.4",
"protein_id": "ENSP00000485545.1",
"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": 573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99",
"gene_hgnc_id": 7082,
"hgvs_c": "c.363C>T",
"hgvs_p": "p.Ala121Ala",
"transcript": "NM_001321368.2",
"protein_id": "NP_001308297.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 184,
"cds_start": 363,
"cds_end": null,
"cds_length": 555,
"cdna_start": 429,
"cdna_end": null,
"cdna_length": 1126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99",
"gene_hgnc_id": 7082,
"hgvs_c": "c.363C>T",
"hgvs_p": "p.Ala121Ala",
"transcript": "ENST00000624481.4",
"protein_id": "ENSP00000485427.1",
"transcript_support_level": 2,
"aa_start": 121,
"aa_end": null,
"aa_length": 184,
"cds_start": 363,
"cds_end": null,
"cds_length": 555,
"cdna_start": 411,
"cdna_end": null,
"cdna_length": 1089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99",
"gene_hgnc_id": 7082,
"hgvs_c": "c.315C>T",
"hgvs_p": "p.Ala105Ala",
"transcript": "NM_001122898.3",
"protein_id": "NP_001116370.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 169,
"cds_start": 315,
"cds_end": null,
"cds_length": 510,
"cdna_start": 381,
"cdna_end": null,
"cdna_length": 1081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99",
"gene_hgnc_id": 7082,
"hgvs_c": "c.315C>T",
"hgvs_p": "p.Ala105Ala",
"transcript": "ENST00000381187.8",
"protein_id": "ENSP00000370582.3",
"transcript_support_level": 2,
"aa_start": 105,
"aa_end": null,
"aa_length": 169,
"cds_start": 315,
"cds_end": null,
"cds_length": 510,
"cdna_start": 400,
"cdna_end": null,
"cdna_length": 892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99",
"gene_hgnc_id": 7082,
"hgvs_c": "c.315C>T",
"hgvs_p": "p.Ala105Ala",
"transcript": "NM_001321369.2",
"protein_id": "NP_001308298.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 168,
"cds_start": 315,
"cds_end": null,
"cds_length": 507,
"cdna_start": 381,
"cdna_end": null,
"cdna_length": 1078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99",
"gene_hgnc_id": 7082,
"hgvs_c": "c.312C>T",
"hgvs_p": "p.Ala104Ala",
"transcript": "NM_001321370.2",
"protein_id": "NP_001308299.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 168,
"cds_start": 312,
"cds_end": null,
"cds_length": 507,
"cdna_start": 378,
"cdna_end": null,
"cdna_length": 1078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99",
"gene_hgnc_id": 7082,
"hgvs_c": "c.363C>T",
"hgvs_p": "p.Ala121Ala",
"transcript": "NM_001321367.2",
"protein_id": "NP_001308296.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 160,
"cds_start": 363,
"cds_end": null,
"cds_length": 483,
"cdna_start": 429,
"cdna_end": null,
"cdna_length": 3622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99",
"gene_hgnc_id": 7082,
"hgvs_c": "c.363C>T",
"hgvs_p": "p.Ala121Ala",
"transcript": "ENST00000482405.7",
"protein_id": "ENSP00000494027.1",
"transcript_support_level": 2,
"aa_start": 121,
"aa_end": null,
"aa_length": 160,
"cds_start": 363,
"cds_end": null,
"cds_length": 483,
"cdna_start": 414,
"cdna_end": null,
"cdna_length": 842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99",
"gene_hgnc_id": 7082,
"hgvs_c": "n.492C>T",
"hgvs_p": null,
"transcript": "ENST00000449611.6",
"protein_id": null,
"transcript_support_level": 5,
"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": 604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99",
"gene_hgnc_id": 7082,
"hgvs_c": "n.364C>T",
"hgvs_p": null,
"transcript": "ENST00000482293.6",
"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": 466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99",
"gene_hgnc_id": 7082,
"hgvs_c": "n.808C>T",
"hgvs_p": null,
"transcript": "ENST00000497752.7",
"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": 815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99",
"gene_hgnc_id": 7082,
"hgvs_c": "n.429C>T",
"hgvs_p": null,
"transcript": "NR_135623.2",
"protein_id": null,
"transcript_support_level": null,
"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": 1144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99",
"gene_hgnc_id": 7082,
"hgvs_c": "n.-82C>T",
"hgvs_p": null,
"transcript": "ENST00000381177.7",
"protein_id": "ENSP00000370570.3",
"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": 756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CD99",
"gene_hgnc_id": 7082,
"dbsnp": "rs1136470",
"frequency_reference_population": 0.13661976,
"hom_count_reference_population": 111303,
"allele_count_reference_population": 218840,
"gnomad_exomes_af": 0.137688,
"gnomad_genomes_af": 0.126434,
"gnomad_exomes_ac": 199616,
"gnomad_genomes_ac": 19224,
"gnomad_exomes_homalt": 14223,
"gnomad_genomes_homalt": 1258,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -1.0700000524520874,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -1.07,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.223,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.00000655384570835193,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000381192.10",
"gene_symbol": "CD99",
"hgnc_id": 7082,
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"inheritance_mode": "BG",
"hgvs_c": "c.363C>T",
"hgvs_p": "p.Ala121Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}