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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: 2-37212007-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=37212007&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 37212007,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_005760.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEBPZ",
"gene_hgnc_id": 24218,
"hgvs_c": "c.2636A>T",
"hgvs_p": "p.Asp879Val",
"transcript": "NM_005760.3",
"protein_id": "NP_005751.2",
"transcript_support_level": null,
"aa_start": 879,
"aa_end": null,
"aa_length": 1054,
"cds_start": 2636,
"cds_end": null,
"cds_length": 3165,
"cdna_start": 2665,
"cdna_end": null,
"cdna_length": 3346,
"mane_select": "ENST00000234170.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005760.3"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEBPZ",
"gene_hgnc_id": 24218,
"hgvs_c": "c.2636A>T",
"hgvs_p": "p.Asp879Val",
"transcript": "ENST00000234170.10",
"protein_id": "ENSP00000234170.5",
"transcript_support_level": 1,
"aa_start": 879,
"aa_end": null,
"aa_length": 1054,
"cds_start": 2636,
"cds_end": null,
"cds_length": 3165,
"cdna_start": 2665,
"cdna_end": null,
"cdna_length": 3346,
"mane_select": "NM_005760.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000234170.10"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEBPZ",
"gene_hgnc_id": 24218,
"hgvs_c": "c.2636A>T",
"hgvs_p": "p.Asp879Val",
"transcript": "ENST00000898579.1",
"protein_id": "ENSP00000568638.1",
"transcript_support_level": null,
"aa_start": 879,
"aa_end": null,
"aa_length": 1060,
"cds_start": 2636,
"cds_end": null,
"cds_length": 3183,
"cdna_start": 2658,
"cdna_end": null,
"cdna_length": 3248,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898579.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEBPZ",
"gene_hgnc_id": 24218,
"hgvs_c": "c.2633A>T",
"hgvs_p": "p.Asp878Val",
"transcript": "ENST00000938546.1",
"protein_id": "ENSP00000608605.1",
"transcript_support_level": null,
"aa_start": 878,
"aa_end": null,
"aa_length": 1053,
"cds_start": 2633,
"cds_end": null,
"cds_length": 3162,
"cdna_start": 2662,
"cdna_end": null,
"cdna_length": 3385,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938546.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEBPZ",
"gene_hgnc_id": 24218,
"hgvs_c": "c.2636A>T",
"hgvs_p": "p.Asp879Val",
"transcript": "ENST00000938547.1",
"protein_id": "ENSP00000608606.1",
"transcript_support_level": null,
"aa_start": 879,
"aa_end": null,
"aa_length": 1007,
"cds_start": 2636,
"cds_end": null,
"cds_length": 3024,
"cdna_start": 2670,
"cdna_end": null,
"cdna_length": 3207,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938547.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEBPZ",
"gene_hgnc_id": 24218,
"hgvs_c": "c.2636A>T",
"hgvs_p": "p.Asp879Val",
"transcript": "ENST00000898578.1",
"protein_id": "ENSP00000568637.1",
"transcript_support_level": null,
"aa_start": 879,
"aa_end": null,
"aa_length": 949,
"cds_start": 2636,
"cds_end": null,
"cds_length": 2850,
"cdna_start": 2665,
"cdna_end": null,
"cdna_length": 2922,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898578.1"
},
{
"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": 11,
"intron_rank_end": null,
"gene_symbol": "CEBPZ",
"gene_hgnc_id": 24218,
"hgvs_c": "c.2604-79A>T",
"hgvs_p": null,
"transcript": "ENST00000938548.1",
"protein_id": "ENSP00000608607.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1017,
"cds_start": null,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3122,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938548.1"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CEBPZOS",
"gene_hgnc_id": 49288,
"hgvs_c": "c.*3-1430T>A",
"hgvs_p": null,
"transcript": "ENST00000397064.6",
"protein_id": "ENSP00000380254.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 80,
"cds_start": null,
"cds_end": null,
"cds_length": 243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 568,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397064.6"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CEBPZOS",
"gene_hgnc_id": 49288,
"hgvs_c": "c.*3-4106T>A",
"hgvs_p": null,
"transcript": "ENST00000898764.1",
"protein_id": "ENSP00000568823.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 80,
"cds_start": null,
"cds_end": null,
"cds_length": 243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 735,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898764.1"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CEBPZOS",
"gene_hgnc_id": 49288,
"hgvs_c": "c.*3-3314T>A",
"hgvs_p": null,
"transcript": "ENST00000898765.1",
"protein_id": "ENSP00000568824.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 80,
"cds_start": null,
"cds_end": null,
"cds_length": 243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 428,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898765.1"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CEBPZOS",
"gene_hgnc_id": 49288,
"hgvs_c": "c.*3-3314T>A",
"hgvs_p": null,
"transcript": "ENST00000898766.1",
"protein_id": "ENSP00000568825.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 80,
"cds_start": null,
"cds_end": null,
"cds_length": 243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1174,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898766.1"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CEBPZOS",
"gene_hgnc_id": 49288,
"hgvs_c": "c.*3-764T>A",
"hgvs_p": null,
"transcript": "ENST00000898767.1",
"protein_id": "ENSP00000568826.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 80,
"cds_start": null,
"cds_end": null,
"cds_length": 243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 706,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898767.1"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CEBPZOS",
"gene_hgnc_id": 49288,
"hgvs_c": "c.*3-249T>A",
"hgvs_p": null,
"transcript": "XM_017003108.3",
"protein_id": "XP_016858597.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 80,
"cds_start": null,
"cds_end": null,
"cds_length": 243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 695,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003108.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEBPZ",
"gene_hgnc_id": 24218,
"hgvs_c": "n.102A>T",
"hgvs_p": null,
"transcript": "ENST00000489306.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 611,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000489306.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000272054",
"gene_hgnc_id": null,
"hgvs_c": "n.3133T>A",
"hgvs_p": null,
"transcript": "ENST00000606229.1",
"protein_id": null,
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3803,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000606229.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CEBPZOS",
"gene_hgnc_id": 49288,
"hgvs_c": "n.469-1430T>A",
"hgvs_p": null,
"transcript": "NR_136316.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 865,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136316.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CEBPZOS",
"gene_hgnc_id": 49288,
"hgvs_c": "n.5394+833T>A",
"hgvs_p": null,
"transcript": "XR_007068206.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6267,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007068206.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CEBPZOS",
"gene_hgnc_id": 49288,
"hgvs_c": "n.272-1430T>A",
"hgvs_p": null,
"transcript": "XR_007068207.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1262,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007068207.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CEBPZOS",
"gene_hgnc_id": 49288,
"hgvs_c": "n.469-1430T>A",
"hgvs_p": null,
"transcript": "XR_007068208.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1459,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007068208.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CEBPZOS",
"gene_hgnc_id": 49288,
"hgvs_c": "n.272-1430T>A",
"hgvs_p": null,
"transcript": "XR_007068209.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 668,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007068209.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CEBPZOS",
"gene_hgnc_id": 49288,
"hgvs_c": "n.5395-249T>A",
"hgvs_p": null,
"transcript": "XR_007068210.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5818,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007068210.1"
}
],
"gene_symbol": "CEBPZ",
"gene_hgnc_id": 24218,
"dbsnp": "rs779235292",
"frequency_reference_population": 6.941967e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.94197e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07218164205551147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.036,
"revel_prediction": "Benign",
"alphamissense_score": 0.0801,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.871,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005760.3",
"gene_symbol": "CEBPZ",
"hgnc_id": 24218,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2636A>T",
"hgvs_p": "p.Asp879Val"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000397064.6",
"gene_symbol": "CEBPZOS",
"hgnc_id": 49288,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*3-1430T>A",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000606229.1",
"gene_symbol": "ENSG00000272054",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.3133T>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
}