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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: 9-69375827-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=69375827&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 69375827,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001347995.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP1",
"gene_hgnc_id": 24820,
"hgvs_c": "c.674C>A",
"hgvs_p": "p.Pro225Gln",
"transcript": "NM_001347995.2",
"protein_id": "NP_001334924.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 603,
"cds_start": 674,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000303068.14",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347995.2"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP1",
"gene_hgnc_id": 24820,
"hgvs_c": "c.674C>A",
"hgvs_p": "p.Pro225Gln",
"transcript": "ENST00000303068.14",
"protein_id": "ENSP00000304435.8",
"transcript_support_level": 2,
"aa_start": 225,
"aa_end": null,
"aa_length": 603,
"cds_start": 674,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001347995.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000303068.14"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP1",
"gene_hgnc_id": 24820,
"hgvs_c": "c.215C>A",
"hgvs_p": "p.Pro72Gln",
"transcript": "ENST00000257515.12",
"protein_id": "ENSP00000257515.8",
"transcript_support_level": 1,
"aa_start": 72,
"aa_end": null,
"aa_length": 450,
"cds_start": 215,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000257515.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP1",
"gene_hgnc_id": 24820,
"hgvs_c": "n.215C>A",
"hgvs_p": null,
"transcript": "ENST00000377216.4",
"protein_id": "ENSP00000366422.4",
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000377216.4"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP1",
"gene_hgnc_id": 24820,
"hgvs_c": "n.45C>A",
"hgvs_p": null,
"transcript": "ENST00000460871.1",
"protein_id": null,
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000460871.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP1",
"gene_hgnc_id": 24820,
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Pro239Gln",
"transcript": "ENST00000956509.1",
"protein_id": "ENSP00000626568.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 617,
"cds_start": 716,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956509.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP1",
"gene_hgnc_id": 24820,
"hgvs_c": "c.617C>A",
"hgvs_p": "p.Pro206Gln",
"transcript": "ENST00000911498.1",
"protein_id": "ENSP00000581557.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 584,
"cds_start": 617,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911498.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP1",
"gene_hgnc_id": 24820,
"hgvs_c": "c.674C>A",
"hgvs_p": "p.Pro225Gln",
"transcript": "ENST00000956508.1",
"protein_id": "ENSP00000626567.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 567,
"cds_start": 674,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956508.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP1",
"gene_hgnc_id": 24820,
"hgvs_c": "c.617C>A",
"hgvs_p": "p.Pro206Gln",
"transcript": "ENST00000956510.1",
"protein_id": "ENSP00000626569.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 548,
"cds_start": 617,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956510.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP1",
"gene_hgnc_id": 24820,
"hgvs_c": "c.215C>A",
"hgvs_p": "p.Pro72Gln",
"transcript": "NM_001127608.3",
"protein_id": "NP_001121080.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 450,
"cds_start": 215,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127608.3"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP1",
"gene_hgnc_id": 24820,
"hgvs_c": "c.215C>A",
"hgvs_p": "p.Pro72Gln",
"transcript": "NM_004816.5",
"protein_id": "NP_004807.3",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 450,
"cds_start": 215,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004816.5"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP1",
"gene_hgnc_id": 24820,
"hgvs_c": "c.215C>A",
"hgvs_p": "p.Pro72Gln",
"transcript": "ENST00000455972.6",
"protein_id": "ENSP00000395675.1",
"transcript_support_level": 5,
"aa_start": 72,
"aa_end": null,
"aa_length": 450,
"cds_start": 215,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455972.6"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP1",
"gene_hgnc_id": 24820,
"hgvs_c": "c.617C>A",
"hgvs_p": "p.Pro206Gln",
"transcript": "XM_017015324.2",
"protein_id": "XP_016870813.2",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 584,
"cds_start": 617,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015324.2"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP1",
"gene_hgnc_id": 24820,
"hgvs_c": "c.674C>A",
"hgvs_p": "p.Pro225Gln",
"transcript": "XM_047424086.1",
"protein_id": "XP_047280042.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 490,
"cds_start": 674,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424086.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP1",
"gene_hgnc_id": 24820,
"hgvs_c": "c.215C>A",
"hgvs_p": "p.Pro72Gln",
"transcript": "XM_024447718.2",
"protein_id": "XP_024303486.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 450,
"cds_start": 215,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447718.2"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP1",
"gene_hgnc_id": 24820,
"hgvs_c": "c.674C>A",
"hgvs_p": "p.Pro225Gln",
"transcript": "XM_047424087.1",
"protein_id": "XP_047280043.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 347,
"cds_start": 674,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424087.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP1",
"gene_hgnc_id": 24820,
"hgvs_c": "c.674C>A",
"hgvs_p": "p.Pro225Gln",
"transcript": "XM_047424088.1",
"protein_id": "XP_047280044.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 322,
"cds_start": 674,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424088.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP1",
"gene_hgnc_id": 24820,
"hgvs_c": "n.262C>A",
"hgvs_p": null,
"transcript": "ENST00000643727.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000643727.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP1",
"gene_hgnc_id": 24820,
"hgvs_c": "n.46C>A",
"hgvs_p": null,
"transcript": "ENST00000645516.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000645516.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP1",
"gene_hgnc_id": 24820,
"hgvs_c": "n.310C>A",
"hgvs_p": null,
"transcript": "NR_170669.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_170669.1"
}
],
"gene_symbol": "ENTREP1",
"gene_hgnc_id": 24820,
"dbsnp": "rs368401844",
"frequency_reference_population": 0.0000043371692,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000410454,
"gnomad_genomes_af": 0.00000657203,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6786581873893738,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.23000000417232513,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.4,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8607,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.868,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.23,
"spliceai_max_prediction": "Uncertain_significance",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001347995.2",
"gene_symbol": "ENTREP1",
"hgnc_id": 24820,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.674C>A",
"hgvs_p": "p.Pro225Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}