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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: 9-69377419-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=69377419&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 69377419,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001347995.2",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP1",
"gene_hgnc_id": 24820,
"hgvs_c": "c.761G>T",
"hgvs_p": "p.Cys254Phe",
"transcript": "NM_001347995.2",
"protein_id": "NP_001334924.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 603,
"cds_start": 761,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 856,
"cdna_end": null,
"cdna_length": 2559,
"mane_select": "ENST00000303068.14",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347995.2"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP1",
"gene_hgnc_id": 24820,
"hgvs_c": "c.761G>T",
"hgvs_p": "p.Cys254Phe",
"transcript": "ENST00000303068.14",
"protein_id": "ENSP00000304435.8",
"transcript_support_level": 2,
"aa_start": 254,
"aa_end": null,
"aa_length": 603,
"cds_start": 761,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 856,
"cdna_end": null,
"cdna_length": 2559,
"mane_select": "NM_001347995.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000303068.14"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP1",
"gene_hgnc_id": 24820,
"hgvs_c": "c.302G>T",
"hgvs_p": "p.Cys101Phe",
"transcript": "ENST00000257515.12",
"protein_id": "ENSP00000257515.8",
"transcript_support_level": 1,
"aa_start": 101,
"aa_end": null,
"aa_length": 450,
"cds_start": 302,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 722,
"cdna_end": null,
"cdna_length": 2423,
"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": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP1",
"gene_hgnc_id": 24820,
"hgvs_c": "n.302G>T",
"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": 2211,
"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": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP1",
"gene_hgnc_id": 24820,
"hgvs_c": "n.132G>T",
"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": 1540,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000460871.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP1",
"gene_hgnc_id": 24820,
"hgvs_c": "c.803G>T",
"hgvs_p": "p.Cys268Phe",
"transcript": "ENST00000956509.1",
"protein_id": "ENSP00000626568.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 617,
"cds_start": 803,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1250,
"cdna_end": null,
"cdna_length": 2965,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956509.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"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.704G>T",
"hgvs_p": "p.Cys235Phe",
"transcript": "ENST00000911498.1",
"protein_id": "ENSP00000581557.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 584,
"cds_start": 704,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 1209,
"cdna_end": null,
"cdna_length": 2911,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911498.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP1",
"gene_hgnc_id": 24820,
"hgvs_c": "c.302G>T",
"hgvs_p": "p.Cys101Phe",
"transcript": "NM_001127608.3",
"protein_id": "NP_001121080.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 450,
"cds_start": 302,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 411,
"cdna_end": null,
"cdna_length": 2114,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127608.3"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP1",
"gene_hgnc_id": 24820,
"hgvs_c": "c.302G>T",
"hgvs_p": "p.Cys101Phe",
"transcript": "NM_004816.5",
"protein_id": "NP_004807.3",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 450,
"cds_start": 302,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 722,
"cdna_end": null,
"cdna_length": 2425,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004816.5"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP1",
"gene_hgnc_id": 24820,
"hgvs_c": "c.302G>T",
"hgvs_p": "p.Cys101Phe",
"transcript": "ENST00000455972.6",
"protein_id": "ENSP00000395675.1",
"transcript_support_level": 5,
"aa_start": 101,
"aa_end": null,
"aa_length": 450,
"cds_start": 302,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 411,
"cdna_end": null,
"cdna_length": 2216,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455972.6"
},
{
"aa_ref": "C",
"aa_alt": "F",
"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.704G>T",
"hgvs_p": "p.Cys235Phe",
"transcript": "XM_017015324.2",
"protein_id": "XP_016870813.2",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 584,
"cds_start": 704,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 799,
"cdna_end": null,
"cdna_length": 2502,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015324.2"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP1",
"gene_hgnc_id": 24820,
"hgvs_c": "c.761G>T",
"hgvs_p": "p.Cys254Phe",
"transcript": "XM_047424086.1",
"protein_id": "XP_047280042.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 490,
"cds_start": 761,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 856,
"cdna_end": null,
"cdna_length": 2266,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424086.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP1",
"gene_hgnc_id": 24820,
"hgvs_c": "c.302G>T",
"hgvs_p": "p.Cys101Phe",
"transcript": "XM_024447718.2",
"protein_id": "XP_024303486.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 450,
"cds_start": 302,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 928,
"cdna_end": null,
"cdna_length": 2631,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447718.2"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP1",
"gene_hgnc_id": 24820,
"hgvs_c": "c.761G>T",
"hgvs_p": "p.Cys254Phe",
"transcript": "XM_047424087.1",
"protein_id": "XP_047280043.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 347,
"cds_start": 761,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 856,
"cdna_end": null,
"cdna_length": 1243,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424087.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP1",
"gene_hgnc_id": 24820,
"hgvs_c": "c.761G>T",
"hgvs_p": "p.Cys254Phe",
"transcript": "XM_047424088.1",
"protein_id": "XP_047280044.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 322,
"cds_start": 761,
"cds_end": null,
"cds_length": 969,
"cdna_start": 856,
"cdna_end": null,
"cdna_length": 1973,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424088.1"
},
{
"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": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENTREP1",
"gene_hgnc_id": 24820,
"hgvs_c": "c.712-192G>T",
"hgvs_p": null,
"transcript": "ENST00000956508.1",
"protein_id": "ENSP00000626567.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 567,
"cds_start": null,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2909,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956508.1"
},
{
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENTREP1",
"gene_hgnc_id": 24820,
"hgvs_c": "c.655-192G>T",
"hgvs_p": null,
"transcript": "ENST00000956510.1",
"protein_id": "ENSP00000626569.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 548,
"cds_start": null,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2373,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956510.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_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": "n.349G>T",
"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": 2051,
"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": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP1",
"gene_hgnc_id": 24820,
"hgvs_c": "n.133G>T",
"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": 4045,
"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": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP1",
"gene_hgnc_id": 24820,
"hgvs_c": "n.397G>T",
"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": 2931,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_170669.1"
}
],
"gene_symbol": "ENTREP1",
"gene_hgnc_id": 24820,
"dbsnp": "rs985307036",
"frequency_reference_population": 0.000009293991,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.00000957693,
"gnomad_genomes_af": 0.00000657462,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8846131563186646,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.584,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9656,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.11,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.549,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.06,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001347995.2",
"gene_symbol": "ENTREP1",
"hgnc_id": 24820,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.761G>T",
"hgvs_p": "p.Cys254Phe"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}