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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: 5-111735463-AAA-TAT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=111735463&ref=AAA&alt=TAT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "NREP",
"hgnc_id": 16834,
"hgvs_c": "c.178_180delTTTinsATA",
"hgvs_p": "p.Phe60Ile",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001142475.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "STARD4-AS1",
"hgnc_id": 44117,
"hgvs_c": "n.4102+617_4102+619delAAAinsTAT",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000500779.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TAT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 68,
"aa_ref": "F",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1942,
"cdna_start": 165,
"cds_end": null,
"cds_length": 207,
"cds_start": 46,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_004772.4",
"gene_hgnc_id": 16834,
"gene_symbol": "NREP",
"hgvs_c": "c.46_48delTTTinsATA",
"hgvs_p": "p.Phe16Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000257435.12",
"protein_coding": true,
"protein_id": "NP_004763.1",
"strand": false,
"transcript": "NM_004772.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 68,
"aa_ref": "F",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1942,
"cdna_start": 165,
"cds_end": null,
"cds_length": 207,
"cds_start": 46,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000257435.12",
"gene_hgnc_id": 16834,
"gene_symbol": "NREP",
"hgvs_c": "c.46_48delTTTinsATA",
"hgvs_p": "p.Phe16Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004772.4",
"protein_coding": true,
"protein_id": "ENSP00000257435.7",
"strand": false,
"transcript": "ENST00000257435.12",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 68,
"aa_ref": "F",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2581,
"cdna_start": 313,
"cds_end": null,
"cds_length": 207,
"cds_start": 46,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000379671.7",
"gene_hgnc_id": 16834,
"gene_symbol": "NREP",
"hgvs_c": "c.46_48delTTTinsATA",
"hgvs_p": "p.Phe16Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000368993.3",
"strand": false,
"transcript": "ENST00000379671.7",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 68,
"aa_ref": "F",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2304,
"cdna_start": 527,
"cds_end": null,
"cds_length": 207,
"cds_start": 46,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000447165.6",
"gene_hgnc_id": 16834,
"gene_symbol": "NREP",
"hgvs_c": "c.46_48delTTTinsATA",
"hgvs_p": "p.Phe16Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000408839.2",
"strand": false,
"transcript": "ENST00000447165.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1079,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000503429.1",
"gene_hgnc_id": 16834,
"gene_symbol": "NREP",
"hgvs_c": "n.102_104delTTTinsATA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000503429.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 653,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000504018.1",
"gene_hgnc_id": 16834,
"gene_symbol": "NREP",
"hgvs_c": "n.525_527delTTTinsATA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000504018.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3564,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000514515.5",
"gene_hgnc_id": 16834,
"gene_symbol": "NREP",
"hgvs_c": "n.46_48delTTTinsATA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000427595.1",
"strand": false,
"transcript": "ENST00000514515.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 5525,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000500779.2",
"gene_hgnc_id": 44117,
"gene_symbol": "STARD4-AS1",
"hgvs_c": "n.4102+617_4102+619delAAAinsTAT",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000500779.2",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 112,
"aa_ref": "F",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2651,
"cdna_start": 373,
"cds_end": null,
"cds_length": 339,
"cds_start": 178,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001142475.2",
"gene_hgnc_id": 16834,
"gene_symbol": "NREP",
"hgvs_c": "c.178_180delTTTinsATA",
"hgvs_p": "p.Phe60Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001135947.1",
"strand": false,
"transcript": "NM_001142475.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 112,
"aa_ref": "F",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1468,
"cdna_start": 372,
"cds_end": null,
"cds_length": 339,
"cds_start": 178,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000395634.7",
"gene_hgnc_id": 16834,
"gene_symbol": "NREP",
"hgvs_c": "c.178_180delTTTinsATA",
"hgvs_p": "p.Phe60Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378996.3",
"strand": false,
"transcript": "ENST00000395634.7",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 102,
"aa_ref": "F",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2621,
"cdna_start": 343,
"cds_end": null,
"cds_length": 309,
"cds_start": 148,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001142474.2",
"gene_hgnc_id": 16834,
"gene_symbol": "NREP",
"hgvs_c": "c.148_150delTTTinsATA",
"hgvs_p": "p.Phe50Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001135946.1",
"strand": false,
"transcript": "NM_001142474.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 68,
"aa_ref": "F",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2201,
"cdna_start": 424,
"cds_end": null,
"cds_length": 207,
"cds_start": 46,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001142476.1",
"gene_hgnc_id": 16834,
"gene_symbol": "NREP",
"hgvs_c": "c.46_48delTTTinsATA",
"hgvs_p": "p.Phe16Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001135948.1",
"strand": false,
"transcript": "NM_001142476.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 68,
"aa_ref": "F",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2092,
"cdna_start": 315,
"cds_end": null,
"cds_length": 207,
"cds_start": 46,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001142477.1",
"gene_hgnc_id": 16834,
"gene_symbol": "NREP",
"hgvs_c": "c.46_48delTTTinsATA",
"hgvs_p": "p.Phe16Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001135949.1",
"strand": false,
"transcript": "NM_001142477.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 68,
"aa_ref": "F",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2596,
"cdna_start": 318,
"cds_end": null,
"cds_length": 207,
"cds_start": 46,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001142478.2",
"gene_hgnc_id": 16834,
"gene_symbol": "NREP",
"hgvs_c": "c.46_48delTTTinsATA",
"hgvs_p": "p.Phe16Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001135950.1",
"strand": false,
"transcript": "NM_001142478.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 68,
"aa_ref": "F",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2105,
"cdna_start": 328,
"cds_end": null,
"cds_length": 207,
"cds_start": 46,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001142479.1",
"gene_hgnc_id": 16834,
"gene_symbol": "NREP",
"hgvs_c": "c.46_48delTTTinsATA",
"hgvs_p": "p.Phe16Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001135951.1",
"strand": false,
"transcript": "NM_001142479.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 68,
"aa_ref": "F",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2099,
"cdna_start": 322,
"cds_end": null,
"cds_length": 207,
"cds_start": 46,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001142480.1",
"gene_hgnc_id": 16834,
"gene_symbol": "NREP",
"hgvs_c": "c.46_48delTTTinsATA",
"hgvs_p": "p.Phe16Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001135952.1",
"strand": false,
"transcript": "NM_001142480.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 68,
"aa_ref": "F",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2008,
"cdna_start": 231,
"cds_end": null,
"cds_length": 207,
"cds_start": 46,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001142481.1",
"gene_hgnc_id": 16834,
"gene_symbol": "NREP",
"hgvs_c": "c.46_48delTTTinsATA",
"hgvs_p": "p.Phe16Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001135953.1",
"strand": false,
"transcript": "NM_001142481.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 68,
"aa_ref": "F",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2015,
"cdna_start": 238,
"cds_end": null,
"cds_length": 207,
"cds_start": 46,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001142482.1",
"gene_hgnc_id": 16834,
"gene_symbol": "NREP",
"hgvs_c": "c.46_48delTTTinsATA",
"hgvs_p": "p.Phe16Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001135954.1",
"strand": false,
"transcript": "NM_001142482.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 68,
"aa_ref": "F",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2304,
"cdna_start": 527,
"cds_end": null,
"cds_length": 207,
"cds_start": 46,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001142483.1",
"gene_hgnc_id": 16834,
"gene_symbol": "NREP",
"hgvs_c": "c.46_48delTTTinsATA",
"hgvs_p": "p.Phe16Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001135955.1",
"strand": false,
"transcript": "NM_001142483.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 68,
"aa_ref": "F",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 704,
"cdna_start": 328,
"cds_end": null,
"cds_length": 207,
"cds_start": 46,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000419114.6",
"gene_hgnc_id": 16834,
"gene_symbol": "NREP",
"hgvs_c": "c.46_48delTTTinsATA",
"hgvs_p": "p.Phe16Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000399766.2",
"strand": false,
"transcript": "ENST00000419114.6",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 68,
"aa_ref": "F",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2065,
"cdna_start": 301,
"cds_end": null,
"cds_length": 207,
"cds_start": 46,
"consequences": [
"missense_variant"
],
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