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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: 10-95664120-TG-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=95664120&ref=TG&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1_Moderate"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "TCTN3",
"hgnc_id": 24519,
"hgvs_c": "c.1770delC",
"hgvs_p": "p.Ile591fs",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_015631.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate",
"acmg_score": 2,
"allele_count_reference_population": 18,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "10",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Ciliopathy",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 607,
"aa_ref": "P",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2518,
"cdna_start": 1798,
"cds_end": null,
"cds_length": 1824,
"cds_start": 1770,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_015631.6",
"gene_hgnc_id": 24519,
"gene_symbol": "TCTN3",
"hgvs_c": "c.1770delC",
"hgvs_p": "p.Ile591fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000371217.10",
"protein_coding": true,
"protein_id": "NP_056446.4",
"strand": false,
"transcript": "NM_015631.6",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 607,
"aa_ref": "P",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2518,
"cdna_start": 1798,
"cds_end": null,
"cds_length": 1824,
"cds_start": 1770,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000371217.10",
"gene_hgnc_id": 24519,
"gene_symbol": "TCTN3",
"hgvs_c": "c.1770delC",
"hgvs_p": "p.Ile591fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015631.6",
"protein_coding": true,
"protein_id": "ENSP00000360261.5",
"strand": false,
"transcript": "ENST00000371217.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 625,
"aa_ref": "P",
"aa_start": 608,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2734,
"cdna_start": 2014,
"cds_end": null,
"cds_length": 1878,
"cds_start": 1824,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000265993.13",
"gene_hgnc_id": 24519,
"gene_symbol": "TCTN3",
"hgvs_c": "c.1824delC",
"hgvs_p": "p.Ile609fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000265993.9",
"strand": false,
"transcript": "ENST00000265993.13",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 620,
"aa_ref": "P",
"aa_start": 603,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2552,
"cdna_start": 1845,
"cds_end": null,
"cds_length": 1863,
"cds_start": 1809,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000614499.5",
"gene_hgnc_id": 24519,
"gene_symbol": "TCTN3",
"hgvs_c": "c.1809delC",
"hgvs_p": "p.Ile604fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000483364.2",
"strand": false,
"transcript": "ENST00000614499.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 459,
"aa_ref": "P",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1778,
"cdna_start": 1353,
"cds_end": null,
"cds_length": 1380,
"cds_start": 1326,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000430368.6",
"gene_hgnc_id": 24519,
"gene_symbol": "TCTN3",
"hgvs_c": "c.1326delC",
"hgvs_p": "p.Ile443fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387567.1",
"strand": false,
"transcript": "ENST00000430368.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 614,
"aa_ref": "P",
"aa_start": 597,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2057,
"cdna_start": 1818,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1791,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000898873.1",
"gene_hgnc_id": 24519,
"gene_symbol": "TCTN3",
"hgvs_c": "c.1791delC",
"hgvs_p": "p.Ile598fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568932.1",
"strand": false,
"transcript": "ENST00000898873.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 605,
"aa_ref": "P",
"aa_start": 588,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2543,
"cdna_start": 1823,
"cds_end": null,
"cds_length": 1818,
"cds_start": 1764,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000898868.1",
"gene_hgnc_id": 24519,
"gene_symbol": "TCTN3",
"hgvs_c": "c.1764delC",
"hgvs_p": "p.Ile589fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568927.1",
"strand": false,
"transcript": "ENST00000898868.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 604,
"aa_ref": "P",
"aa_start": 587,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2525,
"cdna_start": 1820,
"cds_end": null,
"cds_length": 1815,
"cds_start": 1761,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000939774.1",
"gene_hgnc_id": 24519,
"gene_symbol": "TCTN3",
"hgvs_c": "c.1761delC",
"hgvs_p": "p.Ile588fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609833.1",
"strand": false,
"transcript": "ENST00000939774.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 600,
"aa_ref": "P",
"aa_start": 583,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2506,
"cdna_start": 1797,
"cds_end": null,
"cds_length": 1803,
"cds_start": 1749,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000898870.1",
"gene_hgnc_id": 24519,
"gene_symbol": "TCTN3",
"hgvs_c": "c.1749delC",
"hgvs_p": "p.Ile584fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568929.1",
"strand": false,
"transcript": "ENST00000898870.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 600,
"aa_ref": "P",
"aa_start": 583,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2964,
"cdna_start": 1775,
"cds_end": null,
"cds_length": 1803,
"cds_start": 1749,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000956556.1",
"gene_hgnc_id": 24519,
"gene_symbol": "TCTN3",
"hgvs_c": "c.1749delC",
"hgvs_p": "p.Ile584fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626615.1",
"strand": false,
"transcript": "ENST00000956556.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 580,
"aa_ref": "P",
"aa_start": 563,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4934,
"cdna_start": 1744,
"cds_end": null,
"cds_length": 1743,
"cds_start": 1689,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000898866.1",
"gene_hgnc_id": 24519,
"gene_symbol": "TCTN3",
"hgvs_c": "c.1689delC",
"hgvs_p": "p.Ile564fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568925.1",
"strand": false,
"transcript": "ENST00000898866.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 575,
"aa_ref": "P",
"aa_start": 558,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2422,
"cdna_start": 1702,
"cds_end": null,
"cds_length": 1728,
"cds_start": 1674,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001410982.1",
"gene_hgnc_id": 24519,
"gene_symbol": "TCTN3",
"hgvs_c": "c.1674delC",
"hgvs_p": "p.Ile559fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397911.1",
"strand": false,
"transcript": "NM_001410982.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 575,
"aa_ref": "P",
"aa_start": 558,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2414,
"cdna_start": 1694,
"cds_end": null,
"cds_length": 1728,
"cds_start": 1674,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000680144.1",
"gene_hgnc_id": 24519,
"gene_symbol": "TCTN3",
"hgvs_c": "c.1674delC",
"hgvs_p": "p.Ile559fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506398.1",
"strand": false,
"transcript": "ENST00000680144.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 573,
"aa_ref": "P",
"aa_start": 556,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2425,
"cdna_start": 1720,
"cds_end": null,
"cds_length": 1722,
"cds_start": 1668,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000939775.1",
"gene_hgnc_id": 24519,
"gene_symbol": "TCTN3",
"hgvs_c": "c.1668delC",
"hgvs_p": "p.Ile557fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609834.1",
"strand": false,
"transcript": "ENST00000939775.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 573,
"aa_ref": "P",
"aa_start": 556,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1930,
"cdna_start": 1690,
"cds_end": null,
"cds_length": 1722,
"cds_start": 1668,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000956559.1",
"gene_hgnc_id": 24519,
"gene_symbol": "TCTN3",
"hgvs_c": "c.1668delC",
"hgvs_p": "p.Ile557fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626618.1",
"strand": false,
"transcript": "ENST00000956559.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 561,
"aa_ref": "P",
"aa_start": 544,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2395,
"cdna_start": 1678,
"cds_end": null,
"cds_length": 1686,
"cds_start": 1632,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000898869.1",
"gene_hgnc_id": 24519,
"gene_symbol": "TCTN3",
"hgvs_c": "c.1632delC",
"hgvs_p": "p.Ile545fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568928.1",
"strand": false,
"transcript": "ENST00000898869.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 538,
"aa_ref": "P",
"aa_start": 521,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2307,
"cdna_start": 1587,
"cds_end": null,
"cds_length": 1617,
"cds_start": 1563,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000939777.1",
"gene_hgnc_id": 24519,
"gene_symbol": "TCTN3",
"hgvs_c": "c.1563delC",
"hgvs_p": "p.Ile522fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609836.1",
"strand": false,
"transcript": "ENST00000939777.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 534,
"aa_ref": "P",
"aa_start": 517,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2320,
"cdna_start": 1603,
"cds_end": null,
"cds_length": 1605,
"cds_start": 1551,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000956557.1",
"gene_hgnc_id": 24519,
"gene_symbol": "TCTN3",
"hgvs_c": "c.1551delC",
"hgvs_p": "p.Ile518fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626616.1",
"strand": false,
"transcript": "ENST00000956557.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 528,
"aa_ref": "P",
"aa_start": 511,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2316,
"cdna_start": 1598,
"cds_end": null,
"cds_length": 1587,
"cds_start": 1533,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000898867.1",
"gene_hgnc_id": 24519,
"gene_symbol": "TCTN3",
"hgvs_c": "c.1533delC",
"hgvs_p": "p.Ile512fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568926.1",
"strand": false,
"transcript": "ENST00000898867.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 526,
"aa_ref": "P",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2274,
"cdna_start": 1556,
"cds_end": null,
"cds_length": 1581,
"cds_start": 1527,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000939776.1",
"gene_hgnc_id": 24519,
"gene_symbol": "TCTN3",
"hgvs_c": "c.1527delC",
"hgvs_p": "p.Ile510fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609835.1",
"strand": false,
"transcript": "ENST00000939776.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 524,
"aa_ref": "P",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5872,
"cdna_start": 1574,
"cds_end": null,
"cds_length": 1575,
"cds_start": 1521,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000680353.1",
"gene_hgnc_id": 24519,
"gene_symbol": "TCTN3",
"hgvs_c": "c.1521delC",
"hgvs_p": "p.Ile508fs",
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