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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: 10-103089678-T-TTCC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=103089678&ref=T&alt=TTCC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP3"
],
"effects": [
"disruptive_inframe_insertion"
],
"gene_symbol": "NT5C2",
"hgnc_id": 8022,
"hgvs_c": "c.1701_1703dupGGA",
"hgvs_p": "p.Glu568dup",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001351170.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 4,
"criteria": [
"BS1"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "CNNM2",
"hgnc_id": 103,
"hgvs_c": "c.*12513_*12515dupCTC",
"hgvs_p": null,
"inheritance_mode": "SD,AD,AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_017649.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP3",
"acmg_score": 1,
"allele_count_reference_population": 82,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TTCC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "10",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Hereditary spastic paraplegia 45",
"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": "EE",
"aa_end": null,
"aa_length": 561,
"aa_ref": "E",
"aa_start": 560,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3525,
"cdna_start": 1884,
"cds_end": null,
"cds_length": 1686,
"cds_start": 1679,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001351169.2",
"gene_hgnc_id": 8022,
"gene_symbol": "NT5C2",
"hgvs_c": "c.1677_1679dupGGA",
"hgvs_p": "p.Glu560dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000404739.8",
"protein_coding": true,
"protein_id": "NP_001338098.1",
"strand": false,
"transcript": "NM_001351169.2",
"transcript_support_level": null
},
{
"aa_alt": "EE",
"aa_end": null,
"aa_length": 561,
"aa_ref": "E",
"aa_start": 560,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3525,
"cdna_start": 1884,
"cds_end": null,
"cds_length": 1686,
"cds_start": 1679,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000404739.8",
"gene_hgnc_id": 8022,
"gene_symbol": "NT5C2",
"hgvs_c": "c.1677_1679dupGGA",
"hgvs_p": "p.Glu560dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001351169.2",
"protein_coding": true,
"protein_id": "ENSP00000383960.3",
"strand": false,
"transcript": "ENST00000404739.8",
"transcript_support_level": 1
},
{
"aa_alt": "EE",
"aa_end": null,
"aa_length": 561,
"aa_ref": "E",
"aa_start": 560,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3435,
"cdna_start": 1774,
"cds_end": null,
"cds_length": 1686,
"cds_start": 1679,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000343289.9",
"gene_hgnc_id": 8022,
"gene_symbol": "NT5C2",
"hgvs_c": "c.1677_1679dupGGA",
"hgvs_p": "p.Glu560dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000339479.5",
"strand": false,
"transcript": "ENST00000343289.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 875,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15857,
"cdna_start": null,
"cds_end": null,
"cds_length": 2628,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_017649.5",
"gene_hgnc_id": 103,
"gene_symbol": "CNNM2",
"hgvs_c": "c.*12513_*12515dupCTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000369878.9",
"protein_coding": true,
"protein_id": "NP_060119.3",
"strand": true,
"transcript": "NM_017649.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 875,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 15857,
"cdna_start": null,
"cds_end": null,
"cds_length": 2628,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000369878.9",
"gene_hgnc_id": 103,
"gene_symbol": "CNNM2",
"hgvs_c": "c.*12513_*12515dupCTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017649.5",
"protein_coding": true,
"protein_id": "ENSP00000358894.3",
"strand": true,
"transcript": "ENST00000369878.9",
"transcript_support_level": 1
},
{
"aa_alt": "EE",
"aa_end": null,
"aa_length": 633,
"aa_ref": "E",
"aa_start": 632,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3395,
"cdna_start": 2100,
"cds_end": null,
"cds_length": 1902,
"cds_start": 1895,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000874311.1",
"gene_hgnc_id": 8022,
"gene_symbol": "NT5C2",
"hgvs_c": "c.1893_1895dupGGA",
"hgvs_p": "p.Glu632dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544370.1",
"strand": false,
"transcript": "ENST00000874311.1",
"transcript_support_level": null
},
{
"aa_alt": "EE",
"aa_end": null,
"aa_length": 625,
"aa_ref": "E",
"aa_start": 624,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2453,
"cdna_start": 1993,
"cds_end": null,
"cds_length": 1878,
"cds_start": 1871,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000920544.1",
"gene_hgnc_id": 8022,
"gene_symbol": "NT5C2",
"hgvs_c": "c.1869_1871dupGGA",
"hgvs_p": "p.Glu624dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590603.1",
"strand": false,
"transcript": "ENST00000920544.1",
"transcript_support_level": null
},
{
"aa_alt": "EE",
"aa_end": null,
"aa_length": 580,
"aa_ref": "E",
"aa_start": 579,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3351,
"cdna_start": 1827,
"cds_end": null,
"cds_length": 1743,
"cds_start": 1736,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000920542.1",
"gene_hgnc_id": 8022,
"gene_symbol": "NT5C2",
"hgvs_c": "c.1734_1736dupGGA",
"hgvs_p": "p.Glu579dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590601.1",
"strand": false,
"transcript": "ENST00000920542.1",
"transcript_support_level": null
},
{
"aa_alt": "EE",
"aa_end": null,
"aa_length": 572,
"aa_ref": "E",
"aa_start": 571,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3445,
"cdna_start": 1917,
"cds_end": null,
"cds_length": 1719,
"cds_start": 1712,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000874307.1",
"gene_hgnc_id": 8022,
"gene_symbol": "NT5C2",
"hgvs_c": "c.1710_1712dupGGA",
"hgvs_p": "p.Glu571dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544366.1",
"strand": false,
"transcript": "ENST00000874307.1",
"transcript_support_level": null
},
{
"aa_alt": "EE",
"aa_end": null,
"aa_length": 569,
"aa_ref": "E",
"aa_start": 568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3405,
"cdna_start": 1764,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1703,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001351170.2",
"gene_hgnc_id": 8022,
"gene_symbol": "NT5C2",
"hgvs_c": "c.1701_1703dupGGA",
"hgvs_p": "p.Glu568dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338099.1",
"strand": false,
"transcript": "NM_001351170.2",
"transcript_support_level": null
},
{
"aa_alt": "EE",
"aa_end": null,
"aa_length": 569,
"aa_ref": "E",
"aa_start": 568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3503,
"cdna_start": 1862,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1703,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001351171.2",
"gene_hgnc_id": 8022,
"gene_symbol": "NT5C2",
"hgvs_c": "c.1701_1703dupGGA",
"hgvs_p": "p.Glu568dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338100.1",
"strand": false,
"transcript": "NM_001351171.2",
"transcript_support_level": null
},
{
"aa_alt": "EE",
"aa_end": null,
"aa_length": 569,
"aa_ref": "E",
"aa_start": 568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3549,
"cdna_start": 1908,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1703,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001351172.2",
"gene_hgnc_id": 8022,
"gene_symbol": "NT5C2",
"hgvs_c": "c.1701_1703dupGGA",
"hgvs_p": "p.Glu568dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338101.1",
"strand": false,
"transcript": "NM_001351172.2",
"transcript_support_level": null
},
{
"aa_alt": "EE",
"aa_end": null,
"aa_length": 569,
"aa_ref": "E",
"aa_start": 568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3940,
"cdna_start": 2299,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1703,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001351173.2",
"gene_hgnc_id": 8022,
"gene_symbol": "NT5C2",
"hgvs_c": "c.1701_1703dupGGA",
"hgvs_p": "p.Glu568dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338102.1",
"strand": false,
"transcript": "NM_001351173.2",
"transcript_support_level": null
},
{
"aa_alt": "EE",
"aa_end": null,
"aa_length": 569,
"aa_ref": "E",
"aa_start": 568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3614,
"cdna_start": 2055,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1703,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000674860.1",
"gene_hgnc_id": 8022,
"gene_symbol": "NT5C2",
"hgvs_c": "c.1701_1703dupGGA",
"hgvs_p": "p.Glu568dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502816.1",
"strand": false,
"transcript": "ENST00000674860.1",
"transcript_support_level": null
},
{
"aa_alt": "EE",
"aa_end": null,
"aa_length": 569,
"aa_ref": "E",
"aa_start": 568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3555,
"cdna_start": 1898,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1703,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000874298.1",
"gene_hgnc_id": 8022,
"gene_symbol": "NT5C2",
"hgvs_c": "c.1701_1703dupGGA",
"hgvs_p": "p.Glu568dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544357.1",
"strand": false,
"transcript": "ENST00000874298.1",
"transcript_support_level": null
},
{
"aa_alt": "EE",
"aa_end": null,
"aa_length": 569,
"aa_ref": "E",
"aa_start": 568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3593,
"cdna_start": 1944,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1703,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000874299.1",
"gene_hgnc_id": 8022,
"gene_symbol": "NT5C2",
"hgvs_c": "c.1701_1703dupGGA",
"hgvs_p": "p.Glu568dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544358.1",
"strand": false,
"transcript": "ENST00000874299.1",
"transcript_support_level": null
},
{
"aa_alt": "EE",
"aa_end": null,
"aa_length": 569,
"aa_ref": "E",
"aa_start": 568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3415,
"cdna_start": 1891,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1703,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000874306.1",
"gene_hgnc_id": 8022,
"gene_symbol": "NT5C2",
"hgvs_c": "c.1701_1703dupGGA",
"hgvs_p": "p.Glu568dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544365.1",
"strand": false,
"transcript": "ENST00000874306.1",
"transcript_support_level": null
},
{
"aa_alt": "EE",
"aa_end": null,
"aa_length": 569,
"aa_ref": "E",
"aa_start": 568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3393,
"cdna_start": 1872,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1703,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000874315.1",
"gene_hgnc_id": 8022,
"gene_symbol": "NT5C2",
"hgvs_c": "c.1701_1703dupGGA",
"hgvs_p": "p.Glu568dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544374.1",
"strand": false,
"transcript": "ENST00000874315.1",
"transcript_support_level": null
},
{
"aa_alt": "EE",
"aa_end": null,
"aa_length": 569,
"aa_ref": "E",
"aa_start": 568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3329,
"cdna_start": 1810,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1703,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000964137.1",
"gene_hgnc_id": 8022,
"gene_symbol": "NT5C2",
"hgvs_c": "c.1701_1703dupGGA",
"hgvs_p": "p.Glu568dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634196.1",
"strand": false,
"transcript": "ENST00000964137.1",
"transcript_support_level": null
},
{
"aa_alt": "EE",
"aa_end": null,
"aa_length": 561,
"aa_ref": "E",
"aa_start": 560,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3381,
"cdna_start": 1740,
"cds_end": null,
"cds_length": 1686,
"cds_start": 1679,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001134373.3",
"gene_hgnc_id": 8022,
"gene_symbol": "NT5C2",
"hgvs_c": "c.1677_1679dupGGA",
"hgvs_p": "p.Glu560dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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