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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: 19-6752701-CC-TT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=6752701&ref=CC&alt=TT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "SH2D3A",
"hgnc_id": 16885,
"hgvs_c": "c.1709_1710delGGinsAA",
"hgvs_p": "p.Arg570Gln",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001439225.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "19",
"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": "Q",
"aa_end": null,
"aa_length": 576,
"aa_ref": "R",
"aa_start": 541,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2281,
"cdna_start": 1740,
"cds_end": null,
"cds_length": 1731,
"cds_start": 1622,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_005490.3",
"gene_hgnc_id": 16885,
"gene_symbol": "SH2D3A",
"hgvs_c": "c.1622_1623delGGinsAA",
"hgvs_p": "p.Arg541Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000245908.11",
"protein_coding": true,
"protein_id": "NP_005481.2",
"strand": false,
"transcript": "NM_005490.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 576,
"aa_ref": "R",
"aa_start": 541,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2281,
"cdna_start": 1740,
"cds_end": null,
"cds_length": 1731,
"cds_start": 1622,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000245908.11",
"gene_hgnc_id": 16885,
"gene_symbol": "SH2D3A",
"hgvs_c": "c.1622_1623delGGinsAA",
"hgvs_p": "p.Arg541Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005490.3",
"protein_coding": true,
"protein_id": "ENSP00000245908.5",
"strand": false,
"transcript": "ENST00000245908.11",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 605,
"aa_ref": "R",
"aa_start": 570,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2368,
"cdna_start": 1827,
"cds_end": null,
"cds_length": 1818,
"cds_start": 1709,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001439225.1",
"gene_hgnc_id": 16885,
"gene_symbol": "SH2D3A",
"hgvs_c": "c.1709_1710delGGinsAA",
"hgvs_p": "p.Arg570Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426154.1",
"strand": false,
"transcript": "NM_001439225.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 605,
"aa_ref": "R",
"aa_start": 570,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2433,
"cdna_start": 1892,
"cds_end": null,
"cds_length": 1818,
"cds_start": 1709,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892014.1",
"gene_hgnc_id": 16885,
"gene_symbol": "SH2D3A",
"hgvs_c": "c.1709_1710delGGinsAA",
"hgvs_p": "p.Arg570Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562073.1",
"strand": false,
"transcript": "ENST00000892014.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 604,
"aa_ref": "R",
"aa_start": 569,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2391,
"cdna_start": 1850,
"cds_end": null,
"cds_length": 1815,
"cds_start": 1706,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892016.1",
"gene_hgnc_id": 16885,
"gene_symbol": "SH2D3A",
"hgvs_c": "c.1706_1707delGGinsAA",
"hgvs_p": "p.Arg569Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562075.1",
"strand": false,
"transcript": "ENST00000892016.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 604,
"aa_ref": "R",
"aa_start": 569,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2378,
"cdna_start": 1837,
"cds_end": null,
"cds_length": 1815,
"cds_start": 1706,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892018.1",
"gene_hgnc_id": 16885,
"gene_symbol": "SH2D3A",
"hgvs_c": "c.1706_1707delGGinsAA",
"hgvs_p": "p.Arg569Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562077.1",
"strand": false,
"transcript": "ENST00000892018.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 592,
"aa_ref": "R",
"aa_start": 557,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2350,
"cdna_start": 1809,
"cds_end": null,
"cds_length": 1779,
"cds_start": 1670,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892017.1",
"gene_hgnc_id": 16885,
"gene_symbol": "SH2D3A",
"hgvs_c": "c.1670_1671delGGinsAA",
"hgvs_p": "p.Arg557Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562076.1",
"strand": false,
"transcript": "ENST00000892017.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 583,
"aa_ref": "R",
"aa_start": 548,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2360,
"cdna_start": 1837,
"cds_end": null,
"cds_length": 1752,
"cds_start": 1643,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000917564.1",
"gene_hgnc_id": 16885,
"gene_symbol": "SH2D3A",
"hgvs_c": "c.1643_1644delGGinsAA",
"hgvs_p": "p.Arg548Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587623.1",
"strand": false,
"transcript": "ENST00000917564.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 576,
"aa_ref": "R",
"aa_start": 541,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2342,
"cdna_start": 1808,
"cds_end": null,
"cds_length": 1731,
"cds_start": 1622,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892013.1",
"gene_hgnc_id": 16885,
"gene_symbol": "SH2D3A",
"hgvs_c": "c.1622_1623delGGinsAA",
"hgvs_p": "p.Arg541Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562072.1",
"strand": false,
"transcript": "ENST00000892013.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 575,
"aa_ref": "R",
"aa_start": 540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2278,
"cdna_start": 1737,
"cds_end": null,
"cds_length": 1728,
"cds_start": 1619,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001386585.1",
"gene_hgnc_id": 16885,
"gene_symbol": "SH2D3A",
"hgvs_c": "c.1619_1620delGGinsAA",
"hgvs_p": "p.Arg540Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373514.1",
"strand": false,
"transcript": "NM_001386585.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 575,
"aa_ref": "R",
"aa_start": 540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2318,
"cdna_start": 1777,
"cds_end": null,
"cds_length": 1728,
"cds_start": 1619,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892015.1",
"gene_hgnc_id": 16885,
"gene_symbol": "SH2D3A",
"hgvs_c": "c.1619_1620delGGinsAA",
"hgvs_p": "p.Arg540Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562074.1",
"strand": false,
"transcript": "ENST00000892015.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 575,
"aa_ref": "R",
"aa_start": 540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2329,
"cdna_start": 1788,
"cds_end": null,
"cds_length": 1728,
"cds_start": 1619,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000917566.1",
"gene_hgnc_id": 16885,
"gene_symbol": "SH2D3A",
"hgvs_c": "c.1619_1620delGGinsAA",
"hgvs_p": "p.Arg540Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587625.1",
"strand": false,
"transcript": "ENST00000917566.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 570,
"aa_ref": "R",
"aa_start": 535,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2376,
"cdna_start": 1835,
"cds_end": null,
"cds_length": 1713,
"cds_start": 1604,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000917563.1",
"gene_hgnc_id": 16885,
"gene_symbol": "SH2D3A",
"hgvs_c": "c.1604_1605delGGinsAA",
"hgvs_p": "p.Arg535Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587622.1",
"strand": false,
"transcript": "ENST00000917563.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 510,
"aa_ref": "R",
"aa_start": 475,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2231,
"cdna_start": 1690,
"cds_end": null,
"cds_length": 1533,
"cds_start": 1424,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001439226.1",
"gene_hgnc_id": 16885,
"gene_symbol": "SH2D3A",
"hgvs_c": "c.1424_1425delGGinsAA",
"hgvs_p": "p.Arg475Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426155.1",
"strand": false,
"transcript": "NM_001439226.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 485,
"aa_ref": "R",
"aa_start": 450,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2008,
"cdna_start": 1467,
"cds_end": null,
"cds_length": 1458,
"cds_start": 1349,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001439227.1",
"gene_hgnc_id": 16885,
"gene_symbol": "SH2D3A",
"hgvs_c": "c.1349_1350delGGinsAA",
"hgvs_p": "p.Arg450Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426156.1",
"strand": false,
"transcript": "NM_001439227.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 483,
"aa_ref": "R",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2018,
"cdna_start": 1477,
"cds_end": null,
"cds_length": 1452,
"cds_start": 1343,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001439228.1",
"gene_hgnc_id": 16885,
"gene_symbol": "SH2D3A",
"hgvs_c": "c.1343_1344delGGinsAA",
"hgvs_p": "p.Arg448Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426157.1",
"strand": false,
"transcript": "NM_001439228.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 483,
"aa_ref": "R",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2013,
"cdna_start": 1477,
"cds_end": null,
"cds_length": 1452,
"cds_start": 1343,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000437152.7",
"gene_hgnc_id": 16885,
"gene_symbol": "SH2D3A",
"hgvs_c": "c.1343_1344delGGinsAA",
"hgvs_p": "p.Arg448Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000393303.2",
"strand": false,
"transcript": "ENST00000437152.7",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 481,
"aa_ref": "R",
"aa_start": 446,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2144,
"cdna_start": 1603,
"cds_end": null,
"cds_length": 1446,
"cds_start": 1337,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001439229.1",
"gene_hgnc_id": 16885,
"gene_symbol": "SH2D3A",
"hgvs_c": "c.1337_1338delGGinsAA",
"hgvs_p": "p.Arg446Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426158.1",
"strand": false,
"transcript": "NM_001439229.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 467,
"aa_ref": "R",
"aa_start": 432,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1980,
"cdna_start": 1469,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1295,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000948758.1",
"gene_hgnc_id": 16885,
"gene_symbol": "SH2D3A",
"hgvs_c": "c.1295_1296delGGinsAA",
"hgvs_p": "p.Arg432Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618817.1",
"strand": false,
"transcript": "ENST00000948758.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 463,
"aa_ref": "R",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1942,
"cdna_start": 1401,
"cds_end": null,
"cds_length": 1392,
"cds_start": 1283,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001386586.1",
"gene_hgnc_id": 16885,
"gene_symbol": "SH2D3A",
"hgvs_c": "c.1283_1284delGGinsAA",
"hgvs_p": "p.Arg428Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373515.1",
"strand": false,
"transcript": "NM_001386586.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 456,
"aa_ref": "R",
"aa_start": 421,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1921,
"cdna_start": 1380,
"cds_end": null,
"cds_length": 1371,
"cds_start": 1262,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
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