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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: 1-92271626-AGG-CCT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=92271626&ref=AGG&alt=CCT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "GLMN",
"hgnc_id": 14373,
"hgvs_c": "c.760_762delCCTinsAGG",
"hgvs_p": "p.Pro254Arg",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_053274.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CCT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "1",
"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": "R",
"aa_end": null,
"aa_length": 594,
"aa_ref": "P",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2006,
"cdna_start": 855,
"cds_end": null,
"cds_length": 1785,
"cds_start": 760,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_053274.3",
"gene_hgnc_id": 14373,
"gene_symbol": "GLMN",
"hgvs_c": "c.760_762delCCTinsAGG",
"hgvs_p": "p.Pro254Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000370360.8",
"protein_coding": true,
"protein_id": "NP_444504.1",
"strand": false,
"transcript": "NM_053274.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 594,
"aa_ref": "P",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2006,
"cdna_start": 855,
"cds_end": null,
"cds_length": 1785,
"cds_start": 760,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000370360.8",
"gene_hgnc_id": 14373,
"gene_symbol": "GLMN",
"hgvs_c": "c.760_762delCCTinsAGG",
"hgvs_p": "p.Pro254Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_053274.3",
"protein_coding": true,
"protein_id": "ENSP00000359385.3",
"strand": false,
"transcript": "ENST00000370360.8",
"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": 1833,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000495106.5",
"gene_hgnc_id": 14373,
"gene_symbol": "GLMN",
"hgvs_c": "n.760_762delCCTinsAGG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000436829.1",
"strand": false,
"transcript": "ENST00000495106.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 616,
"aa_ref": "P",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1978,
"cdna_start": 853,
"cds_end": null,
"cds_length": 1851,
"cds_start": 760,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000931421.1",
"gene_hgnc_id": 14373,
"gene_symbol": "GLMN",
"hgvs_c": "c.760_762delCCTinsAGG",
"hgvs_p": "p.Pro254Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601480.1",
"strand": false,
"transcript": "ENST00000931421.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 606,
"aa_ref": "P",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1968,
"cdna_start": 911,
"cds_end": null,
"cds_length": 1821,
"cds_start": 796,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896612.1",
"gene_hgnc_id": 14373,
"gene_symbol": "GLMN",
"hgvs_c": "c.796_798delCCTinsAGG",
"hgvs_p": "p.Pro266Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566671.1",
"strand": false,
"transcript": "ENST00000896612.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 594,
"aa_ref": "P",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3008,
"cdna_start": 1243,
"cds_end": null,
"cds_length": 1785,
"cds_start": 760,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896609.1",
"gene_hgnc_id": 14373,
"gene_symbol": "GLMN",
"hgvs_c": "c.760_762delCCTinsAGG",
"hgvs_p": "p.Pro254Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566668.1",
"strand": false,
"transcript": "ENST00000896609.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 580,
"aa_ref": "P",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1964,
"cdna_start": 855,
"cds_end": null,
"cds_length": 1743,
"cds_start": 760,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001319683.2",
"gene_hgnc_id": 14373,
"gene_symbol": "GLMN",
"hgvs_c": "c.760_762delCCTinsAGG",
"hgvs_p": "p.Pro254Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001306612.1",
"strand": false,
"transcript": "NM_001319683.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 564,
"aa_ref": "P",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2066,
"cdna_start": 868,
"cds_end": null,
"cds_length": 1695,
"cds_start": 760,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896610.1",
"gene_hgnc_id": 14373,
"gene_symbol": "GLMN",
"hgvs_c": "c.760_762delCCTinsAGG",
"hgvs_p": "p.Pro254Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566669.1",
"strand": false,
"transcript": "ENST00000896610.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 554,
"aa_ref": "P",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1877,
"cdna_start": 726,
"cds_end": null,
"cds_length": 1665,
"cds_start": 640,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000931417.1",
"gene_hgnc_id": 14373,
"gene_symbol": "GLMN",
"hgvs_c": "c.640_642delCCTinsAGG",
"hgvs_p": "p.Pro214Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601476.1",
"strand": false,
"transcript": "ENST00000931417.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 552,
"aa_ref": "P",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1902,
"cdna_start": 751,
"cds_end": null,
"cds_length": 1659,
"cds_start": 634,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896611.1",
"gene_hgnc_id": 14373,
"gene_symbol": "GLMN",
"hgvs_c": "c.634_636delCCTinsAGG",
"hgvs_p": "p.Pro212Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566670.1",
"strand": false,
"transcript": "ENST00000896611.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 550,
"aa_ref": "P",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1780,
"cdna_start": 853,
"cds_end": null,
"cds_length": 1653,
"cds_start": 760,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000931420.1",
"gene_hgnc_id": 14373,
"gene_symbol": "GLMN",
"hgvs_c": "c.760_762delCCTinsAGG",
"hgvs_p": "p.Pro254Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601479.1",
"strand": false,
"transcript": "ENST00000931420.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 529,
"aa_ref": "P",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1810,
"cdna_start": 856,
"cds_end": null,
"cds_length": 1590,
"cds_start": 760,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000946567.1",
"gene_hgnc_id": 14373,
"gene_symbol": "GLMN",
"hgvs_c": "c.760_762delCCTinsAGG",
"hgvs_p": "p.Pro254Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616626.1",
"strand": false,
"transcript": "ENST00000946567.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 404,
"aa_ref": "P",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1447,
"cdna_start": 296,
"cds_end": null,
"cds_length": 1215,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000931415.1",
"gene_hgnc_id": 14373,
"gene_symbol": "GLMN",
"hgvs_c": "c.190_192delCCTinsAGG",
"hgvs_p": "p.Pro64Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601474.1",
"strand": false,
"transcript": "ENST00000931415.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 296,
"aa_ref": "P",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 891,
"cdna_start": 27,
"cds_end": null,
"cds_length": 891,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000495852.6",
"gene_hgnc_id": 14373,
"gene_symbol": "GLMN",
"hgvs_c": "c.25_27delCCTinsAGG",
"hgvs_p": "p.Pro9Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000469157.2",
"strand": false,
"transcript": "ENST00000495852.6",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 243,
"aa_ref": "P",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 734,
"cdna_start": 130,
"cds_end": null,
"cds_length": 733,
"cds_start": 127,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000463560.1",
"gene_hgnc_id": 14373,
"gene_symbol": "GLMN",
"hgvs_c": "c.127_129delCCTinsAGG",
"hgvs_p": "p.Pro43Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468973.1",
"strand": false,
"transcript": "ENST00000463560.1",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 627,
"aa_ref": "P",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2445,
"cdna_start": 1294,
"cds_end": null,
"cds_length": 1884,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017000137.2",
"gene_hgnc_id": 14373,
"gene_symbol": "GLMN",
"hgvs_c": "c.859_861delCCTinsAGG",
"hgvs_p": "p.Pro287Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016855626.1",
"strand": false,
"transcript": "XM_017000137.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 613,
"aa_ref": "P",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2403,
"cdna_start": 1294,
"cds_end": null,
"cds_length": 1842,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017000138.2",
"gene_hgnc_id": 14373,
"gene_symbol": "GLMN",
"hgvs_c": "c.859_861delCCTinsAGG",
"hgvs_p": "p.Pro287Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016855627.1",
"strand": false,
"transcript": "XM_017000138.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 594,
"aa_ref": "P",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5716,
"cdna_start": 4565,
"cds_end": null,
"cds_length": 1785,
"cds_start": 760,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011540546.3",
"gene_hgnc_id": 14373,
"gene_symbol": "GLMN",
"hgvs_c": "c.760_762delCCTinsAGG",
"hgvs_p": "p.Pro254Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011538848.1",
"strand": false,
"transcript": "XM_011540546.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 592,
"aa_ref": "P",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2340,
"cdna_start": 1294,
"cds_end": null,
"cds_length": 1779,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017000139.2",
"gene_hgnc_id": 14373,
"gene_symbol": "GLMN",
"hgvs_c": "c.859_861delCCTinsAGG",
"hgvs_p": "p.Pro287Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016855628.1",
"strand": false,
"transcript": "XM_017000139.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 585,
"aa_ref": "P",
"aa_start": 245,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2319,
"cdna_start": 1168,
"cds_end": null,
"cds_length": 1758,
"cds_start": 733,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017000140.2",
"gene_hgnc_id": 14373,
"gene_symbol": "GLMN",
"hgvs_c": "c.733_735delCCTinsAGG",
"hgvs_p": "p.Pro245Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016855629.1",
"strand": false,
"transcript": "XM_017000140.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 559,
"aa_ref": "P",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1901,
"cdna_start": 855,
"cds_end": null,
"cds_length": 1680,
"cds_start": 760,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017000141.2",
"gene_hgnc_id": 14373,
"gene_symbol": "GLMN",
"hgvs_c": "c.760_762delCCTinsAGG",
"hgvs_p": "p.Pro254Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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