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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: 2-178548443-AC-CG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178548443&ref=AC&alt=CG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "TTN",
"hgnc_id": 12403,
"hgvs_c": "c.93182_93183delGTinsCG",
"hgvs_p": "p.Arg31061Pro",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001267550.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "TTN-AS1",
"hgnc_id": 44124,
"hgvs_c": "n.2043+6082_2043+6083delACinsCG",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000419746.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "2",
"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": "P",
"aa_end": null,
"aa_length": 35991,
"aa_ref": "R",
"aa_start": 31061,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 109224,
"cdna_start": 93408,
"cds_end": null,
"cds_length": 107976,
"cds_start": 93182,
"consequences": [
"missense_variant"
],
"exon_count": 363,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001267550.2",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.93182_93183delGTinsCG",
"hgvs_p": "p.Arg31061Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000589042.5",
"protein_coding": true,
"protein_id": "NP_001254479.2",
"strand": false,
"transcript": "NM_001267550.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 35991,
"aa_ref": "R",
"aa_start": 31061,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 109224,
"cdna_start": 93408,
"cds_end": null,
"cds_length": 107976,
"cds_start": 93182,
"consequences": [
"missense_variant"
],
"exon_count": 363,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000589042.5",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.93182_93183delGTinsCG",
"hgvs_p": "p.Arg31061Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001267550.2",
"protein_coding": true,
"protein_id": "ENSP00000467141.1",
"strand": false,
"transcript": "ENST00000589042.5",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 35939,
"aa_ref": "R",
"aa_start": 31009,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 109068,
"cdna_start": 93252,
"cds_end": null,
"cds_length": 107820,
"cds_start": 93026,
"consequences": [
"missense_variant"
],
"exon_count": 361,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000446966.2",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.93026_93027delGTinsCG",
"hgvs_p": "p.Arg31009Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000408004.2",
"strand": false,
"transcript": "ENST00000446966.2",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 35899,
"aa_ref": "R",
"aa_start": 30969,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 108948,
"cdna_start": 93132,
"cds_end": null,
"cds_length": 107700,
"cds_start": 92906,
"consequences": [
"missense_variant"
],
"exon_count": 361,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000436599.2",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.92906_92907delGTinsCG",
"hgvs_p": "p.Arg30969Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000405517.2",
"strand": false,
"transcript": "ENST00000436599.2",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 35805,
"aa_ref": "R",
"aa_start": 30875,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 108666,
"cdna_start": 92850,
"cds_end": null,
"cds_length": 107418,
"cds_start": 92624,
"consequences": [
"missense_variant"
],
"exon_count": 356,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000426232.6",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.92624_92625delGTinsCG",
"hgvs_p": "p.Arg30875Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392336.2",
"strand": false,
"transcript": "ENST00000426232.6",
"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": 4592,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000419746.5",
"gene_hgnc_id": 44124,
"gene_symbol": "TTN-AS1",
"hgvs_c": "n.2043+6082_2043+6083delACinsCG",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000419746.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 35991,
"aa_ref": "R",
"aa_start": 31061,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 109488,
"cdna_start": 93672,
"cds_end": null,
"cds_length": 107976,
"cds_start": 93182,
"consequences": [
"missense_variant"
],
"exon_count": 365,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000412264.2",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.93182_93183delGTinsCG",
"hgvs_p": "p.Arg31061Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000394672.2",
"strand": false,
"transcript": "ENST00000412264.2",
"transcript_support_level": 3
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 35963,
"aa_ref": "R",
"aa_start": 31033,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 109140,
"cdna_start": 93324,
"cds_end": null,
"cds_length": 107892,
"cds_start": 93098,
"consequences": [
"missense_variant"
],
"exon_count": 362,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000425332.3",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.93098_93099delGTinsCG",
"hgvs_p": "p.Arg31033Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000396805.3",
"strand": false,
"transcript": "ENST00000425332.3",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 35853,
"aa_ref": "R",
"aa_start": 30923,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 108810,
"cdna_start": 92994,
"cds_end": null,
"cds_length": 107562,
"cds_start": 92768,
"consequences": [
"missense_variant"
],
"exon_count": 360,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000715174.1",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.92768_92769delGTinsCG",
"hgvs_p": "p.Arg30923Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000520370.1",
"strand": false,
"transcript": "ENST00000715174.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 34350,
"aa_ref": "R",
"aa_start": 29420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 104301,
"cdna_start": 88485,
"cds_end": null,
"cds_length": 103053,
"cds_start": 88259,
"consequences": [
"missense_variant"
],
"exon_count": 313,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001256850.1",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.88259_88260delGTinsCG",
"hgvs_p": "p.Arg29420Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243779.1",
"strand": false,
"transcript": "NM_001256850.1",
"transcript_support_level": null
},
{
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"aa_length": 34350,
"aa_ref": "R",
"aa_start": 29420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 104301,
"cdna_start": 88485,
"cds_end": null,
"cds_length": 103053,
"cds_start": 88259,
"consequences": [
"missense_variant"
],
"exon_count": 313,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000591111.5",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.88259_88260delGTinsCG",
"hgvs_p": "p.Arg29420Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465570.1",
"strand": false,
"transcript": "ENST00000591111.5",
"transcript_support_level": 5
},
{
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"aa_end": null,
"aa_length": 33423,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 101520,
"cdna_start": 85704,
"cds_end": null,
"cds_length": 100272,
"cds_start": 85478,
"consequences": [
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],
"exon_count": 312,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_133378.4",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.85478_85479delGTinsCG",
"hgvs_p": "p.Arg28493Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_596869.4",
"strand": false,
"transcript": "NM_133378.4",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 101520,
"cdna_start": 85704,
"cds_end": null,
"cds_length": 100272,
"cds_start": 85478,
"consequences": [
"missense_variant"
],
"exon_count": 312,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000342992.11",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.85478_85479delGTinsCG",
"hgvs_p": "p.Arg28493Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000343764.6",
"strand": false,
"transcript": "ENST00000342992.11",
"transcript_support_level": 5
},
{
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"aa_length": 27118,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 82605,
"cdna_start": 66789,
"cds_end": null,
"cds_length": 81357,
"cds_start": 66563,
"consequences": [
"missense_variant"
],
"exon_count": 192,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_133437.4",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.66563_66564delGTinsCG",
"hgvs_p": "p.Arg22188Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_597681.4",
"strand": false,
"transcript": "NM_133437.4",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 82380,
"cdna_start": 66564,
"cds_end": null,
"cds_length": 81357,
"cds_start": 66563,
"consequences": [
"missense_variant"
],
"exon_count": 191,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000342175.12",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.66563_66564delGTinsCG",
"hgvs_p": "p.Arg22188Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000340554.6",
"strand": false,
"transcript": "ENST00000342175.12",
"transcript_support_level": 5
},
{
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"aa_length": 27051,
"aa_ref": "R",
"aa_start": 22121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 82404,
"cdna_start": 66588,
"cds_end": null,
"cds_length": 81156,
"cds_start": 66362,
"consequences": [
"missense_variant"
],
"exon_count": 192,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_133432.3",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.66362_66363delGTinsCG",
"hgvs_p": "p.Arg22121Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_597676.3",
"strand": false,
"transcript": "NM_133432.3",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": 66363,
"cds_end": null,
"cds_length": 81156,
"cds_start": 66362,
"consequences": [
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],
"exon_count": 191,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000359218.11",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.66362_66363delGTinsCG",
"hgvs_p": "p.Arg22121Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000352154.5",
"strand": false,
"transcript": "ENST00000359218.11",
"transcript_support_level": 5
},
{
"aa_alt": "P",
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"aa_length": 26926,
"aa_ref": "R",
"aa_start": 21996,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 82029,
"cdna_start": 66213,
"cds_end": null,
"cds_length": 80781,
"cds_start": 65987,
"consequences": [
"missense_variant"
],
"exon_count": 191,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_003319.4",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.65987_65988delGTinsCG",
"hgvs_p": "p.Arg21996Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_003310.4",
"strand": false,
"transcript": "NM_003319.4",
"transcript_support_level": null
},
{
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"aa_ref": "R",
"aa_start": 21996,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 82029,
"cdna_start": 66213,
"cds_end": null,
"cds_length": 80781,
"cds_start": 65987,
"consequences": [
"missense_variant"
],
"exon_count": 191,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000460472.6",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.65987_65988delGTinsCG",
"hgvs_p": "p.Arg21996Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434586.1",
"strand": false,
"transcript": "ENST00000460472.6",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 35622,
"aa_ref": "R",
"aa_start": 30692,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 108117,
"cdna_start": 92301,
"cds_end": null,
"cds_length": 106869,
"cds_start": 92075,
"consequences": [
"missense_variant"
],
"exon_count": 359,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017004819.1",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.92075_92076delGTinsCG",
"hgvs_p": "p.Arg30692Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016860308.1",
"strand": false,
"transcript": "XM_017004819.1",
"transcript_support_level": null
},
{
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}