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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: 2-178572745-CCC-GG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178572745&ref=CCC&alt=GG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 178572745,
"ref": "CCC",
"alt": "GG",
"effect": "frameshift_variant,missense_variant",
"transcript": "ENST00000589042.5",
"consequences": [
{
"aa_ref": "WA",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 326,
"exon_rank_end": null,
"exon_count": 363,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.73385_73387delGGGinsCC",
"hgvs_p": "p.Trp24462fs",
"transcript": "NM_001267550.2",
"protein_id": "NP_001254479.2",
"transcript_support_level": null,
"aa_start": 24462,
"aa_end": null,
"aa_length": 35991,
"cds_start": 73385,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 73612,
"cdna_end": null,
"cdna_length": 109224,
"mane_select": "ENST00000589042.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "WA",
"aa_alt": "S?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 326,
"exon_rank_end": null,
"exon_count": 363,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.73385_73387delGGGinsCC",
"hgvs_p": "p.Trp24462fs",
"transcript": "ENST00000589042.5",
"protein_id": "ENSP00000467141.1",
"transcript_support_level": 5,
"aa_start": 24462,
"aa_end": null,
"aa_length": 35991,
"cds_start": 73385,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 73612,
"cdna_end": null,
"cdna_length": 109224,
"mane_select": "NM_001267550.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "WA",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 324,
"exon_rank_end": null,
"exon_count": 361,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.73229_73231delGGGinsCC",
"hgvs_p": "p.Trp24410fs",
"transcript": "ENST00000446966.2",
"protein_id": "ENSP00000408004.2",
"transcript_support_level": 1,
"aa_start": 24410,
"aa_end": null,
"aa_length": 35939,
"cds_start": 73229,
"cds_end": null,
"cds_length": 107820,
"cdna_start": 73456,
"cdna_end": null,
"cdna_length": 109068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "WA",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 324,
"exon_rank_end": null,
"exon_count": 361,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.73109_73111delGGGinsCC",
"hgvs_p": "p.Trp24370fs",
"transcript": "ENST00000436599.2",
"protein_id": "ENSP00000405517.2",
"transcript_support_level": 1,
"aa_start": 24370,
"aa_end": null,
"aa_length": 35899,
"cds_start": 73109,
"cds_end": null,
"cds_length": 107700,
"cdna_start": 73336,
"cdna_end": null,
"cdna_length": 108948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "WA",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 319,
"exon_rank_end": null,
"exon_count": 356,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.72827_72829delGGGinsCC",
"hgvs_p": "p.Trp24276fs",
"transcript": "ENST00000426232.6",
"protein_id": "ENSP00000392336.2",
"transcript_support_level": 1,
"aa_start": 24276,
"aa_end": null,
"aa_length": 35805,
"cds_start": 72827,
"cds_end": null,
"cds_length": 107418,
"cdna_start": 73054,
"cdna_end": null,
"cdna_length": 108666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TTN-AS1",
"gene_hgnc_id": 44124,
"hgvs_c": "n.2044-9827_2044-9825delCCCinsGG",
"hgvs_p": null,
"transcript": "ENST00000419746.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "WA",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 328,
"exon_rank_end": null,
"exon_count": 365,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.73385_73387delGGGinsCC",
"hgvs_p": "p.Trp24462fs",
"transcript": "ENST00000412264.2",
"protein_id": "ENSP00000394672.2",
"transcript_support_level": 3,
"aa_start": 24462,
"aa_end": null,
"aa_length": 35991,
"cds_start": 73385,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 73876,
"cdna_end": null,
"cdna_length": 109488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "WA",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 325,
"exon_rank_end": null,
"exon_count": 362,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.73301_73303delGGGinsCC",
"hgvs_p": "p.Trp24434fs",
"transcript": "ENST00000425332.3",
"protein_id": "ENSP00000396805.3",
"transcript_support_level": 5,
"aa_start": 24434,
"aa_end": null,
"aa_length": 35963,
"cds_start": 73301,
"cds_end": null,
"cds_length": 107892,
"cdna_start": 73528,
"cdna_end": null,
"cdna_length": 109140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "WA",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 323,
"exon_rank_end": null,
"exon_count": 360,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.72971_72973delGGGinsCC",
"hgvs_p": "p.Trp24324fs",
"transcript": "ENST00000715174.1",
"protein_id": "ENSP00000520370.1",
"transcript_support_level": null,
"aa_start": 24324,
"aa_end": null,
"aa_length": 35853,
"cds_start": 72971,
"cds_end": null,
"cds_length": 107562,
"cdna_start": 73198,
"cdna_end": null,
"cdna_length": 108810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "WA",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 276,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.68462_68464delGGGinsCC",
"hgvs_p": "p.Trp22821fs",
"transcript": "NM_001256850.1",
"protein_id": "NP_001243779.1",
"transcript_support_level": null,
"aa_start": 22821,
"aa_end": null,
"aa_length": 34350,
"cds_start": 68462,
"cds_end": null,
"cds_length": 103053,
"cdna_start": 68689,
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"cdna_length": 104301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "WA",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 276,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.68462_68464delGGGinsCC",
"hgvs_p": "p.Trp22821fs",
"transcript": "ENST00000591111.5",
"protein_id": "ENSP00000465570.1",
"transcript_support_level": 5,
"aa_start": 22821,
"aa_end": null,
"aa_length": 34350,
"cds_start": 68462,
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"feature": null
},
{
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"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 275,
"exon_rank_end": null,
"exon_count": 312,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.65681_65683delGGGinsCC",
"hgvs_p": "p.Trp21894fs",
"transcript": "NM_133378.4",
"protein_id": "NP_596869.4",
"transcript_support_level": null,
"aa_start": 21894,
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"aa_length": 33423,
"cds_start": 65681,
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"cds_length": 100272,
"cdna_start": 65908,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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"missense_variant"
],
"exon_rank": 275,
"exon_rank_end": null,
"exon_count": 312,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.65681_65683delGGGinsCC",
"hgvs_p": "p.Trp21894fs",
"transcript": "ENST00000342992.11",
"protein_id": "ENSP00000343764.6",
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},
{
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"protein_coding": true,
"strand": false,
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"missense_variant"
],
"exon_rank": 155,
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"exon_count": 192,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.46766_46768delGGGinsCC",
"hgvs_p": "p.Trp15589fs",
"transcript": "NM_133437.4",
"protein_id": "NP_597681.4",
"transcript_support_level": null,
"aa_start": 15589,
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"aa_length": 27118,
"cds_start": 46766,
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"cdna_start": 46993,
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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"missense_variant"
],
"exon_rank": 154,
"exon_rank_end": null,
"exon_count": 191,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.46766_46768delGGGinsCC",
"hgvs_p": "p.Trp15589fs",
"transcript": "ENST00000342175.12",
"protein_id": "ENSP00000340554.6",
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},
{
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"strand": false,
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"missense_variant"
],
"exon_rank": 155,
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"exon_count": 192,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.46565_46567delGGGinsCC",
"hgvs_p": "p.Trp15522fs",
"transcript": "NM_133432.3",
"protein_id": "NP_597676.3",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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"missense_variant"
],
"exon_rank": 154,
"exon_rank_end": null,
"exon_count": 191,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.46565_46567delGGGinsCC",
"hgvs_p": "p.Trp15522fs",
"transcript": "ENST00000359218.11",
"protein_id": "ENSP00000352154.5",
"transcript_support_level": 5,
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},
{
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"strand": false,
"consequences": [
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"missense_variant"
],
"exon_rank": 154,
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"intron_rank": null,
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"gene_symbol": "TTN",
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"hgvs_c": "c.46190_46192delGGGinsCC",
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"transcript": "NM_003319.4",
"protein_id": "NP_003310.4",
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},
{
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"missense_variant"
],
"exon_rank": 154,
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"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.46190_46192delGGGinsCC",
"hgvs_p": "p.Trp15397fs",
"transcript": "ENST00000460472.6",
"protein_id": "ENSP00000434586.1",
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},
{
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"consequences": [
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"missense_variant"
],
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"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "TTN",
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"hgvs_c": "c.72278_72280delGGGinsCC",
"hgvs_p": "p.Trp24093fs",
"transcript": "XM_017004819.1",
"protein_id": "XP_016860308.1",
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"cdna_start": 72505,
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"feature": null
},
{
"aa_ref": "WA",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 280,
"exon_rank_end": null,
"exon_count": 317,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.68390_68392delGGGinsCC",
"hgvs_p": "p.Trp22797fs",
"transcript": "XM_047445660.1",
"protein_id": "XP_047301616.1",
"transcript_support_level": null,
"aa_start": 22797,
"aa_end": null,
"aa_length": 34326,
"cds_start": 68390,
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"cdna_start": 68617,
"cdna_end": null,
"cdna_length": 104229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 276,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
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"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.858,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PM2"
],
"verdict": "Pathogenic",
"transcript": "ENST00000589042.5",
"gene_symbol": "TTN",
"hgnc_id": 12403,
"effects": [
"frameshift_variant",
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.73385_73387delGGGinsCC",
"hgvs_p": "p.Trp24462fs"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000419746.5",
"gene_symbol": "TTN-AS1",
"hgnc_id": 44124,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.2044-9827_2044-9825delCCCinsGG",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}