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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: 2-178634009-CACAA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178634009&ref=CACAA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 178634009,
"ref": "CACAA",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000589042.5",
"consequences": [
{
"aa_ref": "VC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 231,
"exon_rank_end": null,
"exon_count": 363,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.42486_42489delTTGT",
"hgvs_p": "p.Cys14163fs",
"transcript": "NM_001267550.2",
"protein_id": "NP_001254479.2",
"transcript_support_level": null,
"aa_start": 14162,
"aa_end": null,
"aa_length": 35991,
"cds_start": 42486,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 42714,
"cdna_end": null,
"cdna_length": 109224,
"mane_select": "ENST00000589042.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VC",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 231,
"exon_rank_end": null,
"exon_count": 363,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.42486_42489delTTGT",
"hgvs_p": "p.Cys14163fs",
"transcript": "ENST00000589042.5",
"protein_id": "ENSP00000467141.1",
"transcript_support_level": 5,
"aa_start": 14162,
"aa_end": null,
"aa_length": 35991,
"cds_start": 42486,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 42714,
"cdna_end": null,
"cdna_length": 109224,
"mane_select": "NM_001267550.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 229,
"exon_rank_end": null,
"exon_count": 361,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.42330_42333delTTGT",
"hgvs_p": "p.Cys14111fs",
"transcript": "ENST00000446966.2",
"protein_id": "ENSP00000408004.2",
"transcript_support_level": 1,
"aa_start": 14110,
"aa_end": null,
"aa_length": 35939,
"cds_start": 42330,
"cds_end": null,
"cds_length": 107820,
"cdna_start": 42558,
"cdna_end": null,
"cdna_length": 109068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 229,
"exon_rank_end": null,
"exon_count": 361,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.42210_42213delTTGT",
"hgvs_p": "p.Cys14071fs",
"transcript": "ENST00000436599.2",
"protein_id": "ENSP00000405517.2",
"transcript_support_level": 1,
"aa_start": 14070,
"aa_end": null,
"aa_length": 35899,
"cds_start": 42210,
"cds_end": null,
"cds_length": 107700,
"cdna_start": 42438,
"cdna_end": null,
"cdna_length": 108948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 224,
"exon_rank_end": null,
"exon_count": 356,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.41928_41931delTTGT",
"hgvs_p": "p.Cys13977fs",
"transcript": "ENST00000426232.6",
"protein_id": "ENSP00000392336.2",
"transcript_support_level": 1,
"aa_start": 13976,
"aa_end": null,
"aa_length": 35805,
"cds_start": 41928,
"cds_end": null,
"cds_length": 107418,
"cdna_start": 42156,
"cdna_end": null,
"cdna_length": 108666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 233,
"exon_rank_end": null,
"exon_count": 365,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.42486_42489delTTGT",
"hgvs_p": "p.Cys14163fs",
"transcript": "ENST00000412264.2",
"protein_id": "ENSP00000394672.2",
"transcript_support_level": 3,
"aa_start": 14162,
"aa_end": null,
"aa_length": 35991,
"cds_start": 42486,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 42978,
"cdna_end": null,
"cdna_length": 109488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 230,
"exon_rank_end": null,
"exon_count": 362,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.42402_42405delTTGT",
"hgvs_p": "p.Cys14135fs",
"transcript": "ENST00000425332.3",
"protein_id": "ENSP00000396805.3",
"transcript_support_level": 5,
"aa_start": 14134,
"aa_end": null,
"aa_length": 35963,
"cds_start": 42402,
"cds_end": null,
"cds_length": 107892,
"cdna_start": 42630,
"cdna_end": null,
"cdna_length": 109140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 228,
"exon_rank_end": null,
"exon_count": 360,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.42072_42075delTTGT",
"hgvs_p": "p.Cys14025fs",
"transcript": "ENST00000715174.1",
"protein_id": "ENSP00000520370.1",
"transcript_support_level": null,
"aa_start": 14024,
"aa_end": null,
"aa_length": 35853,
"cds_start": 42072,
"cds_end": null,
"cds_length": 107562,
"cdna_start": 42300,
"cdna_end": null,
"cdna_length": 108810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 181,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.37563_37566delTTGT",
"hgvs_p": "p.Cys12522fs",
"transcript": "NM_001256850.1",
"protein_id": "NP_001243779.1",
"transcript_support_level": null,
"aa_start": 12521,
"aa_end": null,
"aa_length": 34350,
"cds_start": 37563,
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"cds_length": 103053,
"cdna_start": 37791,
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"cdna_length": 104301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 181,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.37563_37566delTTGT",
"hgvs_p": "p.Cys12522fs",
"transcript": "ENST00000591111.5",
"protein_id": "ENSP00000465570.1",
"transcript_support_level": 5,
"aa_start": 12521,
"aa_end": null,
"aa_length": 34350,
"cds_start": 37563,
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"cds_length": 103053,
"cdna_start": 37791,
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"cdna_length": 104301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 180,
"exon_rank_end": null,
"exon_count": 312,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.34782_34785delTTGT",
"hgvs_p": "p.Cys11595fs",
"transcript": "NM_133378.4",
"protein_id": "NP_596869.4",
"transcript_support_level": null,
"aa_start": 11594,
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"aa_length": 33423,
"cds_start": 34782,
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"cdna_start": 35010,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 180,
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"exon_count": 312,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.34782_34785delTTGT",
"hgvs_p": "p.Cys11595fs",
"transcript": "ENST00000342992.11",
"protein_id": "ENSP00000343764.6",
"transcript_support_level": 5,
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"cds_start": 34782,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 60,
"exon_rank_end": null,
"exon_count": 192,
"intron_rank": null,
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"gene_symbol": "TTN",
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"hgvs_c": "c.15867_15870delTTGT",
"hgvs_p": "p.Cys5290fs",
"transcript": "NM_133437.4",
"protein_id": "NP_597681.4",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "TTN",
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"transcript": "ENST00000342175.12",
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},
{
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"consequences": [
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],
"exon_rank": 60,
"exon_rank_end": null,
"exon_count": 192,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.15666_15669delTTGT",
"hgvs_p": "p.Cys5223fs",
"transcript": "NM_133432.3",
"protein_id": "NP_597676.3",
"transcript_support_level": null,
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "TTN",
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"hgvs_c": "c.15666_15669delTTGT",
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"transcript": "ENST00000359218.11",
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},
{
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],
"exon_rank": 59,
"exon_rank_end": null,
"exon_count": 191,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.15291_15294delTTGT",
"hgvs_p": "p.Cys5098fs",
"transcript": "NM_003319.4",
"protein_id": "NP_003310.4",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 59,
"exon_rank_end": null,
"exon_count": 191,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.15291_15294delTTGT",
"hgvs_p": "p.Cys5098fs",
"transcript": "ENST00000460472.6",
"protein_id": "ENSP00000434586.1",
"transcript_support_level": 5,
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},
{
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],
"exon_rank": 227,
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"exon_count": 359,
"intron_rank": null,
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"gene_symbol": "TTN",
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"hgvs_c": "c.41379_41382delTTGT",
"hgvs_p": "p.Cys13794fs",
"transcript": "XM_017004819.1",
"protein_id": "XP_016860308.1",
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},
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"consequences": [
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],
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"exon_rank_end": null,
"exon_count": 317,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.37491_37494delTTGT",
"hgvs_p": "p.Cys12498fs",
"transcript": "XM_047445660.1",
"protein_id": "XP_047301616.1",
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},
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"consequences": [
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],
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"exon_count": 313,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.37155_37158delTTGT",
"hgvs_p": "p.Cys12386fs",
"transcript": "XM_047445661.1",
"protein_id": "XP_047301617.1",
"transcript_support_level": null,
"aa_start": 12385,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 178,
"exon_rank_end": null,
"exon_count": 310,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.36924_36927delTTGT",
"hgvs_p": "p.Cys12309fs",
"transcript": "XM_024453095.1",
"protein_id": "XP_024308863.1",
"transcript_support_level": null,
"aa_start": 12308,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
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}
],
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"dbsnp": "rs797046064",
"frequency_reference_population": 6.8438305e-7,
"hom_count_reference_population": 0,
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"gnomad_exomes_af": 6.84383e-7,
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"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
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"bayesdelnoaf_score": null,
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"phylop100way_score": 6.75,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
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"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
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"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000589042.5",
"gene_symbol": "TTN",
"hgnc_id": 12403,
"effects": [
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],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.42486_42489delTTGT",
"hgvs_p": "p.Cys14163fs"
},
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
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"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000653807.1",
"gene_symbol": "TTN-AS1",
"hgnc_id": 44124,
"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.415+33348_415+33351delCAAA",
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}
],
"clinvar_disease": "Autosomal recessive limb-girdle muscular dystrophy type 2J,Cardiomyopathy,Cardiovascular phenotype,Dilated cardiomyopathy 1G,Myopathy",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:4",
"phenotype_combined": "Myopathy|Cardiomyopathy|Cardiovascular phenotype|Dilated cardiomyopathy 1G;Autosomal recessive limb-girdle muscular dystrophy type 2J",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}