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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: 2-178633304-C-CT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178633304&ref=C&alt=CT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 178633304,
"ref": "C",
"alt": "CT",
"effect": "frameshift_variant",
"transcript": "ENST00000589042.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 233,
"exon_rank_end": null,
"exon_count": 363,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.42968dupA",
"hgvs_p": "p.Pro14324fs",
"transcript": "NM_001267550.2",
"protein_id": "NP_001254479.2",
"transcript_support_level": null,
"aa_start": 14323,
"aa_end": null,
"aa_length": 35991,
"cds_start": 42968,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 43193,
"cdna_end": null,
"cdna_length": 109224,
"mane_select": "ENST00000589042.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 233,
"exon_rank_end": null,
"exon_count": 363,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.42968dupA",
"hgvs_p": "p.Pro14324fs",
"transcript": "ENST00000589042.5",
"protein_id": "ENSP00000467141.1",
"transcript_support_level": 5,
"aa_start": 14323,
"aa_end": null,
"aa_length": 35991,
"cds_start": 42968,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 43193,
"cdna_end": null,
"cdna_length": 109224,
"mane_select": "NM_001267550.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 231,
"exon_rank_end": null,
"exon_count": 361,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.42812dupA",
"hgvs_p": "p.Pro14272fs",
"transcript": "ENST00000446966.2",
"protein_id": "ENSP00000408004.2",
"transcript_support_level": 1,
"aa_start": 14271,
"aa_end": null,
"aa_length": 35939,
"cds_start": 42812,
"cds_end": null,
"cds_length": 107820,
"cdna_start": 43037,
"cdna_end": null,
"cdna_length": 109068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 231,
"exon_rank_end": null,
"exon_count": 361,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.42692dupA",
"hgvs_p": "p.Pro14232fs",
"transcript": "ENST00000436599.2",
"protein_id": "ENSP00000405517.2",
"transcript_support_level": 1,
"aa_start": 14231,
"aa_end": null,
"aa_length": 35899,
"cds_start": 42692,
"cds_end": null,
"cds_length": 107700,
"cdna_start": 42917,
"cdna_end": null,
"cdna_length": 108948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 226,
"exon_rank_end": null,
"exon_count": 356,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.42410dupA",
"hgvs_p": "p.Pro14138fs",
"transcript": "ENST00000426232.6",
"protein_id": "ENSP00000392336.2",
"transcript_support_level": 1,
"aa_start": 14137,
"aa_end": null,
"aa_length": 35805,
"cds_start": 42410,
"cds_end": null,
"cds_length": 107418,
"cdna_start": 42635,
"cdna_end": null,
"cdna_length": 108666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 235,
"exon_rank_end": null,
"exon_count": 365,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.42968dupA",
"hgvs_p": "p.Pro14324fs",
"transcript": "ENST00000412264.2",
"protein_id": "ENSP00000394672.2",
"transcript_support_level": 3,
"aa_start": 14323,
"aa_end": null,
"aa_length": 35991,
"cds_start": 42968,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 43457,
"cdna_end": null,
"cdna_length": 109488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 232,
"exon_rank_end": null,
"exon_count": 362,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.42884dupA",
"hgvs_p": "p.Pro14296fs",
"transcript": "ENST00000425332.3",
"protein_id": "ENSP00000396805.3",
"transcript_support_level": 5,
"aa_start": 14295,
"aa_end": null,
"aa_length": 35963,
"cds_start": 42884,
"cds_end": null,
"cds_length": 107892,
"cdna_start": 43109,
"cdna_end": null,
"cdna_length": 109140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 230,
"exon_rank_end": null,
"exon_count": 360,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.42554dupA",
"hgvs_p": "p.Pro14186fs",
"transcript": "ENST00000715174.1",
"protein_id": "ENSP00000520370.1",
"transcript_support_level": null,
"aa_start": 14185,
"aa_end": null,
"aa_length": 35853,
"cds_start": 42554,
"cds_end": null,
"cds_length": 107562,
"cdna_start": 42779,
"cdna_end": null,
"cdna_length": 108810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 183,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.38045dupA",
"hgvs_p": "p.Pro12683fs",
"transcript": "NM_001256850.1",
"protein_id": "NP_001243779.1",
"transcript_support_level": null,
"aa_start": 12682,
"aa_end": null,
"aa_length": 34350,
"cds_start": 38045,
"cds_end": null,
"cds_length": 103053,
"cdna_start": 38270,
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"cdna_length": 104301,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 183,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.38045dupA",
"hgvs_p": "p.Pro12683fs",
"transcript": "ENST00000591111.5",
"protein_id": "ENSP00000465570.1",
"transcript_support_level": 5,
"aa_start": 12682,
"aa_end": null,
"aa_length": 34350,
"cds_start": 38045,
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"cds_length": 103053,
"cdna_start": 38270,
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"cdna_length": 104301,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 182,
"exon_rank_end": null,
"exon_count": 312,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.35264dupA",
"hgvs_p": "p.Pro11756fs",
"transcript": "NM_133378.4",
"protein_id": "NP_596869.4",
"transcript_support_level": null,
"aa_start": 11755,
"aa_end": null,
"aa_length": 33423,
"cds_start": 35264,
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"cdna_start": 35489,
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},
{
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"protein_coding": true,
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"frameshift_variant"
],
"exon_rank": 182,
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"exon_count": 312,
"intron_rank": null,
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"gene_symbol": "TTN",
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"hgvs_c": "c.35264dupA",
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"transcript": "ENST00000342992.11",
"protein_id": "ENSP00000343764.6",
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},
{
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"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 62,
"exon_rank_end": null,
"exon_count": 192,
"intron_rank": null,
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"gene_symbol": "TTN",
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"hgvs_c": "c.16349dupA",
"hgvs_p": "p.Pro5451fs",
"transcript": "NM_133437.4",
"protein_id": "NP_597681.4",
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"cds_start": 16349,
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},
{
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"strand": false,
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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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],
"exon_rank": 62,
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"exon_count": 192,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.16148dupA",
"hgvs_p": "p.Pro5384fs",
"transcript": "NM_133432.3",
"protein_id": "NP_597676.3",
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},
{
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"strand": false,
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],
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"gene_symbol": "TTN",
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"hgvs_c": "c.16148dupA",
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},
{
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"strand": false,
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],
"exon_rank": 61,
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"intron_rank": null,
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"gene_symbol": "TTN",
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"hgvs_c": "c.15773dupA",
"hgvs_p": "p.Pro5259fs",
"transcript": "NM_003319.4",
"protein_id": "NP_003310.4",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 61,
"exon_rank_end": null,
"exon_count": 191,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.15773dupA",
"hgvs_p": "p.Pro5259fs",
"transcript": "ENST00000460472.6",
"protein_id": "ENSP00000434586.1",
"transcript_support_level": 5,
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},
{
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"consequences": [
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],
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"gene_symbol": "TTN",
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"hgvs_c": "c.41861dupA",
"hgvs_p": "p.Pro13955fs",
"transcript": "XM_017004819.1",
"protein_id": "XP_016860308.1",
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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_p": "p.Pro12659fs",
"transcript": "XM_047445660.1",
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},
{
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],
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"gene_symbol": "TTN",
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"transcript": "XM_047445661.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 180,
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"exon_count": 310,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.37406dupA",
"hgvs_p": "p.Pro12470fs",
"transcript": "XM_024453095.1",
"protein_id": "XP_024308863.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
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"consequences": [
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],
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"exon_count": 336,
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},
{
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],
"exon_rank": null,
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},
{
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},
{
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},
{
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"downstream_gene_variant"
],
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"exon_count": 3,
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"gene_symbol": "TTN-AS1",
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"transcript": "ENST00000626954.2",
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"feature": null
}
],
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"dbsnp": "rs1553741321",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"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,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 6.066,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000589042.5",
"gene_symbol": "TTN",
"hgnc_id": 12403,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.42968dupA",
"hgvs_p": "p.Pro14324fs"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000653807.1",
"gene_symbol": "TTN-AS1",
"hgnc_id": 44124,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.415+32641dupT",
"hgvs_p": null
}
],
"clinvar_disease": "Primary dilated cardiomyopathy",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Primary dilated cardiomyopathy",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}