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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: 2-178632589-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178632589&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 178632589,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000589042.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 235,
"exon_rank_end": null,
"exon_count": 363,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.43417G>C",
"hgvs_p": "p.Asp14473His",
"transcript": "NM_001267550.2",
"protein_id": "NP_001254479.2",
"transcript_support_level": null,
"aa_start": 14473,
"aa_end": null,
"aa_length": 35991,
"cds_start": 43417,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 43642,
"cdna_end": null,
"cdna_length": 109224,
"mane_select": "ENST00000589042.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 235,
"exon_rank_end": null,
"exon_count": 363,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.43417G>C",
"hgvs_p": "p.Asp14473His",
"transcript": "ENST00000589042.5",
"protein_id": "ENSP00000467141.1",
"transcript_support_level": 5,
"aa_start": 14473,
"aa_end": null,
"aa_length": 35991,
"cds_start": 43417,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 43642,
"cdna_end": null,
"cdna_length": 109224,
"mane_select": "NM_001267550.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 233,
"exon_rank_end": null,
"exon_count": 361,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.43261G>C",
"hgvs_p": "p.Asp14421His",
"transcript": "ENST00000446966.2",
"protein_id": "ENSP00000408004.2",
"transcript_support_level": 1,
"aa_start": 14421,
"aa_end": null,
"aa_length": 35939,
"cds_start": 43261,
"cds_end": null,
"cds_length": 107820,
"cdna_start": 43486,
"cdna_end": null,
"cdna_length": 109068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 233,
"exon_rank_end": null,
"exon_count": 361,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.43141G>C",
"hgvs_p": "p.Asp14381His",
"transcript": "ENST00000436599.2",
"protein_id": "ENSP00000405517.2",
"transcript_support_level": 1,
"aa_start": 14381,
"aa_end": null,
"aa_length": 35899,
"cds_start": 43141,
"cds_end": null,
"cds_length": 107700,
"cdna_start": 43366,
"cdna_end": null,
"cdna_length": 108948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 228,
"exon_rank_end": null,
"exon_count": 356,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.42859G>C",
"hgvs_p": "p.Asp14287His",
"transcript": "ENST00000426232.6",
"protein_id": "ENSP00000392336.2",
"transcript_support_level": 1,
"aa_start": 14287,
"aa_end": null,
"aa_length": 35805,
"cds_start": 42859,
"cds_end": null,
"cds_length": 107418,
"cdna_start": 43084,
"cdna_end": null,
"cdna_length": 108666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 237,
"exon_rank_end": null,
"exon_count": 365,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.43417G>C",
"hgvs_p": "p.Asp14473His",
"transcript": "ENST00000412264.2",
"protein_id": "ENSP00000394672.2",
"transcript_support_level": 3,
"aa_start": 14473,
"aa_end": null,
"aa_length": 35991,
"cds_start": 43417,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 43906,
"cdna_end": null,
"cdna_length": 109488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 234,
"exon_rank_end": null,
"exon_count": 362,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.43333G>C",
"hgvs_p": "p.Asp14445His",
"transcript": "ENST00000425332.3",
"protein_id": "ENSP00000396805.3",
"transcript_support_level": 5,
"aa_start": 14445,
"aa_end": null,
"aa_length": 35963,
"cds_start": 43333,
"cds_end": null,
"cds_length": 107892,
"cdna_start": 43558,
"cdna_end": null,
"cdna_length": 109140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 232,
"exon_rank_end": null,
"exon_count": 360,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.43003G>C",
"hgvs_p": "p.Asp14335His",
"transcript": "ENST00000715174.1",
"protein_id": "ENSP00000520370.1",
"transcript_support_level": null,
"aa_start": 14335,
"aa_end": null,
"aa_length": 35853,
"cds_start": 43003,
"cds_end": null,
"cds_length": 107562,
"cdna_start": 43228,
"cdna_end": null,
"cdna_length": 108810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 185,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.38494G>C",
"hgvs_p": "p.Asp12832His",
"transcript": "NM_001256850.1",
"protein_id": "NP_001243779.1",
"transcript_support_level": null,
"aa_start": 12832,
"aa_end": null,
"aa_length": 34350,
"cds_start": 38494,
"cds_end": null,
"cds_length": 103053,
"cdna_start": 38719,
"cdna_end": null,
"cdna_length": 104301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 185,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.38494G>C",
"hgvs_p": "p.Asp12832His",
"transcript": "ENST00000591111.5",
"protein_id": "ENSP00000465570.1",
"transcript_support_level": 5,
"aa_start": 12832,
"aa_end": null,
"aa_length": 34350,
"cds_start": 38494,
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"cds_length": 103053,
"cdna_start": 38719,
"cdna_end": null,
"cdna_length": 104301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 184,
"exon_rank_end": null,
"exon_count": 312,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.35713G>C",
"hgvs_p": "p.Asp11905His",
"transcript": "NM_133378.4",
"protein_id": "NP_596869.4",
"transcript_support_level": null,
"aa_start": 11905,
"aa_end": null,
"aa_length": 33423,
"cds_start": 35713,
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"cds_length": 100272,
"cdna_start": 35938,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 184,
"exon_rank_end": null,
"exon_count": 312,
"intron_rank": null,
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"gene_symbol": "TTN",
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"hgvs_c": "c.35713G>C",
"hgvs_p": "p.Asp11905His",
"transcript": "ENST00000342992.11",
"protein_id": "ENSP00000343764.6",
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"aa_start": 11905,
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"cds_start": 35713,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 64,
"exon_rank_end": null,
"exon_count": 192,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.16798G>C",
"hgvs_p": "p.Asp5600His",
"transcript": "NM_133437.4",
"protein_id": "NP_597681.4",
"transcript_support_level": null,
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"aa_length": 27118,
"cds_start": 16798,
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"cdna_start": 17023,
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},
{
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],
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"exon_count": 191,
"intron_rank": null,
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"gene_symbol": "TTN",
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"hgvs_c": "c.16798G>C",
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"transcript": "ENST00000342175.12",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 64,
"exon_rank_end": null,
"exon_count": 192,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.16597G>C",
"hgvs_p": "p.Asp5533His",
"transcript": "NM_133432.3",
"protein_id": "NP_597676.3",
"transcript_support_level": null,
"aa_start": 5533,
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},
{
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],
"exon_rank": 63,
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"exon_count": 191,
"intron_rank": null,
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"gene_symbol": "TTN",
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"hgvs_c": "c.16597G>C",
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"transcript": "ENST00000359218.11",
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},
{
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"consequences": [
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],
"exon_rank": 63,
"exon_rank_end": null,
"exon_count": 191,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.16222G>C",
"hgvs_p": "p.Asp5408His",
"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": 63,
"exon_rank_end": null,
"exon_count": 191,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.16222G>C",
"hgvs_p": "p.Asp5408His",
"transcript": "ENST00000460472.6",
"protein_id": "ENSP00000434586.1",
"transcript_support_level": 5,
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},
{
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],
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"gene_symbol": "TTN",
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"hgvs_c": "c.42310G>C",
"hgvs_p": "p.Asp14104His",
"transcript": "XM_017004819.1",
"protein_id": "XP_016860308.1",
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},
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"strand": false,
"consequences": [
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],
"exon_rank": 189,
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"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.38422G>C",
"hgvs_p": "p.Asp12808His",
"transcript": "XM_047445660.1",
"protein_id": "XP_047301616.1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.38086G>C",
"hgvs_p": "p.Asp12696His",
"transcript": "XM_047445661.1",
"protein_id": "XP_047301617.1",
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"aa_start": 12696,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 182,
"exon_rank_end": null,
"exon_count": 310,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.37855G>C",
"hgvs_p": "p.Asp12619His",
"transcript": "XM_024453095.1",
"protein_id": "XP_024308863.1",
"transcript_support_level": null,
"aa_start": 12619,
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"aa_length": 34137,
"cds_start": 37855,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 208,
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"exon_count": 336,
"intron_rank": null,
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],
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"computational_score_selected": 0.08068403601646423,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.649,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8788,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.858,
"phylop100way_prediction": "Pathogenic",
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BP6",
"acmg_by_gene": [
{
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"pathogenic_score": 0,
"criteria": [
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"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000589042.5",
"gene_symbol": "TTN",
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"effects": [
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],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.43417G>C",
"hgvs_p": "p.Asp14473His"
},
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6"
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"verdict": "Likely_benign",
"transcript": "ENST00000626954.2",
"gene_symbol": "TTN-AS1",
"hgnc_id": 44124,
"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.375C>G",
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}
],
"clinvar_disease": "Autosomal recessive limb-girdle muscular dystrophy type 2J,Cardiomyopathy,Cardiovascular phenotype,Dilated cardiomyopathy 1G,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:2 B:2",
"phenotype_combined": "not specified|Cardiovascular phenotype|not provided|Dilated cardiomyopathy 1G;Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiomyopathy",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}