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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: 2-178565273-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178565273&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Strong",
"BP6",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "TTN",
"hgnc_id": 12403,
"hgvs_c": "c.80859G>A",
"hgvs_p": "p.Thr26953Thr",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_001267550.2",
"verdict": "Likely_benign"
},
{
"benign_score": 9,
"criteria": [
"BP4_Strong",
"BP6",
"BS1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "TTN-AS1",
"hgnc_id": 44124,
"hgvs_c": "n.2044-17299C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -9,
"transcript": "ENST00000419746.5",
"verdict": "Benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6,BP7",
"acmg_score": -6,
"allele_count_reference_population": 78,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"chr": "2",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Autosomal recessive limb-girdle muscular dystrophy type 2J,Cardiovascular phenotype,Dilated cardiomyopathy 1G,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1 B:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5199999809265137,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 35991,
"aa_ref": "T",
"aa_start": 26953,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 109224,
"cdna_start": 81084,
"cds_end": null,
"cds_length": 107976,
"cds_start": 80859,
"consequences": [
"synonymous_variant"
],
"exon_count": 363,
"exon_rank": 326,
"exon_rank_end": null,
"feature": "NM_001267550.2",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.80859G>A",
"hgvs_p": "p.Thr26953Thr",
"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": "T",
"aa_end": null,
"aa_length": 35991,
"aa_ref": "T",
"aa_start": 26953,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 109224,
"cdna_start": 81084,
"cds_end": null,
"cds_length": 107976,
"cds_start": 80859,
"consequences": [
"synonymous_variant"
],
"exon_count": 363,
"exon_rank": 326,
"exon_rank_end": null,
"feature": "ENST00000589042.5",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.80859G>A",
"hgvs_p": "p.Thr26953Thr",
"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": "T",
"aa_end": null,
"aa_length": 35939,
"aa_ref": "T",
"aa_start": 26901,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 109068,
"cdna_start": 80928,
"cds_end": null,
"cds_length": 107820,
"cds_start": 80703,
"consequences": [
"synonymous_variant"
],
"exon_count": 361,
"exon_rank": 324,
"exon_rank_end": null,
"feature": "ENST00000446966.2",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.80703G>A",
"hgvs_p": "p.Thr26901Thr",
"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": "T",
"aa_end": null,
"aa_length": 35899,
"aa_ref": "T",
"aa_start": 26861,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 108948,
"cdna_start": 80808,
"cds_end": null,
"cds_length": 107700,
"cds_start": 80583,
"consequences": [
"synonymous_variant"
],
"exon_count": 361,
"exon_rank": 324,
"exon_rank_end": null,
"feature": "ENST00000436599.2",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.80583G>A",
"hgvs_p": "p.Thr26861Thr",
"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": "T",
"aa_end": null,
"aa_length": 35805,
"aa_ref": "T",
"aa_start": 26767,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 108666,
"cdna_start": 80526,
"cds_end": null,
"cds_length": 107418,
"cds_start": 80301,
"consequences": [
"synonymous_variant"
],
"exon_count": 356,
"exon_rank": 319,
"exon_rank_end": null,
"feature": "ENST00000426232.6",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.80301G>A",
"hgvs_p": "p.Thr26767Thr",
"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.2044-17299C>T",
"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": "T",
"aa_end": null,
"aa_length": 35991,
"aa_ref": "T",
"aa_start": 26953,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 109488,
"cdna_start": 81348,
"cds_end": null,
"cds_length": 107976,
"cds_start": 80859,
"consequences": [
"synonymous_variant"
],
"exon_count": 365,
"exon_rank": 328,
"exon_rank_end": null,
"feature": "ENST00000412264.2",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.80859G>A",
"hgvs_p": "p.Thr26953Thr",
"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": "T",
"aa_end": null,
"aa_length": 35963,
"aa_ref": "T",
"aa_start": 26925,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 109140,
"cdna_start": 81000,
"cds_end": null,
"cds_length": 107892,
"cds_start": 80775,
"consequences": [
"synonymous_variant"
],
"exon_count": 362,
"exon_rank": 325,
"exon_rank_end": null,
"feature": "ENST00000425332.3",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.80775G>A",
"hgvs_p": "p.Thr26925Thr",
"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": "T",
"aa_end": null,
"aa_length": 35853,
"aa_ref": "T",
"aa_start": 26815,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 108810,
"cdna_start": 80670,
"cds_end": null,
"cds_length": 107562,
"cds_start": 80445,
"consequences": [
"synonymous_variant"
],
"exon_count": 360,
"exon_rank": 323,
"exon_rank_end": null,
"feature": "ENST00000715174.1",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.80445G>A",
"hgvs_p": "p.Thr26815Thr",
"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": "T",
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"aa_length": 34350,
"aa_ref": "T",
"aa_start": 25312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 104301,
"cdna_start": 76161,
"cds_end": null,
"cds_length": 103053,
"cds_start": 75936,
"consequences": [
"synonymous_variant"
],
"exon_count": 313,
"exon_rank": 276,
"exon_rank_end": null,
"feature": "NM_001256850.1",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.75936G>A",
"hgvs_p": "p.Thr25312Thr",
"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
},
{
"aa_alt": "T",
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"aa_length": 34350,
"aa_ref": "T",
"aa_start": 25312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 104301,
"cdna_start": 76161,
"cds_end": null,
"cds_length": 103053,
"cds_start": 75936,
"consequences": [
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],
"exon_count": 313,
"exon_rank": 276,
"exon_rank_end": null,
"feature": "ENST00000591111.5",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.75936G>A",
"hgvs_p": "p.Thr25312Thr",
"intron_rank": null,
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"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_length": 33423,
"aa_ref": "T",
"aa_start": 24385,
"biotype": "protein_coding",
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"cdna_start": 73380,
"cds_end": null,
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"consequences": [
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],
"exon_count": 312,
"exon_rank": 275,
"exon_rank_end": null,
"feature": "NM_133378.4",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.73155G>A",
"hgvs_p": "p.Thr24385Thr",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_596869.4",
"strand": false,
"transcript": "NM_133378.4",
"transcript_support_level": null
},
{
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"aa_length": 33423,
"aa_ref": "T",
"aa_start": 24385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 101520,
"cdna_start": 73380,
"cds_end": null,
"cds_length": 100272,
"cds_start": 73155,
"consequences": [
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],
"exon_count": 312,
"exon_rank": 275,
"exon_rank_end": null,
"feature": "ENST00000342992.11",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.73155G>A",
"hgvs_p": "p.Thr24385Thr",
"intron_rank": null,
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"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_ref": "T",
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"cdna_start": 54465,
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"consequences": [
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],
"exon_count": 192,
"exon_rank": 155,
"exon_rank_end": null,
"feature": "NM_133437.4",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.54240G>A",
"hgvs_p": "p.Thr18080Thr",
"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
},
{
"aa_alt": "T",
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"aa_length": 27118,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 82380,
"cdna_start": 54240,
"cds_end": null,
"cds_length": 81357,
"cds_start": 54240,
"consequences": [
"synonymous_variant"
],
"exon_count": 191,
"exon_rank": 154,
"exon_rank_end": null,
"feature": "ENST00000342175.12",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.54240G>A",
"hgvs_p": "p.Thr18080Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000340554.6",
"strand": false,
"transcript": "ENST00000342175.12",
"transcript_support_level": 5
},
{
"aa_alt": "T",
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"aa_length": 27051,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 82404,
"cdna_start": 54264,
"cds_end": null,
"cds_length": 81156,
"cds_start": 54039,
"consequences": [
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],
"exon_count": 192,
"exon_rank": 155,
"exon_rank_end": null,
"feature": "NM_133432.3",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.54039G>A",
"hgvs_p": "p.Thr18013Thr",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_597676.3",
"strand": false,
"transcript": "NM_133432.3",
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},
{
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"aa_ref": "T",
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"consequences": [
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],
"exon_count": 191,
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"feature": "ENST00000359218.11",
"gene_hgnc_id": 12403,
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"hgvs_p": "p.Thr18013Thr",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000352154.5",
"strand": false,
"transcript": "ENST00000359218.11",
"transcript_support_level": 5
},
{
"aa_alt": "T",
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"aa_length": 26926,
"aa_ref": "T",
"aa_start": 17888,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 82029,
"cdna_start": 53889,
"cds_end": null,
"cds_length": 80781,
"cds_start": 53664,
"consequences": [
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],
"exon_count": 191,
"exon_rank": 154,
"exon_rank_end": null,
"feature": "NM_003319.4",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.53664G>A",
"hgvs_p": "p.Thr17888Thr",
"intron_rank": null,
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"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_length": 26926,
"aa_ref": "T",
"aa_start": 17888,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 82029,
"cdna_start": 53889,
"cds_end": null,
"cds_length": 80781,
"cds_start": 53664,
"consequences": [
"synonymous_variant"
],
"exon_count": 191,
"exon_rank": 154,
"exon_rank_end": null,
"feature": "ENST00000460472.6",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.53664G>A",
"hgvs_p": "p.Thr17888Thr",
"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": "T",
"aa_end": null,
"aa_length": 35622,
"aa_ref": "T",
"aa_start": 26584,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 108117,
"cdna_start": 79977,
"cds_end": null,
"cds_length": 106869,
"cds_start": 79752,
"consequences": [
"synonymous_variant"
],
"exon_count": 359,
"exon_rank": 322,
"exon_rank_end": null,
"feature": "XM_017004819.1",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.79752G>A",
"hgvs_p": "p.Thr26584Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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{
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],
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"phenotype_combined": "not specified|not provided|Dilated cardiomyopathy 1G;Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiovascular phenotype",
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}
]
}