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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: 2-178615706-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178615706&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 3,
"criteria": [
"BP4_Moderate",
"BP6"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TTN",
"hgnc_id": 12403,
"hgvs_c": "c.48395G>A",
"hgvs_p": "p.Arg16132His",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -3,
"transcript": "NM_001267550.2",
"verdict": "Likely_benign"
},
{
"benign_score": 7,
"criteria": [
"BP4_Moderate",
"BP6",
"BS1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "TTN-AS1",
"hgnc_id": 44124,
"hgvs_c": "n.1571+332C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -7,
"transcript": "ENST00000456053.5",
"verdict": "Benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BP6",
"acmg_score": -3,
"allele_count_reference_population": 84,
"alphamissense_prediction": null,
"alphamissense_score": 0.1436,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.3,
"chr": "2",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Cardiomyopathy,Cardiovascular phenotype,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:5 LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.19967836141586304,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 35991,
"aa_ref": "R",
"aa_start": 16132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 109224,
"cdna_start": 48620,
"cds_end": null,
"cds_length": 107976,
"cds_start": 48395,
"consequences": [
"missense_variant"
],
"exon_count": 363,
"exon_rank": 258,
"exon_rank_end": null,
"feature": "NM_001267550.2",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.48395G>A",
"hgvs_p": "p.Arg16132His",
"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": "H",
"aa_end": null,
"aa_length": 35991,
"aa_ref": "R",
"aa_start": 16132,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 109224,
"cdna_start": 48620,
"cds_end": null,
"cds_length": 107976,
"cds_start": 48395,
"consequences": [
"missense_variant"
],
"exon_count": 363,
"exon_rank": 258,
"exon_rank_end": null,
"feature": "ENST00000589042.5",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.48395G>A",
"hgvs_p": "p.Arg16132His",
"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": "H",
"aa_end": null,
"aa_length": 35939,
"aa_ref": "R",
"aa_start": 16080,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 109068,
"cdna_start": 48464,
"cds_end": null,
"cds_length": 107820,
"cds_start": 48239,
"consequences": [
"missense_variant"
],
"exon_count": 361,
"exon_rank": 256,
"exon_rank_end": null,
"feature": "ENST00000446966.2",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.48239G>A",
"hgvs_p": "p.Arg16080His",
"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": "H",
"aa_end": null,
"aa_length": 35899,
"aa_ref": "R",
"aa_start": 16040,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 108948,
"cdna_start": 48344,
"cds_end": null,
"cds_length": 107700,
"cds_start": 48119,
"consequences": [
"missense_variant"
],
"exon_count": 361,
"exon_rank": 256,
"exon_rank_end": null,
"feature": "ENST00000436599.2",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.48119G>A",
"hgvs_p": "p.Arg16040His",
"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": "H",
"aa_end": null,
"aa_length": 35805,
"aa_ref": "R",
"aa_start": 15946,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 108666,
"cdna_start": 48062,
"cds_end": null,
"cds_length": 107418,
"cds_start": 47837,
"consequences": [
"missense_variant"
],
"exon_count": 356,
"exon_rank": 251,
"exon_rank_end": null,
"feature": "ENST00000426232.6",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.47837G>A",
"hgvs_p": "p.Arg15946His",
"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": "H",
"aa_end": null,
"aa_length": 35991,
"aa_ref": "R",
"aa_start": 16132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 109488,
"cdna_start": 48884,
"cds_end": null,
"cds_length": 107976,
"cds_start": 48395,
"consequences": [
"missense_variant"
],
"exon_count": 365,
"exon_rank": 260,
"exon_rank_end": null,
"feature": "ENST00000412264.2",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.48395G>A",
"hgvs_p": "p.Arg16132His",
"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": "H",
"aa_end": null,
"aa_length": 35963,
"aa_ref": "R",
"aa_start": 16104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 109140,
"cdna_start": 48536,
"cds_end": null,
"cds_length": 107892,
"cds_start": 48311,
"consequences": [
"missense_variant"
],
"exon_count": 362,
"exon_rank": 257,
"exon_rank_end": null,
"feature": "ENST00000425332.3",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.48311G>A",
"hgvs_p": "p.Arg16104His",
"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": "H",
"aa_end": null,
"aa_length": 35853,
"aa_ref": "R",
"aa_start": 15994,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 108810,
"cdna_start": 48206,
"cds_end": null,
"cds_length": 107562,
"cds_start": 47981,
"consequences": [
"missense_variant"
],
"exon_count": 360,
"exon_rank": 255,
"exon_rank_end": null,
"feature": "ENST00000715174.1",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.47981G>A",
"hgvs_p": "p.Arg15994His",
"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": "H",
"aa_end": null,
"aa_length": 34350,
"aa_ref": "R",
"aa_start": 14491,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 104301,
"cdna_start": 43697,
"cds_end": null,
"cds_length": 103053,
"cds_start": 43472,
"consequences": [
"missense_variant"
],
"exon_count": 313,
"exon_rank": 208,
"exon_rank_end": null,
"feature": "NM_001256850.1",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.43472G>A",
"hgvs_p": "p.Arg14491His",
"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
},
{
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"aa_length": 34350,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 104301,
"cdna_start": 43697,
"cds_end": null,
"cds_length": 103053,
"cds_start": 43472,
"consequences": [
"missense_variant"
],
"exon_count": 313,
"exon_rank": 208,
"exon_rank_end": null,
"feature": "ENST00000591111.5",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.43472G>A",
"hgvs_p": "p.Arg14491His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465570.1",
"strand": false,
"transcript": "ENST00000591111.5",
"transcript_support_level": 5
},
{
"aa_alt": "H",
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"aa_length": 33423,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 101520,
"cdna_start": 40916,
"cds_end": null,
"cds_length": 100272,
"cds_start": 40691,
"consequences": [
"missense_variant"
],
"exon_count": 312,
"exon_rank": 207,
"exon_rank_end": null,
"feature": "NM_133378.4",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.40691G>A",
"hgvs_p": "p.Arg13564His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_596869.4",
"strand": false,
"transcript": "NM_133378.4",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"canonical": false,
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"cdna_start": 40916,
"cds_end": null,
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"consequences": [
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],
"exon_count": 312,
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"feature": "ENST00000342992.11",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.40691G>A",
"hgvs_p": "p.Arg13564His",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000343764.6",
"strand": false,
"transcript": "ENST00000342992.11",
"transcript_support_level": 5
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 82605,
"cdna_start": 22001,
"cds_end": null,
"cds_length": 81357,
"cds_start": 21776,
"consequences": [
"missense_variant"
],
"exon_count": 192,
"exon_rank": 87,
"exon_rank_end": null,
"feature": "NM_133437.4",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.21776G>A",
"hgvs_p": "p.Arg7259His",
"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
},
{
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"aa_ref": "R",
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"cds_end": null,
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"consequences": [
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],
"exon_count": 191,
"exon_rank": 86,
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"feature": "ENST00000342175.12",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.21776G>A",
"hgvs_p": "p.Arg7259His",
"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
},
{
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"aa_length": 27051,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 82404,
"cdna_start": 21800,
"cds_end": null,
"cds_length": 81156,
"cds_start": 21575,
"consequences": [
"missense_variant"
],
"exon_count": 192,
"exon_rank": 87,
"exon_rank_end": null,
"feature": "NM_133432.3",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.21575G>A",
"hgvs_p": "p.Arg7192His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_597676.3",
"strand": false,
"transcript": "NM_133432.3",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 82179,
"cdna_start": 21575,
"cds_end": null,
"cds_length": 81156,
"cds_start": 21575,
"consequences": [
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],
"exon_count": 191,
"exon_rank": 86,
"exon_rank_end": null,
"feature": "ENST00000359218.11",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.21575G>A",
"hgvs_p": "p.Arg7192His",
"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",
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},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 21425,
"cds_end": null,
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"cds_start": 21200,
"consequences": [
"missense_variant"
],
"exon_count": 191,
"exon_rank": 86,
"exon_rank_end": null,
"feature": "NM_003319.4",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.21200G>A",
"hgvs_p": "p.Arg7067His",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_003310.4",
"strand": false,
"transcript": "NM_003319.4",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_end": null,
"cds_length": 80781,
"cds_start": 21200,
"consequences": [
"missense_variant"
],
"exon_count": 191,
"exon_rank": 86,
"exon_rank_end": null,
"feature": "ENST00000460472.6",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.21200G>A",
"hgvs_p": "p.Arg7067His",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000434586.1",
"strand": false,
"transcript": "ENST00000460472.6",
"transcript_support_level": 5
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 108117,
"cdna_start": 47513,
"cds_end": null,
"cds_length": 106869,
"cds_start": 47288,
"consequences": [
"missense_variant"
],
"exon_count": 359,
"exon_rank": 254,
"exon_rank_end": null,
"feature": "XM_017004819.1",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.47288G>A",
"hgvs_p": "p.Arg15763His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016860308.1",
"strand": false,
"transcript": "XM_017004819.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 104229,
"cdna_start": 43625,
"cds_end": null,
"cds_length": 102981,
"cds_start": 43400,
"consequences": [
"missense_variant"
],
"exon_count": 317,
"exon_rank": 212,
"exon_rank_end": null,
"feature": "XM_047445660.1",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.43400G>A",
"hgvs_p": "p.Arg14467His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047301616.1",
"strand": false,
"transcript": "XM_047445660.1",
"transcript_support_level": null
},
{
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