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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: 2-178591810-AC-GG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178591810&ref=AC&alt=GG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TTN",
"hgnc_id": 12403,
"hgvs_c": "c.60008_60009delGTinsCC",
"hgvs_p": "p.Arg20003Pro",
"inheritance_mode": "AD,AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_001267550.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"intron_variant"
],
"gene_symbol": "TTN-AS1",
"hgnc_id": 44124,
"hgvs_c": "n.3364+496_3364+497delACinsGG",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 1,
"score": 1,
"transcript": "ENST00000419746.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 35991,
"aa_ref": "R",
"aa_start": 20003,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 109224,
"cdna_start": 60234,
"cds_end": null,
"cds_length": 107976,
"cds_start": 60008,
"consequences": [
"missense_variant"
],
"exon_count": 363,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001267550.2",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.60008_60009delGTinsCC",
"hgvs_p": "p.Arg20003Pro",
"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": "P",
"aa_end": null,
"aa_length": 35991,
"aa_ref": "R",
"aa_start": 20003,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 109224,
"cdna_start": 60234,
"cds_end": null,
"cds_length": 107976,
"cds_start": 60008,
"consequences": [
"missense_variant"
],
"exon_count": 363,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000589042.5",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.60008_60009delGTinsCC",
"hgvs_p": "p.Arg20003Pro",
"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": "P",
"aa_end": null,
"aa_length": 35939,
"aa_ref": "R",
"aa_start": 19951,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 109068,
"cdna_start": 60078,
"cds_end": null,
"cds_length": 107820,
"cds_start": 59852,
"consequences": [
"missense_variant"
],
"exon_count": 361,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000446966.2",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.59852_59853delGTinsCC",
"hgvs_p": "p.Arg19951Pro",
"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": "P",
"aa_end": null,
"aa_length": 35899,
"aa_ref": "R",
"aa_start": 19911,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 108948,
"cdna_start": 59958,
"cds_end": null,
"cds_length": 107700,
"cds_start": 59732,
"consequences": [
"missense_variant"
],
"exon_count": 361,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000436599.2",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.59732_59733delGTinsCC",
"hgvs_p": "p.Arg19911Pro",
"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": "P",
"aa_end": null,
"aa_length": 35805,
"aa_ref": "R",
"aa_start": 19817,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 108666,
"cdna_start": 59676,
"cds_end": null,
"cds_length": 107418,
"cds_start": 59450,
"consequences": [
"missense_variant"
],
"exon_count": 356,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000426232.6",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.59450_59451delGTinsCC",
"hgvs_p": "p.Arg19817Pro",
"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.3364+496_3364+497delACinsGG",
"hgvs_p": null,
"intron_rank": 12,
"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": "P",
"aa_end": null,
"aa_length": 35991,
"aa_ref": "R",
"aa_start": 20003,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 109488,
"cdna_start": 60498,
"cds_end": null,
"cds_length": 107976,
"cds_start": 60008,
"consequences": [
"missense_variant"
],
"exon_count": 365,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000412264.2",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.60008_60009delGTinsCC",
"hgvs_p": "p.Arg20003Pro",
"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": "P",
"aa_end": null,
"aa_length": 35963,
"aa_ref": "R",
"aa_start": 19975,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 109140,
"cdna_start": 60150,
"cds_end": null,
"cds_length": 107892,
"cds_start": 59924,
"consequences": [
"missense_variant"
],
"exon_count": 362,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000425332.3",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.59924_59925delGTinsCC",
"hgvs_p": "p.Arg19975Pro",
"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": "P",
"aa_end": null,
"aa_length": 35853,
"aa_ref": "R",
"aa_start": 19865,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 108810,
"cdna_start": 59820,
"cds_end": null,
"cds_length": 107562,
"cds_start": 59594,
"consequences": [
"missense_variant"
],
"exon_count": 360,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000715174.1",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.59594_59595delGTinsCC",
"hgvs_p": "p.Arg19865Pro",
"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": "P",
"aa_end": null,
"aa_length": 34350,
"aa_ref": "R",
"aa_start": 18362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 104301,
"cdna_start": 55311,
"cds_end": null,
"cds_length": 103053,
"cds_start": 55085,
"consequences": [
"missense_variant"
],
"exon_count": 313,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001256850.1",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.55085_55086delGTinsCC",
"hgvs_p": "p.Arg18362Pro",
"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": 55311,
"cds_end": null,
"cds_length": 103053,
"cds_start": 55085,
"consequences": [
"missense_variant"
],
"exon_count": 313,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000591111.5",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.55085_55086delGTinsCC",
"hgvs_p": "p.Arg18362Pro",
"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": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 101520,
"cdna_start": 52530,
"cds_end": null,
"cds_length": 100272,
"cds_start": 52304,
"consequences": [
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],
"exon_count": 312,
"exon_rank": null,
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"feature": "NM_133378.4",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.52304_52305delGTinsCC",
"hgvs_p": "p.Arg17435Pro",
"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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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 101520,
"cdna_start": 52530,
"cds_end": null,
"cds_length": 100272,
"cds_start": 52304,
"consequences": [
"missense_variant"
],
"exon_count": 312,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000342992.11",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.52304_52305delGTinsCC",
"hgvs_p": "p.Arg17435Pro",
"intron_rank": null,
"intron_rank_end": null,
"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": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 33615,
"cds_end": null,
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"cds_start": 33389,
"consequences": [
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],
"exon_count": 192,
"exon_rank": null,
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"feature": "NM_133437.4",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.33389_33390delGTinsCC",
"hgvs_p": "p.Arg11130Pro",
"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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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 82380,
"cdna_start": 33390,
"cds_end": null,
"cds_length": 81357,
"cds_start": 33389,
"consequences": [
"missense_variant"
],
"exon_count": 191,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000342175.12",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.33389_33390delGTinsCC",
"hgvs_p": "p.Arg11130Pro",
"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_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 82404,
"cdna_start": 33414,
"cds_end": null,
"cds_length": 81156,
"cds_start": 33188,
"consequences": [
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],
"exon_count": 192,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_133432.3",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.33188_33189delGTinsCC",
"hgvs_p": "p.Arg11063Pro",
"intron_rank": null,
"intron_rank_end": null,
"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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"biotype": "protein_coding",
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"cdna_start": 33189,
"cds_end": null,
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"cds_start": 33188,
"consequences": [
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],
"exon_count": 191,
"exon_rank": null,
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"feature": "ENST00000359218.11",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.33188_33189delGTinsCC",
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"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000352154.5",
"strand": false,
"transcript": "ENST00000359218.11",
"transcript_support_level": 5
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_start": 33039,
"cds_end": null,
"cds_length": 80781,
"cds_start": 32813,
"consequences": [
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],
"exon_count": 191,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_003319.4",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.32813_32814delGTinsCC",
"hgvs_p": "p.Arg10938Pro",
"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",
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},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_start": 33039,
"cds_end": null,
"cds_length": 80781,
"cds_start": 32813,
"consequences": [
"missense_variant"
],
"exon_count": 191,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000460472.6",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.32813_32814delGTinsCC",
"hgvs_p": "p.Arg10938Pro",
"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": "P",
"aa_end": null,
"aa_length": 35622,
"aa_ref": "R",
"aa_start": 19634,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 108117,
"cdna_start": 59127,
"cds_end": null,
"cds_length": 106869,
"cds_start": 58901,
"consequences": [
"missense_variant"
],
"exon_count": 359,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017004819.1",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.58901_58902delGTinsCC",
"hgvs_p": "p.Arg19634Pro",
"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
},
{
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