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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: 2-178543971-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178543971&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4",
"BP6"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TTN",
"hgnc_id": 12403,
"hgvs_c": "c.96173G>A",
"hgvs_p": "p.Arg32058Gln",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_001267550.2",
"verdict": "Likely_benign"
},
{
"benign_score": 6,
"criteria": [
"BP4",
"BP6",
"BS1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "TTN-AS1",
"hgnc_id": 44124,
"hgvs_c": "n.2043+1610C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -6,
"transcript": "ENST00000419746.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BP6",
"acmg_score": -2,
"allele_count_reference_population": 277,
"alphamissense_prediction": null,
"alphamissense_score": 0.2784,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.28,
"chr": "2",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": " 9, myofibrillar, with early respiratory failure,6 conditions,Autosomal recessive limb-girdle muscular dystrophy type 2J,Cardiomyopathy,Cardiovascular phenotype,Dilated cardiomyopathy 1G,Early-onset myopathy with fatal cardiomyopathy,Myopathy,Tibial muscular dystrophy,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:11 LB:2 B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.27496522665023804,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 35991,
"aa_ref": "R",
"aa_start": 32058,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 109224,
"cdna_start": 96398,
"cds_end": null,
"cds_length": 107976,
"cds_start": 96173,
"consequences": [
"missense_variant"
],
"exon_count": 363,
"exon_rank": 346,
"exon_rank_end": null,
"feature": "NM_001267550.2",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.96173G>A",
"hgvs_p": "p.Arg32058Gln",
"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": "Q",
"aa_end": null,
"aa_length": 35991,
"aa_ref": "R",
"aa_start": 32058,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 109224,
"cdna_start": 96398,
"cds_end": null,
"cds_length": 107976,
"cds_start": 96173,
"consequences": [
"missense_variant"
],
"exon_count": 363,
"exon_rank": 346,
"exon_rank_end": null,
"feature": "ENST00000589042.5",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.96173G>A",
"hgvs_p": "p.Arg32058Gln",
"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": "Q",
"aa_end": null,
"aa_length": 35939,
"aa_ref": "R",
"aa_start": 32006,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 109068,
"cdna_start": 96242,
"cds_end": null,
"cds_length": 107820,
"cds_start": 96017,
"consequences": [
"missense_variant"
],
"exon_count": 361,
"exon_rank": 344,
"exon_rank_end": null,
"feature": "ENST00000446966.2",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.96017G>A",
"hgvs_p": "p.Arg32006Gln",
"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": "Q",
"aa_end": null,
"aa_length": 35899,
"aa_ref": "R",
"aa_start": 31966,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 108948,
"cdna_start": 96122,
"cds_end": null,
"cds_length": 107700,
"cds_start": 95897,
"consequences": [
"missense_variant"
],
"exon_count": 361,
"exon_rank": 344,
"exon_rank_end": null,
"feature": "ENST00000436599.2",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.95897G>A",
"hgvs_p": "p.Arg31966Gln",
"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": "Q",
"aa_end": null,
"aa_length": 35805,
"aa_ref": "R",
"aa_start": 31872,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 108666,
"cdna_start": 95840,
"cds_end": null,
"cds_length": 107418,
"cds_start": 95615,
"consequences": [
"missense_variant"
],
"exon_count": 356,
"exon_rank": 339,
"exon_rank_end": null,
"feature": "ENST00000426232.6",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.95615G>A",
"hgvs_p": "p.Arg31872Gln",
"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.2043+1610C>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": "Q",
"aa_end": null,
"aa_length": 35991,
"aa_ref": "R",
"aa_start": 32058,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 109488,
"cdna_start": 96662,
"cds_end": null,
"cds_length": 107976,
"cds_start": 96173,
"consequences": [
"missense_variant"
],
"exon_count": 365,
"exon_rank": 348,
"exon_rank_end": null,
"feature": "ENST00000412264.2",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.96173G>A",
"hgvs_p": "p.Arg32058Gln",
"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": "Q",
"aa_end": null,
"aa_length": 35963,
"aa_ref": "R",
"aa_start": 32030,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 109140,
"cdna_start": 96314,
"cds_end": null,
"cds_length": 107892,
"cds_start": 96089,
"consequences": [
"missense_variant"
],
"exon_count": 362,
"exon_rank": 345,
"exon_rank_end": null,
"feature": "ENST00000425332.3",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.96089G>A",
"hgvs_p": "p.Arg32030Gln",
"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": "Q",
"aa_end": null,
"aa_length": 35853,
"aa_ref": "R",
"aa_start": 31920,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 108810,
"cdna_start": 95984,
"cds_end": null,
"cds_length": 107562,
"cds_start": 95759,
"consequences": [
"missense_variant"
],
"exon_count": 360,
"exon_rank": 343,
"exon_rank_end": null,
"feature": "ENST00000715174.1",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.95759G>A",
"hgvs_p": "p.Arg31920Gln",
"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": "Q",
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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": 91475,
"cds_end": null,
"cds_length": 103053,
"cds_start": 91250,
"consequences": [
"missense_variant"
],
"exon_count": 313,
"exon_rank": 296,
"exon_rank_end": null,
"feature": "NM_001256850.1",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.91250G>A",
"hgvs_p": "p.Arg30417Gln",
"intron_rank": null,
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"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_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 104301,
"cdna_start": 91475,
"cds_end": null,
"cds_length": 103053,
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"consequences": [
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],
"exon_count": 313,
"exon_rank": 296,
"exon_rank_end": null,
"feature": "ENST00000591111.5",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.91250G>A",
"hgvs_p": "p.Arg30417Gln",
"intron_rank": null,
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"mane_plus": null,
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"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,
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"consequences": [
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],
"exon_count": 312,
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"feature": "NM_133378.4",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.88469G>A",
"hgvs_p": "p.Arg29490Gln",
"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": 88694,
"cds_end": null,
"cds_length": 100272,
"cds_start": 88469,
"consequences": [
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],
"exon_count": 312,
"exon_rank": 295,
"exon_rank_end": null,
"feature": "ENST00000342992.11",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.88469G>A",
"hgvs_p": "p.Arg29490Gln",
"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": "R",
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"cds_end": null,
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"consequences": [
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],
"exon_count": 192,
"exon_rank": 175,
"exon_rank_end": null,
"feature": "NM_133437.4",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.69554G>A",
"hgvs_p": "p.Arg23185Gln",
"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_length": 27118,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 82380,
"cdna_start": 69554,
"cds_end": null,
"cds_length": 81357,
"cds_start": 69554,
"consequences": [
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],
"exon_count": 191,
"exon_rank": 174,
"exon_rank_end": null,
"feature": "ENST00000342175.12",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.69554G>A",
"hgvs_p": "p.Arg23185Gln",
"intron_rank": null,
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"mane_plus": null,
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"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",
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"cdna_end": null,
"cdna_length": 82404,
"cdna_start": 69578,
"cds_end": null,
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"cds_start": 69353,
"consequences": [
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],
"exon_count": 192,
"exon_rank": 175,
"exon_rank_end": null,
"feature": "NM_133432.3",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.69353G>A",
"hgvs_p": "p.Arg23118Gln",
"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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"consequences": [
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],
"exon_count": 191,
"exon_rank": 174,
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"feature": "ENST00000359218.11",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.69353G>A",
"hgvs_p": "p.Arg23118Gln",
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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
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_start": 69203,
"cds_end": null,
"cds_length": 80781,
"cds_start": 68978,
"consequences": [
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],
"exon_count": 191,
"exon_rank": 174,
"exon_rank_end": null,
"feature": "NM_003319.4",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.68978G>A",
"hgvs_p": "p.Arg22993Gln",
"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_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 82029,
"cdna_start": 69203,
"cds_end": null,
"cds_length": 80781,
"cds_start": 68978,
"consequences": [
"missense_variant"
],
"exon_count": 191,
"exon_rank": 174,
"exon_rank_end": null,
"feature": "ENST00000460472.6",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.68978G>A",
"hgvs_p": "p.Arg22993Gln",
"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": "Q",
"aa_end": null,
"aa_length": 35622,
"aa_ref": "R",
"aa_start": 31689,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 108117,
"cdna_start": 95291,
"cds_end": null,
"cds_length": 106869,
"cds_start": 95066,
"consequences": [
"missense_variant"
],
"exon_count": 359,
"exon_rank": 342,
"exon_rank_end": null,
"feature": "XM_017004819.1",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.95066G>A",
"hgvs_p": "p.Arg31689Gln",
"intron_rank": null,
"intron_rank_end": null,
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"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_038271.1",
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},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4592,
"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
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"feature": "NR_038272.1",
"gene_hgnc_id": 44124,
"gene_symbol": "TTN-AS1",
"hgvs_c": "n.2043+1610C>T",
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"strand": true,
"transcript": "NR_038272.1",
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}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs374063064",
"effect": "missense_variant",
"frequency_reference_population": 0.0001716733,
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"gnomad_exomes_ac": 257,
"gnomad_exomes_af": 0.000175849,
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"gnomad_genomes_ac": 20,
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"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"phenotype_combined": "Early-onset myopathy with fatal cardiomyopathy|Dilated cardiomyopathy 1G|Tibial muscular dystrophy|Dilated cardiomyopathy 1G;Autosomal recessive limb-girdle muscular dystrophy type 2J|not specified|Cardiovascular phenotype|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|not provided|6 conditions|Cardiomyopathy",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.905,
"pos": 178543971,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.331,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001267550.2"
}
]
}