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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: 2-178567954-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178567954&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"effects": [
"stop_gained"
],
"gene_symbol": "TTN",
"hgnc_id": 12403,
"hgvs_c": "c.78178G>T",
"hgvs_p": "p.Glu26060*",
"inheritance_mode": "AD,AR",
"pathogenic_score": 18,
"score": 18,
"transcript": "NM_001267550.2",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "TTN-AS1",
"hgnc_id": 44124,
"hgvs_c": "n.2044-14618C>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 14,
"score": 14,
"transcript": "ENST00000419746.5",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_score": 18,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.66,
"chr": "2",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": "6 conditions,Autosomal recessive limb-girdle muscular dystrophy type 2J,Cardiovascular phenotype,Dilated cardiomyopathy 1G,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3 LP:3",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.6600000262260437,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 35991,
"aa_ref": "E",
"aa_start": 26060,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 109224,
"cdna_start": 78403,
"cds_end": null,
"cds_length": 107976,
"cds_start": 78178,
"consequences": [
"stop_gained"
],
"exon_count": 363,
"exon_rank": 326,
"exon_rank_end": null,
"feature": "NM_001267550.2",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.78178G>T",
"hgvs_p": "p.Glu26060*",
"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": "*",
"aa_end": null,
"aa_length": 35991,
"aa_ref": "E",
"aa_start": 26060,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 109224,
"cdna_start": 78403,
"cds_end": null,
"cds_length": 107976,
"cds_start": 78178,
"consequences": [
"stop_gained"
],
"exon_count": 363,
"exon_rank": 326,
"exon_rank_end": null,
"feature": "ENST00000589042.5",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.78178G>T",
"hgvs_p": "p.Glu26060*",
"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": "*",
"aa_end": null,
"aa_length": 35939,
"aa_ref": "E",
"aa_start": 26008,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 109068,
"cdna_start": 78247,
"cds_end": null,
"cds_length": 107820,
"cds_start": 78022,
"consequences": [
"stop_gained"
],
"exon_count": 361,
"exon_rank": 324,
"exon_rank_end": null,
"feature": "ENST00000446966.2",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.78022G>T",
"hgvs_p": "p.Glu26008*",
"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": "*",
"aa_end": null,
"aa_length": 35899,
"aa_ref": "E",
"aa_start": 25968,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 108948,
"cdna_start": 78127,
"cds_end": null,
"cds_length": 107700,
"cds_start": 77902,
"consequences": [
"stop_gained"
],
"exon_count": 361,
"exon_rank": 324,
"exon_rank_end": null,
"feature": "ENST00000436599.2",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.77902G>T",
"hgvs_p": "p.Glu25968*",
"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": "*",
"aa_end": null,
"aa_length": 35805,
"aa_ref": "E",
"aa_start": 25874,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 108666,
"cdna_start": 77845,
"cds_end": null,
"cds_length": 107418,
"cds_start": 77620,
"consequences": [
"stop_gained"
],
"exon_count": 356,
"exon_rank": 319,
"exon_rank_end": null,
"feature": "ENST00000426232.6",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.77620G>T",
"hgvs_p": "p.Glu25874*",
"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.2044-14618C>A",
"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": "*",
"aa_end": null,
"aa_length": 35991,
"aa_ref": "E",
"aa_start": 26060,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 109488,
"cdna_start": 78667,
"cds_end": null,
"cds_length": 107976,
"cds_start": 78178,
"consequences": [
"stop_gained"
],
"exon_count": 365,
"exon_rank": 328,
"exon_rank_end": null,
"feature": "ENST00000412264.2",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.78178G>T",
"hgvs_p": "p.Glu26060*",
"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": "*",
"aa_end": null,
"aa_length": 35963,
"aa_ref": "E",
"aa_start": 26032,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 109140,
"cdna_start": 78319,
"cds_end": null,
"cds_length": 107892,
"cds_start": 78094,
"consequences": [
"stop_gained"
],
"exon_count": 362,
"exon_rank": 325,
"exon_rank_end": null,
"feature": "ENST00000425332.3",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.78094G>T",
"hgvs_p": "p.Glu26032*",
"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": "*",
"aa_end": null,
"aa_length": 35853,
"aa_ref": "E",
"aa_start": 25922,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 108810,
"cdna_start": 77989,
"cds_end": null,
"cds_length": 107562,
"cds_start": 77764,
"consequences": [
"stop_gained"
],
"exon_count": 360,
"exon_rank": 323,
"exon_rank_end": null,
"feature": "ENST00000715174.1",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.77764G>T",
"hgvs_p": "p.Glu25922*",
"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": "*",
"aa_end": null,
"aa_length": 34350,
"aa_ref": "E",
"aa_start": 24419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 104301,
"cdna_start": 73480,
"cds_end": null,
"cds_length": 103053,
"cds_start": 73255,
"consequences": [
"stop_gained"
],
"exon_count": 313,
"exon_rank": 276,
"exon_rank_end": null,
"feature": "NM_001256850.1",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.73255G>T",
"hgvs_p": "p.Glu24419*",
"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": "*",
"aa_end": null,
"aa_length": 34350,
"aa_ref": "E",
"aa_start": 24419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 104301,
"cdna_start": 73480,
"cds_end": null,
"cds_length": 103053,
"cds_start": 73255,
"consequences": [
"stop_gained"
],
"exon_count": 313,
"exon_rank": 276,
"exon_rank_end": null,
"feature": "ENST00000591111.5",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.73255G>T",
"hgvs_p": "p.Glu24419*",
"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": "*",
"aa_end": null,
"aa_length": 33423,
"aa_ref": "E",
"aa_start": 23492,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 101520,
"cdna_start": 70699,
"cds_end": null,
"cds_length": 100272,
"cds_start": 70474,
"consequences": [
"stop_gained"
],
"exon_count": 312,
"exon_rank": 275,
"exon_rank_end": null,
"feature": "NM_133378.4",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.70474G>T",
"hgvs_p": "p.Glu23492*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_596869.4",
"strand": false,
"transcript": "NM_133378.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 33423,
"aa_ref": "E",
"aa_start": 23492,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 101520,
"cdna_start": 70699,
"cds_end": null,
"cds_length": 100272,
"cds_start": 70474,
"consequences": [
"stop_gained"
],
"exon_count": 312,
"exon_rank": 275,
"exon_rank_end": null,
"feature": "ENST00000342992.11",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.70474G>T",
"hgvs_p": "p.Glu23492*",
"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
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 27118,
"aa_ref": "E",
"aa_start": 17187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 82605,
"cdna_start": 51784,
"cds_end": null,
"cds_length": 81357,
"cds_start": 51559,
"consequences": [
"stop_gained"
],
"exon_count": 192,
"exon_rank": 155,
"exon_rank_end": null,
"feature": "NM_133437.4",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.51559G>T",
"hgvs_p": "p.Glu17187*",
"intron_rank": null,
"intron_rank_end": null,
"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": "*",
"aa_end": null,
"aa_length": 27118,
"aa_ref": "E",
"aa_start": 17187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 82380,
"cdna_start": 51559,
"cds_end": null,
"cds_length": 81357,
"cds_start": 51559,
"consequences": [
"stop_gained"
],
"exon_count": 191,
"exon_rank": 154,
"exon_rank_end": null,
"feature": "ENST00000342175.12",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.51559G>T",
"hgvs_p": "p.Glu17187*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000340554.6",
"strand": false,
"transcript": "ENST00000342175.12",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 27051,
"aa_ref": "E",
"aa_start": 17120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 82404,
"cdna_start": 51583,
"cds_end": null,
"cds_length": 81156,
"cds_start": 51358,
"consequences": [
"stop_gained"
],
"exon_count": 192,
"exon_rank": 155,
"exon_rank_end": null,
"feature": "NM_133432.3",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.51358G>T",
"hgvs_p": "p.Glu17120*",
"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
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 27051,
"aa_ref": "E",
"aa_start": 17120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 82179,
"cdna_start": 51358,
"cds_end": null,
"cds_length": 81156,
"cds_start": 51358,
"consequences": [
"stop_gained"
],
"exon_count": 191,
"exon_rank": 154,
"exon_rank_end": null,
"feature": "ENST00000359218.11",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.51358G>T",
"hgvs_p": "p.Glu17120*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000352154.5",
"strand": false,
"transcript": "ENST00000359218.11",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 26926,
"aa_ref": "E",
"aa_start": 16995,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 82029,
"cdna_start": 51208,
"cds_end": null,
"cds_length": 80781,
"cds_start": 50983,
"consequences": [
"stop_gained"
],
"exon_count": 191,
"exon_rank": 154,
"exon_rank_end": null,
"feature": "NM_003319.4",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.50983G>T",
"hgvs_p": "p.Glu16995*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_003310.4",
"strand": false,
"transcript": "NM_003319.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 26926,
"aa_ref": "E",
"aa_start": 16995,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 82029,
"cdna_start": 51208,
"cds_end": null,
"cds_length": 80781,
"cds_start": 50983,
"consequences": [
"stop_gained"
],
"exon_count": 191,
"exon_rank": 154,
"exon_rank_end": null,
"feature": "ENST00000460472.6",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.50983G>T",
"hgvs_p": "p.Glu16995*",
"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": "*",
"aa_end": null,
"aa_length": 35622,
"aa_ref": "E",
"aa_start": 25691,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 108117,
"cdna_start": 77296,
"cds_end": null,
"cds_length": 106869,
"cds_start": 77071,
"consequences": [
"stop_gained"
],
"exon_count": 359,
"exon_rank": 322,
"exon_rank_end": null,
"feature": "XM_017004819.1",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.77071G>T",
"hgvs_p": "p.Glu25691*",
"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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}
],
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"phenotype_combined": "not provided|Autosomal recessive limb-girdle muscular dystrophy type 2J;Dilated cardiomyopathy 1G|Cardiovascular phenotype|6 conditions",
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}
]
}