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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: 2-178632349-T-TA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178632349&ref=T&alt=TA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 178632349,
"ref": "T",
"alt": "TA",
"effect": "frameshift_variant",
"transcript": "ENST00000589042.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 236,
"exon_rank_end": null,
"exon_count": 363,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.43544dupT",
"hgvs_p": "p.Phe14516fs",
"transcript": "NM_001267550.2",
"protein_id": "NP_001254479.2",
"transcript_support_level": null,
"aa_start": 14515,
"aa_end": null,
"aa_length": 35991,
"cds_start": 43544,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 43769,
"cdna_end": null,
"cdna_length": 109224,
"mane_select": "ENST00000589042.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 236,
"exon_rank_end": null,
"exon_count": 363,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.43544dupT",
"hgvs_p": "p.Phe14516fs",
"transcript": "ENST00000589042.5",
"protein_id": "ENSP00000467141.1",
"transcript_support_level": 5,
"aa_start": 14515,
"aa_end": null,
"aa_length": 35991,
"cds_start": 43544,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 43769,
"cdna_end": null,
"cdna_length": 109224,
"mane_select": "NM_001267550.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 234,
"exon_rank_end": null,
"exon_count": 361,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.43388dupT",
"hgvs_p": "p.Phe14464fs",
"transcript": "ENST00000446966.2",
"protein_id": "ENSP00000408004.2",
"transcript_support_level": 1,
"aa_start": 14463,
"aa_end": null,
"aa_length": 35939,
"cds_start": 43388,
"cds_end": null,
"cds_length": 107820,
"cdna_start": 43613,
"cdna_end": null,
"cdna_length": 109068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 234,
"exon_rank_end": null,
"exon_count": 361,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.43268dupT",
"hgvs_p": "p.Phe14424fs",
"transcript": "ENST00000436599.2",
"protein_id": "ENSP00000405517.2",
"transcript_support_level": 1,
"aa_start": 14423,
"aa_end": null,
"aa_length": 35899,
"cds_start": 43268,
"cds_end": null,
"cds_length": 107700,
"cdna_start": 43493,
"cdna_end": null,
"cdna_length": 108948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 229,
"exon_rank_end": null,
"exon_count": 356,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.42986dupT",
"hgvs_p": "p.Phe14330fs",
"transcript": "ENST00000426232.6",
"protein_id": "ENSP00000392336.2",
"transcript_support_level": 1,
"aa_start": 14329,
"aa_end": null,
"aa_length": 35805,
"cds_start": 42986,
"cds_end": null,
"cds_length": 107418,
"cdna_start": 43211,
"cdna_end": null,
"cdna_length": 108666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 238,
"exon_rank_end": null,
"exon_count": 365,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.43544dupT",
"hgvs_p": "p.Phe14516fs",
"transcript": "ENST00000412264.2",
"protein_id": "ENSP00000394672.2",
"transcript_support_level": 3,
"aa_start": 14515,
"aa_end": null,
"aa_length": 35991,
"cds_start": 43544,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 44033,
"cdna_end": null,
"cdna_length": 109488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 235,
"exon_rank_end": null,
"exon_count": 362,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.43460dupT",
"hgvs_p": "p.Phe14488fs",
"transcript": "ENST00000425332.3",
"protein_id": "ENSP00000396805.3",
"transcript_support_level": 5,
"aa_start": 14487,
"aa_end": null,
"aa_length": 35963,
"cds_start": 43460,
"cds_end": null,
"cds_length": 107892,
"cdna_start": 43685,
"cdna_end": null,
"cdna_length": 109140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 233,
"exon_rank_end": null,
"exon_count": 360,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.43130dupT",
"hgvs_p": "p.Phe14378fs",
"transcript": "ENST00000715174.1",
"protein_id": "ENSP00000520370.1",
"transcript_support_level": null,
"aa_start": 14377,
"aa_end": null,
"aa_length": 35853,
"cds_start": 43130,
"cds_end": null,
"cds_length": 107562,
"cdna_start": 43355,
"cdna_end": null,
"cdna_length": 108810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 186,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.38621dupT",
"hgvs_p": "p.Phe12875fs",
"transcript": "NM_001256850.1",
"protein_id": "NP_001243779.1",
"transcript_support_level": null,
"aa_start": 12874,
"aa_end": null,
"aa_length": 34350,
"cds_start": 38621,
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"cds_length": 103053,
"cdna_start": 38846,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 186,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.38621dupT",
"hgvs_p": "p.Phe12875fs",
"transcript": "ENST00000591111.5",
"protein_id": "ENSP00000465570.1",
"transcript_support_level": 5,
"aa_start": 12874,
"aa_end": null,
"aa_length": 34350,
"cds_start": 38621,
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"cdna_start": 38846,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 185,
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"exon_count": 312,
"intron_rank": null,
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"gene_symbol": "TTN",
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"hgvs_c": "c.35840dupT",
"hgvs_p": "p.Phe11948fs",
"transcript": "NM_133378.4",
"protein_id": "NP_596869.4",
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"cds_start": 35840,
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},
{
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],
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},
{
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"strand": false,
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],
"exon_rank": 65,
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"exon_count": 192,
"intron_rank": null,
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"gene_symbol": "TTN",
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"transcript": "NM_133437.4",
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},
{
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],
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.16724dupT",
"hgvs_p": "p.Phe5576fs",
"transcript": "NM_133432.3",
"protein_id": "NP_597676.3",
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},
{
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},
{
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"gene_symbol": "TTN",
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"hgvs_c": "c.16349dupT",
"hgvs_p": "p.Phe5451fs",
"transcript": "NM_003319.4",
"protein_id": "NP_003310.4",
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},
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.16349dupT",
"hgvs_p": "p.Phe5451fs",
"transcript": "ENST00000460472.6",
"protein_id": "ENSP00000434586.1",
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},
{
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"hgvs_c": "c.42437dupT",
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},
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 183,
"exon_rank_end": null,
"exon_count": 310,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.37982dupT",
"hgvs_p": "p.Phe12662fs",
"transcript": "XM_024453095.1",
"protein_id": "XP_024308863.1",
"transcript_support_level": null,
"aa_start": 12661,
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"aa_length": 34137,
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"biotype": null,
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},
{
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"aa_alt": "V?",
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 209,
"exon_rank_end": null,
"exon_count": 336,
"intron_rank": null,
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"splice_score_selected": 0,
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{
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"PM2",
"PP5"
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"verdict": "Pathogenic",
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{
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"verdict": "Uncertain_significance",
"transcript": "ENST00000653807.1",
"gene_symbol": "TTN-AS1",
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "Autosomal recessive limb-girdle muscular dystrophy type 2J,Dilated cardiomyopathy 1G,Primary dilated cardiomyopathy,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:2 US:1",
"phenotype_combined": "not provided|Primary dilated cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J;Dilated cardiomyopathy 1G",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}