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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: 2-178609768-G-GGTACTCTTTCCCCTCTTCAAGTCCTTTTGCT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178609768&ref=G&alt=GGTACTCTTTCCCCTCTTCAAGTCCTTTTGCT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 178609768,
"ref": "G",
"alt": "GGTACTCTTTCCCCTCTTCAAGTCCTTTTGCT",
"effect": "frameshift_variant,stop_gained",
"transcript": "ENST00000589042.5",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "YSKRT*RGERV?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 272,
"exon_rank_end": null,
"exon_count": 363,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.51624_51654dupAGCAAAAGGACTTGAAGAGGGGAAAGAGTAC",
"hgvs_p": "p.Gln17219fs",
"transcript": "NM_001267550.2",
"protein_id": "NP_001254479.2",
"transcript_support_level": null,
"aa_start": 17218,
"aa_end": null,
"aa_length": 35991,
"cds_start": 51654,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 51879,
"cdna_end": null,
"cdna_length": 109224,
"mane_select": "ENST00000589042.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "YSKRT*RGERV?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 272,
"exon_rank_end": null,
"exon_count": 363,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.51624_51654dupAGCAAAAGGACTTGAAGAGGGGAAAGAGTAC",
"hgvs_p": "p.Gln17219fs",
"transcript": "ENST00000589042.5",
"protein_id": "ENSP00000467141.1",
"transcript_support_level": 5,
"aa_start": 17218,
"aa_end": null,
"aa_length": 35991,
"cds_start": 51654,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 51879,
"cdna_end": null,
"cdna_length": 109224,
"mane_select": "NM_001267550.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "YSKRT*RGERV?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 270,
"exon_rank_end": null,
"exon_count": 361,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.51468_51498dupAGCAAAAGGACTTGAAGAGGGGAAAGAGTAC",
"hgvs_p": "p.Gln17167fs",
"transcript": "ENST00000446966.2",
"protein_id": "ENSP00000408004.2",
"transcript_support_level": 1,
"aa_start": 17166,
"aa_end": null,
"aa_length": 35939,
"cds_start": 51498,
"cds_end": null,
"cds_length": 107820,
"cdna_start": 51723,
"cdna_end": null,
"cdna_length": 109068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "YSKRT*RGERV?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 270,
"exon_rank_end": null,
"exon_count": 361,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.51348_51378dupAGCAAAAGGACTTGAAGAGGGGAAAGAGTAC",
"hgvs_p": "p.Gln17127fs",
"transcript": "ENST00000436599.2",
"protein_id": "ENSP00000405517.2",
"transcript_support_level": 1,
"aa_start": 17126,
"aa_end": null,
"aa_length": 35899,
"cds_start": 51378,
"cds_end": null,
"cds_length": 107700,
"cdna_start": 51603,
"cdna_end": null,
"cdna_length": 108948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "YSKRT*RGERV?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 265,
"exon_rank_end": null,
"exon_count": 356,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.51066_51096dupAGCAAAAGGACTTGAAGAGGGGAAAGAGTAC",
"hgvs_p": "p.Gln17033fs",
"transcript": "ENST00000426232.6",
"protein_id": "ENSP00000392336.2",
"transcript_support_level": 1,
"aa_start": 17032,
"aa_end": null,
"aa_length": 35805,
"cds_start": 51096,
"cds_end": null,
"cds_length": 107418,
"cdna_start": 51321,
"cdna_end": null,
"cdna_length": 108666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "YSKRT*RGERV?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 274,
"exon_rank_end": null,
"exon_count": 365,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.51624_51654dupAGCAAAAGGACTTGAAGAGGGGAAAGAGTAC",
"hgvs_p": "p.Gln17219fs",
"transcript": "ENST00000412264.2",
"protein_id": "ENSP00000394672.2",
"transcript_support_level": 3,
"aa_start": 17218,
"aa_end": null,
"aa_length": 35991,
"cds_start": 51654,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 52143,
"cdna_end": null,
"cdna_length": 109488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "YSKRT*RGERV?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 271,
"exon_rank_end": null,
"exon_count": 362,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.51540_51570dupAGCAAAAGGACTTGAAGAGGGGAAAGAGTAC",
"hgvs_p": "p.Gln17191fs",
"transcript": "ENST00000425332.3",
"protein_id": "ENSP00000396805.3",
"transcript_support_level": 5,
"aa_start": 17190,
"aa_end": null,
"aa_length": 35963,
"cds_start": 51570,
"cds_end": null,
"cds_length": 107892,
"cdna_start": 51795,
"cdna_end": null,
"cdna_length": 109140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "YSKRT*RGERV?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 269,
"exon_rank_end": null,
"exon_count": 360,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.51210_51240dupAGCAAAAGGACTTGAAGAGGGGAAAGAGTAC",
"hgvs_p": "p.Gln17081fs",
"transcript": "ENST00000715174.1",
"protein_id": "ENSP00000520370.1",
"transcript_support_level": null,
"aa_start": 17080,
"aa_end": null,
"aa_length": 35853,
"cds_start": 51240,
"cds_end": null,
"cds_length": 107562,
"cdna_start": 51465,
"cdna_end": null,
"cdna_length": 108810,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 222,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.46701_46731dupAGCAAAAGGACTTGAAGAGGGGAAAGAGTAC",
"hgvs_p": "p.Gln15578fs",
"transcript": "NM_001256850.1",
"protein_id": "NP_001243779.1",
"transcript_support_level": null,
"aa_start": 15577,
"aa_end": null,
"aa_length": 34350,
"cds_start": 46731,
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"cdna_start": 46956,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 222,
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"exon_count": 313,
"intron_rank": null,
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"gene_symbol": "TTN",
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"hgvs_c": "c.46701_46731dupAGCAAAAGGACTTGAAGAGGGGAAAGAGTAC",
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"transcript": "ENST00000591111.5",
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},
{
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"consequences": [
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],
"exon_rank": 221,
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"gene_symbol": "TTN",
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"hgvs_c": "c.43920_43950dupAGCAAAAGGACTTGAAGAGGGGAAAGAGTAC",
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"transcript": "NM_133378.4",
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},
{
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],
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},
{
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],
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},
{
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],
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},
{
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],
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},
{
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],
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},
{
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},
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},
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],
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},
{
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],
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"gene_symbol": "TTN",
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"hgvs_c": "c.46629_46659dupAGCAAAAGGACTTGAAGAGGGGAAAGAGTAC",
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"transcript": "XM_047445660.1",
"protein_id": "XP_047301616.1",
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},
{
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],
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"gene_symbol": "TTN",
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"hgvs_c": "c.46293_46323dupAGCAAAAGGACTTGAAGAGGGGAAAGAGTAC",
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{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PP5_Very_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000456053.5",
"gene_symbol": "TTN-AS1",
"hgnc_id": 44124,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.749+1506_749+1536dupCTCTTTCCCCTCTTCAAGTCCTTTTGCTGTA",
"hgvs_p": null
}
],
"clinvar_disease": "Autosomal recessive limb-girdle muscular dystrophy type 2J,Cardiovascular phenotype,Dilated cardiomyopathy 1G,not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LP:4",
"phenotype_combined": "Dilated cardiomyopathy 1G;Autosomal recessive limb-girdle muscular dystrophy type 2J|not provided|Cardiovascular phenotype|Dilated cardiomyopathy 1G",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}