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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: 2-178608700-T-TTCAA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178608700&ref=T&alt=TTCAA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 178608700,
"ref": "T",
"alt": "TTCAA",
"effect": "frameshift_variant,stop_gained",
"transcript": "ENST00000589042.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D*?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 274,
"exon_rank_end": null,
"exon_count": 363,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.52307_52310dupTTGA",
"hgvs_p": "p.Glu17437fs",
"transcript": "NM_001267550.2",
"protein_id": "NP_001254479.2",
"transcript_support_level": null,
"aa_start": 17437,
"aa_end": null,
"aa_length": 35991,
"cds_start": 52310,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 52535,
"cdna_end": null,
"cdna_length": 109224,
"mane_select": "ENST00000589042.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D*?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 274,
"exon_rank_end": null,
"exon_count": 363,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.52307_52310dupTTGA",
"hgvs_p": "p.Glu17437fs",
"transcript": "ENST00000589042.5",
"protein_id": "ENSP00000467141.1",
"transcript_support_level": 5,
"aa_start": 17437,
"aa_end": null,
"aa_length": 35991,
"cds_start": 52310,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 52535,
"cdna_end": null,
"cdna_length": 109224,
"mane_select": "NM_001267550.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D*?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 272,
"exon_rank_end": null,
"exon_count": 361,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.52151_52154dupTTGA",
"hgvs_p": "p.Glu17385fs",
"transcript": "ENST00000446966.2",
"protein_id": "ENSP00000408004.2",
"transcript_support_level": 1,
"aa_start": 17385,
"aa_end": null,
"aa_length": 35939,
"cds_start": 52154,
"cds_end": null,
"cds_length": 107820,
"cdna_start": 52379,
"cdna_end": null,
"cdna_length": 109068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D*?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 272,
"exon_rank_end": null,
"exon_count": 361,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.52031_52034dupTTGA",
"hgvs_p": "p.Glu17345fs",
"transcript": "ENST00000436599.2",
"protein_id": "ENSP00000405517.2",
"transcript_support_level": 1,
"aa_start": 17345,
"aa_end": null,
"aa_length": 35899,
"cds_start": 52034,
"cds_end": null,
"cds_length": 107700,
"cdna_start": 52259,
"cdna_end": null,
"cdna_length": 108948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D*?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 267,
"exon_rank_end": null,
"exon_count": 356,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.51749_51752dupTTGA",
"hgvs_p": "p.Glu17251fs",
"transcript": "ENST00000426232.6",
"protein_id": "ENSP00000392336.2",
"transcript_support_level": 1,
"aa_start": 17251,
"aa_end": null,
"aa_length": 35805,
"cds_start": 51752,
"cds_end": null,
"cds_length": 107418,
"cdna_start": 51977,
"cdna_end": null,
"cdna_length": 108666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D*?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 276,
"exon_rank_end": null,
"exon_count": 365,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.52307_52310dupTTGA",
"hgvs_p": "p.Glu17437fs",
"transcript": "ENST00000412264.2",
"protein_id": "ENSP00000394672.2",
"transcript_support_level": 3,
"aa_start": 17437,
"aa_end": null,
"aa_length": 35991,
"cds_start": 52310,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 52799,
"cdna_end": null,
"cdna_length": 109488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D*?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 273,
"exon_rank_end": null,
"exon_count": 362,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.52223_52226dupTTGA",
"hgvs_p": "p.Glu17409fs",
"transcript": "ENST00000425332.3",
"protein_id": "ENSP00000396805.3",
"transcript_support_level": 5,
"aa_start": 17409,
"aa_end": null,
"aa_length": 35963,
"cds_start": 52226,
"cds_end": null,
"cds_length": 107892,
"cdna_start": 52451,
"cdna_end": null,
"cdna_length": 109140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D*?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 271,
"exon_rank_end": null,
"exon_count": 360,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.51893_51896dupTTGA",
"hgvs_p": "p.Glu17299fs",
"transcript": "ENST00000715174.1",
"protein_id": "ENSP00000520370.1",
"transcript_support_level": null,
"aa_start": 17299,
"aa_end": null,
"aa_length": 35853,
"cds_start": 51896,
"cds_end": null,
"cds_length": 107562,
"cdna_start": 52121,
"cdna_end": null,
"cdna_length": 108810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D*?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 224,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.47384_47387dupTTGA",
"hgvs_p": "p.Glu15796fs",
"transcript": "NM_001256850.1",
"protein_id": "NP_001243779.1",
"transcript_support_level": null,
"aa_start": 15796,
"aa_end": null,
"aa_length": 34350,
"cds_start": 47387,
"cds_end": null,
"cds_length": 103053,
"cdna_start": 47612,
"cdna_end": null,
"cdna_length": 104301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D*?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 224,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.47384_47387dupTTGA",
"hgvs_p": "p.Glu15796fs",
"transcript": "ENST00000591111.5",
"protein_id": "ENSP00000465570.1",
"transcript_support_level": 5,
"aa_start": 15796,
"aa_end": null,
"aa_length": 34350,
"cds_start": 47387,
"cds_end": null,
"cds_length": 103053,
"cdna_start": 47612,
"cdna_end": null,
"cdna_length": 104301,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D*?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 223,
"exon_rank_end": null,
"exon_count": 312,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.44603_44606dupTTGA",
"hgvs_p": "p.Glu14869fs",
"transcript": "NM_133378.4",
"protein_id": "NP_596869.4",
"transcript_support_level": null,
"aa_start": 14869,
"aa_end": null,
"aa_length": 33423,
"cds_start": 44606,
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"cds_length": 100272,
"cdna_start": 44831,
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"mane_select": null,
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"feature": null
},
{
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"aa_alt": "D*?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 223,
"exon_rank_end": null,
"exon_count": 312,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.44603_44606dupTTGA",
"hgvs_p": "p.Glu14869fs",
"transcript": "ENST00000342992.11",
"protein_id": "ENSP00000343764.6",
"transcript_support_level": 5,
"aa_start": 14869,
"aa_end": null,
"aa_length": 33423,
"cds_start": 44606,
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"cdna_start": 44831,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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"stop_gained"
],
"exon_rank": 103,
"exon_rank_end": null,
"exon_count": 192,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.25688_25691dupTTGA",
"hgvs_p": "p.Glu8564fs",
"transcript": "NM_133437.4",
"protein_id": "NP_597681.4",
"transcript_support_level": null,
"aa_start": 8564,
"aa_end": null,
"aa_length": 27118,
"cds_start": 25691,
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},
{
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"strand": false,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 102,
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"exon_count": 191,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.25688_25691dupTTGA",
"hgvs_p": "p.Glu8564fs",
"transcript": "ENST00000342175.12",
"protein_id": "ENSP00000340554.6",
"transcript_support_level": 5,
"aa_start": 8564,
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"aa_length": 27118,
"cds_start": 25691,
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"cdna_start": 25691,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 103,
"exon_rank_end": null,
"exon_count": 192,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.25487_25490dupTTGA",
"hgvs_p": "p.Glu8497fs",
"transcript": "NM_133432.3",
"protein_id": "NP_597676.3",
"transcript_support_level": null,
"aa_start": 8497,
"aa_end": null,
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"cds_start": 25490,
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},
{
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"strand": false,
"consequences": [
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"stop_gained"
],
"exon_rank": 102,
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"exon_count": 191,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.25487_25490dupTTGA",
"hgvs_p": "p.Glu8497fs",
"transcript": "ENST00000359218.11",
"protein_id": "ENSP00000352154.5",
"transcript_support_level": 5,
"aa_start": 8497,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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"stop_gained"
],
"exon_rank": 102,
"exon_rank_end": null,
"exon_count": 191,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.25112_25115dupTTGA",
"hgvs_p": "p.Glu8372fs",
"transcript": "NM_003319.4",
"protein_id": "NP_003310.4",
"transcript_support_level": null,
"aa_start": 8372,
"aa_end": null,
"aa_length": 26926,
"cds_start": 25115,
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"cdna_start": 25340,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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"stop_gained"
],
"exon_rank": 102,
"exon_rank_end": null,
"exon_count": 191,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.25112_25115dupTTGA",
"hgvs_p": "p.Glu8372fs",
"transcript": "ENST00000460472.6",
"protein_id": "ENSP00000434586.1",
"transcript_support_level": 5,
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},
{
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"protein_coding": true,
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"frameshift_variant",
"stop_gained"
],
"exon_rank": 270,
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"exon_count": 359,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.51200_51203dupTTGA",
"hgvs_p": "p.Glu17068fs",
"transcript": "XM_017004819.1",
"protein_id": "XP_016860308.1",
"transcript_support_level": null,
"aa_start": 17068,
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"cds_start": 51203,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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"stop_gained"
],
"exon_rank": 228,
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"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.47312_47315dupTTGA",
"hgvs_p": "p.Glu15772fs",
"transcript": "XM_047445660.1",
"protein_id": "XP_047301616.1",
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"cds_start": 47315,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D*?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 224,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.46976_46979dupTTGA",
"hgvs_p": "p.Glu15660fs",
"transcript": "XM_047445661.1",
"protein_id": "XP_047301617.1",
"transcript_support_level": null,
"aa_start": 15660,
"aa_end": null,
"aa_length": 34214,
"cds_start": 46979,
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"cds_length": 102645,
"cdna_start": 47204,
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"cdna_length": 103893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D*?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 221,
"exon_rank_end": null,
"exon_count": 310,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.46745_46748dupTTGA",
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"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4",
"phenotype_combined": "not provided|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J;Dilated cardiomyopathy 1G|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Pathogenic",
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}
],
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}