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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: 2-178614327-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178614327&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 178614327,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000589042.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 262,
"exon_rank_end": null,
"exon_count": 363,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.49070C>T",
"hgvs_p": "p.Ala16357Val",
"transcript": "NM_001267550.2",
"protein_id": "NP_001254479.2",
"transcript_support_level": null,
"aa_start": 16357,
"aa_end": null,
"aa_length": 35991,
"cds_start": 49070,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 49295,
"cdna_end": null,
"cdna_length": 109224,
"mane_select": "ENST00000589042.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 262,
"exon_rank_end": null,
"exon_count": 363,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.49070C>T",
"hgvs_p": "p.Ala16357Val",
"transcript": "ENST00000589042.5",
"protein_id": "ENSP00000467141.1",
"transcript_support_level": 5,
"aa_start": 16357,
"aa_end": null,
"aa_length": 35991,
"cds_start": 49070,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 49295,
"cdna_end": null,
"cdna_length": 109224,
"mane_select": "NM_001267550.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 260,
"exon_rank_end": null,
"exon_count": 361,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.48914C>T",
"hgvs_p": "p.Ala16305Val",
"transcript": "ENST00000446966.2",
"protein_id": "ENSP00000408004.2",
"transcript_support_level": 1,
"aa_start": 16305,
"aa_end": null,
"aa_length": 35939,
"cds_start": 48914,
"cds_end": null,
"cds_length": 107820,
"cdna_start": 49139,
"cdna_end": null,
"cdna_length": 109068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 260,
"exon_rank_end": null,
"exon_count": 361,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.48794C>T",
"hgvs_p": "p.Ala16265Val",
"transcript": "ENST00000436599.2",
"protein_id": "ENSP00000405517.2",
"transcript_support_level": 1,
"aa_start": 16265,
"aa_end": null,
"aa_length": 35899,
"cds_start": 48794,
"cds_end": null,
"cds_length": 107700,
"cdna_start": 49019,
"cdna_end": null,
"cdna_length": 108948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 255,
"exon_rank_end": null,
"exon_count": 356,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.48512C>T",
"hgvs_p": "p.Ala16171Val",
"transcript": "ENST00000426232.6",
"protein_id": "ENSP00000392336.2",
"transcript_support_level": 1,
"aa_start": 16171,
"aa_end": null,
"aa_length": 35805,
"cds_start": 48512,
"cds_end": null,
"cds_length": 107418,
"cdna_start": 48737,
"cdna_end": null,
"cdna_length": 108666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 264,
"exon_rank_end": null,
"exon_count": 365,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.49070C>T",
"hgvs_p": "p.Ala16357Val",
"transcript": "ENST00000412264.2",
"protein_id": "ENSP00000394672.2",
"transcript_support_level": 3,
"aa_start": 16357,
"aa_end": null,
"aa_length": 35991,
"cds_start": 49070,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 49559,
"cdna_end": null,
"cdna_length": 109488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 261,
"exon_rank_end": null,
"exon_count": 362,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.48986C>T",
"hgvs_p": "p.Ala16329Val",
"transcript": "ENST00000425332.3",
"protein_id": "ENSP00000396805.3",
"transcript_support_level": 5,
"aa_start": 16329,
"aa_end": null,
"aa_length": 35963,
"cds_start": 48986,
"cds_end": null,
"cds_length": 107892,
"cdna_start": 49211,
"cdna_end": null,
"cdna_length": 109140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 259,
"exon_rank_end": null,
"exon_count": 360,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.48656C>T",
"hgvs_p": "p.Ala16219Val",
"transcript": "ENST00000715174.1",
"protein_id": "ENSP00000520370.1",
"transcript_support_level": null,
"aa_start": 16219,
"aa_end": null,
"aa_length": 35853,
"cds_start": 48656,
"cds_end": null,
"cds_length": 107562,
"cdna_start": 48881,
"cdna_end": null,
"cdna_length": 108810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 212,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.44147C>T",
"hgvs_p": "p.Ala14716Val",
"transcript": "NM_001256850.1",
"protein_id": "NP_001243779.1",
"transcript_support_level": null,
"aa_start": 14716,
"aa_end": null,
"aa_length": 34350,
"cds_start": 44147,
"cds_end": null,
"cds_length": 103053,
"cdna_start": 44372,
"cdna_end": null,
"cdna_length": 104301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 212,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.44147C>T",
"hgvs_p": "p.Ala14716Val",
"transcript": "ENST00000591111.5",
"protein_id": "ENSP00000465570.1",
"transcript_support_level": 5,
"aa_start": 14716,
"aa_end": null,
"aa_length": 34350,
"cds_start": 44147,
"cds_end": null,
"cds_length": 103053,
"cdna_start": 44372,
"cdna_end": null,
"cdna_length": 104301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 211,
"exon_rank_end": null,
"exon_count": 312,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.41366C>T",
"hgvs_p": "p.Ala13789Val",
"transcript": "NM_133378.4",
"protein_id": "NP_596869.4",
"transcript_support_level": null,
"aa_start": 13789,
"aa_end": null,
"aa_length": 33423,
"cds_start": 41366,
"cds_end": null,
"cds_length": 100272,
"cdna_start": 41591,
"cdna_end": null,
"cdna_length": 101520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 211,
"exon_rank_end": null,
"exon_count": 312,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.41366C>T",
"hgvs_p": "p.Ala13789Val",
"transcript": "ENST00000342992.11",
"protein_id": "ENSP00000343764.6",
"transcript_support_level": 5,
"aa_start": 13789,
"aa_end": null,
"aa_length": 33423,
"cds_start": 41366,
"cds_end": null,
"cds_length": 100272,
"cdna_start": 41591,
"cdna_end": null,
"cdna_length": 101520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 91,
"exon_rank_end": null,
"exon_count": 192,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.22451C>T",
"hgvs_p": "p.Ala7484Val",
"transcript": "NM_133437.4",
"protein_id": "NP_597681.4",
"transcript_support_level": null,
"aa_start": 7484,
"aa_end": null,
"aa_length": 27118,
"cds_start": 22451,
"cds_end": null,
"cds_length": 81357,
"cdna_start": 22676,
"cdna_end": null,
"cdna_length": 82605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 90,
"exon_rank_end": null,
"exon_count": 191,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.22451C>T",
"hgvs_p": "p.Ala7484Val",
"transcript": "ENST00000342175.12",
"protein_id": "ENSP00000340554.6",
"transcript_support_level": 5,
"aa_start": 7484,
"aa_end": null,
"aa_length": 27118,
"cds_start": 22451,
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"cdna_start": 22451,
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"cdna_length": 82380,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 91,
"exon_rank_end": null,
"exon_count": 192,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.22250C>T",
"hgvs_p": "p.Ala7417Val",
"transcript": "NM_133432.3",
"protein_id": "NP_597676.3",
"transcript_support_level": null,
"aa_start": 7417,
"aa_end": null,
"aa_length": 27051,
"cds_start": 22250,
"cds_end": null,
"cds_length": 81156,
"cdna_start": 22475,
"cdna_end": null,
"cdna_length": 82404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 90,
"exon_rank_end": null,
"exon_count": 191,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.22250C>T",
"hgvs_p": "p.Ala7417Val",
"transcript": "ENST00000359218.11",
"protein_id": "ENSP00000352154.5",
"transcript_support_level": 5,
"aa_start": 7417,
"aa_end": null,
"aa_length": 27051,
"cds_start": 22250,
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"cdna_start": 22250,
"cdna_end": null,
"cdna_length": 82179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 90,
"exon_rank_end": null,
"exon_count": 191,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.21875C>T",
"hgvs_p": "p.Ala7292Val",
"transcript": "NM_003319.4",
"protein_id": "NP_003310.4",
"transcript_support_level": null,
"aa_start": 7292,
"aa_end": null,
"aa_length": 26926,
"cds_start": 21875,
"cds_end": null,
"cds_length": 80781,
"cdna_start": 22100,
"cdna_end": null,
"cdna_length": 82029,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 90,
"exon_rank_end": null,
"exon_count": 191,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.21875C>T",
"hgvs_p": "p.Ala7292Val",
"transcript": "ENST00000460472.6",
"protein_id": "ENSP00000434586.1",
"transcript_support_level": 5,
"aa_start": 7292,
"aa_end": null,
"aa_length": 26926,
"cds_start": 21875,
"cds_end": null,
"cds_length": 80781,
"cdna_start": 22100,
"cdna_end": null,
"cdna_length": 82029,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 258,
"exon_rank_end": null,
"exon_count": 359,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.47963C>T",
"hgvs_p": "p.Ala15988Val",
"transcript": "XM_017004819.1",
"protein_id": "XP_016860308.1",
"transcript_support_level": null,
"aa_start": 15988,
"aa_end": null,
"aa_length": 35622,
"cds_start": 47963,
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"cdna_start": 48188,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 216,
"exon_rank_end": null,
"exon_count": 317,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.44075C>T",
"hgvs_p": "p.Ala14692Val",
"transcript": "XM_047445660.1",
"protein_id": "XP_047301616.1",
"transcript_support_level": null,
"aa_start": 14692,
"aa_end": null,
"aa_length": 34326,
"cds_start": 44075,
"cds_end": null,
"cds_length": 102981,
"cdna_start": 44300,
"cdna_end": null,
"cdna_length": 104229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 212,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.43739C>T",
"hgvs_p": "p.Ala14580Val",
"transcript": "XM_047445661.1",
"protein_id": "XP_047301617.1",
"transcript_support_level": null,
"aa_start": 14580,
"aa_end": null,
"aa_length": 34214,
"cds_start": 43739,
"cds_end": null,
"cds_length": 102645,
"cdna_start": 43964,
"cdna_end": null,
"cdna_length": 103893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 209,
"exon_rank_end": null,
"exon_count": 310,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.43508C>T",
"hgvs_p": "p.Ala14503Val",
"transcript": "XM_024453095.1",
"protein_id": "XP_024308863.1",
"transcript_support_level": null,
"aa_start": 14503,
"aa_end": null,
"aa_length": 34137,
"cds_start": 43508,
"cds_end": null,
"cds_length": 102414,
"cdna_start": 43733,
"cdna_end": null,
"cdna_length": 103662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 235,
"exon_rank_end": null,
"exon_count": 336,
"intron_rank": null,
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{
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{
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],
"clinvar_disease": " 9, myofibrillar, with early respiratory failure,Autosomal recessive limb-girdle muscular dystrophy type 2J,Dilated cardiomyopathy 1G,Early-onset myopathy with fatal cardiomyopathy,Myopathy,Tibial muscular dystrophy,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:10",
"phenotype_combined": "not provided|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|Tibial muscular dystrophy|Early-onset myopathy with fatal cardiomyopathy|not specified|Autosomal recessive limb-girdle muscular dystrophy type 2J;Dilated cardiomyopathy 1G",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}