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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: 2-178587409-CA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178587409&ref=CA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 178587409,
"ref": "CA",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000589042.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 307,
"exon_rank_end": null,
"exon_count": 363,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.63801delT",
"hgvs_p": "p.Pro21269fs",
"transcript": "NM_001267550.2",
"protein_id": "NP_001254479.2",
"transcript_support_level": null,
"aa_start": 21267,
"aa_end": null,
"aa_length": 35991,
"cds_start": 63801,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 64026,
"cdna_end": null,
"cdna_length": 109224,
"mane_select": "ENST00000589042.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 307,
"exon_rank_end": null,
"exon_count": 363,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.63801delT",
"hgvs_p": "p.Pro21269fs",
"transcript": "ENST00000589042.5",
"protein_id": "ENSP00000467141.1",
"transcript_support_level": 5,
"aa_start": 21267,
"aa_end": null,
"aa_length": 35991,
"cds_start": 63801,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 64026,
"cdna_end": null,
"cdna_length": 109224,
"mane_select": "NM_001267550.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 305,
"exon_rank_end": null,
"exon_count": 361,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.63645delT",
"hgvs_p": "p.Pro21217fs",
"transcript": "ENST00000446966.2",
"protein_id": "ENSP00000408004.2",
"transcript_support_level": 1,
"aa_start": 21215,
"aa_end": null,
"aa_length": 35939,
"cds_start": 63645,
"cds_end": null,
"cds_length": 107820,
"cdna_start": 63870,
"cdna_end": null,
"cdna_length": 109068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 305,
"exon_rank_end": null,
"exon_count": 361,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.63525delT",
"hgvs_p": "p.Pro21177fs",
"transcript": "ENST00000436599.2",
"protein_id": "ENSP00000405517.2",
"transcript_support_level": 1,
"aa_start": 21175,
"aa_end": null,
"aa_length": 35899,
"cds_start": 63525,
"cds_end": null,
"cds_length": 107700,
"cdna_start": 63750,
"cdna_end": null,
"cdna_length": 108948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 300,
"exon_rank_end": null,
"exon_count": 356,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.63243delT",
"hgvs_p": "p.Pro21083fs",
"transcript": "ENST00000426232.6",
"protein_id": "ENSP00000392336.2",
"transcript_support_level": 1,
"aa_start": 21081,
"aa_end": null,
"aa_length": 35805,
"cds_start": 63243,
"cds_end": null,
"cds_length": 107418,
"cdna_start": 63468,
"cdna_end": null,
"cdna_length": 108666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "TTN-AS1",
"gene_hgnc_id": 44124,
"hgvs_c": "n.3188+2417delA",
"hgvs_p": null,
"transcript": "ENST00000419746.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 309,
"exon_rank_end": null,
"exon_count": 365,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.63801delT",
"hgvs_p": "p.Pro21269fs",
"transcript": "ENST00000412264.2",
"protein_id": "ENSP00000394672.2",
"transcript_support_level": 3,
"aa_start": 21267,
"aa_end": null,
"aa_length": 35991,
"cds_start": 63801,
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"cds_length": 107976,
"cdna_start": 64290,
"cdna_end": null,
"cdna_length": 109488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 306,
"exon_rank_end": null,
"exon_count": 362,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.63717delT",
"hgvs_p": "p.Pro21241fs",
"transcript": "ENST00000425332.3",
"protein_id": "ENSP00000396805.3",
"transcript_support_level": 5,
"aa_start": 21239,
"aa_end": null,
"aa_length": 35963,
"cds_start": 63717,
"cds_end": null,
"cds_length": 107892,
"cdna_start": 63942,
"cdna_end": null,
"cdna_length": 109140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 304,
"exon_rank_end": null,
"exon_count": 360,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.63387delT",
"hgvs_p": "p.Pro21131fs",
"transcript": "ENST00000715174.1",
"protein_id": "ENSP00000520370.1",
"transcript_support_level": null,
"aa_start": 21129,
"aa_end": null,
"aa_length": 35853,
"cds_start": 63387,
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"cds_length": 107562,
"cdna_start": 63612,
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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"
],
"exon_rank": 257,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.58878delT",
"hgvs_p": "p.Pro19628fs",
"transcript": "NM_001256850.1",
"protein_id": "NP_001243779.1",
"transcript_support_level": null,
"aa_start": 19626,
"aa_end": null,
"aa_length": 34350,
"cds_start": 58878,
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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": [
"frameshift_variant"
],
"exon_rank": 257,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
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"gene_symbol": "TTN",
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"hgvs_c": "c.58878delT",
"hgvs_p": "p.Pro19628fs",
"transcript": "ENST00000591111.5",
"protein_id": "ENSP00000465570.1",
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},
{
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],
"exon_rank": 256,
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"intron_rank": null,
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"gene_symbol": "TTN",
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"transcript": "NM_133378.4",
"protein_id": "NP_596869.4",
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},
{
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"consequences": [
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],
"exon_rank": 256,
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"exon_count": 312,
"intron_rank": null,
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"gene_symbol": "TTN",
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"hgvs_c": "c.56097delT",
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"transcript": "ENST00000342992.11",
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},
{
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],
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"gene_symbol": "TTN",
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"transcript": "NM_133437.4",
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},
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"intron_rank": null,
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"gene_symbol": "TTN",
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"hgvs_c": "c.37182delT",
"hgvs_p": "p.Pro12396fs",
"transcript": "ENST00000342175.12",
"protein_id": "ENSP00000340554.6",
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},
{
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],
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"gene_symbol": "TTN",
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"hgvs_c": "c.36981delT",
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},
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"gene_symbol": "TTN",
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"hgvs_c": "c.36981delT",
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"transcript": "ENST00000359218.11",
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},
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],
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"intron_rank": null,
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"gene_symbol": "TTN",
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"hgvs_c": "c.36606delT",
"hgvs_p": "p.Pro12204fs",
"transcript": "NM_003319.4",
"protein_id": "NP_003310.4",
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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.62694delT",
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"transcript": "XM_017004819.1",
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},
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],
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"gene_symbol": "TTN",
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},
{
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"protein_coding": true,
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"consequences": [
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],
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"exon_count": 313,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.58470delT",
"hgvs_p": "p.Pro19492fs",
"transcript": "XM_047445661.1",
"protein_id": "XP_047301617.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 254,
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"exon_count": 310,
"intron_rank": null,
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"gene_symbol": "TTN",
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}
],
"message": null
}