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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: 12-119690350-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=119690350&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 119690350,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001206999.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.5987G>A",
"hgvs_p": "p.Ser1996Asn",
"transcript": "NM_001206999.2",
"protein_id": "NP_001193928.1",
"transcript_support_level": null,
"aa_start": 1996,
"aa_end": null,
"aa_length": 2069,
"cds_start": 5987,
"cds_end": null,
"cds_length": 6210,
"cdna_start": 6072,
"cdna_end": null,
"cdna_length": 8736,
"mane_select": "ENST00000392521.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.5987G>A",
"hgvs_p": "p.Ser1996Asn",
"transcript": "ENST00000392521.7",
"protein_id": "ENSP00000376306.2",
"transcript_support_level": 1,
"aa_start": 1996,
"aa_end": null,
"aa_length": 2069,
"cds_start": 5987,
"cds_end": null,
"cds_length": 6210,
"cdna_start": 6072,
"cdna_end": null,
"cdna_length": 8736,
"mane_select": "NM_001206999.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.5861G>A",
"hgvs_p": "p.Ser1954Asn",
"transcript": "ENST00000261833.11",
"protein_id": "ENSP00000261833.7",
"transcript_support_level": 1,
"aa_start": 1954,
"aa_end": null,
"aa_length": 2027,
"cds_start": 5861,
"cds_end": null,
"cds_length": 6084,
"cdna_start": 5914,
"cdna_end": null,
"cdna_length": 8578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.5861G>A",
"hgvs_p": "p.Ser1954Asn",
"transcript": "NM_007174.3",
"protein_id": "NP_009105.1",
"transcript_support_level": null,
"aa_start": 1954,
"aa_end": null,
"aa_length": 2027,
"cds_start": 5861,
"cds_end": null,
"cds_length": 6084,
"cdna_start": 5946,
"cdna_end": null,
"cdna_length": 8610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.4697G>A",
"hgvs_p": "p.Ser1566Asn",
"transcript": "ENST00000392520.2",
"protein_id": "ENSP00000376305.2",
"transcript_support_level": 5,
"aa_start": 1566,
"aa_end": null,
"aa_length": 1639,
"cds_start": 4697,
"cds_end": null,
"cds_length": 4920,
"cdna_start": 4699,
"cdna_end": null,
"cdna_length": 5205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.4631G>A",
"hgvs_p": "p.Ser1544Asn",
"transcript": "ENST00000679249.1",
"protein_id": "ENSP00000503976.1",
"transcript_support_level": null,
"aa_start": 1544,
"aa_end": null,
"aa_length": 1617,
"cds_start": 4631,
"cds_end": null,
"cds_length": 4854,
"cdna_start": 4959,
"cdna_end": null,
"cdna_length": 7611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.4604G>A",
"hgvs_p": "p.Ser1535Asn",
"transcript": "ENST00000676849.1",
"protein_id": "ENSP00000503214.1",
"transcript_support_level": null,
"aa_start": 1535,
"aa_end": null,
"aa_length": 1608,
"cds_start": 4604,
"cds_end": null,
"cds_length": 4827,
"cdna_start": 4940,
"cdna_end": null,
"cdna_length": 7592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.4604G>A",
"hgvs_p": "p.Ser1535Asn",
"transcript": "ENST00000678652.1",
"protein_id": "ENSP00000504849.1",
"transcript_support_level": null,
"aa_start": 1535,
"aa_end": null,
"aa_length": 1608,
"cds_start": 4604,
"cds_end": null,
"cds_length": 4827,
"cdna_start": 4967,
"cdna_end": null,
"cdna_length": 7619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.4589G>A",
"hgvs_p": "p.Ser1530Asn",
"transcript": "ENST00000677993.1",
"protein_id": "ENSP00000503765.1",
"transcript_support_level": null,
"aa_start": 1530,
"aa_end": null,
"aa_length": 1603,
"cds_start": 4589,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 5176,
"cdna_end": null,
"cdna_length": 7828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.4478G>A",
"hgvs_p": "p.Ser1493Asn",
"transcript": "ENST00000678087.1",
"protein_id": "ENSP00000503863.1",
"transcript_support_level": null,
"aa_start": 1493,
"aa_end": null,
"aa_length": 1566,
"cds_start": 4478,
"cds_end": null,
"cds_length": 4701,
"cdna_start": 5032,
"cdna_end": null,
"cdna_length": 7684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.4391G>A",
"hgvs_p": "p.Ser1464Asn",
"transcript": "ENST00000678677.1",
"protein_id": "ENSP00000503253.1",
"transcript_support_level": null,
"aa_start": 1464,
"aa_end": null,
"aa_length": 1537,
"cds_start": 4391,
"cds_end": null,
"cds_length": 4614,
"cdna_start": 4719,
"cdna_end": null,
"cdna_length": 7371,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
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"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.6032G>A",
"hgvs_p": "p.Ser2011Asn",
"transcript": "XM_011537783.2",
"protein_id": "XP_011536085.1",
"transcript_support_level": null,
"aa_start": 2011,
"aa_end": null,
"aa_length": 2084,
"cds_start": 6032,
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"cds_length": 6255,
"cdna_start": 6117,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.6029G>A",
"hgvs_p": "p.Ser2010Asn",
"transcript": "XM_011537784.2",
"protein_id": "XP_011536086.1",
"transcript_support_level": null,
"aa_start": 2010,
"aa_end": null,
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"cds_start": 6029,
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"cdna_start": 6114,
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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": [
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],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
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"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.5987G>A",
"hgvs_p": "p.Ser1996Asn",
"transcript": "XM_011537785.2",
"protein_id": "XP_011536087.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
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"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.5984G>A",
"hgvs_p": "p.Ser1995Asn",
"transcript": "XM_017018735.2",
"protein_id": "XP_016874224.1",
"transcript_support_level": null,
"aa_start": 1995,
"aa_end": null,
"aa_length": 2068,
"cds_start": 5984,
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"cdna_start": 6069,
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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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],
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"exon_count": 49,
"intron_rank": null,
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"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.5984G>A",
"hgvs_p": "p.Ser1995Asn",
"transcript": "XM_017018736.2",
"protein_id": "XP_016874225.1",
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},
{
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"strand": false,
"consequences": [
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],
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"exon_count": 48,
"intron_rank": null,
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"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.5942G>A",
"hgvs_p": "p.Ser1981Asn",
"transcript": "XM_006719206.3",
"protein_id": "XP_006719269.1",
"transcript_support_level": null,
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
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"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.5939G>A",
"hgvs_p": "p.Ser1980Asn",
"transcript": "XM_017018737.2",
"protein_id": "XP_016874226.1",
"transcript_support_level": null,
"aa_start": 1980,
"aa_end": null,
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},
{
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],
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"gene_symbol": "CIT",
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"hgvs_c": "c.5858G>A",
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"transcript": "XM_047428134.1",
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},
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"gene_symbol": "CIT",
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"transcript": "XM_011537787.2",
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},
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],
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"gene_symbol": "CIT",
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"transcript": "XM_011537788.2",
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"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
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"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.4694G>A",
"hgvs_p": "p.Ser1565Asn",
"transcript": "XM_011537789.2",
"protein_id": "XP_011536091.1",
"transcript_support_level": null,
"aa_start": 1565,
"aa_end": null,
"aa_length": 1638,
"cds_start": 4694,
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"cdna_start": 5263,
"cdna_end": null,
"cdna_length": 7927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.4694G>A",
"hgvs_p": "p.Ser1565Asn",
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}