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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: 12-119690338-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=119690338&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 119690338,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001206999.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"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.5999G>C",
"hgvs_p": "p.Arg2000Pro",
"transcript": "NM_001206999.2",
"protein_id": "NP_001193928.1",
"transcript_support_level": null,
"aa_start": 2000,
"aa_end": null,
"aa_length": 2069,
"cds_start": 5999,
"cds_end": null,
"cds_length": 6210,
"cdna_start": 6084,
"cdna_end": null,
"cdna_length": 8736,
"mane_select": "ENST00000392521.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"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.5999G>C",
"hgvs_p": "p.Arg2000Pro",
"transcript": "ENST00000392521.7",
"protein_id": "ENSP00000376306.2",
"transcript_support_level": 1,
"aa_start": 2000,
"aa_end": null,
"aa_length": 2069,
"cds_start": 5999,
"cds_end": null,
"cds_length": 6210,
"cdna_start": 6084,
"cdna_end": null,
"cdna_length": 8736,
"mane_select": "NM_001206999.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"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.5873G>C",
"hgvs_p": "p.Arg1958Pro",
"transcript": "ENST00000261833.11",
"protein_id": "ENSP00000261833.7",
"transcript_support_level": 1,
"aa_start": 1958,
"aa_end": null,
"aa_length": 2027,
"cds_start": 5873,
"cds_end": null,
"cds_length": 6084,
"cdna_start": 5926,
"cdna_end": null,
"cdna_length": 8578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"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.5873G>C",
"hgvs_p": "p.Arg1958Pro",
"transcript": "NM_007174.3",
"protein_id": "NP_009105.1",
"transcript_support_level": null,
"aa_start": 1958,
"aa_end": null,
"aa_length": 2027,
"cds_start": 5873,
"cds_end": null,
"cds_length": 6084,
"cdna_start": 5958,
"cdna_end": null,
"cdna_length": 8610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"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.4709G>C",
"hgvs_p": "p.Arg1570Pro",
"transcript": "ENST00000392520.2",
"protein_id": "ENSP00000376305.2",
"transcript_support_level": 5,
"aa_start": 1570,
"aa_end": null,
"aa_length": 1639,
"cds_start": 4709,
"cds_end": null,
"cds_length": 4920,
"cdna_start": 4711,
"cdna_end": null,
"cdna_length": 5205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"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.4643G>C",
"hgvs_p": "p.Arg1548Pro",
"transcript": "ENST00000679249.1",
"protein_id": "ENSP00000503976.1",
"transcript_support_level": null,
"aa_start": 1548,
"aa_end": null,
"aa_length": 1617,
"cds_start": 4643,
"cds_end": null,
"cds_length": 4854,
"cdna_start": 4971,
"cdna_end": null,
"cdna_length": 7611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"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.4616G>C",
"hgvs_p": "p.Arg1539Pro",
"transcript": "ENST00000676849.1",
"protein_id": "ENSP00000503214.1",
"transcript_support_level": null,
"aa_start": 1539,
"aa_end": null,
"aa_length": 1608,
"cds_start": 4616,
"cds_end": null,
"cds_length": 4827,
"cdna_start": 4952,
"cdna_end": null,
"cdna_length": 7592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"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.4616G>C",
"hgvs_p": "p.Arg1539Pro",
"transcript": "ENST00000678652.1",
"protein_id": "ENSP00000504849.1",
"transcript_support_level": null,
"aa_start": 1539,
"aa_end": null,
"aa_length": 1608,
"cds_start": 4616,
"cds_end": null,
"cds_length": 4827,
"cdna_start": 4979,
"cdna_end": null,
"cdna_length": 7619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"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.4601G>C",
"hgvs_p": "p.Arg1534Pro",
"transcript": "ENST00000677993.1",
"protein_id": "ENSP00000503765.1",
"transcript_support_level": null,
"aa_start": 1534,
"aa_end": null,
"aa_length": 1603,
"cds_start": 4601,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 5188,
"cdna_end": null,
"cdna_length": 7828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"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.4490G>C",
"hgvs_p": "p.Arg1497Pro",
"transcript": "ENST00000678087.1",
"protein_id": "ENSP00000503863.1",
"transcript_support_level": null,
"aa_start": 1497,
"aa_end": null,
"aa_length": 1566,
"cds_start": 4490,
"cds_end": null,
"cds_length": 4701,
"cdna_start": 5044,
"cdna_end": null,
"cdna_length": 7684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"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.4403G>C",
"hgvs_p": "p.Arg1468Pro",
"transcript": "ENST00000678677.1",
"protein_id": "ENSP00000503253.1",
"transcript_support_level": null,
"aa_start": 1468,
"aa_end": null,
"aa_length": 1537,
"cds_start": 4403,
"cds_end": null,
"cds_length": 4614,
"cdna_start": 4731,
"cdna_end": null,
"cdna_length": 7371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"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.6044G>C",
"hgvs_p": "p.Arg2015Pro",
"transcript": "XM_011537783.2",
"protein_id": "XP_011536085.1",
"transcript_support_level": null,
"aa_start": 2015,
"aa_end": null,
"aa_length": 2084,
"cds_start": 6044,
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"cds_length": 6255,
"cdna_start": 6129,
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"mane_select": null,
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"feature": null
},
{
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"aa_alt": "P",
"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.6041G>C",
"hgvs_p": "p.Arg2014Pro",
"transcript": "XM_011537784.2",
"protein_id": "XP_011536086.1",
"transcript_support_level": null,
"aa_start": 2014,
"aa_end": null,
"aa_length": 2083,
"cds_start": 6041,
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"cdna_start": 6126,
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"mane_select": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 48,
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"exon_count": 49,
"intron_rank": null,
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"gene_symbol": "CIT",
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"hgvs_c": "c.5999G>C",
"hgvs_p": "p.Arg2000Pro",
"transcript": "XM_011537785.2",
"protein_id": "XP_011536087.1",
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 47,
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"exon_count": 48,
"intron_rank": null,
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"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.5996G>C",
"hgvs_p": "p.Arg1999Pro",
"transcript": "XM_017018735.2",
"protein_id": "XP_016874224.1",
"transcript_support_level": null,
"aa_start": 1999,
"aa_end": null,
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"cds_start": 5996,
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"cdna_start": 6081,
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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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],
"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.5996G>C",
"hgvs_p": "p.Arg1999Pro",
"transcript": "XM_017018736.2",
"protein_id": "XP_016874225.1",
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},
{
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"protein_coding": true,
"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.5954G>C",
"hgvs_p": "p.Arg1985Pro",
"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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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"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.5951G>C",
"hgvs_p": "p.Arg1984Pro",
"transcript": "XM_017018737.2",
"protein_id": "XP_016874226.1",
"transcript_support_level": null,
"aa_start": 1984,
"aa_end": null,
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"cdna_start": 6036,
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},
{
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"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "CIT",
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"hgvs_c": "c.5870G>C",
"hgvs_p": "p.Arg1957Pro",
"transcript": "XM_047428134.1",
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],
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"gene_symbol": "CIT",
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"hgvs_c": "c.5828G>C",
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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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"hgvs_c": "c.5825G>C",
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"transcript": "XM_011537788.2",
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.4706G>C",
"hgvs_p": "p.Arg1569Pro",
"transcript": "XM_011537789.2",
"protein_id": "XP_011536091.1",
"transcript_support_level": null,
"aa_start": 1569,
"aa_end": null,
"aa_length": 1638,
"cds_start": 4706,
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"cdna_start": 5275,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"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.4706G>C",
"hgvs_p": "p.Arg1569Pro",
"transcript": "XM_011537790.2",
"protein_id": "XP_011536092.1",
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