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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: 17-18898528-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=18898528&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 18898528,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000268835.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PRPSAP2",
"gene_hgnc_id": 9467,
"hgvs_c": "c.584+8651A>C",
"hgvs_p": null,
"transcript": "NM_002767.4",
"protein_id": "NP_002758.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 369,
"cds_start": -4,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1958,
"mane_select": "ENST00000268835.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PRPSAP2",
"gene_hgnc_id": 9467,
"hgvs_c": "c.584+8651A>C",
"hgvs_p": null,
"transcript": "ENST00000268835.7",
"protein_id": "ENSP00000268835.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 369,
"cds_start": -4,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1958,
"mane_select": "NM_002767.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PRPSAP2",
"gene_hgnc_id": 9467,
"hgvs_c": "c.584+8651A>C",
"hgvs_p": null,
"transcript": "ENST00000542013.5",
"protein_id": "ENSP00000439129.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 320,
"cds_start": -4,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PRPSAP2",
"gene_hgnc_id": 9467,
"hgvs_c": "c.326+8651A>C",
"hgvs_p": null,
"transcript": "ENST00000610773.4",
"protein_id": "ENSP00000481322.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 283,
"cds_start": -4,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1905,
"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": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PRPSAP2",
"gene_hgnc_id": 9467,
"hgvs_c": "n.*294+8651A>C",
"hgvs_p": null,
"transcript": "ENST00000492129.5",
"protein_id": "ENSP00000459727.1",
"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": 1835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PRPSAP2",
"gene_hgnc_id": 9467,
"hgvs_c": "c.746+8651A>C",
"hgvs_p": null,
"transcript": "NM_001353098.2",
"protein_id": "NP_001340027.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 423,
"cds_start": -4,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PRPSAP2",
"gene_hgnc_id": 9467,
"hgvs_c": "c.584+8651A>C",
"hgvs_p": null,
"transcript": "NM_001353101.2",
"protein_id": "NP_001340030.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 369,
"cds_start": -4,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PRPSAP2",
"gene_hgnc_id": 9467,
"hgvs_c": "c.584+8651A>C",
"hgvs_p": null,
"transcript": "NM_001353102.2",
"protein_id": "NP_001340031.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 369,
"cds_start": -4,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PRPSAP2",
"gene_hgnc_id": 9467,
"hgvs_c": "c.584+8651A>C",
"hgvs_p": null,
"transcript": "NM_001353105.2",
"protein_id": "NP_001340034.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 369,
"cds_start": -4,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PRPSAP2",
"gene_hgnc_id": 9467,
"hgvs_c": "c.584+8651A>C",
"hgvs_p": null,
"transcript": "NM_001353106.2",
"protein_id": "NP_001340035.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 369,
"cds_start": -4,
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"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PRPSAP2",
"gene_hgnc_id": 9467,
"hgvs_c": "c.584+8651A>C",
"hgvs_p": null,
"transcript": "NM_001353107.2",
"protein_id": "NP_001340036.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 369,
"cds_start": -4,
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"cdna_start": null,
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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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PRPSAP2",
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"hgvs_c": "c.464+8651A>C",
"hgvs_p": null,
"transcript": "NM_001243936.2",
"protein_id": "NP_001230865.1",
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 6,
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"gene_symbol": "PRPSAP2",
"gene_hgnc_id": 9467,
"hgvs_c": "c.464+8651A>C",
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"transcript": "ENST00000419071.6",
"protein_id": "ENSP00000392536.2",
"transcript_support_level": 2,
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 8,
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"gene_symbol": "PRPSAP2",
"gene_hgnc_id": 9467,
"hgvs_c": "c.449+8651A>C",
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"transcript": "NM_001353096.1",
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},
{
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],
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"gene_symbol": "PRPSAP2",
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"hgvs_c": "c.449+8651A>C",
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"transcript": "NM_001353097.2",
"protein_id": "NP_001340026.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 8,
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"gene_symbol": "PRPSAP2",
"gene_hgnc_id": 9467,
"hgvs_c": "c.449+8651A>C",
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"transcript": "NM_001353099.2",
"protein_id": "NP_001340028.1",
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},
{
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],
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"gene_symbol": "PRPSAP2",
"gene_hgnc_id": 9467,
"hgvs_c": "c.584+8651A>C",
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"transcript": "NM_001243940.1",
"protein_id": "NP_001230869.1",
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
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"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PRPSAP2",
"gene_hgnc_id": 9467,
"hgvs_c": "c.326+8651A>C",
"hgvs_p": null,
"transcript": "NM_001243941.1",
"protein_id": "NP_001230870.1",
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},
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 7,
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"gene_symbol": "PRPSAP2",
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"hgvs_c": "c.326+8651A>C",
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"transcript": "NM_001243942.1",
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},
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],
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"intron_rank": 8,
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"gene_symbol": "PRPSAP2",
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"protein_id": "NP_001340029.1",
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},
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"strand": true,
"consequences": [
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],
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"gene_symbol": "PRPSAP2",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PRPSAP2",
"gene_hgnc_id": 9467,
"hgvs_c": "c.326+8651A>C",
"hgvs_p": null,
"transcript": "NM_001353104.2",
"protein_id": "NP_001340033.1",
"transcript_support_level": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1767,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PRPSAP2",
"gene_hgnc_id": 9467,
"hgvs_c": "c.326+8651A>C",
"hgvs_p": null,
"transcript": "ENST00000536323.5",
"protein_id": "ENSP00000443967.1",
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"aa_start": null,
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}