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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: 20-45904471-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=45904471&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 45904471,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_006227.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.942+329T>C",
"hgvs_p": null,
"transcript": "NM_006227.4",
"protein_id": "NP_006218.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 493,
"cds_start": null,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372431.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006227.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.942+329T>C",
"hgvs_p": null,
"transcript": "ENST00000372431.8",
"protein_id": "ENSP00000361508.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 493,
"cds_start": null,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006227.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372431.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.942+329T>C",
"hgvs_p": null,
"transcript": "ENST00000477313.5",
"protein_id": "ENSP00000417138.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 493,
"cds_start": null,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000477313.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.786+329T>C",
"hgvs_p": null,
"transcript": "ENST00000354050.8",
"protein_id": "ENSP00000335290.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 441,
"cds_start": null,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354050.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1026+86T>C",
"hgvs_p": null,
"transcript": "ENST00000932732.1",
"protein_id": "ENSP00000602791.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 521,
"cds_start": null,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932732.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.990+329T>C",
"hgvs_p": null,
"transcript": "ENST00000958186.1",
"protein_id": "ENSP00000628245.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 509,
"cds_start": null,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958186.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.957+329T>C",
"hgvs_p": null,
"transcript": "ENST00000958185.1",
"protein_id": "ENSP00000628244.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 498,
"cds_start": null,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958185.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.942+329T>C",
"hgvs_p": null,
"transcript": "ENST00000958184.1",
"protein_id": "ENSP00000628243.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 493,
"cds_start": null,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958184.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.942+329T>C",
"hgvs_p": null,
"transcript": "ENST00000958190.1",
"protein_id": "ENSP00000628249.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 493,
"cds_start": null,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958190.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.942+329T>C",
"hgvs_p": null,
"transcript": "ENST00000867284.1",
"protein_id": "ENSP00000537343.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 488,
"cds_start": null,
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"cds_length": 1467,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867284.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.942+329T>C",
"hgvs_p": null,
"transcript": "ENST00000958188.1",
"protein_id": "ENSP00000628247.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 488,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958188.1"
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
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"gene_symbol": "PLTP",
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"hgvs_c": "c.942+329T>C",
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"transcript": "ENST00000932731.1",
"protein_id": "ENSP00000602790.1",
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"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000932731.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PLTP",
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"hgvs_c": "c.882+471T>C",
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"transcript": "ENST00000958187.1",
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"cds_start": null,
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.942+329T>C",
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"transcript": "ENST00000932736.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.786+329T>C",
"hgvs_p": null,
"transcript": "NM_182676.3",
"protein_id": "NP_872617.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_182676.3"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PLTP",
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"hgvs_c": "c.786+329T>C",
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"transcript": "ENST00000867287.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.786+329T>C",
"hgvs_p": null,
"transcript": "ENST00000867289.1",
"protein_id": "ENSP00000537348.1",
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"feature": "ENST00000867289.1"
},
{
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.942+329T>C",
"hgvs_p": null,
"transcript": "ENST00000867286.1",
"protein_id": "ENSP00000537345.1",
"transcript_support_level": null,
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"cds_start": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 9,
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"gene_symbol": "PLTP",
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"hgvs_c": "c.786+329T>C",
"hgvs_p": null,
"transcript": "ENST00000932735.1",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PLTP",
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},
{
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],
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"biotype": "protein_coding",
"feature": "ENST00000867285.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.678+329T>C",
"hgvs_p": null,
"transcript": "NM_001242921.1",
"protein_id": "NP_001229850.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 405,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001242921.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 8,
"intron_rank_end": null,
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{
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}
],
"message": null
}