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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: 4-90480460-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=90480460&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 90480460,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000509176.6",
"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": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CCSER1",
"gene_hgnc_id": 29349,
"hgvs_c": "c.1724+12106C>T",
"hgvs_p": null,
"transcript": "NM_001145065.2",
"protein_id": "NP_001138537.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 900,
"cds_start": -4,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9420,
"mane_select": "ENST00000509176.6",
"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": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CCSER1",
"gene_hgnc_id": 29349,
"hgvs_c": "c.1724+12106C>T",
"hgvs_p": null,
"transcript": "ENST00000509176.6",
"protein_id": "ENSP00000425040.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 900,
"cds_start": -4,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9420,
"mane_select": "NM_001145065.2",
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CCSER1",
"gene_hgnc_id": 29349,
"hgvs_c": "c.1724+12106C>T",
"hgvs_p": null,
"transcript": "ENST00000432775.6",
"protein_id": "ENSP00000389283.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 677,
"cds_start": -4,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3927,
"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": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CCSER1",
"gene_hgnc_id": 29349,
"hgvs_c": "n.1724+12106C>T",
"hgvs_p": null,
"transcript": "ENST00000505073.5",
"protein_id": "ENSP00000420964.1",
"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": 2684,
"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": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CCSER1",
"gene_hgnc_id": 29349,
"hgvs_c": "c.1724+12106C>T",
"hgvs_p": null,
"transcript": "NM_001377987.1",
"protein_id": "NP_001364916.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 743,
"cds_start": -4,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3786,
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CCSER1",
"gene_hgnc_id": 29349,
"hgvs_c": "c.1724+12106C>T",
"hgvs_p": null,
"transcript": "NM_207491.2",
"protein_id": "NP_997374.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 677,
"cds_start": -4,
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"cds_length": 2034,
"cdna_start": null,
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"cdna_length": 3927,
"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,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CCSER1",
"gene_hgnc_id": 29349,
"hgvs_c": "c.1820+12106C>T",
"hgvs_p": null,
"transcript": "XM_011531936.2",
"protein_id": "XP_011530238.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"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": 6,
"intron_rank_end": null,
"gene_symbol": "CCSER1",
"gene_hgnc_id": 29349,
"hgvs_c": "c.1820+12106C>T",
"hgvs_p": null,
"transcript": "XM_011531937.3",
"protein_id": "XP_011530239.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 932,
"cds_start": -4,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9391,
"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": 6,
"intron_rank_end": null,
"gene_symbol": "CCSER1",
"gene_hgnc_id": 29349,
"hgvs_c": "c.1820+12106C>T",
"hgvs_p": null,
"transcript": "XM_011531938.3",
"protein_id": "XP_011530240.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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},
{
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"strand": true,
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"intron_variant"
],
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"gene_symbol": "CCSER1",
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"hgvs_c": "c.1820+12106C>T",
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"transcript": "XM_011531939.3",
"protein_id": "XP_011530241.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "CCSER1",
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{
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],
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],
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],
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],
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],
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],
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