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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: 5-96897102-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=96897102&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 96897102,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000437043.8",
"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": 19,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ERAP2",
"gene_hgnc_id": 29499,
"hgvs_c": "c.1503+239C>T",
"hgvs_p": null,
"transcript": "NM_022350.5",
"protein_id": "NP_071745.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 960,
"cds_start": -4,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5131,
"mane_select": "ENST00000437043.8",
"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": 19,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ERAP2",
"gene_hgnc_id": 29499,
"hgvs_c": "c.1503+239C>T",
"hgvs_p": null,
"transcript": "ENST00000437043.8",
"protein_id": "ENSP00000400376.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 960,
"cds_start": -4,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5131,
"mane_select": "NM_022350.5",
"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": 18,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ERAP2",
"gene_hgnc_id": 29499,
"hgvs_c": "c.1368+239C>T",
"hgvs_p": null,
"transcript": "ENST00000379904.8",
"protein_id": "ENSP00000369235.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 915,
"cds_start": -4,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3219,
"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": 19,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ERAP2",
"gene_hgnc_id": 29499,
"hgvs_c": "c.1503+239C>T",
"hgvs_p": null,
"transcript": "NM_001130140.3",
"protein_id": "NP_001123612.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 960,
"cds_start": -4,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5223,
"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": 19,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ERAP2",
"gene_hgnc_id": 29499,
"hgvs_c": "c.1503+239C>T",
"hgvs_p": null,
"transcript": "ENST00000510373.6",
"protein_id": "ENSP00000421175.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 960,
"cds_start": -4,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5208,
"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": 18,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ERAP2",
"gene_hgnc_id": 29499,
"hgvs_c": "c.1503+239C>T",
"hgvs_p": null,
"transcript": "NM_001437802.1",
"protein_id": "NP_001424731.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 937,
"cds_start": -4,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5591,
"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": 18,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ERAP2",
"gene_hgnc_id": 29499,
"hgvs_c": "c.1503+239C>T",
"hgvs_p": null,
"transcript": "NM_001438758.1",
"protein_id": "NP_001425687.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 937,
"cds_start": -4,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5154,
"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": 18,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ERAP2",
"gene_hgnc_id": 29499,
"hgvs_c": "c.1503+239C>T",
"hgvs_p": null,
"transcript": "ENST00000714228.1",
"protein_id": "ENSP00000519508.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 937,
"cds_start": -4,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5062,
"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": 18,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ERAP2",
"gene_hgnc_id": 29499,
"hgvs_c": "c.1371+239C>T",
"hgvs_p": null,
"transcript": "ENST00000508077.2",
"protein_id": "ENSP00000427573.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 916,
"cds_start": -4,
"cds_end": null,
"cds_length": 2751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4999,
"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": 18,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ERAP2",
"gene_hgnc_id": 29499,
"hgvs_c": "c.1368+239C>T",
"hgvs_p": null,
"transcript": "NM_001329229.2",
"protein_id": "NP_001316158.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 915,
"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": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000247121",
"gene_hgnc_id": null,
"hgvs_c": "n.1689-23724G>A",
"hgvs_p": null,
"transcript": "ENST00000501338.6",
"protein_id": null,
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"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": true,
"consequences": [
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],
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"exon_count": 19,
"intron_rank": 9,
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"gene_symbol": "ERAP2",
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"hgvs_c": "n.1503+239C>T",
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"transcript": "ENST00000513084.5",
"protein_id": "ENSP00000421849.1",
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},
{
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"strand": true,
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],
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"exon_count": 2,
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"gene_symbol": "ERAP2",
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"transcript": "ENST00000513368.1",
"protein_id": null,
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},
{
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],
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"gene_symbol": "ERAP2",
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},
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],
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},
{
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"strand": false,
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],
"exon_rank": null,
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"gene_symbol": "ENSG00000247121",
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},
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],
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},
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],
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"gene_symbol": "ENSG00000247121",
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},
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],
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"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "ENSG00000247121",
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],
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],
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],
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"gene_symbol": "ENSG00000247121",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
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"gene_symbol": "ENSG00000247121",
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"hgvs_c": "n.819-23430G>A",
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"transcript": "ENST00000665723.1",
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},
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"consequences": [
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}