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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: 8-17032501-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=17032501&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 17032501,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000318063.10",
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MICU3",
"gene_hgnc_id": 27820,
"hgvs_c": "c.381+4841T>C",
"hgvs_p": null,
"transcript": "NM_181723.3",
"protein_id": "NP_859074.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 530,
"cds_start": -4,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3990,
"mane_select": "ENST00000318063.10",
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MICU3",
"gene_hgnc_id": 27820,
"hgvs_c": "c.381+4841T>C",
"hgvs_p": null,
"transcript": "ENST00000318063.10",
"protein_id": "ENSP00000321455.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 530,
"cds_start": -4,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3990,
"mane_select": "NM_181723.3",
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MICU3",
"gene_hgnc_id": 27820,
"hgvs_c": "c.381+4841T>C",
"hgvs_p": null,
"transcript": "NM_001349810.2",
"protein_id": "NP_001336739.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 524,
"cds_start": -4,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3972,
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MICU3",
"gene_hgnc_id": 27820,
"hgvs_c": "c.381+4841T>C",
"hgvs_p": null,
"transcript": "NM_001413217.1",
"protein_id": "NP_001400146.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 517,
"cds_start": -4,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3951,
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MICU3",
"gene_hgnc_id": 27820,
"hgvs_c": "c.381+4841T>C",
"hgvs_p": null,
"transcript": "ENST00000519044.6",
"protein_id": "ENSP00000427765.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 517,
"cds_start": -4,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7171,
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MICU3",
"gene_hgnc_id": 27820,
"hgvs_c": "c.381+4841T>C",
"hgvs_p": null,
"transcript": "NM_001413223.1",
"protein_id": "NP_001400152.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 514,
"cds_start": -4,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3942,
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MICU3",
"gene_hgnc_id": 27820,
"hgvs_c": "c.381+4841T>C",
"hgvs_p": null,
"transcript": "NM_001413218.1",
"protein_id": "NP_001400147.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 498,
"cds_start": -4,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3894,
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MICU3",
"gene_hgnc_id": 27820,
"hgvs_c": "c.381+4841T>C",
"hgvs_p": null,
"transcript": "NM_001413219.1",
"protein_id": "NP_001400148.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 485,
"cds_start": -4,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3855,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "MICU3",
"gene_hgnc_id": 27820,
"hgvs_c": "c.381+4841T>C",
"hgvs_p": null,
"transcript": "NM_001413226.1",
"protein_id": "NP_001400155.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 477,
"cds_start": -4,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MICU3",
"gene_hgnc_id": 27820,
"hgvs_c": "c.381+4841T>C",
"hgvs_p": null,
"transcript": "NM_001413222.1",
"protein_id": "NP_001400151.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 468,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MICU3",
"gene_hgnc_id": 27820,
"hgvs_c": "c.381+4841T>C",
"hgvs_p": null,
"transcript": "NM_001413225.1",
"protein_id": "NP_001400154.1",
"transcript_support_level": null,
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"cds_start": -4,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "MICU3",
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"transcript": "NM_001413224.1",
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},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "MICU3",
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"hgvs_c": "c.-116+4841T>C",
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"transcript": "NM_001413221.1",
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},
{
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"strand": true,
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],
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"gene_symbol": "MICU3",
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"hgvs_c": "n.83+4841T>C",
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"transcript": "ENST00000522235.5",
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},
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],
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"gene_symbol": "MICU3",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "MICU3",
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"hgvs_c": "n.423+4841T>C",
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},
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],
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},
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"strand": true,
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],
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"intron_rank": 1,
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"gene_symbol": "MICU3",
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"hgvs_c": "n.423+4841T>C",
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},
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],
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"exon_count": 14,
"intron_rank": 1,
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"gene_symbol": "MICU3",
"gene_hgnc_id": 27820,
"hgvs_c": "c.381+4841T>C",
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"transcript": "XM_017013336.2",
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],
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],
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},
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],
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"gene_symbol": "MICU3",
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"hgvs_c": "c.381+4841T>C",
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"transcript": "XM_017013339.2",
"protein_id": "XP_016868828.1",
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"feature": null
},
{
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"protein_coding": true,
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 1,
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"gene_symbol": "MICU3",
"gene_hgnc_id": 27820,
"hgvs_c": "c.381+4841T>C",
"hgvs_p": null,
"transcript": "XM_047421707.1",
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},
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