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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: 10-102134948-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=102134948&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 102134948,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000278070.7",
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPRC1",
"gene_hgnc_id": 30025,
"hgvs_c": "c.153+1727G>A",
"hgvs_p": null,
"transcript": "NM_015062.5",
"protein_id": "NP_055877.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1664,
"cds_start": -4,
"cds_end": null,
"cds_length": 4995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5328,
"mane_select": "ENST00000278070.7",
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPRC1",
"gene_hgnc_id": 30025,
"hgvs_c": "c.153+1727G>A",
"hgvs_p": null,
"transcript": "ENST00000278070.7",
"protein_id": "ENSP00000278070.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1664,
"cds_start": -4,
"cds_end": null,
"cds_length": 4995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5328,
"mane_select": "NM_015062.5",
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPRC1",
"gene_hgnc_id": 30025,
"hgvs_c": "c.-107+1727G>A",
"hgvs_p": null,
"transcript": "NM_001288728.2",
"protein_id": "NP_001275657.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1542,
"cds_start": -4,
"cds_end": null,
"cds_length": 4629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5221,
"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": "PPRC1",
"gene_hgnc_id": 30025,
"hgvs_c": "c.153+1727G>A",
"hgvs_p": null,
"transcript": "NM_001288727.2",
"protein_id": "NP_001275656.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1400,
"cds_start": -4,
"cds_end": null,
"cds_length": 4203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4536,
"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": "PPRC1",
"gene_hgnc_id": 30025,
"hgvs_c": "c.153+1727G>A",
"hgvs_p": null,
"transcript": "ENST00000413464.6",
"protein_id": "ENSP00000399743.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1400,
"cds_start": -4,
"cds_end": null,
"cds_length": 4203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4580,
"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": "PPRC1",
"gene_hgnc_id": 30025,
"hgvs_c": "c.312+1568G>A",
"hgvs_p": null,
"transcript": "XM_024447915.2",
"protein_id": "XP_024303683.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1717,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5487,
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPRC1",
"gene_hgnc_id": 30025,
"hgvs_c": "c.153+1727G>A",
"hgvs_p": null,
"transcript": "XM_017015982.2",
"protein_id": "XP_016871471.1",
"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
},
{
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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": 1,
"intron_rank_end": null,
"gene_symbol": "PPRC1",
"gene_hgnc_id": 30025,
"hgvs_c": "c.153+1727G>A",
"hgvs_p": null,
"transcript": "XM_011539549.3",
"protein_id": "XP_011537851.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1621,
"cds_start": -4,
"cds_end": null,
"cds_length": 4866,
"cdna_start": null,
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"cdna_length": 5199,
"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": 1,
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"gene_symbol": "PPRC1",
"gene_hgnc_id": 30025,
"hgvs_c": "c.153+1727G>A",
"hgvs_p": null,
"transcript": "XM_047424876.1",
"protein_id": "XP_047280832.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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},
{
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"intron_variant"
],
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"gene_symbol": "PPRC1",
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"hgvs_c": "c.153+1727G>A",
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"transcript": "XM_017015983.2",
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},
{
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"consequences": [
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],
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"gene_symbol": "PPRC1",
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],
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],
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],
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}
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}