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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: 3-188162659-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=188162659&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 188162659,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_001375462.1",
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LPP",
"gene_hgnc_id": 6679,
"hgvs_c": "c.-190+8407T>G",
"hgvs_p": null,
"transcript": "NM_001375462.1",
"protein_id": "NP_001362391.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 612,
"cds_start": -4,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 18316,
"mane_select": "ENST00000617246.5",
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LPP",
"gene_hgnc_id": 6679,
"hgvs_c": "c.-190+8407T>G",
"hgvs_p": null,
"transcript": "ENST00000617246.5",
"protein_id": "ENSP00000478901.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 612,
"cds_start": -4,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 18316,
"mane_select": "NM_001375462.1",
"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": "LPP",
"gene_hgnc_id": 6679,
"hgvs_c": "c.-190+8638T>G",
"hgvs_p": null,
"transcript": "NM_001167671.3",
"protein_id": "NP_001161143.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 612,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 18344,
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LPP",
"gene_hgnc_id": 6679,
"hgvs_c": "c.-133+9296T>G",
"hgvs_p": null,
"transcript": "NM_001375455.1",
"protein_id": "NP_001362384.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 612,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 18506,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"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": 1,
"intron_rank_end": null,
"gene_symbol": "LPP",
"gene_hgnc_id": 6679,
"hgvs_c": "c.-129+9296T>G",
"hgvs_p": null,
"transcript": "NM_001375456.1",
"protein_id": "NP_001362385.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"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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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
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"intron_rank": 1,
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"gene_symbol": "LPP",
"gene_hgnc_id": 6679,
"hgvs_c": "c.-252+9296T>G",
"hgvs_p": null,
"transcript": "NM_001375457.1",
"protein_id": "NP_001362386.1",
"transcript_support_level": null,
"aa_start": null,
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},
{
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],
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"transcript": "NM_001375458.1",
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},
{
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"consequences": [
"intron_variant"
],
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"gene_symbol": "LPP",
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"hgvs_c": "c.-67+8638T>G",
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"transcript": "NM_001375459.1",
"protein_id": "NP_001362388.1",
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},
{
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"consequences": [
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],
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}
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}