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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: 6-143940343-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=143940343&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 143940343,
"ref": "C",
"alt": "T",
"effect": "3_prime_UTR_variant",
"transcript": "ENST00000674357.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAGL1",
"gene_hgnc_id": 9046,
"hgvs_c": "c.*1081G>A",
"hgvs_p": null,
"transcript": "NM_001317162.2",
"protein_id": "NP_001304091.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 463,
"cds_start": -4,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3269,
"mane_select": "ENST00000674357.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAGL1",
"gene_hgnc_id": 9046,
"hgvs_c": "c.*1081G>A",
"hgvs_p": null,
"transcript": "ENST00000674357.1",
"protein_id": "ENSP00000501459.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 463,
"cds_start": -4,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3269,
"mane_select": "NM_001317162.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAGL1",
"gene_hgnc_id": 9046,
"hgvs_c": "c.*1081G>A",
"hgvs_p": null,
"transcript": "ENST00000354765.6",
"protein_id": "ENSP00000346810.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 463,
"cds_start": -4,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAGL1",
"gene_hgnc_id": 9046,
"hgvs_c": "c.*1081G>A",
"hgvs_p": null,
"transcript": "ENST00000416623.5",
"protein_id": "ENSP00000400060.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 463,
"cds_start": -4,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAGL1",
"gene_hgnc_id": 9046,
"hgvs_c": "c.*1081G>A",
"hgvs_p": null,
"transcript": "ENST00000444202.5",
"protein_id": "ENSP00000400929.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 463,
"cds_start": -4,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAGL1",
"gene_hgnc_id": 9046,
"hgvs_c": "c.*1081G>A",
"hgvs_p": null,
"transcript": "ENST00000367572.3",
"protein_id": "ENSP00000356544.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 411,
"cds_start": -4,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
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"cdna_length": 2496,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "PLAGL1",
"gene_hgnc_id": 9046,
"hgvs_c": "c.*1081G>A",
"hgvs_p": null,
"transcript": "ENST00000437412.5",
"protein_id": "ENSP00000392418.1",
"transcript_support_level": 1,
"aa_start": null,
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"aa_length": 411,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2640,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAGL1",
"gene_hgnc_id": 9046,
"hgvs_c": "c.*1081G>A",
"hgvs_p": null,
"transcript": "NM_001080951.3",
"protein_id": "NP_001074420.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 463,
"cds_start": -4,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "PLAGL1",
"gene_hgnc_id": 9046,
"hgvs_c": "c.*1081G>A",
"hgvs_p": null,
"transcript": "NM_001080952.3",
"protein_id": "NP_001074421.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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},
{
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"3_prime_UTR_variant"
],
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"gene_symbol": "PLAGL1",
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},
{
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"consequences": [
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],
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"gene_symbol": "PLAGL1",
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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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],
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},
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},
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},
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],
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"gene_symbol": "PLAGL1",
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},
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],
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