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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: 12-89697090-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=89697090&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 89697090,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000428670.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATP2B1",
"gene_hgnc_id": 814,
"hgvs_c": "c.-222+11506T>A",
"hgvs_p": null,
"transcript": "NM_001366521.1",
"protein_id": "NP_001353450.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1220,
"cds_start": -4,
"cds_end": null,
"cds_length": 3663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7062,
"mane_select": "ENST00000428670.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATP2B1",
"gene_hgnc_id": 814,
"hgvs_c": "c.-222+11506T>A",
"hgvs_p": null,
"transcript": "ENST00000428670.8",
"protein_id": "ENSP00000392043.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1220,
"cds_start": -4,
"cds_end": null,
"cds_length": 3663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7062,
"mane_select": "NM_001366521.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATP2B1",
"gene_hgnc_id": 814,
"hgvs_c": "c.-222+12129T>A",
"hgvs_p": null,
"transcript": "NM_001366524.1",
"protein_id": "NP_001353453.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1249,
"cds_start": -4,
"cds_end": null,
"cds_length": 3750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATP2B1",
"gene_hgnc_id": 814,
"hgvs_c": "c.-222+11506T>A",
"hgvs_p": null,
"transcript": "NM_001366525.1",
"protein_id": "NP_001353454.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1249,
"cds_start": -4,
"cds_end": null,
"cds_length": 3750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATP2B1",
"gene_hgnc_id": 814,
"hgvs_c": "c.-417+12129T>A",
"hgvs_p": null,
"transcript": "NM_001366520.1",
"protein_id": "NP_001353449.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1220,
"cds_start": -4,
"cds_end": null,
"cds_length": 3663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATP2B1",
"gene_hgnc_id": 814,
"hgvs_c": "c.-222+11304T>A",
"hgvs_p": null,
"transcript": "NM_001366522.1",
"protein_id": "NP_001353451.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1220,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 7264,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATP2B1",
"gene_hgnc_id": 814,
"hgvs_c": "c.-417+11506T>A",
"hgvs_p": null,
"transcript": "NM_001413046.1",
"protein_id": "NP_001399975.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1220,
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"cdna_start": null,
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"cdna_length": 7257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATP2B1",
"gene_hgnc_id": 814,
"hgvs_c": "c.-325+12129T>A",
"hgvs_p": null,
"transcript": "NM_001413047.1",
"protein_id": "NP_001399976.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1220,
"cds_start": -4,
"cds_end": null,
"cds_length": 3663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATP2B1",
"gene_hgnc_id": 814,
"hgvs_c": "c.-222+12129T>A",
"hgvs_p": null,
"transcript": "NM_001682.3",
"protein_id": "NP_001673.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1220,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 6967,
"mane_select": null,
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"feature": null
},
{
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"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "ATP2B1",
"gene_hgnc_id": 814,
"hgvs_c": "c.-222+12129T>A",
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"transcript": "NM_001413048.1",
"protein_id": "NP_001399977.1",
"transcript_support_level": null,
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "ATP2B1",
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"hgvs_c": "c.-222+11506T>A",
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],
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},
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],
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"gene_symbol": "ATP2B1",
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},
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],
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"gene_symbol": "ATP2B1",
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"transcript": "ENST00000359142.8",
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},
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],
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},
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],
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"gene_symbol": "ATP2B1",
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"transcript": "NM_001413053.1",
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},
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"consequences": [
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],
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"gene_symbol": "ATP2B1",
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"hgvs_c": "c.-222+12129T>A",
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