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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: 2-189784079-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=189784079&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 189784079,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001371385.1",
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ORMDL1",
"gene_hgnc_id": 16036,
"hgvs_c": "c.-118+190C>T",
"hgvs_p": null,
"transcript": "NM_016467.5",
"protein_id": "NP_057551.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 153,
"cds_start": null,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000392349.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016467.5"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ORMDL1",
"gene_hgnc_id": 16036,
"hgvs_c": "c.-118+190C>T",
"hgvs_p": null,
"transcript": "ENST00000392349.9",
"protein_id": "ENSP00000376160.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 153,
"cds_start": null,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016467.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392349.9"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ORMDL1",
"gene_hgnc_id": 16036,
"hgvs_c": "c.-8+190C>T",
"hgvs_p": null,
"transcript": "ENST00000392350.7",
"protein_id": "ENSP00000376161.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 153,
"cds_start": null,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392350.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORMDL1",
"gene_hgnc_id": 16036,
"hgvs_c": "c.-597C>T",
"hgvs_p": null,
"transcript": "ENST00000853749.1",
"protein_id": "ENSP00000523808.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 153,
"cds_start": null,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853749.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORMDL1",
"gene_hgnc_id": 16036,
"hgvs_c": "c.-1407C>T",
"hgvs_p": null,
"transcript": "ENST00000853757.1",
"protein_id": "ENSP00000523816.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 153,
"cds_start": null,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853757.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORMDL1",
"gene_hgnc_id": 16036,
"hgvs_c": "c.-494C>T",
"hgvs_p": null,
"transcript": "ENST00000853758.1",
"protein_id": "ENSP00000523817.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 153,
"cds_start": null,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853758.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORMDL1",
"gene_hgnc_id": 16036,
"hgvs_c": "c.-1484C>T",
"hgvs_p": null,
"transcript": "ENST00000853754.1",
"protein_id": "ENSP00000523813.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 107,
"cds_start": null,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853754.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORMDL1",
"gene_hgnc_id": 16036,
"hgvs_c": "c.-1073C>T",
"hgvs_p": null,
"transcript": "ENST00000853756.1",
"protein_id": "ENSP00000523815.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 107,
"cds_start": null,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853756.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORMDL1",
"gene_hgnc_id": 16036,
"hgvs_c": "c.-1073C>T",
"hgvs_p": null,
"transcript": "XM_047446425.1",
"protein_id": "XP_047302381.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 153,
"cds_start": null,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446425.1"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ORMDL1",
"gene_hgnc_id": 16036,
"hgvs_c": "c.-8+190C>T",
"hgvs_p": null,
"transcript": "NM_001371385.1",
"protein_id": "NP_001358314.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 158,
"cds_start": null,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371385.1"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ORMDL1",
"gene_hgnc_id": 16036,
"hgvs_c": "c.-118+190C>T",
"hgvs_p": null,
"transcript": "NM_001371386.1",
"protein_id": "NP_001358315.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 158,
"cds_start": null,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371386.1"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ORMDL1",
"gene_hgnc_id": 16036,
"hgvs_c": "c.-118+190C>T",
"hgvs_p": null,
"transcript": "ENST00000850615.1",
"protein_id": "ENSP00000520902.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 158,
"cds_start": null,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000850615.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ORMDL1",
"gene_hgnc_id": 16036,
"hgvs_c": "c.-8+190C>T",
"hgvs_p": null,
"transcript": "NM_001128150.2",
"protein_id": "NP_001121622.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 153,
"cds_start": null,
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"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128150.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ORMDL1",
"gene_hgnc_id": 16036,
"hgvs_c": "c.-8+190C>T",
"hgvs_p": null,
"transcript": "NM_001371384.1",
"protein_id": "NP_001358313.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371384.1"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ORMDL1",
"gene_hgnc_id": 16036,
"hgvs_c": "c.-397+190C>T",
"hgvs_p": null,
"transcript": "ENST00000853746.1",
"protein_id": "ENSP00000523805.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 153,
"cds_start": null,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853746.1"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ORMDL1",
"gene_hgnc_id": 16036,
"hgvs_c": "c.-118+144C>T",
"hgvs_p": null,
"transcript": "ENST00000853747.1",
"protein_id": "ENSP00000523806.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853747.1"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ORMDL1",
"gene_hgnc_id": 16036,
"hgvs_c": "c.-231+190C>T",
"hgvs_p": null,
"transcript": "ENST00000853753.1",
"protein_id": "ENSP00000523812.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 153,
"cds_start": null,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853753.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ORMDL1",
"gene_hgnc_id": 16036,
"hgvs_c": "c.-8+144C>T",
"hgvs_p": null,
"transcript": "ENST00000853755.1",
"protein_id": "ENSP00000523814.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 153,
"cds_start": null,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853755.1"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ORMDL1",
"gene_hgnc_id": 16036,
"hgvs_c": "c.-231+144C>T",
"hgvs_p": null,
"transcript": "ENST00000853759.1",
"protein_id": "ENSP00000523818.1",
"transcript_support_level": null,
"aa_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853759.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ORMDL1",
"gene_hgnc_id": 16036,
"hgvs_c": "c.-6+190C>T",
"hgvs_p": null,
"transcript": "ENST00000921292.1",
"protein_id": "ENSP00000591351.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921292.1"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ORMDL1",
"gene_hgnc_id": 16036,
"hgvs_c": "c.-397+144C>T",
"hgvs_p": null,
"transcript": "ENST00000921293.1",
"protein_id": "ENSP00000591352.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 153,
"cds_start": null,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921293.1"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ORMDL1",
"gene_hgnc_id": 16036,
"hgvs_c": "c.-343+190C>T",
"hgvs_p": null,
"transcript": "ENST00000921297.1",
"protein_id": "ENSP00000591356.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 153,
"cds_start": null,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921297.1"
},
{
"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": 6,
"intron_rank": 1,
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}