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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: 20-46512761-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=46512761&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 46512761,
"ref": "A",
"alt": "T",
"effect": "5_prime_UTR_variant",
"transcript": "ENST00000692313.1",
"consequences": [
{
"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": "ZNF334",
"gene_hgnc_id": 15806,
"hgvs_c": "c.-260T>A",
"hgvs_p": null,
"transcript": "NM_001353824.2",
"protein_id": "NP_001340753.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 680,
"cds_start": -4,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4767,
"mane_select": "ENST00000692313.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"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": "ZNF334",
"gene_hgnc_id": 15806,
"hgvs_c": "c.-260T>A",
"hgvs_p": null,
"transcript": "ENST00000692313.1",
"protein_id": "ENSP00000510334.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 680,
"cds_start": -4,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4767,
"mane_select": "NM_001353824.2",
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF334",
"gene_hgnc_id": 15806,
"hgvs_c": "c.-38-621T>A",
"hgvs_p": null,
"transcript": "ENST00000347606.8",
"protein_id": "ENSP00000255129.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 680,
"cds_start": -4,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF334",
"gene_hgnc_id": 15806,
"hgvs_c": "n.643T>A",
"hgvs_p": null,
"transcript": "XR_007067464.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ZNF334",
"gene_hgnc_id": 15806,
"hgvs_c": "c.-377T>A",
"hgvs_p": null,
"transcript": "NM_001353826.2",
"protein_id": "NP_001340755.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 687,
"cds_start": -4,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF334",
"gene_hgnc_id": 15806,
"hgvs_c": "c.-410T>A",
"hgvs_p": null,
"transcript": "NM_001353822.2",
"protein_id": "NP_001340751.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 679,
"cds_start": -4,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ZNF334",
"gene_hgnc_id": 15806,
"hgvs_c": "c.-351T>A",
"hgvs_p": null,
"transcript": "NM_001353823.2",
"protein_id": "NP_001340752.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 679,
"cds_start": -4,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ZNF334",
"gene_hgnc_id": 15806,
"hgvs_c": "c.-269T>A",
"hgvs_p": null,
"transcript": "NM_001353820.2",
"protein_id": "NP_001340749.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 675,
"cds_start": -4,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ZNF334",
"gene_hgnc_id": 15806,
"hgvs_c": "c.-315T>A",
"hgvs_p": null,
"transcript": "NM_001353814.2",
"protein_id": "NP_001340743.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 642,
"cds_start": -4,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF334",
"gene_hgnc_id": 15806,
"hgvs_c": "c.-673T>A",
"hgvs_p": null,
"transcript": "NM_001353819.2",
"protein_id": "NP_001340748.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 642,
"cds_start": -4,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF334",
"gene_hgnc_id": 15806,
"hgvs_c": "c.-526T>A",
"hgvs_p": null,
"transcript": "NM_199441.3",
"protein_id": "NP_955473.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 642,
"cds_start": -4,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF334",
"gene_hgnc_id": 15806,
"hgvs_c": "c.-526T>A",
"hgvs_p": null,
"transcript": "ENST00000457685.6",
"protein_id": "ENSP00000402582.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 642,
"cds_start": -4,
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"cds_length": 1929,
"cdna_start": null,
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"cdna_length": 3487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ZNF334",
"gene_hgnc_id": 15806,
"hgvs_c": "c.-590T>A",
"hgvs_p": null,
"transcript": "XM_017027937.2",
"protein_id": "XP_016883426.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 703,
"cds_start": -4,
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"cds_length": 2112,
"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"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": "ZNF334",
"gene_hgnc_id": 15806,
"hgvs_c": "c.-3272T>A",
"hgvs_p": null,
"transcript": "XM_047440279.1",
"protein_id": "XP_047296235.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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},
{
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"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": "ZNF334",
"gene_hgnc_id": 15806,
"hgvs_c": "c.-3165T>A",
"hgvs_p": null,
"transcript": "XM_047440280.1",
"protein_id": "XP_047296236.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 687,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"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": "ZNF334",
"gene_hgnc_id": 15806,
"hgvs_c": "c.-3139T>A",
"hgvs_p": null,
"transcript": "XM_047440282.1",
"protein_id": "XP_047296238.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
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"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF334",
"gene_hgnc_id": 15806,
"hgvs_c": "c.-4968T>A",
"hgvs_p": null,
"transcript": "XM_047440283.1",
"protein_id": "XP_047296239.1",
"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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"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": "ZNF334",
"gene_hgnc_id": 15806,
"hgvs_c": "c.-3402T>A",
"hgvs_p": null,
"transcript": "XM_047440284.1",
"protein_id": "XP_047296240.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 642,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 7638,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF334",
"gene_hgnc_id": 15806,
"hgvs_c": "c.-321-621T>A",
"hgvs_p": null,
"transcript": "NM_001353825.2",
"protein_id": "NP_001340754.1",
"transcript_support_level": null,
"aa_start": null,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF334",
"gene_hgnc_id": 15806,
"hgvs_c": "c.-38-621T>A",
"hgvs_p": null,
"transcript": "NM_018102.6",
"protein_id": "NP_060572.3",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 680,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF334",
"gene_hgnc_id": 15806,
"hgvs_c": "c.-188-621T>A",
"hgvs_p": null,
"transcript": "NM_001270497.3",
"protein_id": "NP_001257426.1",
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"biotype": null,
"feature": null
},
{
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"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": "ZNF334",
"gene_hgnc_id": 15806,
"hgvs_c": "c.-188-621T>A",
"hgvs_p": null,
"transcript": "NM_001353821.2",
"protein_id": "NP_001340750.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 679,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF334",
"gene_hgnc_id": 15806,
"hgvs_c": "c.-188-621T>A",
"hgvs_p": null,
"transcript": "ENST00000625284.2",
"protein_id": "ENSP00000485779.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 679,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2495,
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],
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{
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"verdict": "Likely_benign",
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}
],
"message": null
}