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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: 12-54182016-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=54182016&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 54182016,
"ref": "C",
"alt": "A",
"effect": "3_prime_UTR_variant",
"transcript": "ENST00000682136.1",
"consequences": [
{
"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": "SMUG1",
"gene_hgnc_id": 17148,
"hgvs_c": "c.*80G>T",
"hgvs_p": null,
"transcript": "NM_001243787.2",
"protein_id": "NP_001230716.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 270,
"cds_start": -4,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2681,
"mane_select": "ENST00000682136.1",
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMUG1",
"gene_hgnc_id": 17148,
"hgvs_c": "c.*80G>T",
"hgvs_p": null,
"transcript": "ENST00000682136.1",
"protein_id": "ENSP00000507590.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 270,
"cds_start": -4,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2681,
"mane_select": "NM_001243787.2",
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SMUG1",
"gene_hgnc_id": 17148,
"hgvs_c": "c.406-369G>T",
"hgvs_p": null,
"transcript": "ENST00000243112.9",
"protein_id": "ENSP00000243112.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 177,
"cds_start": -4,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 627,
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SMUG1",
"gene_hgnc_id": 17148,
"hgvs_c": "c.406-369G>T",
"hgvs_p": null,
"transcript": "ENST00000513838.5",
"protein_id": "ENSP00000423629.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 177,
"cds_start": -4,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2119,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SMUG1",
"gene_hgnc_id": 17148,
"hgvs_c": "c.406-369G>T",
"hgvs_p": null,
"transcript": "ENST00000514685.5",
"protein_id": "ENSP00000421139.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 177,
"cds_start": -4,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 926,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMUG1",
"gene_hgnc_id": 17148,
"hgvs_c": "n.891G>T",
"hgvs_p": null,
"transcript": "ENST00000505662.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 1422,
"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": "SMUG1",
"gene_hgnc_id": 17148,
"hgvs_c": "c.*80G>T",
"hgvs_p": null,
"transcript": "NM_001243788.2",
"protein_id": "NP_001230717.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 270,
"cds_start": -4,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2597,
"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": "SMUG1",
"gene_hgnc_id": 17148,
"hgvs_c": "c.*80G>T",
"hgvs_p": null,
"transcript": "NM_001351242.2",
"protein_id": "NP_001338171.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 270,
"cds_start": -4,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2716,
"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": "SMUG1",
"gene_hgnc_id": 17148,
"hgvs_c": "c.*80G>T",
"hgvs_p": null,
"transcript": "NM_001351243.2",
"protein_id": "NP_001338172.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 270,
"cds_start": -4,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2683,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMUG1",
"gene_hgnc_id": 17148,
"hgvs_c": "c.*80G>T",
"hgvs_p": null,
"transcript": "NM_001351244.2",
"protein_id": "NP_001338173.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 270,
"cds_start": -4,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3016,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMUG1",
"gene_hgnc_id": 17148,
"hgvs_c": "c.*80G>T",
"hgvs_p": null,
"transcript": "NM_001351245.2",
"protein_id": "NP_001338174.1",
"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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"cdna_length": 2934,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMUG1",
"gene_hgnc_id": 17148,
"hgvs_c": "c.*80G>T",
"hgvs_p": null,
"transcript": "NM_001351246.2",
"protein_id": "NP_001338175.1",
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"aa_start": null,
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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": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMUG1",
"gene_hgnc_id": 17148,
"hgvs_c": "c.*80G>T",
"hgvs_p": null,
"transcript": "NM_001351247.2",
"protein_id": "NP_001338176.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"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": "SMUG1",
"gene_hgnc_id": 17148,
"hgvs_c": "c.*80G>T",
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"transcript": "NM_001351248.2",
"protein_id": "NP_001338177.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
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"intron_rank": null,
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"gene_symbol": "SMUG1",
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"hgvs_c": "c.*80G>T",
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"transcript": "NM_001351249.2",
"protein_id": "NP_001338178.1",
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"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"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": "SMUG1",
"gene_hgnc_id": 17148,
"hgvs_c": "c.*80G>T",
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"transcript": "NM_001351250.2",
"protein_id": "NP_001338179.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 4,
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"intron_rank": null,
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"gene_symbol": "SMUG1",
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"hgvs_c": "c.*80G>T",
"hgvs_p": null,
"transcript": "NM_001351251.2",
"protein_id": "NP_001338180.1",
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"feature": null
},
{
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"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": "SMUG1",
"gene_hgnc_id": 17148,
"hgvs_c": "c.*80G>T",
"hgvs_p": null,
"transcript": "NM_001351252.2",
"protein_id": "NP_001338181.1",
"transcript_support_level": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
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},
{
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"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": "SMUG1",
"gene_hgnc_id": 17148,
"hgvs_c": "c.*80G>T",
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"transcript": "NM_001351253.2",
"protein_id": "NP_001338182.1",
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},
{
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"strand": false,
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],
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"exon_count": 4,
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"gene_symbol": "SMUG1",
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"hgvs_c": "c.*80G>T",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "SMUG1",
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"hgvs_c": "c.*80G>T",
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"transcript": "NM_001351255.2",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMUG1",
"gene_hgnc_id": 17148,
"hgvs_c": "c.*80G>T",
"hgvs_p": null,
"transcript": "NM_001351256.2",
"protein_id": "NP_001338185.1",
"transcript_support_level": null,
"aa_start": 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": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMUG1",
"gene_hgnc_id": 17148,
"hgvs_c": "c.*80G>T",
"hgvs_p": null,
"transcript": "NM_001351257.2",
"protein_id": "NP_001338186.1",
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
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"feature": null
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}