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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: 20-36892951-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=36892951&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 36892951,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015474.4",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "c.1862T>A",
"hgvs_p": "p.Phe621Tyr",
"transcript": "NM_015474.4",
"protein_id": "NP_056289.2",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 626,
"cds_start": 1862,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 1927,
"cdna_end": null,
"cdna_length": 4649,
"mane_select": "ENST00000646673.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "c.1862T>A",
"hgvs_p": "p.Phe621Tyr",
"transcript": "ENST00000646673.2",
"protein_id": "ENSP00000493536.2",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 626,
"cds_start": 1862,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 1927,
"cdna_end": null,
"cdna_length": 4649,
"mane_select": "NM_015474.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "c.1757T>A",
"hgvs_p": "p.Phe586Tyr",
"transcript": "ENST00000262878.5",
"protein_id": "ENSP00000262878.5",
"transcript_support_level": 1,
"aa_start": 586,
"aa_end": null,
"aa_length": 591,
"cds_start": 1757,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1957,
"cdna_end": null,
"cdna_length": 4334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLDC2",
"gene_hgnc_id": 16112,
"hgvs_c": "c.*107A>T",
"hgvs_p": null,
"transcript": "NM_080628.3",
"protein_id": "NP_542195.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 215,
"cds_start": -4,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2076,
"mane_select": "ENST00000217320.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLDC2",
"gene_hgnc_id": 16112,
"hgvs_c": "c.*107A>T",
"hgvs_p": null,
"transcript": "ENST00000217320.8",
"protein_id": "ENSP00000217320.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 215,
"cds_start": -4,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2076,
"mane_select": "NM_080628.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "c.1757T>A",
"hgvs_p": "p.Phe586Tyr",
"transcript": "NM_001363729.2",
"protein_id": "NP_001350658.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 591,
"cds_start": 1757,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1822,
"cdna_end": null,
"cdna_length": 5000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "c.1652T>A",
"hgvs_p": "p.Phe551Tyr",
"transcript": "ENST00000646066.1",
"protein_id": "ENSP00000495432.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 556,
"cds_start": 1652,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1652,
"cdna_end": null,
"cdna_length": 1671,
"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": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "n.*2166T>A",
"hgvs_p": null,
"transcript": "ENST00000642186.1",
"protein_id": "ENSP00000494436.1",
"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": 3312,
"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": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "n.*1541T>A",
"hgvs_p": null,
"transcript": "ENST00000642246.1",
"protein_id": "ENSP00000494979.1",
"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": 4508,
"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": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "n.*315T>A",
"hgvs_p": null,
"transcript": "ENST00000644114.2",
"protein_id": "ENSP00000494354.2",
"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": 1809,
"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": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "n.1757T>A",
"hgvs_p": null,
"transcript": "ENST00000644250.2",
"protein_id": "ENSP00000493810.2",
"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": 3534,
"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": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "n.*1039T>A",
"hgvs_p": null,
"transcript": "ENST00000645033.1",
"protein_id": "ENSP00000494520.1",
"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": 4680,
"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": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "n.1862T>A",
"hgvs_p": null,
"transcript": "ENST00000646869.1",
"protein_id": "ENSP00000495667.1",
"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": 3209,
"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": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "n.*1068T>A",
"hgvs_p": null,
"transcript": "ENST00000646904.1",
"protein_id": "ENSP00000494823.1",
"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": 4672,
"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": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "n.3060T>A",
"hgvs_p": null,
"transcript": "ENST00000647095.1",
"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": 5492,
"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": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "n.*1039T>A",
"hgvs_p": null,
"transcript": "ENST00000647163.1",
"protein_id": "ENSP00000494313.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 3440,
"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": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "n.2911T>A",
"hgvs_p": null,
"transcript": "ENST00000647459.1",
"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": 3146,
"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": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "n.1862T>A",
"hgvs_p": null,
"transcript": "ENST00000682773.1",
"protein_id": "ENSP00000507178.1",
"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": 3687,
"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": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "n.*1174T>A",
"hgvs_p": null,
"transcript": "ENST00000683720.1",
"protein_id": "ENSP00000508219.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1919,
"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": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "n.1862T>A",
"hgvs_p": null,
"transcript": "ENST00000683766.1",
"protein_id": "ENSP00000506877.1",
"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": 2618,
"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": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "c.*955T>A",
"hgvs_p": null,
"transcript": "NM_001363733.2",
"protein_id": "NP_001350662.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 589,
"cds_start": -4,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3048,
"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": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "c.*955T>A",
"hgvs_p": null,
"transcript": "ENST00000643918.1",
"protein_id": "ENSP00000493928.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 589,
"cds_start": -4,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLDC2",
"gene_hgnc_id": 16112,
"hgvs_c": "c.*107A>T",
"hgvs_p": null,
"transcript": "NM_001304783.1",
"protein_id": "NP_001291712.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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}
],
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"bayesdelnoaf_score": -0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
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"spliceai_max_prediction": "Benign",
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{
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],
"verdict": "Uncertain_significance",
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"effects": [
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],
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{
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],
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}
],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Aicardi-Goutieres syndrome 5",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}