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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: 20-36905381-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=36905381&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 36905381,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000646673.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "c.1393C>A",
"hgvs_p": "p.Gln465Lys",
"transcript": "NM_015474.4",
"protein_id": "NP_056289.2",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 626,
"cds_start": 1393,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 1458,
"cdna_end": null,
"cdna_length": 4649,
"mane_select": "ENST00000646673.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "c.1393C>A",
"hgvs_p": "p.Gln465Lys",
"transcript": "ENST00000646673.2",
"protein_id": "ENSP00000493536.2",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 626,
"cds_start": 1393,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 1458,
"cdna_end": null,
"cdna_length": 4649,
"mane_select": "NM_015474.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "c.1393C>A",
"hgvs_p": "p.Gln465Lys",
"transcript": "ENST00000262878.5",
"protein_id": "ENSP00000262878.5",
"transcript_support_level": 1,
"aa_start": 465,
"aa_end": null,
"aa_length": 591,
"cds_start": 1393,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1593,
"cdna_end": null,
"cdna_length": 4334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "c.1393C>A",
"hgvs_p": "p.Gln465Lys",
"transcript": "NM_001363729.2",
"protein_id": "NP_001350658.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 591,
"cds_start": 1393,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1458,
"cdna_end": null,
"cdna_length": 5000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "c.1393C>A",
"hgvs_p": "p.Gln465Lys",
"transcript": "NM_001363733.2",
"protein_id": "NP_001350662.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 589,
"cds_start": 1393,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1458,
"cdna_end": null,
"cdna_length": 3048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "c.1393C>A",
"hgvs_p": "p.Gln465Lys",
"transcript": "ENST00000643918.1",
"protein_id": "ENSP00000493928.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 589,
"cds_start": 1393,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1431,
"cdna_end": null,
"cdna_length": 2967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "c.1183C>A",
"hgvs_p": "p.Gln395Lys",
"transcript": "ENST00000646066.1",
"protein_id": "ENSP00000495432.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 556,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1183,
"cdna_end": null,
"cdna_length": 1671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "c.16C>A",
"hgvs_p": "p.Gln6Lys",
"transcript": "ENST00000643825.1",
"protein_id": "ENSP00000495448.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 139,
"cds_start": 16,
"cds_end": null,
"cds_length": 420,
"cdna_start": 16,
"cdna_end": null,
"cdna_length": 522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "c.13C>A",
"hgvs_p": "p.Gln5Lys",
"transcript": "ENST00000465985.2",
"protein_id": "ENSP00000496075.1",
"transcript_support_level": 3,
"aa_start": 5,
"aa_end": null,
"aa_length": 103,
"cds_start": 13,
"cds_end": null,
"cds_length": 312,
"cdna_start": 14,
"cdna_end": null,
"cdna_length": 513,
"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": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "n.*1697C>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": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "n.*1072C>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": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "n.1393C>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": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "n.1455C>A",
"hgvs_p": null,
"transcript": "ENST00000644688.2",
"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": 1700,
"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": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "n.*570C>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": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "n.*1697C>A",
"hgvs_p": null,
"transcript": "ENST00000645444.2",
"protein_id": "ENSP00000495381.2",
"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": 4030,
"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": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "n.1393C>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,
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"cdna_start": null,
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"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": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "n.*599C>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": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "n.2591C>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": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "n.*570C>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,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "n.2547C>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,
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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": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "n.1393C>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,
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"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": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "n.*705C>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,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"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": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "n.1393C>A",
"hgvs_p": null,
"transcript": "ENST00000683766.1",
"protein_id": "ENSP00000506877.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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}