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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: 1-155319633-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=155319633&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 155319633,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000368356.9",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDPS",
"gene_hgnc_id": 3631,
"hgvs_c": "c.869A>G",
"hgvs_p": "p.Glu290Gly",
"transcript": "NM_002004.4",
"protein_id": "NP_001995.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 419,
"cds_start": 869,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 1417,
"mane_select": "ENST00000368356.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDPS",
"gene_hgnc_id": 3631,
"hgvs_c": "c.869A>G",
"hgvs_p": "p.Glu290Gly",
"transcript": "ENST00000368356.9",
"protein_id": "ENSP00000357340.4",
"transcript_support_level": 2,
"aa_start": 290,
"aa_end": null,
"aa_length": 419,
"cds_start": 869,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 1417,
"mane_select": "NM_002004.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDPS",
"gene_hgnc_id": 3631,
"hgvs_c": "c.869A>G",
"hgvs_p": "p.Glu290Gly",
"transcript": "ENST00000356657.10",
"protein_id": "ENSP00000349078.6",
"transcript_support_level": 1,
"aa_start": 290,
"aa_end": null,
"aa_length": 419,
"cds_start": 869,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1031,
"cdna_end": null,
"cdna_length": 1478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RUSC1-AS1",
"gene_hgnc_id": 26680,
"hgvs_c": "n.310-1237T>C",
"hgvs_p": null,
"transcript": "ENST00000543656.3",
"protein_id": null,
"transcript_support_level": 1,
"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": 1850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDPS",
"gene_hgnc_id": 3631,
"hgvs_c": "c.869A>G",
"hgvs_p": "p.Glu290Gly",
"transcript": "NM_001135821.2",
"protein_id": "NP_001129293.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 419,
"cds_start": 869,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1081,
"cdna_end": null,
"cdna_length": 1528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDPS",
"gene_hgnc_id": 3631,
"hgvs_c": "c.671A>G",
"hgvs_p": "p.Glu224Gly",
"transcript": "NM_001135822.2",
"protein_id": "NP_001129294.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 353,
"cds_start": 671,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 772,
"cdna_end": null,
"cdna_length": 1219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDPS",
"gene_hgnc_id": 3631,
"hgvs_c": "c.671A>G",
"hgvs_p": "p.Glu224Gly",
"transcript": "NM_001242824.2",
"protein_id": "NP_001229753.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 353,
"cds_start": 671,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 793,
"cdna_end": null,
"cdna_length": 1240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDPS",
"gene_hgnc_id": 3631,
"hgvs_c": "c.671A>G",
"hgvs_p": "p.Glu224Gly",
"transcript": "NM_001378424.1",
"protein_id": "NP_001365353.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 353,
"cds_start": 671,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 883,
"cdna_end": null,
"cdna_length": 1330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDPS",
"gene_hgnc_id": 3631,
"hgvs_c": "c.671A>G",
"hgvs_p": "p.Glu224Gly",
"transcript": "NM_001378425.1",
"protein_id": "NP_001365354.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 353,
"cds_start": 671,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 904,
"cdna_end": null,
"cdna_length": 1351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDPS",
"gene_hgnc_id": 3631,
"hgvs_c": "c.671A>G",
"hgvs_p": "p.Glu224Gly",
"transcript": "ENST00000447866.5",
"protein_id": "ENSP00000391755.1",
"transcript_support_level": 5,
"aa_start": 224,
"aa_end": null,
"aa_length": 353,
"cds_start": 671,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 865,
"cdna_end": null,
"cdna_length": 1256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDPS",
"gene_hgnc_id": 3631,
"hgvs_c": "c.671A>G",
"hgvs_p": "p.Glu224Gly",
"transcript": "ENST00000467076.5",
"protein_id": "ENSP00000480142.1",
"transcript_support_level": 3,
"aa_start": 224,
"aa_end": null,
"aa_length": 353,
"cds_start": 671,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 749,
"cdna_end": null,
"cdna_length": 1178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDPS",
"gene_hgnc_id": 3631,
"hgvs_c": "c.671A>G",
"hgvs_p": "p.Glu224Gly",
"transcript": "ENST00000612683.1",
"protein_id": "ENSP00000478235.1",
"transcript_support_level": 5,
"aa_start": 224,
"aa_end": null,
"aa_length": 353,
"cds_start": 671,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 779,
"cdna_end": null,
"cdna_length": 1198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDPS",
"gene_hgnc_id": 3631,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Glu119Gly",
"transcript": "NM_001242825.2",
"protein_id": "NP_001229754.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 248,
"cds_start": 356,
"cds_end": null,
"cds_length": 747,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 1077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDPS",
"gene_hgnc_id": 3631,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Glu119Gly",
"transcript": "ENST00000611010.4",
"protein_id": "ENSP00000483188.1",
"transcript_support_level": 5,
"aa_start": 119,
"aa_end": null,
"aa_length": 248,
"cds_start": 356,
"cds_end": null,
"cds_length": 747,
"cdna_start": 748,
"cdna_end": null,
"cdna_length": 1196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDPS",
"gene_hgnc_id": 3631,
"hgvs_c": "n.883A>G",
"hgvs_p": null,
"transcript": "ENST00000468479.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDPS",
"gene_hgnc_id": 3631,
"hgvs_c": "n.233A>G",
"hgvs_p": null,
"transcript": "ENST00000490140.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDPS",
"gene_hgnc_id": 3631,
"hgvs_c": "n.289A>G",
"hgvs_p": null,
"transcript": "ENST00000492244.5",
"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": 673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDPS",
"gene_hgnc_id": 3631,
"hgvs_c": "n.302A>G",
"hgvs_p": null,
"transcript": "ENST00000492887.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RUSC1-AS1",
"gene_hgnc_id": 26680,
"hgvs_c": "n.698+170T>C",
"hgvs_p": null,
"transcript": "ENST00000443642.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RUSC1-AS1",
"gene_hgnc_id": 26680,
"hgvs_c": "n.561+170T>C",
"hgvs_p": null,
"transcript": "ENST00000446880.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 1836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RUSC1-AS1",
"gene_hgnc_id": 26680,
"hgvs_c": "n.467+170T>C",
"hgvs_p": null,
"transcript": "ENST00000746586.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RUSC1-AS1",
"gene_hgnc_id": 26680,
"hgvs_c": "n.559+170T>C",
"hgvs_p": null,
"transcript": "ENST00000746587.1",
"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": 841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RUSC1-AS1",
"gene_hgnc_id": 26680,
"hgvs_c": "n.290+170T>C",
"hgvs_p": null,
"transcript": "ENST00000746588.1",
"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": 569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
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}