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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: 1-204526376-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=204526376&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 204526376,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_002393.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.95C>G",
"hgvs_p": "p.Pro32Arg",
"transcript": "NM_002393.5",
"protein_id": "NP_002384.2",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 490,
"cds_start": 95,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367182.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002393.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.95C>G",
"hgvs_p": "p.Pro32Arg",
"transcript": "ENST00000367182.8",
"protein_id": "ENSP00000356150.3",
"transcript_support_level": 1,
"aa_start": 32,
"aa_end": null,
"aa_length": 490,
"cds_start": 95,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002393.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367182.8"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.95C>G",
"hgvs_p": "p.Pro32Arg",
"transcript": "ENST00000454264.6",
"protein_id": "ENSP00000396840.2",
"transcript_support_level": 1,
"aa_start": 32,
"aa_end": null,
"aa_length": 440,
"cds_start": 95,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454264.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.78+780C>G",
"hgvs_p": null,
"transcript": "ENST00000367183.7",
"protein_id": "ENSP00000356151.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 164,
"cds_start": null,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367183.7"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.95C>G",
"hgvs_p": "p.Pro32Arg",
"transcript": "ENST00000880815.1",
"protein_id": "ENSP00000550874.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 490,
"cds_start": 95,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880815.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.95C>G",
"hgvs_p": "p.Pro32Arg",
"transcript": "ENST00000880816.1",
"protein_id": "ENSP00000550875.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 490,
"cds_start": 95,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880816.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.95C>G",
"hgvs_p": "p.Pro32Arg",
"transcript": "ENST00000880817.1",
"protein_id": "ENSP00000550876.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 490,
"cds_start": 95,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880817.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.95C>G",
"hgvs_p": "p.Pro32Arg",
"transcript": "ENST00000922675.1",
"protein_id": "ENSP00000592734.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 490,
"cds_start": 95,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922675.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.95C>G",
"hgvs_p": "p.Pro32Arg",
"transcript": "ENST00000959568.1",
"protein_id": "ENSP00000629627.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 490,
"cds_start": 95,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959568.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.95C>G",
"hgvs_p": "p.Pro32Arg",
"transcript": "ENST00000880814.1",
"protein_id": "ENSP00000550873.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 485,
"cds_start": 95,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880814.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.95C>G",
"hgvs_p": "p.Pro32Arg",
"transcript": "ENST00000922677.1",
"protein_id": "ENSP00000592736.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 485,
"cds_start": 95,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922677.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.95C>G",
"hgvs_p": "p.Pro32Arg",
"transcript": "ENST00000959566.1",
"protein_id": "ENSP00000629625.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 473,
"cds_start": 95,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959566.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.95C>G",
"hgvs_p": "p.Pro32Arg",
"transcript": "NM_001204171.2",
"protein_id": "NP_001191100.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 440,
"cds_start": 95,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204171.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.95C>G",
"hgvs_p": "p.Pro32Arg",
"transcript": "ENST00000922679.1",
"protein_id": "ENSP00000592738.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 440,
"cds_start": 95,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922679.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.95C>G",
"hgvs_p": "p.Pro32Arg",
"transcript": "ENST00000959567.1",
"protein_id": "ENSP00000629626.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 434,
"cds_start": 95,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959567.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.95C>G",
"hgvs_p": "p.Pro32Arg",
"transcript": "NM_001278519.2",
"protein_id": "NP_001265448.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 267,
"cds_start": 95,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278519.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.95C>G",
"hgvs_p": "p.Pro32Arg",
"transcript": "ENST00000612738.4",
"protein_id": "ENSP00000478080.1",
"transcript_support_level": 5,
"aa_start": 32,
"aa_end": null,
"aa_length": 267,
"cds_start": 95,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612738.4"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.95C>G",
"hgvs_p": "p.Pro32Arg",
"transcript": "ENST00000471783.2",
"protein_id": "ENSP00000520981.1",
"transcript_support_level": 3,
"aa_start": 32,
"aa_end": null,
"aa_length": 158,
"cds_start": 95,
"cds_end": null,
"cds_length": 479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000471783.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.95C>G",
"hgvs_p": "p.Pro32Arg",
"transcript": "NM_001278516.2",
"protein_id": "NP_001265445.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 140,
"cds_start": 95,
"cds_end": null,
"cds_length": 423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278516.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.95C>G",
"hgvs_p": "p.Pro32Arg",
"transcript": "ENST00000367180.5",
"protein_id": "ENSP00000356148.1",
"transcript_support_level": 3,
"aa_start": 32,
"aa_end": null,
"aa_length": 131,
"cds_start": 95,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367180.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.95C>G",
"hgvs_p": "p.Pro32Arg",
"transcript": "NM_001278518.2",
"protein_id": "NP_001265447.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 116,
"cds_start": 95,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278518.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.149C>G",
"hgvs_p": "p.Pro50Arg",
"transcript": "XM_017001311.2",
"protein_id": "XP_016856800.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 508,
"cds_start": 149,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001311.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
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}