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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: 11-112194751-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=112194751&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 112194751,
"ref": "A",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_031938.7",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCO2",
"gene_hgnc_id": 18503,
"hgvs_c": "c.732A>C",
"hgvs_p": "p.Pro244Pro",
"transcript": "NM_031938.7",
"protein_id": "NP_114144.5",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 579,
"cds_start": 732,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000357685.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031938.7"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCO2",
"gene_hgnc_id": 18503,
"hgvs_c": "c.732A>C",
"hgvs_p": "p.Pro244Pro",
"transcript": "ENST00000357685.11",
"protein_id": "ENSP00000350314.5",
"transcript_support_level": 1,
"aa_start": 244,
"aa_end": null,
"aa_length": 579,
"cds_start": 732,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_031938.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357685.11"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCO2",
"gene_hgnc_id": 18503,
"hgvs_c": "c.630A>C",
"hgvs_p": "p.Pro210Pro",
"transcript": "ENST00000438022.5",
"protein_id": "ENSP00000414843.1",
"transcript_support_level": 1,
"aa_start": 210,
"aa_end": null,
"aa_length": 545,
"cds_start": 630,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438022.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCO2",
"gene_hgnc_id": 18503,
"hgvs_c": "c.630A>C",
"hgvs_p": "p.Pro210Pro",
"transcript": "ENST00000531169.5",
"protein_id": "ENSP00000437053.1",
"transcript_support_level": 1,
"aa_start": 210,
"aa_end": null,
"aa_length": 545,
"cds_start": 630,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531169.5"
},
{
"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": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BCO2",
"gene_hgnc_id": 18503,
"hgvs_c": "c.517+1054A>C",
"hgvs_p": null,
"transcript": "ENST00000361053.8",
"protein_id": "ENSP00000354338.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 506,
"cds_start": null,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361053.8"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BCO2",
"gene_hgnc_id": 18503,
"hgvs_c": "c.445+1054A>C",
"hgvs_p": null,
"transcript": "ENST00000532612.5",
"protein_id": "ENSP00000476560.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 210,
"cds_start": null,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532612.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCO2",
"gene_hgnc_id": 18503,
"hgvs_c": "c.732A>C",
"hgvs_p": "p.Pro244Pro",
"transcript": "ENST00000856015.1",
"protein_id": "ENSP00000526074.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 579,
"cds_start": 732,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856015.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCO2",
"gene_hgnc_id": 18503,
"hgvs_c": "c.732A>C",
"hgvs_p": "p.Pro244Pro",
"transcript": "ENST00000856016.1",
"protein_id": "ENSP00000526075.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 579,
"cds_start": 732,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856016.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCO2",
"gene_hgnc_id": 18503,
"hgvs_c": "c.732A>C",
"hgvs_p": "p.Pro244Pro",
"transcript": "ENST00000856020.1",
"protein_id": "ENSP00000526079.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 579,
"cds_start": 732,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856020.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCO2",
"gene_hgnc_id": 18503,
"hgvs_c": "c.720A>C",
"hgvs_p": "p.Pro240Pro",
"transcript": "ENST00000856023.1",
"protein_id": "ENSP00000526082.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 575,
"cds_start": 720,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856023.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCO2",
"gene_hgnc_id": 18503,
"hgvs_c": "c.720A>C",
"hgvs_p": "p.Pro240Pro",
"transcript": "ENST00000958916.1",
"protein_id": "ENSP00000628975.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 575,
"cds_start": 720,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958916.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCO2",
"gene_hgnc_id": 18503,
"hgvs_c": "c.630A>C",
"hgvs_p": "p.Pro210Pro",
"transcript": "NM_001037290.4",
"protein_id": "NP_001032367.3",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 545,
"cds_start": 630,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001037290.4"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCO2",
"gene_hgnc_id": 18503,
"hgvs_c": "c.732A>C",
"hgvs_p": "p.Pro244Pro",
"transcript": "ENST00000958920.1",
"protein_id": "ENSP00000628979.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 545,
"cds_start": 732,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958920.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCO2",
"gene_hgnc_id": 18503,
"hgvs_c": "c.630A>C",
"hgvs_p": "p.Pro210Pro",
"transcript": "NM_001256397.3",
"protein_id": "NP_001243326.2",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 539,
"cds_start": 630,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256397.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCO2",
"gene_hgnc_id": 18503,
"hgvs_c": "c.630A>C",
"hgvs_p": "p.Pro210Pro",
"transcript": "ENST00000526088.5",
"protein_id": "ENSP00000436615.1",
"transcript_support_level": 2,
"aa_start": 210,
"aa_end": null,
"aa_length": 539,
"cds_start": 630,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526088.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCO2",
"gene_hgnc_id": 18503,
"hgvs_c": "c.732A>C",
"hgvs_p": "p.Pro244Pro",
"transcript": "ENST00000856021.1",
"protein_id": "ENSP00000526080.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 536,
"cds_start": 732,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856021.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCO2",
"gene_hgnc_id": 18503,
"hgvs_c": "c.732A>C",
"hgvs_p": "p.Pro244Pro",
"transcript": "ENST00000856022.1",
"protein_id": "ENSP00000526081.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 536,
"cds_start": 732,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856022.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCO2",
"gene_hgnc_id": 18503,
"hgvs_c": "c.732A>C",
"hgvs_p": "p.Pro244Pro",
"transcript": "ENST00000958912.1",
"protein_id": "ENSP00000628971.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 536,
"cds_start": 732,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958912.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCO2",
"gene_hgnc_id": 18503,
"hgvs_c": "c.732A>C",
"hgvs_p": "p.Pro244Pro",
"transcript": "ENST00000958919.1",
"protein_id": "ENSP00000628978.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 533,
"cds_start": 732,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958919.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCO2",
"gene_hgnc_id": 18503,
"hgvs_c": "c.732A>C",
"hgvs_p": "p.Pro244Pro",
"transcript": "ENST00000856019.1",
"protein_id": "ENSP00000526078.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 523,
"cds_start": 732,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856019.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCO2",
"gene_hgnc_id": 18503,
"hgvs_c": "c.732A>C",
"hgvs_p": "p.Pro244Pro",
"transcript": "ENST00000856025.1",
"protein_id": "ENSP00000526084.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 518,
"cds_start": 732,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856025.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCO2",
"gene_hgnc_id": 18503,
"hgvs_c": "c.417A>C",
"hgvs_p": "p.Pro139Pro",
"transcript": "NM_001256400.3",
"protein_id": "NP_001243329.2",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 474,
"cds_start": 417,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256400.3"
},
{
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"phenotype_combined": "not provided",
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}
],
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}