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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: 9-127808825-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=127808825&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 127808825,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_004957.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.996G>A",
"hgvs_p": "p.Arg332Arg",
"transcript": "NM_004957.6",
"protein_id": "NP_004948.4",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 587,
"cds_start": 996,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373247.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004957.6"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.996G>A",
"hgvs_p": "p.Arg332Arg",
"transcript": "ENST00000373247.7",
"protein_id": "ENSP00000362344.2",
"transcript_support_level": 1,
"aa_start": 332,
"aa_end": null,
"aa_length": 587,
"cds_start": 996,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004957.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373247.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "n.984G>A",
"hgvs_p": null,
"transcript": "ENST00000460181.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000460181.5"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.848G>A",
"hgvs_p": "p.Gly283Asp",
"transcript": "ENST00000373228.5",
"protein_id": "ENSP00000362325.1",
"transcript_support_level": 5,
"aa_start": 283,
"aa_end": null,
"aa_length": 375,
"cds_start": 848,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373228.5"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.848G>A",
"hgvs_p": "p.Gly283Asp",
"transcript": "ENST00000630236.2",
"protein_id": "ENSP00000486766.1",
"transcript_support_level": 5,
"aa_start": 283,
"aa_end": null,
"aa_length": 375,
"cds_start": 848,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000630236.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.698G>A",
"hgvs_p": "p.Gly233Asp",
"transcript": "ENST00000431857.5",
"protein_id": "ENSP00000400007.1",
"transcript_support_level": 5,
"aa_start": 233,
"aa_end": null,
"aa_length": 263,
"cds_start": 698,
"cds_end": null,
"cds_length": 794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431857.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.1098G>A",
"hgvs_p": "p.Arg366Arg",
"transcript": "ENST00000910448.1",
"protein_id": "ENSP00000580507.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 621,
"cds_start": 1098,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910448.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.996G>A",
"hgvs_p": "p.Arg332Arg",
"transcript": "ENST00000910442.1",
"protein_id": "ENSP00000580501.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 604,
"cds_start": 996,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910442.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.1029G>A",
"hgvs_p": "p.Arg343Arg",
"transcript": "ENST00000931643.1",
"protein_id": "ENSP00000601702.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 598,
"cds_start": 1029,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931643.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.1029G>A",
"hgvs_p": "p.Arg343Arg",
"transcript": "ENST00000943704.1",
"protein_id": "ENSP00000613763.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 598,
"cds_start": 1029,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943704.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.996G>A",
"hgvs_p": "p.Arg332Arg",
"transcript": "ENST00000931641.1",
"protein_id": "ENSP00000601700.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 594,
"cds_start": 996,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931641.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.1008G>A",
"hgvs_p": "p.Arg336Arg",
"transcript": "ENST00000910447.1",
"protein_id": "ENSP00000580506.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 591,
"cds_start": 1008,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910447.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.1002G>A",
"hgvs_p": "p.Arg334Arg",
"transcript": "ENST00000910449.1",
"protein_id": "ENSP00000580508.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 589,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910449.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.966G>A",
"hgvs_p": "p.Arg322Arg",
"transcript": "ENST00000910443.1",
"protein_id": "ENSP00000580502.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 577,
"cds_start": 966,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910443.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.942G>A",
"hgvs_p": "p.Arg314Arg",
"transcript": "ENST00000910444.1",
"protein_id": "ENSP00000580503.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 569,
"cds_start": 942,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910444.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.942G>A",
"hgvs_p": "p.Arg314Arg",
"transcript": "ENST00000910445.1",
"protein_id": "ENSP00000580504.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 569,
"cds_start": 942,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910445.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.918G>A",
"hgvs_p": "p.Arg306Arg",
"transcript": "NM_001288803.1",
"protein_id": "NP_001275732.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 561,
"cds_start": 918,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288803.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.918G>A",
"hgvs_p": "p.Arg306Arg",
"transcript": "ENST00000393706.6",
"protein_id": "ENSP00000377309.2",
"transcript_support_level": 2,
"aa_start": 306,
"aa_end": null,
"aa_length": 561,
"cds_start": 918,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393706.6"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.918G>A",
"hgvs_p": "p.Arg306Arg",
"transcript": "ENST00000943706.1",
"protein_id": "ENSP00000613765.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 561,
"cds_start": 918,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943706.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.867G>A",
"hgvs_p": "p.Arg289Arg",
"transcript": "ENST00000943702.1",
"protein_id": "ENSP00000613761.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 544,
"cds_start": 867,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943702.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.852G>A",
"hgvs_p": "p.Arg284Arg",
"transcript": "ENST00000910446.1",
"protein_id": "ENSP00000580505.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 539,
"cds_start": 852,
"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": "ENST00000910446.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.846G>A",
"hgvs_p": "p.Arg282Arg",
"transcript": "NM_001018078.2",
"protein_id": "NP_001018088.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 537,
"cds_start": 846,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001018078.2"
},
{
"aa_ref": "R",
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}
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}