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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: X-66599554-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=66599554&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 66599554,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001242310.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA2R",
"gene_hgnc_id": 17756,
"hgvs_c": "c.824G>A",
"hgvs_p": "p.Gly275Glu",
"transcript": "NM_021783.5",
"protein_id": "NP_068555.2",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 297,
"cds_start": 824,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374719.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021783.5"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA2R",
"gene_hgnc_id": 17756,
"hgvs_c": "c.824G>A",
"hgvs_p": "p.Gly275Glu",
"transcript": "ENST00000374719.8",
"protein_id": "ENSP00000363851.3",
"transcript_support_level": 1,
"aa_start": 275,
"aa_end": null,
"aa_length": 297,
"cds_start": 824,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021783.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374719.8"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA2R",
"gene_hgnc_id": 17756,
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Gly296Glu",
"transcript": "ENST00000253392.5",
"protein_id": "ENSP00000253392.5",
"transcript_support_level": 1,
"aa_start": 296,
"aa_end": null,
"aa_length": 318,
"cds_start": 887,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000253392.5"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA2R",
"gene_hgnc_id": 17756,
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Gly296Glu",
"transcript": "NM_001242310.1",
"protein_id": "NP_001229239.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 318,
"cds_start": 887,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242310.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA2R",
"gene_hgnc_id": 17756,
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Gly296Glu",
"transcript": "ENST00000396050.5",
"protein_id": "ENSP00000379365.2",
"transcript_support_level": 5,
"aa_start": 296,
"aa_end": null,
"aa_length": 318,
"cds_start": 887,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396050.5"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA2R",
"gene_hgnc_id": 17756,
"hgvs_c": "c.830G>A",
"hgvs_p": "p.Gly277Glu",
"transcript": "NM_001324206.2",
"protein_id": "NP_001311135.2",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 299,
"cds_start": 830,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324206.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA2R",
"gene_hgnc_id": 17756,
"hgvs_c": "c.830G>A",
"hgvs_p": "p.Gly277Glu",
"transcript": "ENST00000902730.1",
"protein_id": "ENSP00000572789.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 299,
"cds_start": 830,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902730.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA2R",
"gene_hgnc_id": 17756,
"hgvs_c": "c.830G>A",
"hgvs_p": "p.Gly277Glu",
"transcript": "ENST00000902732.1",
"protein_id": "ENSP00000572791.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 299,
"cds_start": 830,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902732.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA2R",
"gene_hgnc_id": 17756,
"hgvs_c": "c.830G>A",
"hgvs_p": "p.Gly277Glu",
"transcript": "ENST00000944244.1",
"protein_id": "ENSP00000614303.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 299,
"cds_start": 830,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944244.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA2R",
"gene_hgnc_id": 17756,
"hgvs_c": "c.824G>A",
"hgvs_p": "p.Gly275Glu",
"transcript": "NM_001199687.3",
"protein_id": "NP_001186616.2",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 297,
"cds_start": 824,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199687.3"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA2R",
"gene_hgnc_id": 17756,
"hgvs_c": "c.824G>A",
"hgvs_p": "p.Gly275Glu",
"transcript": "ENST00000451436.6",
"protein_id": "ENSP00000415242.3",
"transcript_support_level": 5,
"aa_start": 275,
"aa_end": null,
"aa_length": 297,
"cds_start": 824,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451436.6"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA2R",
"gene_hgnc_id": 17756,
"hgvs_c": "c.824G>A",
"hgvs_p": "p.Gly275Glu",
"transcript": "ENST00000902731.1",
"protein_id": "ENSP00000572790.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 297,
"cds_start": 824,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902731.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA2R",
"gene_hgnc_id": 17756,
"hgvs_c": "c.728G>A",
"hgvs_p": "p.Gly243Glu",
"transcript": "NM_001324201.2",
"protein_id": "NP_001311130.2",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 265,
"cds_start": 728,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324201.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA2R",
"gene_hgnc_id": 17756,
"hgvs_c": "c.653G>A",
"hgvs_p": "p.Gly218Glu",
"transcript": "ENST00000902729.1",
"protein_id": "ENSP00000572788.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 240,
"cds_start": 653,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902729.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA2R",
"gene_hgnc_id": 17756,
"hgvs_c": "c.653G>A",
"hgvs_p": "p.Gly218Glu",
"transcript": "ENST00000944243.1",
"protein_id": "ENSP00000614302.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 240,
"cds_start": 653,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944243.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA2R",
"gene_hgnc_id": 17756,
"hgvs_c": "c.647G>A",
"hgvs_p": "p.Gly216Glu",
"transcript": "ENST00000902728.1",
"protein_id": "ENSP00000572787.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 238,
"cds_start": 647,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902728.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA2R",
"gene_hgnc_id": 17756,
"hgvs_c": "c.647G>A",
"hgvs_p": "p.Gly216Glu",
"transcript": "ENST00000925064.1",
"protein_id": "ENSP00000595123.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 238,
"cds_start": 647,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925064.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA2R",
"gene_hgnc_id": 17756,
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Gly151Glu",
"transcript": "NM_001324199.2",
"protein_id": "NP_001311128.2",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 173,
"cds_start": 452,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324199.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA2R",
"gene_hgnc_id": 17756,
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Gly309Glu",
"transcript": "XM_047442294.1",
"protein_id": "XP_047298250.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 331,
"cds_start": 926,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442294.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA2R",
"gene_hgnc_id": 17756,
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Gly309Glu",
"transcript": "XM_047442295.1",
"protein_id": "XP_047298251.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 331,
"cds_start": 926,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442295.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA2R",
"gene_hgnc_id": 17756,
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Gly296Glu",
"transcript": "XM_011531001.2",
"protein_id": "XP_011529303.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 318,
"cds_start": 887,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531001.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA2R",
"gene_hgnc_id": 17756,
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Gly296Glu",
"transcript": "XM_047442296.1",
"protein_id": "XP_047298252.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 318,
"cds_start": 887,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"phenotype_combined": "not specified",
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}
],
"message": null
}