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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: 10-73504855-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=73504855&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 73504855,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001391941.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP54",
"gene_hgnc_id": 23513,
"hgvs_c": "c.4306A>G",
"hgvs_p": "p.Ser1436Gly",
"transcript": "NM_001391956.1",
"protein_id": "NP_001378885.1",
"transcript_support_level": null,
"aa_start": 1436,
"aa_end": null,
"aa_length": 1684,
"cds_start": 4306,
"cds_end": null,
"cds_length": 5055,
"cdna_start": 4952,
"cdna_end": null,
"cdna_length": 6792,
"mane_select": "ENST00000687698.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001391956.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP54",
"gene_hgnc_id": 23513,
"hgvs_c": "c.4306A>G",
"hgvs_p": "p.Ser1436Gly",
"transcript": "ENST00000687698.1",
"protein_id": "ENSP00000510226.1",
"transcript_support_level": null,
"aa_start": 1436,
"aa_end": null,
"aa_length": 1684,
"cds_start": 4306,
"cds_end": null,
"cds_length": 5055,
"cdna_start": 4952,
"cdna_end": null,
"cdna_length": 6792,
"mane_select": "NM_001391956.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687698.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "USP54",
"gene_hgnc_id": 23513,
"hgvs_c": "c.*1460+453A>G",
"hgvs_p": null,
"transcript": "ENST00000422491.7",
"protein_id": "ENSP00000407368.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 837,
"cds_start": null,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5688,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422491.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP3CB-AS1",
"gene_hgnc_id": 50750,
"hgvs_c": "n.1705T>C",
"hgvs_p": null,
"transcript": "ENST00000422977.3",
"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": 2541,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000422977.3"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP54",
"gene_hgnc_id": 23513,
"hgvs_c": "c.4372A>G",
"hgvs_p": "p.Ser1458Gly",
"transcript": "NM_001391941.1",
"protein_id": "NP_001378870.1",
"transcript_support_level": null,
"aa_start": 1458,
"aa_end": null,
"aa_length": 1706,
"cds_start": 4372,
"cds_end": null,
"cds_length": 5121,
"cdna_start": 5120,
"cdna_end": null,
"cdna_length": 6960,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001391941.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP54",
"gene_hgnc_id": 23513,
"hgvs_c": "c.4306A>G",
"hgvs_p": "p.Ser1436Gly",
"transcript": "NM_001391953.1",
"protein_id": "NP_001378882.1",
"transcript_support_level": null,
"aa_start": 1436,
"aa_end": null,
"aa_length": 1684,
"cds_start": 4306,
"cds_end": null,
"cds_length": 5055,
"cdna_start": 4624,
"cdna_end": null,
"cdna_length": 6464,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001391953.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP54",
"gene_hgnc_id": 23513,
"hgvs_c": "c.4306A>G",
"hgvs_p": "p.Ser1436Gly",
"transcript": "NM_152586.4",
"protein_id": "NP_689799.3",
"transcript_support_level": null,
"aa_start": 1436,
"aa_end": null,
"aa_length": 1684,
"cds_start": 4306,
"cds_end": null,
"cds_length": 5055,
"cdna_start": 4368,
"cdna_end": null,
"cdna_length": 6208,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152586.4"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP54",
"gene_hgnc_id": 23513,
"hgvs_c": "c.4306A>G",
"hgvs_p": "p.Ser1436Gly",
"transcript": "ENST00000339859.8",
"protein_id": "ENSP00000345216.4",
"transcript_support_level": 5,
"aa_start": 1436,
"aa_end": null,
"aa_length": 1684,
"cds_start": 4306,
"cds_end": null,
"cds_length": 5055,
"cdna_start": 4407,
"cdna_end": null,
"cdna_length": 6247,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339859.8"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP54",
"gene_hgnc_id": 23513,
"hgvs_c": "c.4201A>G",
"hgvs_p": "p.Ser1401Gly",
"transcript": "ENST00000928943.1",
"protein_id": "ENSP00000599002.1",
"transcript_support_level": null,
"aa_start": 1401,
"aa_end": null,
"aa_length": 1649,
"cds_start": 4201,
"cds_end": null,
"cds_length": 4950,
"cdna_start": 4488,
"cdna_end": null,
"cdna_length": 6328,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928943.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP54",
"gene_hgnc_id": 23513,
"hgvs_c": "c.4201A>G",
"hgvs_p": "p.Ser1401Gly",
"transcript": "ENST00000928945.1",
"protein_id": "ENSP00000599004.1",
"transcript_support_level": null,
"aa_start": 1401,
"aa_end": null,
"aa_length": 1649,
"cds_start": 4201,
"cds_end": null,
"cds_length": 4950,
"cdna_start": 4817,
"cdna_end": null,
"cdna_length": 6657,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928945.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP54",
"gene_hgnc_id": 23513,
"hgvs_c": "c.4186A>G",
"hgvs_p": "p.Ser1396Gly",
"transcript": "ENST00000689425.1",
"protein_id": "ENSP00000508413.1",
"transcript_support_level": null,
"aa_start": 1396,
"aa_end": null,
"aa_length": 1644,
"cds_start": 4186,
"cds_end": null,
"cds_length": 4935,
"cdna_start": 4948,
"cdna_end": null,
"cdna_length": 6776,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689425.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP54",
"gene_hgnc_id": 23513,
"hgvs_c": "c.4135A>G",
"hgvs_p": "p.Ser1379Gly",
"transcript": "NM_001378208.1",
"protein_id": "NP_001365137.1",
"transcript_support_level": null,
"aa_start": 1379,
"aa_end": null,
"aa_length": 1627,
"cds_start": 4135,
"cds_end": null,
"cds_length": 4884,
"cdna_start": 4883,
"cdna_end": null,
"cdna_length": 6723,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378208.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP54",
"gene_hgnc_id": 23513,
"hgvs_c": "c.4135A>G",
"hgvs_p": "p.Ser1379Gly",
"transcript": "NM_001378209.1",
"protein_id": "NP_001365138.1",
"transcript_support_level": null,
"aa_start": 1379,
"aa_end": null,
"aa_length": 1627,
"cds_start": 4135,
"cds_end": null,
"cds_length": 4884,
"cdna_start": 4928,
"cdna_end": null,
"cdna_length": 6768,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378209.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP54",
"gene_hgnc_id": 23513,
"hgvs_c": "c.4135A>G",
"hgvs_p": "p.Ser1379Gly",
"transcript": "NM_001378210.1",
"protein_id": "NP_001365139.1",
"transcript_support_level": null,
"aa_start": 1379,
"aa_end": null,
"aa_length": 1627,
"cds_start": 4135,
"cds_end": null,
"cds_length": 4884,
"cdna_start": 4217,
"cdna_end": null,
"cdna_length": 6057,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378210.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP54",
"gene_hgnc_id": 23513,
"hgvs_c": "c.4135A>G",
"hgvs_p": "p.Ser1379Gly",
"transcript": "NM_001391945.1",
"protein_id": "NP_001378874.1",
"transcript_support_level": null,
"aa_start": 1379,
"aa_end": null,
"aa_length": 1627,
"cds_start": 4135,
"cds_end": null,
"cds_length": 4884,
"cdna_start": 4761,
"cdna_end": null,
"cdna_length": 6601,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001391945.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP54",
"gene_hgnc_id": 23513,
"hgvs_c": "c.4135A>G",
"hgvs_p": "p.Ser1379Gly",
"transcript": "NM_001391946.1",
"protein_id": "NP_001378875.1",
"transcript_support_level": null,
"aa_start": 1379,
"aa_end": null,
"aa_length": 1627,
"cds_start": 4135,
"cds_end": null,
"cds_length": 4884,
"cdna_start": 4423,
"cdna_end": null,
"cdna_length": 6263,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001391946.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP54",
"gene_hgnc_id": 23513,
"hgvs_c": "c.4135A>G",
"hgvs_p": "p.Ser1379Gly",
"transcript": "NM_001391948.1",
"protein_id": "NP_001378877.1",
"transcript_support_level": null,
"aa_start": 1379,
"aa_end": null,
"aa_length": 1627,
"cds_start": 4135,
"cds_end": null,
"cds_length": 4884,
"cdna_start": 4197,
"cdna_end": null,
"cdna_length": 6037,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001391948.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP54",
"gene_hgnc_id": 23513,
"hgvs_c": "c.4135A>G",
"hgvs_p": "p.Ser1379Gly",
"transcript": "NM_001391954.1",
"protein_id": "NP_001378883.1",
"transcript_support_level": null,
"aa_start": 1379,
"aa_end": null,
"aa_length": 1627,
"cds_start": 4135,
"cds_end": null,
"cds_length": 4884,
"cdna_start": 4791,
"cdna_end": null,
"cdna_length": 6631,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001391954.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP54",
"gene_hgnc_id": 23513,
"hgvs_c": "c.4135A>G",
"hgvs_p": "p.Ser1379Gly",
"transcript": "NM_001391955.1",
"protein_id": "NP_001378884.1",
"transcript_support_level": null,
"aa_start": 1379,
"aa_end": null,
"aa_length": 1627,
"cds_start": 4135,
"cds_end": null,
"cds_length": 4884,
"cdna_start": 4781,
"cdna_end": null,
"cdna_length": 6621,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001391955.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP54",
"gene_hgnc_id": 23513,
"hgvs_c": "c.4135A>G",
"hgvs_p": "p.Ser1379Gly",
"transcript": "ENST00000874399.1",
"protein_id": "ENSP00000544458.1",
"transcript_support_level": null,
"aa_start": 1379,
"aa_end": null,
"aa_length": 1627,
"cds_start": 4135,
"cds_end": null,
"cds_length": 4884,
"cdna_start": 4912,
"cdna_end": null,
"cdna_length": 6752,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874399.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP54",
"gene_hgnc_id": 23513,
"hgvs_c": "c.4135A>G",
"hgvs_p": "p.Ser1379Gly",
"transcript": "ENST00000928932.1",
"protein_id": "ENSP00000598991.1",
"transcript_support_level": null,
"aa_start": 1379,
"aa_end": null,
"aa_length": 1627,
"cds_start": 4135,
"cds_end": null,
"cds_length": 4884,
"cdna_start": 4832,
"cdna_end": null,
"cdna_length": 6672,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928932.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP54",
"gene_hgnc_id": 23513,
"hgvs_c": "c.4135A>G",
"hgvs_p": "p.Ser1379Gly",
"transcript": "ENST00000928935.1",
"protein_id": "ENSP00000598994.1",
"transcript_support_level": null,
"aa_start": 1379,
"aa_end": null,
"aa_length": 1627,
"cds_start": 4135,
"cds_end": null,
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{
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],
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}