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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-18893528-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=18893528&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 18893528,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001440805.1",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3665A>C",
"hgvs_p": "p.Tyr1222Ser",
"transcript": "NM_000292.3",
"protein_id": "NP_000283.1",
"transcript_support_level": null,
"aa_start": 1222,
"aa_end": null,
"aa_length": 1235,
"cds_start": 3665,
"cds_end": null,
"cds_length": 3708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000379942.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000292.3"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3665A>C",
"hgvs_p": "p.Tyr1222Ser",
"transcript": "ENST00000379942.5",
"protein_id": "ENSP00000369274.4",
"transcript_support_level": 1,
"aa_start": 1222,
"aa_end": null,
"aa_length": 1235,
"cds_start": 3665,
"cds_end": null,
"cds_length": 3708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000292.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379942.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PHKA2-AS1",
"gene_hgnc_id": 44110,
"hgvs_c": "n.467+190T>G",
"hgvs_p": null,
"transcript": "ENST00000452900.5",
"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": "ENST00000452900.5"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3689A>C",
"hgvs_p": "p.Tyr1230Ser",
"transcript": "NM_001440805.1",
"protein_id": "NP_001427734.1",
"transcript_support_level": null,
"aa_start": 1230,
"aa_end": null,
"aa_length": 1243,
"cds_start": 3689,
"cds_end": null,
"cds_length": 3732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440805.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3689A>C",
"hgvs_p": "p.Tyr1230Ser",
"transcript": "ENST00000897868.1",
"protein_id": "ENSP00000567927.1",
"transcript_support_level": null,
"aa_start": 1230,
"aa_end": null,
"aa_length": 1243,
"cds_start": 3689,
"cds_end": null,
"cds_length": 3732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897868.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3650A>C",
"hgvs_p": "p.Tyr1217Ser",
"transcript": "ENST00000954730.1",
"protein_id": "ENSP00000624789.1",
"transcript_support_level": null,
"aa_start": 1217,
"aa_end": null,
"aa_length": 1230,
"cds_start": 3650,
"cds_end": null,
"cds_length": 3693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954730.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3638A>C",
"hgvs_p": "p.Tyr1213Ser",
"transcript": "ENST00000897873.1",
"protein_id": "ENSP00000567932.1",
"transcript_support_level": null,
"aa_start": 1213,
"aa_end": null,
"aa_length": 1226,
"cds_start": 3638,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897873.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3611A>C",
"hgvs_p": "p.Tyr1204Ser",
"transcript": "NM_001440800.1",
"protein_id": "NP_001427729.1",
"transcript_support_level": null,
"aa_start": 1204,
"aa_end": null,
"aa_length": 1217,
"cds_start": 3611,
"cds_end": null,
"cds_length": 3654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440800.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3611A>C",
"hgvs_p": "p.Tyr1204Ser",
"transcript": "ENST00000897869.1",
"protein_id": "ENSP00000567928.1",
"transcript_support_level": null,
"aa_start": 1204,
"aa_end": null,
"aa_length": 1217,
"cds_start": 3611,
"cds_end": null,
"cds_length": 3654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897869.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3581A>C",
"hgvs_p": "p.Tyr1194Ser",
"transcript": "NM_001440801.1",
"protein_id": "NP_001427730.1",
"transcript_support_level": null,
"aa_start": 1194,
"aa_end": null,
"aa_length": 1207,
"cds_start": 3581,
"cds_end": null,
"cds_length": 3624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440801.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3581A>C",
"hgvs_p": "p.Tyr1194Ser",
"transcript": "ENST00000897867.1",
"protein_id": "ENSP00000567926.1",
"transcript_support_level": null,
"aa_start": 1194,
"aa_end": null,
"aa_length": 1207,
"cds_start": 3581,
"cds_end": null,
"cds_length": 3624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897867.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3575A>C",
"hgvs_p": "p.Tyr1192Ser",
"transcript": "ENST00000954732.1",
"protein_id": "ENSP00000624791.1",
"transcript_support_level": null,
"aa_start": 1192,
"aa_end": null,
"aa_length": 1205,
"cds_start": 3575,
"cds_end": null,
"cds_length": 3618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954732.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3566A>C",
"hgvs_p": "p.Tyr1189Ser",
"transcript": "NM_001440802.1",
"protein_id": "NP_001427731.1",
"transcript_support_level": null,
"aa_start": 1189,
"aa_end": null,
"aa_length": 1202,
"cds_start": 3566,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440802.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3566A>C",
"hgvs_p": "p.Tyr1189Ser",
"transcript": "ENST00000897870.1",
"protein_id": "ENSP00000567929.1",
"transcript_support_level": null,
"aa_start": 1189,
"aa_end": null,
"aa_length": 1202,
"cds_start": 3566,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897870.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3566A>C",
"hgvs_p": "p.Tyr1189Ser",
"transcript": "ENST00000934920.1",
"protein_id": "ENSP00000604979.1",
"transcript_support_level": null,
"aa_start": 1189,
"aa_end": null,
"aa_length": 1202,
"cds_start": 3566,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934920.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3533A>C",
"hgvs_p": "p.Tyr1178Ser",
"transcript": "ENST00000934921.1",
"protein_id": "ENSP00000604980.1",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1191,
"cds_start": 3533,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934921.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3530A>C",
"hgvs_p": "p.Tyr1177Ser",
"transcript": "ENST00000954728.1",
"protein_id": "ENSP00000624787.1",
"transcript_support_level": null,
"aa_start": 1177,
"aa_end": null,
"aa_length": 1190,
"cds_start": 3530,
"cds_end": null,
"cds_length": 3573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954728.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3527A>C",
"hgvs_p": "p.Tyr1176Ser",
"transcript": "ENST00000934923.1",
"protein_id": "ENSP00000604982.1",
"transcript_support_level": null,
"aa_start": 1176,
"aa_end": null,
"aa_length": 1189,
"cds_start": 3527,
"cds_end": null,
"cds_length": 3570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934923.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3512A>C",
"hgvs_p": "p.Tyr1171Ser",
"transcript": "NM_001440803.1",
"protein_id": "NP_001427732.1",
"transcript_support_level": null,
"aa_start": 1171,
"aa_end": null,
"aa_length": 1184,
"cds_start": 3512,
"cds_end": null,
"cds_length": 3555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440803.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3512A>C",
"hgvs_p": "p.Tyr1171Ser",
"transcript": "ENST00000954729.1",
"protein_id": "ENSP00000624788.1",
"transcript_support_level": null,
"aa_start": 1171,
"aa_end": null,
"aa_length": 1184,
"cds_start": 3512,
"cds_end": null,
"cds_length": 3555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954729.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3482A>C",
"hgvs_p": "p.Tyr1161Ser",
"transcript": "NM_001440804.1",
"protein_id": "NP_001427733.1",
"transcript_support_level": null,
"aa_start": 1161,
"aa_end": null,
"aa_length": 1174,
"cds_start": 3482,
"cds_end": null,
"cds_length": 3525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440804.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3482A>C",
"hgvs_p": "p.Tyr1161Ser",
"transcript": "ENST00000897871.1",
"protein_id": "ENSP00000567930.1",
"transcript_support_level": null,
"aa_start": 1161,
"aa_end": null,
"aa_length": 1174,
"cds_start": 3482,
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}
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}