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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: 14-104774967-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=104774967&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 104774967,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000649815.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Leu202Leu",
"transcript": "NM_001382430.1",
"protein_id": "NP_001369359.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 480,
"cds_start": 604,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1126,
"cdna_end": null,
"cdna_length": 2957,
"mane_select": "ENST00000649815.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Leu202Leu",
"transcript": "ENST00000649815.2",
"protein_id": "ENSP00000497822.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 480,
"cds_start": 604,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1126,
"cdna_end": null,
"cdna_length": 2957,
"mane_select": "NM_001382430.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Leu202Leu",
"transcript": "ENST00000349310.7",
"protein_id": "ENSP00000270202.4",
"transcript_support_level": 1,
"aa_start": 202,
"aa_end": null,
"aa_length": 480,
"cds_start": 604,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1035,
"cdna_end": null,
"cdna_length": 2866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Leu202Leu",
"transcript": "ENST00000402615.6",
"protein_id": "ENSP00000385326.2",
"transcript_support_level": 1,
"aa_start": 202,
"aa_end": null,
"aa_length": 480,
"cds_start": 604,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 2085,
"cdna_end": null,
"cdna_length": 3913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Leu202Leu",
"transcript": "ENST00000407796.7",
"protein_id": "ENSP00000384293.2",
"transcript_support_level": 1,
"aa_start": 202,
"aa_end": null,
"aa_length": 480,
"cds_start": 604,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 948,
"cdna_end": null,
"cdna_length": 2779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Leu202Leu",
"transcript": "ENST00000554581.5",
"protein_id": "ENSP00000451828.1",
"transcript_support_level": 1,
"aa_start": 202,
"aa_end": null,
"aa_length": 480,
"cds_start": 604,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 2085,
"cdna_end": null,
"cdna_length": 3916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Leu202Leu",
"transcript": "ENST00000554848.5",
"protein_id": "ENSP00000451166.1",
"transcript_support_level": 1,
"aa_start": 202,
"aa_end": null,
"aa_length": 480,
"cds_start": 604,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 756,
"cdna_end": null,
"cdna_length": 1595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Leu202Leu",
"transcript": "ENST00000555528.5",
"protein_id": "ENSP00000450688.1",
"transcript_support_level": 1,
"aa_start": 202,
"aa_end": null,
"aa_length": 480,
"cds_start": 604,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1257,
"cdna_end": null,
"cdna_length": 3066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Leu202Leu",
"transcript": "ENST00000714130.1",
"protein_id": "ENSP00000519419.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 529,
"cds_start": 604,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1182,
"cdna_end": null,
"cdna_length": 3155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Leu202Leu",
"transcript": "ENST00000553797.2",
"protein_id": "ENSP00000507566.1",
"transcript_support_level": 3,
"aa_start": 202,
"aa_end": null,
"aa_length": 505,
"cds_start": 604,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1852,
"cdna_end": null,
"cdna_length": 3711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Leu202Leu",
"transcript": "NM_001014431.2",
"protein_id": "NP_001014431.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 480,
"cds_start": 604,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 948,
"cdna_end": null,
"cdna_length": 2779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Leu202Leu",
"transcript": "NM_001014432.2",
"protein_id": "NP_001014432.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 480,
"cds_start": 604,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1032,
"cdna_end": null,
"cdna_length": 2863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Leu202Leu",
"transcript": "NM_001382431.1",
"protein_id": "NP_001369360.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 480,
"cds_start": 604,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1091,
"cdna_end": null,
"cdna_length": 2922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Leu202Leu",
"transcript": "NM_001382432.1",
"protein_id": "NP_001369361.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 480,
"cds_start": 604,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1175,
"cdna_end": null,
"cdna_length": 3006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Leu202Leu",
"transcript": "NM_001382433.1",
"protein_id": "NP_001369362.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 480,
"cds_start": 604,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1244,
"cdna_end": null,
"cdna_length": 3075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Leu202Leu",
"transcript": "NM_005163.2",
"protein_id": "NP_005154.2",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 480,
"cds_start": 604,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1158,
"cdna_end": null,
"cdna_length": 2989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Leu202Leu",
"transcript": "ENST00000683722.1",
"protein_id": "ENSP00000507879.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 480,
"cds_start": 604,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 800,
"cdna_end": null,
"cdna_length": 2609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Leu202Leu",
"transcript": "ENST00000555458.6",
"protein_id": "ENSP00000451470.3",
"transcript_support_level": 2,
"aa_start": 202,
"aa_end": null,
"aa_length": 467,
"cds_start": 604,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 948,
"cdna_end": null,
"cdna_length": 1942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Leu202Leu",
"transcript": "ENST00000554192.6",
"protein_id": "ENSP00000450681.3",
"transcript_support_level": 2,
"aa_start": 202,
"aa_end": null,
"aa_length": 447,
"cds_start": 604,
"cds_end": null,
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"cdna_start": 948,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Leu202Leu",
"transcript": "ENST00000714123.1",
"protein_id": "ENSP00000519414.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 438,
"cds_start": 604,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 959,
"cdna_end": null,
"cdna_length": 2664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Leu202Leu",
"transcript": "XM_047431069.1",
"protein_id": "XP_047287025.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 480,
"cds_start": 604,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1950,
"cdna_end": null,
"cdna_length": 3781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Leu202Leu",
"transcript": "XM_047431070.1",
"protein_id": "XP_047287026.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 480,
"cds_start": 604,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1738,
"cdna_end": null,
"cdna_length": 3569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Leu202Leu",
"transcript": "XM_047431071.1",
"protein_id": "XP_047287027.1",
"transcript_support_level": null,
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{
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"phenotype_combined": "Cowden syndrome 6|not specified|not provided",
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}
],
"message": null
}