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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: 14-104776719-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=104776719&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 104776719,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000649815.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.227G>T",
"hgvs_p": "p.Arg76Leu",
"transcript": "NM_001382430.1",
"protein_id": "NP_001369359.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 480,
"cds_start": 227,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 749,
"cdna_end": null,
"cdna_length": 2957,
"mane_select": "ENST00000649815.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.227G>T",
"hgvs_p": "p.Arg76Leu",
"transcript": "ENST00000649815.2",
"protein_id": "ENSP00000497822.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 480,
"cds_start": 227,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 749,
"cdna_end": null,
"cdna_length": 2957,
"mane_select": "NM_001382430.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.227G>T",
"hgvs_p": "p.Arg76Leu",
"transcript": "ENST00000349310.7",
"protein_id": "ENSP00000270202.4",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 480,
"cds_start": 227,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 658,
"cdna_end": null,
"cdna_length": 2866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.227G>T",
"hgvs_p": "p.Arg76Leu",
"transcript": "ENST00000402615.6",
"protein_id": "ENSP00000385326.2",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 480,
"cds_start": 227,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1708,
"cdna_end": null,
"cdna_length": 3913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.227G>T",
"hgvs_p": "p.Arg76Leu",
"transcript": "ENST00000407796.7",
"protein_id": "ENSP00000384293.2",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 480,
"cds_start": 227,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 571,
"cdna_end": null,
"cdna_length": 2779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.227G>T",
"hgvs_p": "p.Arg76Leu",
"transcript": "ENST00000554581.5",
"protein_id": "ENSP00000451828.1",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 480,
"cds_start": 227,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1708,
"cdna_end": null,
"cdna_length": 3916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.227G>T",
"hgvs_p": "p.Arg76Leu",
"transcript": "ENST00000554848.5",
"protein_id": "ENSP00000451166.1",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 480,
"cds_start": 227,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 379,
"cdna_end": null,
"cdna_length": 1595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.227G>T",
"hgvs_p": "p.Arg76Leu",
"transcript": "ENST00000555528.5",
"protein_id": "ENSP00000450688.1",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 480,
"cds_start": 227,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 880,
"cdna_end": null,
"cdna_length": 3066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.227G>T",
"hgvs_p": "p.Arg76Leu",
"transcript": "ENST00000714130.1",
"protein_id": "ENSP00000519419.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 529,
"cds_start": 227,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 805,
"cdna_end": null,
"cdna_length": 3155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.227G>T",
"hgvs_p": "p.Arg76Leu",
"transcript": "ENST00000553797.2",
"protein_id": "ENSP00000507566.1",
"transcript_support_level": 3,
"aa_start": 76,
"aa_end": null,
"aa_length": 505,
"cds_start": 227,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1475,
"cdna_end": null,
"cdna_length": 3711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.227G>T",
"hgvs_p": "p.Arg76Leu",
"transcript": "NM_001014431.2",
"protein_id": "NP_001014431.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 480,
"cds_start": 227,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 571,
"cdna_end": null,
"cdna_length": 2779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.227G>T",
"hgvs_p": "p.Arg76Leu",
"transcript": "NM_001014432.2",
"protein_id": "NP_001014432.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 480,
"cds_start": 227,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 655,
"cdna_end": null,
"cdna_length": 2863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.227G>T",
"hgvs_p": "p.Arg76Leu",
"transcript": "NM_001382431.1",
"protein_id": "NP_001369360.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 480,
"cds_start": 227,
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"cds_length": 1443,
"cdna_start": 714,
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"cdna_length": 2922,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.227G>T",
"hgvs_p": "p.Arg76Leu",
"transcript": "NM_001382432.1",
"protein_id": "NP_001369361.1",
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"aa_start": 76,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.227G>T",
"hgvs_p": "p.Arg76Leu",
"transcript": "NM_001382433.1",
"protein_id": "NP_001369362.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 480,
"cds_start": 227,
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"cdna_start": 867,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.227G>T",
"hgvs_p": "p.Arg76Leu",
"transcript": "NM_005163.2",
"protein_id": "NP_005154.2",
"transcript_support_level": null,
"aa_start": 76,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.227G>T",
"hgvs_p": "p.Arg76Leu",
"transcript": "ENST00000683722.1",
"protein_id": "ENSP00000507879.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 480,
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"cdna_start": 423,
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"cdna_length": 2609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.227G>T",
"hgvs_p": "p.Arg76Leu",
"transcript": "ENST00000555458.6",
"protein_id": "ENSP00000451470.3",
"transcript_support_level": 2,
"aa_start": 76,
"aa_end": null,
"aa_length": 467,
"cds_start": 227,
"cds_end": null,
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"cdna_start": 571,
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"mane_select": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.227G>T",
"hgvs_p": "p.Arg76Leu",
"transcript": "ENST00000554192.6",
"protein_id": "ENSP00000450681.3",
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},
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"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.227G>T",
"hgvs_p": "p.Arg76Leu",
"transcript": "ENST00000714123.1",
"protein_id": "ENSP00000519414.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "AKT1",
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"hgvs_c": "c.227G>T",
"hgvs_p": "p.Arg76Leu",
"transcript": "XM_047431069.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.227G>T",
"hgvs_p": "p.Arg76Leu",
"transcript": "XM_047431070.1",
"protein_id": "XP_047287026.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 480,
"cds_start": 227,
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"cdna_start": 1361,
"cdna_end": null,
"cdna_length": 3569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.227G>T",
"hgvs_p": "p.Arg76Leu",
"transcript": "XM_047431071.1",
"protein_id": "XP_047287027.1",
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}