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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: 22-50440025-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=50440025&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 50440025,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001365836.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2350C>T",
"hgvs_p": "p.Arg784Trp",
"transcript": "NM_001242898.2",
"protein_id": "NP_001229827.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 959,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2880,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000612753.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242898.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2350C>T",
"hgvs_p": "p.Arg784Trp",
"transcript": "ENST00000612753.5",
"protein_id": "ENSP00000478417.1",
"transcript_support_level": 2,
"aa_start": 784,
"aa_end": null,
"aa_length": 959,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2880,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001242898.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612753.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2350C>T",
"hgvs_p": "p.Arg784Trp",
"transcript": "ENST00000216061.9",
"protein_id": "ENSP00000216061.5",
"transcript_support_level": 1,
"aa_start": 784,
"aa_end": null,
"aa_length": 966,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216061.9"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2272C>T",
"hgvs_p": "p.Arg758Trp",
"transcript": "ENST00000395741.7",
"protein_id": "ENSP00000379090.3",
"transcript_support_level": 1,
"aa_start": 758,
"aa_end": null,
"aa_length": 933,
"cds_start": 2272,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395741.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2269C>T",
"hgvs_p": "p.Arg757Trp",
"transcript": "ENST00000395744.7",
"protein_id": "ENSP00000379093.3",
"transcript_support_level": 1,
"aa_start": 757,
"aa_end": null,
"aa_length": 932,
"cds_start": 2269,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395744.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2380C>T",
"hgvs_p": "p.Arg794Trp",
"transcript": "ENST00000906623.1",
"protein_id": "ENSP00000576682.1",
"transcript_support_level": null,
"aa_start": 794,
"aa_end": null,
"aa_length": 969,
"cds_start": 2380,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906623.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2353C>T",
"hgvs_p": "p.Arg785Trp",
"transcript": "ENST00000906628.1",
"protein_id": "ENSP00000576687.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 967,
"cds_start": 2353,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906628.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2353C>T",
"hgvs_p": "p.Arg785Trp",
"transcript": "ENST00000938142.1",
"protein_id": "ENSP00000608201.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 967,
"cds_start": 2353,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938142.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2353C>T",
"hgvs_p": "p.Arg785Trp",
"transcript": "ENST00000966967.1",
"protein_id": "ENSP00000637026.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 967,
"cds_start": 2353,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966967.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2350C>T",
"hgvs_p": "p.Arg784Trp",
"transcript": "NM_001365836.1",
"protein_id": "NP_001352765.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 966,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365836.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2350C>T",
"hgvs_p": "p.Arg784Trp",
"transcript": "ENST00000906618.1",
"protein_id": "ENSP00000576677.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 966,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906618.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2350C>T",
"hgvs_p": "p.Arg784Trp",
"transcript": "ENST00000906645.1",
"protein_id": "ENSP00000576704.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 966,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906645.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2350C>T",
"hgvs_p": "p.Arg784Trp",
"transcript": "ENST00000906649.1",
"protein_id": "ENSP00000576708.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 966,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906649.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2350C>T",
"hgvs_p": "p.Arg784Trp",
"transcript": "ENST00000966975.1",
"protein_id": "ENSP00000637034.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 966,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966975.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2371C>T",
"hgvs_p": "p.Arg791Trp",
"transcript": "ENST00000966986.1",
"protein_id": "ENSP00000637045.1",
"transcript_support_level": null,
"aa_start": 791,
"aa_end": null,
"aa_length": 966,
"cds_start": 2371,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966986.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2356C>T",
"hgvs_p": "p.Arg786Trp",
"transcript": "ENST00000906621.1",
"protein_id": "ENSP00000576680.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 961,
"cds_start": 2356,
"cds_end": null,
"cds_length": 2886,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906621.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2353C>T",
"hgvs_p": "p.Arg785Trp",
"transcript": "NM_001351641.2",
"protein_id": "NP_001338570.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 960,
"cds_start": 2353,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351641.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2353C>T",
"hgvs_p": "p.Arg785Trp",
"transcript": "NM_001351642.2",
"protein_id": "NP_001338571.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 960,
"cds_start": 2353,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351642.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2353C>T",
"hgvs_p": "p.Arg785Trp",
"transcript": "ENST00000906614.1",
"protein_id": "ENSP00000576673.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 960,
"cds_start": 2353,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906614.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2353C>T",
"hgvs_p": "p.Arg785Trp",
"transcript": "ENST00000906617.1",
"protein_id": "ENSP00000576676.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 960,
"cds_start": 2353,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906617.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2353C>T",
"hgvs_p": "p.Arg785Trp",
"transcript": "ENST00000906624.1",
"protein_id": "ENSP00000576683.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 960,
"cds_start": 2353,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906624.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2353C>T",
"hgvs_p": "p.Arg785Trp",
"transcript": "ENST00000906627.1",
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}
],
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}