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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: 9-133153735-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=133153735&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 133153735,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_021996.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.886C>T",
"hgvs_p": "p.Arg296Trp",
"transcript": "NM_021996.6",
"protein_id": "NP_068836.2",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 347,
"cds_start": 886,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372040.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021996.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.886C>T",
"hgvs_p": "p.Arg296Trp",
"transcript": "ENST00000372040.9",
"protein_id": "ENSP00000361110.3",
"transcript_support_level": 1,
"aa_start": 296,
"aa_end": null,
"aa_length": 347,
"cds_start": 886,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021996.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372040.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.*1439C>T",
"hgvs_p": null,
"transcript": "ENST00000470431.5",
"protein_id": "ENSP00000495017.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 120,
"cds_start": null,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000470431.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285245",
"gene_hgnc_id": null,
"hgvs_c": "c.396+1443C>T",
"hgvs_p": null,
"transcript": "ENST00000647146.1",
"protein_id": "ENSP00000493691.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 985,
"cds_start": null,
"cds_end": null,
"cds_length": 2958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647146.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.955C>T",
"hgvs_p": "p.Arg319Trp",
"transcript": "ENST00000953305.1",
"protein_id": "ENSP00000623364.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 370,
"cds_start": 955,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953305.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.934C>T",
"hgvs_p": "p.Arg312Trp",
"transcript": "ENST00000953298.1",
"protein_id": "ENSP00000623357.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 363,
"cds_start": 934,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953298.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Arg302Trp",
"transcript": "ENST00000913414.1",
"protein_id": "ENSP00000583473.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 353,
"cds_start": 904,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913414.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Arg302Trp",
"transcript": "ENST00000953297.1",
"protein_id": "ENSP00000623356.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 353,
"cds_start": 904,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953297.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Arg302Trp",
"transcript": "ENST00000953302.1",
"protein_id": "ENSP00000623361.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 353,
"cds_start": 904,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953302.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.886C>T",
"hgvs_p": "p.Arg296Trp",
"transcript": "ENST00000900751.1",
"protein_id": "ENSP00000570810.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 347,
"cds_start": 886,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900751.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.886C>T",
"hgvs_p": "p.Arg296Trp",
"transcript": "ENST00000913413.1",
"protein_id": "ENSP00000583472.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 347,
"cds_start": 886,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913413.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.886C>T",
"hgvs_p": "p.Arg296Trp",
"transcript": "ENST00000953293.1",
"protein_id": "ENSP00000623352.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 347,
"cds_start": 886,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953293.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.886C>T",
"hgvs_p": "p.Arg296Trp",
"transcript": "ENST00000953294.1",
"protein_id": "ENSP00000623353.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 347,
"cds_start": 886,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953294.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.886C>T",
"hgvs_p": "p.Arg296Trp",
"transcript": "ENST00000953300.1",
"protein_id": "ENSP00000623359.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 347,
"cds_start": 886,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953300.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.883C>T",
"hgvs_p": "p.Arg295Trp",
"transcript": "ENST00000953301.1",
"protein_id": "ENSP00000623360.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 346,
"cds_start": 883,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953301.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.862C>T",
"hgvs_p": "p.Arg288Trp",
"transcript": "ENST00000900748.1",
"protein_id": "ENSP00000570807.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 339,
"cds_start": 862,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900748.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.862C>T",
"hgvs_p": "p.Arg288Trp",
"transcript": "ENST00000953304.1",
"protein_id": "ENSP00000623363.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 339,
"cds_start": 862,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953304.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.835C>T",
"hgvs_p": "p.Arg279Trp",
"transcript": "NM_001282632.2",
"protein_id": "NP_001269561.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 330,
"cds_start": 835,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282632.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.835C>T",
"hgvs_p": "p.Arg279Trp",
"transcript": "ENST00000540636.6",
"protein_id": "ENSP00000437663.1",
"transcript_support_level": 2,
"aa_start": 279,
"aa_end": null,
"aa_length": 330,
"cds_start": 835,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540636.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.769C>T",
"hgvs_p": "p.Arg257Trp",
"transcript": "ENST00000900749.1",
"protein_id": "ENSP00000570808.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 308,
"cds_start": 769,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900749.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.769C>T",
"hgvs_p": "p.Arg257Trp",
"transcript": "ENST00000953295.1",
"protein_id": "ENSP00000623354.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 308,
"cds_start": 769,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953295.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.769C>T",
"hgvs_p": "p.Arg257Trp",
"transcript": "ENST00000953296.1",
"protein_id": "ENSP00000623355.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 308,
"cds_start": 769,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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}
],
"message": null
}