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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: 17-67975933-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=67975933&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 67975933,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000306378.11",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.8701A>G",
"hgvs_p": "p.Lys2901Glu",
"transcript": "NM_182641.4",
"protein_id": "NP_872579.2",
"transcript_support_level": null,
"aa_start": 2901,
"aa_end": null,
"aa_length": 2920,
"cds_start": 8701,
"cds_end": null,
"cds_length": 8763,
"cdna_start": 8923,
"cdna_end": null,
"cdna_length": 11075,
"mane_select": "ENST00000306378.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.8701A>G",
"hgvs_p": "p.Lys2901Glu",
"transcript": "ENST00000306378.11",
"protein_id": "ENSP00000307208.6",
"transcript_support_level": 1,
"aa_start": 2901,
"aa_end": null,
"aa_length": 2920,
"cds_start": 8701,
"cds_end": null,
"cds_length": 8763,
"cdna_start": 8923,
"cdna_end": null,
"cdna_length": 11075,
"mane_select": "NM_182641.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.8515A>G",
"hgvs_p": "p.Lys2839Glu",
"transcript": "ENST00000342579.8",
"protein_id": "ENSP00000343837.5",
"transcript_support_level": 1,
"aa_start": 2839,
"aa_end": null,
"aa_length": 2858,
"cds_start": 8515,
"cds_end": null,
"cds_length": 8577,
"cdna_start": 8516,
"cdna_end": null,
"cdna_length": 10607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.8233A>G",
"hgvs_p": "p.Lys2745Glu",
"transcript": "ENST00000424123.7",
"protein_id": "ENSP00000388405.3",
"transcript_support_level": 1,
"aa_start": 2745,
"aa_end": null,
"aa_length": 2764,
"cds_start": 8233,
"cds_end": null,
"cds_length": 8295,
"cdna_start": 8233,
"cdna_end": null,
"cdna_length": 8295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.9415A>G",
"hgvs_p": "p.Lys3139Glu",
"transcript": "ENST00000582467.2",
"protein_id": "ENSP00000463776.2",
"transcript_support_level": 5,
"aa_start": 3139,
"aa_end": null,
"aa_length": 3158,
"cds_start": 9415,
"cds_end": null,
"cds_length": 9477,
"cdna_start": 9637,
"cdna_end": null,
"cdna_length": 11789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.9079A>G",
"hgvs_p": "p.Lys3027Glu",
"transcript": "ENST00000321892.8",
"protein_id": "ENSP00000315454.4",
"transcript_support_level": 5,
"aa_start": 3027,
"aa_end": null,
"aa_length": 3046,
"cds_start": 9079,
"cds_end": null,
"cds_length": 9141,
"cdna_start": 9140,
"cdna_end": null,
"cdna_length": 11292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.8944A>G",
"hgvs_p": "p.Lys2982Glu",
"transcript": "ENST00000644067.1",
"protein_id": "ENSP00000496182.2",
"transcript_support_level": null,
"aa_start": 2982,
"aa_end": null,
"aa_length": 3001,
"cds_start": 8944,
"cds_end": null,
"cds_length": 9006,
"cdna_start": 8945,
"cdna_end": null,
"cdna_length": 11036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.8890A>G",
"hgvs_p": "p.Lys2964Glu",
"transcript": "NM_001439139.1",
"protein_id": "NP_001426068.1",
"transcript_support_level": null,
"aa_start": 2964,
"aa_end": null,
"aa_length": 2983,
"cds_start": 8890,
"cds_end": null,
"cds_length": 8952,
"cdna_start": 9112,
"cdna_end": null,
"cdna_length": 11264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.8824A>G",
"hgvs_p": "p.Lys2942Glu",
"transcript": "NM_001439140.1",
"protein_id": "NP_001426069.1",
"transcript_support_level": null,
"aa_start": 2942,
"aa_end": null,
"aa_length": 2961,
"cds_start": 8824,
"cds_end": null,
"cds_length": 8886,
"cdna_start": 9046,
"cdna_end": null,
"cdna_length": 11198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.8797A>G",
"hgvs_p": "p.Lys2933Glu",
"transcript": "NM_001439141.1",
"protein_id": "NP_001426070.1",
"transcript_support_level": null,
"aa_start": 2933,
"aa_end": null,
"aa_length": 2952,
"cds_start": 8797,
"cds_end": null,
"cds_length": 8859,
"cdna_start": 9019,
"cdna_end": null,
"cdna_length": 11171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.8650A>G",
"hgvs_p": "p.Lys2884Glu",
"transcript": "NM_004459.7",
"protein_id": "NP_004450.3",
"transcript_support_level": null,
"aa_start": 2884,
"aa_end": null,
"aa_length": 2903,
"cds_start": 8650,
"cds_end": null,
"cds_length": 8712,
"cdna_start": 8872,
"cdna_end": null,
"cdna_length": 11024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.8650A>G",
"hgvs_p": "p.Lys2884Glu",
"transcript": "NM_001439142.1",
"protein_id": "NP_001426071.1",
"transcript_support_level": null,
"aa_start": 2884,
"aa_end": null,
"aa_length": 2893,
"cds_start": 8650,
"cds_end": null,
"cds_length": 8682,
"cdna_start": 8872,
"cdna_end": null,
"cdna_length": 9224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.8461A>G",
"hgvs_p": "p.Lys2821Glu",
"transcript": "NM_001439143.1",
"protein_id": "NP_001426072.1",
"transcript_support_level": null,
"aa_start": 2821,
"aa_end": null,
"aa_length": 2840,
"cds_start": 8461,
"cds_end": null,
"cds_length": 8523,
"cdna_start": 8683,
"cdna_end": null,
"cdna_length": 10835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.8461A>G",
"hgvs_p": "p.Lys2821Glu",
"transcript": "NM_001439144.1",
"protein_id": "NP_001426073.1",
"transcript_support_level": null,
"aa_start": 2821,
"aa_end": null,
"aa_length": 2840,
"cds_start": 8461,
"cds_end": null,
"cds_length": 8523,
"cdna_start": 8683,
"cdna_end": null,
"cdna_length": 10835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.1228A>G",
"hgvs_p": "p.Lys410Glu",
"transcript": "ENST00000581258.5",
"protein_id": "ENSP00000463845.1",
"transcript_support_level": 2,
"aa_start": 410,
"aa_end": null,
"aa_length": 419,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1230,
"cdna_end": null,
"cdna_length": 1582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.130A>G",
"hgvs_p": "p.Lys44Glu",
"transcript": "ENST00000577837.1",
"protein_id": "ENSP00000462703.1",
"transcript_support_level": 3,
"aa_start": 44,
"aa_end": null,
"aa_length": 63,
"cds_start": 130,
"cds_end": null,
"cds_length": 192,
"cdna_start": 132,
"cdna_end": null,
"cdna_length": 594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.9415A>G",
"hgvs_p": "p.Lys3139Glu",
"transcript": "XM_005257150.4",
"protein_id": "XP_005257207.1",
"transcript_support_level": null,
"aa_start": 3139,
"aa_end": null,
"aa_length": 3158,
"cds_start": 9415,
"cds_end": null,
"cds_length": 9477,
"cdna_start": 9637,
"cdna_end": null,
"cdna_length": 11789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.9412A>G",
"hgvs_p": "p.Lys3138Glu",
"transcript": "XM_005257151.4",
"protein_id": "XP_005257208.1",
"transcript_support_level": null,
"aa_start": 3138,
"aa_end": null,
"aa_length": 3157,
"cds_start": 9412,
"cds_end": null,
"cds_length": 9474,
"cdna_start": 9634,
"cdna_end": null,
"cdna_length": 11786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.9412A>G",
"hgvs_p": "p.Lys3138Glu",
"transcript": "XM_011524520.3",
"protein_id": "XP_011522822.1",
"transcript_support_level": null,
"aa_start": 3138,
"aa_end": null,
"aa_length": 3157,
"cds_start": 9412,
"cds_end": null,
"cds_length": 9474,
"cdna_start": 9634,
"cdna_end": null,
"cdna_length": 11786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.9415A>G",
"hgvs_p": "p.Lys3139Glu",
"transcript": "XM_005257152.4",
"protein_id": "XP_005257209.1",
"transcript_support_level": null,
"aa_start": 3139,
"aa_end": null,
"aa_length": 3148,
"cds_start": 9415,
"cds_end": null,
"cds_length": 9447,
"cdna_start": 9637,
"cdna_end": null,
"cdna_length": 9989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.9253A>G",
"hgvs_p": "p.Lys3085Glu",
"transcript": "XM_005257153.4",
"protein_id": "XP_005257210.1",
"transcript_support_level": null,
"aa_start": 3085,
"aa_end": null,
"aa_length": 3104,
"cds_start": 9253,
"cds_end": null,
"cds_length": 9315,
"cdna_start": 9475,
"cdna_end": null,
"cdna_length": 11627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.9241A>G",
"hgvs_p": "p.Lys3081Glu",
"transcript": "XM_005257154.4",
"protein_id": "XP_005257211.1",
"transcript_support_level": null,
"aa_start": 3081,
"aa_end": null,
"aa_length": 3100,
"cds_start": 9241,
"cds_end": null,
"cds_length": 9303,
"cdna_start": 9463,
"cdna_end": null,
"cdna_length": 11615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
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}