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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: 17-67902693-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=67902693&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 67902693,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001439139.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.2544-1096G>A",
"hgvs_p": null,
"transcript": "NM_182641.4",
"protein_id": "NP_872579.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2920,
"cds_start": null,
"cds_end": null,
"cds_length": 8763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000306378.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182641.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.2544-1096G>A",
"hgvs_p": null,
"transcript": "ENST00000306378.11",
"protein_id": "ENSP00000307208.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2920,
"cds_start": null,
"cds_end": null,
"cds_length": 8763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_182641.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000306378.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.2613-1096G>A",
"hgvs_p": null,
"transcript": "ENST00000342579.8",
"protein_id": "ENSP00000343837.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2858,
"cds_start": null,
"cds_end": null,
"cds_length": 8577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342579.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.2505-1096G>A",
"hgvs_p": null,
"transcript": "ENST00000424123.7",
"protein_id": "ENSP00000388405.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2764,
"cds_start": null,
"cds_end": null,
"cds_length": 8295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424123.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.2922-1096G>A",
"hgvs_p": null,
"transcript": "ENST00000582467.2",
"protein_id": "ENSP00000463776.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 3158,
"cds_start": null,
"cds_end": null,
"cds_length": 9477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000582467.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.2922-1096G>A",
"hgvs_p": null,
"transcript": "ENST00000321892.8",
"protein_id": "ENSP00000315454.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 3046,
"cds_start": null,
"cds_end": null,
"cds_length": 9141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321892.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.2613-1096G>A",
"hgvs_p": null,
"transcript": "ENST00000644067.1",
"protein_id": "ENSP00000496182.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3001,
"cds_start": null,
"cds_end": null,
"cds_length": 9006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644067.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.2733-1096G>A",
"hgvs_p": null,
"transcript": "NM_001439139.1",
"protein_id": "NP_001426068.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2983,
"cds_start": null,
"cds_end": null,
"cds_length": 8952,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439139.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.2922-1096G>A",
"hgvs_p": null,
"transcript": "NM_001439140.1",
"protein_id": "NP_001426069.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2961,
"cds_start": null,
"cds_end": null,
"cds_length": 8886,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439140.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.2733-1096G>A",
"hgvs_p": null,
"transcript": "NM_001439141.1",
"protein_id": "NP_001426070.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2952,
"cds_start": null,
"cds_end": null,
"cds_length": 8859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439141.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.2922-1096G>A",
"hgvs_p": null,
"transcript": "NM_004459.7",
"protein_id": "NP_004450.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2903,
"cds_start": null,
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"cds_length": 8712,
"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_004459.7"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 30,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.2922-1096G>A",
"hgvs_p": null,
"transcript": "NM_001439142.1",
"protein_id": "NP_001426071.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 2893,
"cds_start": null,
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"cds_length": 8682,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439142.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.2733-1096G>A",
"hgvs_p": null,
"transcript": "NM_001439143.1",
"protein_id": "NP_001426072.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439143.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 29,
"intron_rank": 8,
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"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.2733-1096G>A",
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"transcript": "NM_001439144.1",
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"biotype": "protein_coding",
"feature": "NM_001439144.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.2733-1096G>A",
"hgvs_p": null,
"transcript": "ENST00000544778.6",
"protein_id": "ENSP00000440854.2",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": 2456,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000544778.6"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 32,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.2922-1096G>A",
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"transcript": "XM_005257150.4",
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"biotype": "protein_coding",
"feature": "XM_005257150.4"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.2919-1096G>A",
"hgvs_p": null,
"transcript": "XM_005257151.4",
"protein_id": "XP_005257208.1",
"transcript_support_level": null,
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"biotype": "protein_coding",
"feature": "XM_005257151.4"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.2919-1096G>A",
"hgvs_p": null,
"transcript": "XM_011524520.3",
"protein_id": "XP_011522822.1",
"transcript_support_level": null,
"aa_start": null,
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"feature": "XM_011524520.3"
},
{
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"strand": true,
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"intron_variant"
],
"exon_rank": null,
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"intron_rank": 9,
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"gene_symbol": "BPTF",
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"hgvs_c": "c.2922-1096G>A",
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"transcript": "XM_005257152.4",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"intron_rank": 9,
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"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.2922-1096G>A",
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"transcript": "XM_005257153.4",
"protein_id": "XP_005257210.1",
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},
{
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"protein_coding": true,
"strand": true,
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"intron_variant"
],
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"intron_rank": 9,
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"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.2922-1096G>A",
"hgvs_p": null,
"transcript": "XM_005257154.4",
"protein_id": "XP_005257211.1",
"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005257154.4"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.2733-1096G>A",
"hgvs_p": null,
"transcript": "XM_005257155.4",
"protein_id": "XP_005257212.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 3095,
"cds_start": null,
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"cds_length": 9288,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005257155.4"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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