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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: 17-75618714-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75618714&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 75618714,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000645453.3",
"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": 64,
"intron_rank": 43,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "c.6988-429C>T",
"hgvs_p": null,
"transcript": "NM_001395058.1",
"protein_id": "NP_001381987.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3096,
"cds_start": -4,
"cds_end": null,
"cds_length": 9291,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9914,
"mane_select": "ENST00000645453.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 64,
"intron_rank": 43,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "c.6988-429C>T",
"hgvs_p": null,
"transcript": "ENST00000645453.3",
"protein_id": "ENSP00000495242.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3096,
"cds_start": -4,
"cds_end": null,
"cds_length": 9291,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9914,
"mane_select": "NM_001395058.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 63,
"intron_rank": 42,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "c.6874-429C>T",
"hgvs_p": null,
"transcript": "NM_001309242.2",
"protein_id": "NP_001296171.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3058,
"cds_start": -4,
"cds_end": null,
"cds_length": 9177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 42,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "c.2545-429C>T",
"hgvs_p": null,
"transcript": "ENST00000642007.2",
"protein_id": "ENSP00000492911.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1589,
"cds_start": -4,
"cds_end": null,
"cds_length": 4770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "n.*311-429C>T",
"hgvs_p": null,
"transcript": "ENST00000577342.5",
"protein_id": "ENSP00000488316.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "n.384-429C>T",
"hgvs_p": null,
"transcript": "ENST00000578300.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "n.272-429C>T",
"hgvs_p": null,
"transcript": "ENST00000578960.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": 43,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "n.*2730-429C>T",
"hgvs_p": null,
"transcript": "ENST00000610510.5",
"protein_id": "ENSP00000488624.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "n.*1373-429C>T",
"hgvs_p": null,
"transcript": "ENST00000612587.4",
"protein_id": "ENSP00000488771.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "n.*4260-429C>T",
"hgvs_p": null,
"transcript": "ENST00000619501.4",
"protein_id": "ENSP00000488884.1",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 59,
"intron_rank": 39,
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"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "n.*2208-429C>T",
"hgvs_p": null,
"transcript": "ENST00000621743.5",
"protein_id": "ENSP00000487811.2",
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},
{
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"strand": true,
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],
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"exon_count": 51,
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},
{
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],
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"gene_symbol": "MYO15B",
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"hgvs_c": "n.*2730-429C>T",
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"transcript": "ENST00000687098.1",
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},
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],
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"gene_symbol": "MYO15B",
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"hgvs_c": "n.*1770-429C>T",
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},
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],
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},
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],
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],
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"gene_symbol": "MYO15B",
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"hgvs_c": "c.6334-429C>T",
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"transcript": "XM_017025123.3",
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],
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"gene_symbol": "MYO15B",
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"transcript": "XM_017025127.3",
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},
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],
"exon_rank": null,
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"exon_count": 64,
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"gene_symbol": "MYO15B",
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"hgvs_c": "c.5620-429C>T",
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