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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: 2-171725598-G-GTTTTTTT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=171725598&ref=G&alt=GTTTTTTT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 171725598,
"ref": "G",
"alt": "GTTTTTTT",
"effect": "splice_region_variant,intron_variant",
"transcript": "NM_001378.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.512-10_512-4dupTTTTTTT",
"hgvs_p": null,
"transcript": "NM_001378.3",
"protein_id": "NP_001369.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 638,
"cds_start": -4,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4354,
"mane_select": "ENST00000397119.8",
"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": 18,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.512-20_512-19insTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000397119.8",
"protein_id": "ENSP00000380308.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 638,
"cds_start": -4,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4354,
"mane_select": "NM_001378.3",
"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": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.434-20_434-19insTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000340296.8",
"protein_id": "ENSP00000339430.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 612,
"cds_start": -4,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2589,
"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": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.434-20_434-19insTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000409197.5",
"protein_id": "ENSP00000386397.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 612,
"cds_start": -4,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2572,
"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": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.434-20_434-19insTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000508530.5",
"protein_id": "ENSP00000423339.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 611,
"cds_start": -4,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2494,
"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": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "n.665-20_665-19insTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000482454.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 2590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.512-10_512-4dupTTTTTTT",
"hgvs_p": null,
"transcript": "NM_001271785.2",
"protein_id": "NP_001258714.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 638,
"cds_start": -4,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4314,
"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": 18,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.512-20_512-19insTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000409773.5",
"protein_id": "ENSP00000386415.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 638,
"cds_start": -4,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2583,
"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": 18,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.512-20_512-19insTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000409453.5",
"protein_id": "ENSP00000386886.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 637,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.494-10_494-4dupTTTTTTT",
"hgvs_p": null,
"transcript": "NM_001320882.2",
"protein_id": "NP_001307811.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
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"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "DYNC1I2",
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"hgvs_c": "c.494-10_494-4dupTTTTTTT",
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"transcript": "NM_001320883.2",
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},
{
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],
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"gene_symbol": "DYNC1I2",
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},
{
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],
"exon_rank": null,
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"gene_symbol": "DYNC1I2",
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},
{
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],
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{
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],
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"gene_symbol": "DYNC1I2",
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"hgvs_c": "c.488-10_488-4dupTTTTTTT",
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"transcript": "NM_001271786.2",
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},
{
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],
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],
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"gene_symbol": "DYNC1I2",
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"hgvs_c": "c.488-20_488-19insTTTTTTT",
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"transcript": "ENST00000410079.7",
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},
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],
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"intron_rank": 5,
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"gene_symbol": "DYNC1I2",
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"hgvs_c": "c.434-10_434-4dupTTTTTTT",
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"transcript": "NM_001271788.2",
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],
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],
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},
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],
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},
{
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"protein_coding": true,
"strand": true,
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],
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"exon_count": 9,
"intron_rank": 5,
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"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.434-20_434-19insTTTTTTT",
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"protein_id": "ENSP00000410807.1",
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},
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}
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}