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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: 2-171725602-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=171725602&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 171725602,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_001378.3",
"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": 18,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.512-16T>G",
"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": null,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000397119.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378.3"
},
{
"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.512-16T>G",
"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": null,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001378.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397119.8"
},
{
"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": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.434-16T>G",
"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": null,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340296.8"
},
{
"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": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.434-16T>G",
"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": null,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409197.5"
},
{
"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.434-16T>G",
"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": null,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508530.5"
},
{
"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.665-16T>G",
"hgvs_p": null,
"transcript": "ENST00000482454.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000482454.5"
},
{
"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": 20,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.665-16T>G",
"hgvs_p": null,
"transcript": "ENST00000959548.1",
"protein_id": "ENSP00000629607.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 688,
"cds_start": null,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959548.1"
},
{
"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": 18,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.512-16T>G",
"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": null,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271785.2"
},
{
"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": 18,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.512-16T>G",
"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": null,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409773.5"
},
{
"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.512-16T>G",
"hgvs_p": null,
"transcript": "ENST00000959553.1",
"protein_id": "ENSP00000629612.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 638,
"cds_start": null,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959553.1"
},
{
"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": 18,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.512-16T>G",
"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": null,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409453.5"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.494-16T>G",
"hgvs_p": null,
"transcript": "NM_001320882.2",
"protein_id": "NP_001307811.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 632,
"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_001320882.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.494-16T>G",
"hgvs_p": null,
"transcript": "NM_001320883.2",
"protein_id": "NP_001307812.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 632,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320883.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.494-16T>G",
"hgvs_p": null,
"transcript": "ENST00000409317.5",
"protein_id": "ENSP00000386591.1",
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000409317.5"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.494-16T>G",
"hgvs_p": null,
"transcript": "ENST00000869671.1",
"protein_id": "ENSP00000539730.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 632,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869671.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.494-16T>G",
"hgvs_p": null,
"transcript": "ENST00000869673.1",
"protein_id": "ENSP00000539732.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000869673.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.494-16T>G",
"hgvs_p": null,
"transcript": "NM_001378455.1",
"protein_id": "NP_001365384.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 631,
"cds_start": null,
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"cds_length": 1896,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378455.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.494-16T>G",
"hgvs_p": null,
"transcript": "NM_001378456.1",
"protein_id": "NP_001365385.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001378456.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"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.494-16T>G",
"hgvs_p": null,
"transcript": "ENST00000869665.1",
"protein_id": "ENSP00000539724.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.488-16T>G",
"hgvs_p": null,
"transcript": "NM_001271786.2",
"protein_id": "NP_001258715.1",
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"cds_start": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.488-16T>G",
"hgvs_p": null,
"transcript": "NM_001271787.2",
"protein_id": "NP_001258716.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cds_length": 1893,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271787.2"
},
{
"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": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DYNC1I2",
"gene_hgnc_id": 2964,
"hgvs_c": "c.488-16T>G",
"hgvs_p": null,
"transcript": "ENST00000410079.7",
"protein_id": "ENSP00000386522.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 630,
"cds_start": null,
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"cds_length": 1893,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000410079.7"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
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{
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"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}