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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: 6-53294778-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=53294778&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 53294778,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001242828.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.58+864A>G",
"hgvs_p": null,
"transcript": "NM_021814.5",
"protein_id": "NP_068586.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 299,
"cds_start": null,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000304434.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021814.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.58+864A>G",
"hgvs_p": null,
"transcript": "ENST00000304434.11",
"protein_id": "ENSP00000306640.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 299,
"cds_start": null,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021814.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304434.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.58+864A>G",
"hgvs_p": null,
"transcript": "ENST00000542638.5",
"protein_id": "ENSP00000440728.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 262,
"cds_start": null,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542638.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.59-287A>G",
"hgvs_p": null,
"transcript": "ENST00000370913.5",
"protein_id": "ENSP00000359951.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 88,
"cds_start": null,
"cds_end": null,
"cds_length": 267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370913.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.58+864A>G",
"hgvs_p": null,
"transcript": "NM_001242828.2",
"protein_id": "NP_001229757.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 326,
"cds_start": null,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242828.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.58+864A>G",
"hgvs_p": null,
"transcript": "ENST00000370918.8",
"protein_id": "ENSP00000359956.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 326,
"cds_start": null,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370918.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.58+864A>G",
"hgvs_p": null,
"transcript": "ENST00000954546.1",
"protein_id": "ENSP00000624605.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 308,
"cds_start": null,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954546.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.58+864A>G",
"hgvs_p": null,
"transcript": "NM_001301856.2",
"protein_id": "NP_001288785.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 299,
"cds_start": null,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301856.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.58+864A>G",
"hgvs_p": null,
"transcript": "ENST00000893711.1",
"protein_id": "ENSP00000563770.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 299,
"cds_start": null,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893711.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.58+864A>G",
"hgvs_p": null,
"transcript": "ENST00000893717.1",
"protein_id": "ENSP00000563776.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 299,
"cds_start": null,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893717.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.58+864A>G",
"hgvs_p": null,
"transcript": "ENST00000893718.1",
"protein_id": "ENSP00000563777.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 299,
"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": "ENST00000893718.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.58+864A>G",
"hgvs_p": null,
"transcript": "ENST00000893719.1",
"protein_id": "ENSP00000563778.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 299,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893719.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.58+864A>G",
"hgvs_p": null,
"transcript": "ENST00000893720.1",
"protein_id": "ENSP00000563779.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 299,
"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": "ENST00000893720.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "ELOVL5",
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"hgvs_c": "c.58+864A>G",
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"transcript": "ENST00000893721.1",
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"cdna_start": null,
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"feature": "ENST00000893721.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.58+864A>G",
"hgvs_p": null,
"transcript": "ENST00000893722.1",
"protein_id": "ENSP00000563781.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 299,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893722.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 3,
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"gene_symbol": "ELOVL5",
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"hgvs_c": "c.58+864A>G",
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"transcript": "ENST00000926657.1",
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"biotype": "protein_coding",
"feature": "ENST00000926657.1"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.58+864A>G",
"hgvs_p": null,
"transcript": "ENST00000954545.1",
"protein_id": "ENSP00000624604.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000954545.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.58+864A>G",
"hgvs_p": null,
"transcript": "ENST00000954548.1",
"protein_id": "ENSP00000624607.1",
"transcript_support_level": null,
"aa_start": null,
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},
{
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"strand": false,
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],
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"intron_rank": 2,
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"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.58+864A>G",
"hgvs_p": null,
"transcript": "ENST00000893713.1",
"protein_id": "ENSP00000563772.1",
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
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"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.58+864A>G",
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"transcript": "ENST00000893716.1",
"protein_id": "ENSP00000563775.1",
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.58+864A>G",
"hgvs_p": null,
"transcript": "ENST00000893714.1",
"protein_id": "ENSP00000563773.1",
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893714.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.58+864A>G",
"hgvs_p": null,
"transcript": "ENST00000926656.1",
"protein_id": "ENSP00000596715.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 273,
"cds_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926656.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
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"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
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}
],
"message": null
}