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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: 8-73964168-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=73964168&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 73964168,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000520242.6",
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ELOC",
"gene_hgnc_id": 11617,
"hgvs_c": "c.-50-4350G>A",
"hgvs_p": null,
"transcript": "NM_005648.4",
"protein_id": "NP_005639.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 112,
"cds_start": -4,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2015,
"mane_select": "ENST00000520242.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ELOC",
"gene_hgnc_id": 11617,
"hgvs_c": "c.-50-4350G>A",
"hgvs_p": null,
"transcript": "ENST00000520242.6",
"protein_id": "ENSP00000428171.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 112,
"cds_start": -4,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2015,
"mane_select": "NM_005648.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ELOC",
"gene_hgnc_id": 11617,
"hgvs_c": "c.-50-4350G>A",
"hgvs_p": null,
"transcript": "ENST00000518127.5",
"protein_id": "ENSP00000428334.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 112,
"cds_start": -4,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ELOC",
"gene_hgnc_id": 11617,
"hgvs_c": "c.-45+7909G>A",
"hgvs_p": null,
"transcript": "ENST00000520210.1",
"protein_id": "ENSP00000430224.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 96,
"cds_start": -4,
"cds_end": null,
"cds_length": 291,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ELOC",
"gene_hgnc_id": 11617,
"hgvs_c": "c.-98-4350G>A",
"hgvs_p": null,
"transcript": "ENST00000519487.6",
"protein_id": "ENSP00000429596.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 135,
"cds_start": -4,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ELOC",
"gene_hgnc_id": 11617,
"hgvs_c": "c.-45+8077G>A",
"hgvs_p": null,
"transcript": "ENST00000685938.1",
"protein_id": "ENSP00000509885.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 133,
"cds_start": -4,
"cds_end": null,
"cds_length": 402,
"cdna_start": null,
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"cdna_length": 1709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ELOC",
"gene_hgnc_id": 11617,
"hgvs_c": "c.-50-4350G>A",
"hgvs_p": null,
"transcript": "NM_001204857.2",
"protein_id": "NP_001191786.1",
"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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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ELOC",
"gene_hgnc_id": 11617,
"hgvs_c": "c.-51+319G>A",
"hgvs_p": null,
"transcript": "NM_001204858.2",
"protein_id": "NP_001191787.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 112,
"cds_start": -4,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ELOC",
"gene_hgnc_id": 11617,
"hgvs_c": "c.-51+319G>A",
"hgvs_p": null,
"transcript": "NM_001204859.2",
"protein_id": "NP_001191788.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 112,
"cds_start": -4,
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"cds_length": 339,
"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "ELOC",
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"hgvs_c": "c.-51+319G>A",
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"transcript": "NM_001204860.2",
"protein_id": "NP_001191789.1",
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "ELOC",
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"hgvs_c": "c.-51+319G>A",
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"transcript": "NM_001204861.2",
"protein_id": "NP_001191790.1",
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},
{
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],
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],
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},
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},
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],
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"hgvs_c": "c.-45+7909G>A",
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"transcript": "NM_001204863.2",
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"hgvs_c": "c.-50-4350G>A",
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},
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],
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"intron_rank": 1,
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"gene_symbol": "ELOC",
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"hgvs_c": "c.-50-4350G>A",
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}