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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: 6-143159606-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=143159606&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 143159606,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000357847.9",
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AIG1",
"gene_hgnc_id": 21607,
"hgvs_c": "c.298-5476G>T",
"hgvs_p": null,
"transcript": "NM_016108.4",
"protein_id": "NP_057192.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 238,
"cds_start": -4,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2136,
"mane_select": "ENST00000357847.9",
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AIG1",
"gene_hgnc_id": 21607,
"hgvs_c": "c.298-5476G>T",
"hgvs_p": null,
"transcript": "ENST00000357847.9",
"protein_id": "ENSP00000350509.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 238,
"cds_start": -4,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2136,
"mane_select": "NM_016108.4",
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AIG1",
"gene_hgnc_id": 21607,
"hgvs_c": "c.298-5476G>T",
"hgvs_p": null,
"transcript": "ENST00000494282.6",
"protein_id": "ENSP00000473952.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 137,
"cds_start": -4,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3393,
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "AIG1",
"gene_hgnc_id": 21607,
"hgvs_c": "c.439-5476G>T",
"hgvs_p": null,
"transcript": "NM_001366344.1",
"protein_id": "NP_001353273.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 285,
"cds_start": -4,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2277,
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "AIG1",
"gene_hgnc_id": 21607,
"hgvs_c": "c.370-5476G>T",
"hgvs_p": null,
"transcript": "NM_001366345.1",
"protein_id": "NP_001353274.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 262,
"cds_start": -4,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2353,
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AIG1",
"gene_hgnc_id": 21607,
"hgvs_c": "c.298-5476G>T",
"hgvs_p": null,
"transcript": "NM_001366346.1",
"protein_id": "NP_001353275.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 249,
"cds_start": -4,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2025,
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AIG1",
"gene_hgnc_id": 21607,
"hgvs_c": "c.298-5476G>T",
"hgvs_p": null,
"transcript": "NM_001366347.1",
"protein_id": "NP_001353276.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": -4,
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"cds_length": 738,
"cdna_start": null,
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"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AIG1",
"gene_hgnc_id": 21607,
"hgvs_c": "c.298-5476G>T",
"hgvs_p": null,
"transcript": "ENST00000275235.8",
"protein_id": "ENSP00000275235.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": -4,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1202,
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AIG1",
"gene_hgnc_id": 21607,
"hgvs_c": "c.298-5476G>T",
"hgvs_p": null,
"transcript": "NM_001366348.1",
"protein_id": "NP_001353277.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 244,
"cds_start": -4,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
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"cdna_length": 2154,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
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"gene_symbol": "AIG1",
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"hgvs_c": "c.298-5476G>T",
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"transcript": "NM_001366349.2",
"protein_id": "NP_001353278.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
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"gene_symbol": "AIG1",
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"hgvs_c": "c.298-5476G>T",
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"transcript": "NM_001366350.1",
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},
{
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],
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},
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],
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"gene_symbol": "AIG1",
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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": "AIG1",
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],
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"gene_symbol": "AIG1",
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},
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],
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"gene_symbol": "AIG1",
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"hgvs_c": "c.298-5476G>T",
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"transcript": "NM_001366354.1",
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},
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],
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"exon_count": 6,
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"gene_symbol": "AIG1",
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"hgvs_c": "c.286-5476G>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": "AIG1",
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"hgvs_c": "c.298-5476G>T",
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"transcript": "NM_001366357.1",
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},
{
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],
"exon_rank": null,
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"exon_count": 6,
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"gene_symbol": "AIG1",
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"hgvs_c": "c.34-5476G>T",
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}