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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: 3-53517875-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=53517875&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 53517875,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000350061.11",
"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": 49,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.483+16155A>T",
"hgvs_p": null,
"transcript": "NM_000720.4",
"protein_id": "NP_000711.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2181,
"cds_start": -4,
"cds_end": null,
"cds_length": 6546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9429,
"mane_select": null,
"mane_plus": "ENST00000288139.11",
"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": 49,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.483+16155A>T",
"hgvs_p": null,
"transcript": "ENST00000288139.11",
"protein_id": "ENSP00000288139.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2181,
"cds_start": -4,
"cds_end": null,
"cds_length": 6546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9429,
"mane_select": null,
"mane_plus": "NM_000720.4",
"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": 48,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.483+16155A>T",
"hgvs_p": null,
"transcript": "NM_001128840.3",
"protein_id": "NP_001122312.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2161,
"cds_start": -4,
"cds_end": null,
"cds_length": 6486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9369,
"mane_select": "ENST00000350061.11",
"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": 48,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.483+16155A>T",
"hgvs_p": null,
"transcript": "ENST00000350061.11",
"protein_id": "ENSP00000288133.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2161,
"cds_start": -4,
"cds_end": null,
"cds_length": 6486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9369,
"mane_select": "NM_001128840.3",
"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": 49,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.483+16155A>T",
"hgvs_p": null,
"transcript": "ENST00000481478.2",
"protein_id": "ENSP00000418014.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2181,
"cds_start": -4,
"cds_end": null,
"cds_length": 6546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7204,
"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": 46,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.483+16155A>T",
"hgvs_p": null,
"transcript": "ENST00000422281.7",
"protein_id": "ENSP00000409174.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2137,
"cds_start": -4,
"cds_end": null,
"cds_length": 6414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7211,
"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": 47,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.555+16155A>T",
"hgvs_p": null,
"transcript": "ENST00000637424.1",
"protein_id": "ENSP00000489769.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2170,
"cds_start": -4,
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"cds_length": 6513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6856,
"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": 47,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.483+16155A>T",
"hgvs_p": null,
"transcript": "ENST00000636570.1",
"protein_id": "ENSP00000490183.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2146,
"cds_start": -4,
"cds_end": null,
"cds_length": 6441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6441,
"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": 46,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.483+16155A>T",
"hgvs_p": null,
"transcript": "NM_001128839.3",
"protein_id": "NP_001122311.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2137,
"cds_start": -4,
"cds_end": null,
"cds_length": 6414,
"cdna_start": null,
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"cdna_length": 9297,
"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 41,
"intron_rank": 3,
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"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.483+16155A>T",
"hgvs_p": null,
"transcript": "ENST00000636938.1",
"protein_id": "ENSP00000490039.1",
"transcript_support_level": 5,
"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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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 41,
"intron_rank": 3,
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"gene_symbol": "CACNA1D",
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"hgvs_c": "c.456+16155A>T",
"hgvs_p": null,
"transcript": "ENST00000640483.1",
"protein_id": "ENSP00000491921.1",
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"aa_start": null,
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},
{
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"strand": true,
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],
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"transcript": "ENST00000636627.2",
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},
{
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],
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"gene_symbol": "CACNA1D",
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"transcript": "ENST00000636480.1",
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},
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],
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"gene_symbol": "CACNA1D",
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"hgvs_c": "c.594+16155A>T",
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},
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],
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"gene_symbol": "CACNA1D",
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"hgvs_c": "c.594+16155A>T",
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"transcript": "XM_017007137.2",
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},
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],
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"gene_symbol": "CACNA1D",
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},
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],
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"gene_symbol": "CACNA1D",
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},
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],
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"gene_symbol": "CACNA1D",
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},
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],
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"gene_symbol": "CACNA1D",
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}