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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: 12-2052395-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=2052395&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 2052395,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000682544.1",
"consequences": [
{
"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": 50,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.140-62829C>A",
"hgvs_p": null,
"transcript": "ENST00000682544.1",
"protein_id": "ENSP00000507184.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2251,
"cds_start": -4,
"cds_end": null,
"cds_length": 6756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7047,
"mane_select": null,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.140-62829C>A",
"hgvs_p": null,
"transcript": "ENST00000683824.1",
"protein_id": "ENSP00000507867.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2193,
"cds_start": -4,
"cds_end": null,
"cds_length": 6582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6582,
"mane_select": null,
"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": 47,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.140-62829C>A",
"hgvs_p": null,
"transcript": "ENST00000682462.1",
"protein_id": "ENSP00000507105.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2168,
"cds_start": -4,
"cds_end": null,
"cds_length": 6507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7059,
"mane_select": null,
"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": 47,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.140-62829C>A",
"hgvs_p": null,
"transcript": "ENST00000683781.1",
"protein_id": "ENSP00000507434.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2168,
"cds_start": -4,
"cds_end": null,
"cds_length": 6507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6750,
"mane_select": null,
"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": 47,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.140-62829C>A",
"hgvs_p": null,
"transcript": "ENST00000683840.1",
"protein_id": "ENSP00000507612.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2168,
"cds_start": -4,
"cds_end": null,
"cds_length": 6507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6553,
"mane_select": null,
"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": 47,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.140-62829C>A",
"hgvs_p": null,
"transcript": "ENST00000683956.1",
"protein_id": "ENSP00000506882.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2168,
"cds_start": -4,
"cds_end": null,
"cds_length": 6507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "n.55+3141C>A",
"hgvs_p": null,
"transcript": "ENST00000682867.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 1485,
"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": 53,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.217+16806C>A",
"hgvs_p": null,
"transcript": "XM_017019926.3",
"protein_id": "XP_016875415.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2412,
"cds_start": -4,
"cds_end": null,
"cds_length": 7239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14273,
"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": 52,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.217+16806C>A",
"hgvs_p": null,
"transcript": "XM_017019927.3",
"protein_id": "XP_016875416.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2377,
"cds_start": -4,
"cds_end": null,
"cds_length": 7134,
"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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 52,
"intron_rank": 2,
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"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.217+16806C>A",
"hgvs_p": null,
"transcript": "XM_047429513.1",
"protein_id": "XP_047285469.1",
"transcript_support_level": null,
"aa_start": null,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "CACNA1C",
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"hgvs_c": "c.217+16806C>A",
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"transcript": "XM_017019928.3",
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},
{
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],
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},
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],
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"gene_symbol": "CACNA1C",
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],
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"gene_symbol": "CACNA1C",
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],
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],
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],
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"gene_symbol": "CACNA1C",
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"hgvs_c": "c.217+16806C>A",
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],
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"gene_symbol": "CACNA1C",
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},
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],
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"gene_symbol": "CACNA1C",
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