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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: 1-45869204-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=45869204&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 45869204,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000361297.7",
"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": 29,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.469-13160A>C",
"hgvs_p": null,
"transcript": "NM_015112.3",
"protein_id": "NP_055927.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1798,
"cds_start": -4,
"cds_end": null,
"cds_length": 5397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5737,
"mane_select": "ENST00000361297.7",
"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": 29,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.469-13160A>C",
"hgvs_p": null,
"transcript": "ENST00000361297.7",
"protein_id": "ENSP00000354671.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1798,
"cds_start": -4,
"cds_end": null,
"cds_length": 5397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5737,
"mane_select": "NM_015112.3",
"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": 30,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.469-13160A>C",
"hgvs_p": null,
"transcript": "NM_001324320.2",
"protein_id": "NP_001311249.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1805,
"cds_start": -4,
"cds_end": null,
"cds_length": 5418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5758,
"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": 29,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.469-13160A>C",
"hgvs_p": null,
"transcript": "NM_001319245.2",
"protein_id": "NP_001306174.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1797,
"cds_start": -4,
"cds_end": null,
"cds_length": 5394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5734,
"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": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.-67+4065A>C",
"hgvs_p": null,
"transcript": "NM_001324321.2",
"protein_id": "NP_001311250.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1644,
"cds_start": -4,
"cds_end": null,
"cds_length": 4935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5819,
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "n.438-13160A>C",
"hgvs_p": null,
"transcript": "ENST00000470809.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.469-13160A>C",
"hgvs_p": null,
"transcript": "XM_011541059.3",
"protein_id": "XP_011539361.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1870,
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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,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.469-13160A>C",
"hgvs_p": null,
"transcript": "XM_011541061.3",
"protein_id": "XP_011539363.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1869,
"cds_start": -4,
"cds_end": null,
"cds_length": 5610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5950,
"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": 30,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.469-13160A>C",
"hgvs_p": null,
"transcript": "XM_011541062.3",
"protein_id": "XP_011539364.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1863,
"cds_start": -4,
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"cds_length": 5592,
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"mane_select": null,
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"feature": null
},
{
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"intron_variant"
],
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"gene_symbol": "MAST2",
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"hgvs_c": "c.469-13160A>C",
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"transcript": "XM_047450096.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "MAST2",
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"hgvs_c": "c.319-13160A>C",
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},
{
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],
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],
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],
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"gene_symbol": "MAST2",
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"transcript": "XM_011541069.3",
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],
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}