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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: 18-8793526-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=8793526&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 8793526,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000695636.1",
"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": 15,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "MTCL1",
"gene_hgnc_id": 29121,
"hgvs_c": "c.3090+406T>G",
"hgvs_p": null,
"transcript": "NM_001395333.1",
"protein_id": "NP_001382262.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2011,
"cds_start": -4,
"cds_end": null,
"cds_length": 6036,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7079,
"mane_select": "ENST00000695636.1",
"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": 15,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "MTCL1",
"gene_hgnc_id": 29121,
"hgvs_c": "c.3090+406T>G",
"hgvs_p": null,
"transcript": "ENST00000695636.1",
"protein_id": "ENSP00000512073.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2011,
"cds_start": -4,
"cds_end": null,
"cds_length": 6036,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7079,
"mane_select": "NM_001395333.1",
"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": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MTCL1",
"gene_hgnc_id": 29121,
"hgvs_c": "c.1888-2706T>G",
"hgvs_p": null,
"transcript": "ENST00000517570.5",
"protein_id": "ENSP00000429556.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1545,
"cds_start": -4,
"cds_end": null,
"cds_length": 4638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6009,
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MTCL1",
"gene_hgnc_id": 29121,
"hgvs_c": "n.50-2706T>G",
"hgvs_p": null,
"transcript": "ENST00000518815.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3963,
"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": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MTCL1",
"gene_hgnc_id": 29121,
"hgvs_c": "c.2968-2706T>G",
"hgvs_p": null,
"transcript": "NM_001378207.1",
"protein_id": "NP_001365136.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1970,
"cds_start": -4,
"cds_end": null,
"cds_length": 5913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6956,
"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": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MTCL1",
"gene_hgnc_id": 29121,
"hgvs_c": "c.2968-2706T>G",
"hgvs_p": null,
"transcript": "ENST00000695635.1",
"protein_id": "ENSP00000512072.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1970,
"cds_start": -4,
"cds_end": null,
"cds_length": 5913,
"cdna_start": null,
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"cdna_length": 6956,
"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": 16,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "MTCL1",
"gene_hgnc_id": 29121,
"hgvs_c": "c.3090+406T>G",
"hgvs_p": null,
"transcript": "NM_001378206.1",
"protein_id": "NP_001365135.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1946,
"cds_start": -4,
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"cds_length": 5841,
"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": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MTCL1",
"gene_hgnc_id": 29121,
"hgvs_c": "c.2968-2706T>G",
"hgvs_p": null,
"transcript": "NM_001378205.1",
"protein_id": "NP_001365134.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1905,
"cds_start": -4,
"cds_end": null,
"cds_length": 5718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7013,
"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": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MTCL1",
"gene_hgnc_id": 29121,
"hgvs_c": "c.2968-2706T>G",
"hgvs_p": null,
"transcript": "ENST00000306329.16",
"protein_id": "ENSP00000305027.11",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1905,
"cds_start": -4,
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"cds_length": 5718,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "MTCL1",
"gene_hgnc_id": 29121,
"hgvs_c": "c.2010+406T>G",
"hgvs_p": null,
"transcript": "NM_015210.4",
"protein_id": "NP_056025.2",
"transcript_support_level": null,
"aa_start": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 8,
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"gene_symbol": "MTCL1",
"gene_hgnc_id": 29121,
"hgvs_c": "c.2010+406T>G",
"hgvs_p": null,
"transcript": "ENST00000359865.7",
"protein_id": "ENSP00000352927.3",
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},
{
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],
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"gene_symbol": "MTCL1",
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},
{
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"strand": true,
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],
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"gene_symbol": "MTCL1",
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},
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],
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"gene_symbol": "MTCL1",
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"hgvs_c": "c.3168+406T>G",
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],
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},
{
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],
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"gene_symbol": "MTCL1",
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"hgvs_c": "c.3168+406T>G",
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},
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],
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"gene_symbol": "MTCL1",
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"hgvs_c": "c.3168+406T>G",
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],
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"gene_symbol": "MTCL1",
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"hgvs_c": "c.3168+406T>G",
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"transcript": "XM_024451117.2",
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},
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],
"exon_rank": null,
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"gene_symbol": "MTCL1",
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"hgvs_c": "c.2968-2706T>G",
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"transcript": "XM_047437394.1",
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