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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: 19-5231124-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=5231124&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 5231124,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000262963.11",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PTPRS",
"gene_hgnc_id": 9681,
"hgvs_c": "c.2155+186A>T",
"hgvs_p": null,
"transcript": "NM_002850.4",
"protein_id": "NP_002841.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1948,
"cds_start": -4,
"cds_end": null,
"cds_length": 5847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7356,
"mane_select": "ENST00000262963.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PTPRS",
"gene_hgnc_id": 9681,
"hgvs_c": "c.2155+186A>T",
"hgvs_p": null,
"transcript": "ENST00000262963.11",
"protein_id": "ENSP00000262963.8",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1948,
"cds_start": -4,
"cds_end": null,
"cds_length": 5847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7356,
"mane_select": "NM_002850.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PTPRS",
"gene_hgnc_id": 9681,
"hgvs_c": "c.2155+186A>T",
"hgvs_p": null,
"transcript": "ENST00000587303.5",
"protein_id": "ENSP00000467537.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1948,
"cds_start": -4,
"cds_end": null,
"cds_length": 5847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PTPRS",
"gene_hgnc_id": 9681,
"hgvs_c": "c.2116+186A>T",
"hgvs_p": null,
"transcript": "ENST00000588012.5",
"protein_id": "ENSP00000465443.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1910,
"cds_start": -4,
"cds_end": null,
"cds_length": 5733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PTPRS",
"gene_hgnc_id": 9681,
"hgvs_c": "c.1810+7795A>T",
"hgvs_p": null,
"transcript": "ENST00000592099.5",
"protein_id": "ENSP00000467398.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1501,
"cds_start": -4,
"cds_end": null,
"cds_length": 4506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PTPRS",
"gene_hgnc_id": 9681,
"hgvs_c": "n.2044+7795A>T",
"hgvs_p": null,
"transcript": "ENST00000588552.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5443,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PTPRS",
"gene_hgnc_id": 9681,
"hgvs_c": "c.2116+186A>T",
"hgvs_p": null,
"transcript": "NM_001394011.1",
"protein_id": "NP_001380940.1",
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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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PTPRS",
"gene_hgnc_id": 9681,
"hgvs_c": "c.2116+186A>T",
"hgvs_p": null,
"transcript": "NM_001394012.1",
"protein_id": "NP_001380941.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1919,
"cds_start": -4,
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"cds_length": 5760,
"cdna_start": null,
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"cdna_length": 7269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PTPRS",
"gene_hgnc_id": 9681,
"hgvs_c": "c.2116+186A>T",
"hgvs_p": null,
"transcript": "NM_130854.3",
"protein_id": "NP_570924.2",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1910,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"consequences": [
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],
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"gene_symbol": "PTPRS",
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"hgvs_c": "c.2116+186A>T",
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"transcript": "NM_001394013.1",
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "PTPRS",
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"hgvs_c": "c.1402+186A>T",
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"transcript": "ENST00000850941.1",
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{
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],
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],
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],
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