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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: 7-148884496-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=148884496&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 148884496,
"ref": "T",
"alt": "G",
"effect": "upstream_gene_variant",
"transcript": "NM_004456.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.-340A>C",
"hgvs_p": null,
"transcript": "NM_004456.5",
"protein_id": "NP_004447.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 751,
"cds_start": null,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000320356.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004456.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.-340A>C",
"hgvs_p": null,
"transcript": "ENST00000320356.7",
"protein_id": "ENSP00000320147.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 751,
"cds_start": null,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004456.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320356.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.-340A>C",
"hgvs_p": null,
"transcript": "ENST00000350995.6",
"protein_id": "ENSP00000223193.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 707,
"cds_start": null,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000350995.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.-340A>C",
"hgvs_p": null,
"transcript": "ENST00000893365.1",
"protein_id": "ENSP00000563424.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 753,
"cds_start": null,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893365.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.-340A>C",
"hgvs_p": null,
"transcript": "ENST00000893367.1",
"protein_id": "ENSP00000563426.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 751,
"cds_start": null,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893367.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.-457A>C",
"hgvs_p": null,
"transcript": "ENST00000931956.1",
"protein_id": "ENSP00000602015.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 751,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931956.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.-340A>C",
"hgvs_p": null,
"transcript": "NM_001203247.2",
"protein_id": "NP_001190176.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 746,
"cds_start": null,
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"cds_length": 2241,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001203247.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.-340A>C",
"hgvs_p": null,
"transcript": "ENST00000893366.1",
"protein_id": "ENSP00000563425.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 742,
"cds_start": null,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893366.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.-340A>C",
"hgvs_p": null,
"transcript": "NM_001203248.2",
"protein_id": "NP_001190177.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 737,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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},
{
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"protein_coding": true,
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"consequences": [
"upstream_gene_variant"
],
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"gene_symbol": "EZH2",
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"hgvs_c": "c.-340A>C",
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"transcript": "ENST00000483967.5",
"protein_id": "ENSP00000419856.1",
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"cds_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000483967.5"
},
{
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"strand": true,
"consequences": [
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],
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},
{
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],
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},
{
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],
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},
{
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],
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},
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],
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},
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},
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},
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},
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},
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},
{
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],
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"hgvs_c": "c.-340A>C",
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"transcript": "XM_011515894.3",
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},
{
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],
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}