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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: 8-17693345-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=17693345&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 17693345,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000693296.1",
"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": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.2624-8803T>C",
"hgvs_p": null,
"transcript": "NM_001363059.2",
"protein_id": "NP_001349988.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1270,
"cds_start": -4,
"cds_end": null,
"cds_length": 3813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6125,
"mane_select": "ENST00000693296.1",
"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": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.2624-8803T>C",
"hgvs_p": null,
"transcript": "ENST00000693296.1",
"protein_id": "ENSP00000509719.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1270,
"cds_start": -4,
"cds_end": null,
"cds_length": 3813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6125,
"mane_select": "NM_001363059.2",
"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": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.2624-8803T>C",
"hgvs_p": null,
"transcript": "ENST00000262102.10",
"protein_id": "ENSP00000262102.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1270,
"cds_start": -4,
"cds_end": null,
"cds_length": 3813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6160,
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.121+3912T>C",
"hgvs_p": null,
"transcript": "ENST00000297488.10",
"protein_id": "ENSP00000297488.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 436,
"cds_start": -4,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3731,
"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": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "n.*372-8803T>C",
"hgvs_p": null,
"transcript": "ENST00000520196.5",
"protein_id": "ENSP00000431016.1",
"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": 5205,
"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": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.2624-8803T>C",
"hgvs_p": null,
"transcript": "NM_001363057.2",
"protein_id": "NP_001349986.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1282,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 6121,
"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": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.2624-8803T>C",
"hgvs_p": null,
"transcript": "NM_001001924.3",
"protein_id": "NP_001001924.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1270,
"cds_start": -4,
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"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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.2624-8803T>C",
"hgvs_p": null,
"transcript": "NM_001363058.2",
"protein_id": "NP_001349987.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1270,
"cds_start": -4,
"cds_end": null,
"cds_length": 3813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6183,
"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": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.2624-8803T>C",
"hgvs_p": null,
"transcript": "NM_001363061.2",
"protein_id": "NP_001349990.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1270,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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},
{
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"consequences": [
"intron_variant"
],
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"exon_count": 14,
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"gene_symbol": "MTUS1",
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"hgvs_c": "c.2462-8803T>C",
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"transcript": "NM_001363060.2",
"protein_id": "NP_001349989.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "MTUS1",
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"hgvs_c": "c.2462-8803T>C",
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"transcript": "NM_001001925.3",
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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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}