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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: 3-113250710-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=113250710&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 113250710,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001301861.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOC",
"gene_hgnc_id": 17173,
"hgvs_c": "c.253C>T",
"hgvs_p": "p.Leu85Phe",
"transcript": "NM_001378074.1",
"protein_id": "NP_001365003.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 1115,
"cds_start": 253,
"cds_end": null,
"cds_length": 3348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000682979.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378074.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOC",
"gene_hgnc_id": 17173,
"hgvs_c": "c.253C>T",
"hgvs_p": "p.Leu85Phe",
"transcript": "ENST00000682979.1",
"protein_id": "ENSP00000507783.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 1115,
"cds_start": 253,
"cds_end": null,
"cds_length": 3348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001378074.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682979.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOC",
"gene_hgnc_id": 17173,
"hgvs_c": "c.253C>T",
"hgvs_p": "p.Leu85Phe",
"transcript": "ENST00000273395.8",
"protein_id": "ENSP00000273395.4",
"transcript_support_level": 1,
"aa_start": 85,
"aa_end": null,
"aa_length": 1115,
"cds_start": 253,
"cds_end": null,
"cds_length": 3348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000273395.8"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOC",
"gene_hgnc_id": 17173,
"hgvs_c": "c.253C>T",
"hgvs_p": "p.Leu85Phe",
"transcript": "ENST00000495514.5",
"protein_id": "ENSP00000418663.1",
"transcript_support_level": 1,
"aa_start": 85,
"aa_end": null,
"aa_length": 1114,
"cds_start": 253,
"cds_end": null,
"cds_length": 3345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000495514.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOC",
"gene_hgnc_id": 17173,
"hgvs_c": "c.253C>T",
"hgvs_p": "p.Leu85Phe",
"transcript": "ENST00000484034.1",
"protein_id": "ENSP00000417337.1",
"transcript_support_level": 1,
"aa_start": 85,
"aa_end": null,
"aa_length": 157,
"cds_start": 253,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000484034.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOC",
"gene_hgnc_id": 17173,
"hgvs_c": "c.253C>T",
"hgvs_p": "p.Leu85Phe",
"transcript": "ENST00000928198.1",
"protein_id": "ENSP00000598257.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 1149,
"cds_start": 253,
"cds_end": null,
"cds_length": 3450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928198.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOC",
"gene_hgnc_id": 17173,
"hgvs_c": "c.253C>T",
"hgvs_p": "p.Leu85Phe",
"transcript": "ENST00000959895.1",
"protein_id": "ENSP00000629954.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 1149,
"cds_start": 253,
"cds_end": null,
"cds_length": 3450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959895.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOC",
"gene_hgnc_id": 17173,
"hgvs_c": "c.253C>T",
"hgvs_p": "p.Leu85Phe",
"transcript": "ENST00000959901.1",
"protein_id": "ENSP00000629960.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 1149,
"cds_start": 253,
"cds_end": null,
"cds_length": 3450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959901.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOC",
"gene_hgnc_id": 17173,
"hgvs_c": "c.253C>T",
"hgvs_p": "p.Leu85Phe",
"transcript": "ENST00000909640.1",
"protein_id": "ENSP00000579699.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 1148,
"cds_start": 253,
"cds_end": null,
"cds_length": 3447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909640.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOC",
"gene_hgnc_id": 17173,
"hgvs_c": "c.253C>T",
"hgvs_p": "p.Leu85Phe",
"transcript": "ENST00000959900.1",
"protein_id": "ENSP00000629959.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 1148,
"cds_start": 253,
"cds_end": null,
"cds_length": 3447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959900.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOC",
"gene_hgnc_id": 17173,
"hgvs_c": "c.253C>T",
"hgvs_p": "p.Leu85Phe",
"transcript": "NM_001301861.2",
"protein_id": "NP_001288790.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 1115,
"cds_start": 253,
"cds_end": null,
"cds_length": 3348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301861.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOC",
"gene_hgnc_id": 17173,
"hgvs_c": "c.253C>T",
"hgvs_p": "p.Leu85Phe",
"transcript": "NM_001378073.1",
"protein_id": "NP_001365002.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 1115,
"cds_start": 253,
"cds_end": null,
"cds_length": 3348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378073.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOC",
"gene_hgnc_id": 17173,
"hgvs_c": "c.253C>T",
"hgvs_p": "p.Leu85Phe",
"transcript": "NM_001387919.1",
"protein_id": "NP_001374848.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 1115,
"cds_start": 253,
"cds_end": null,
"cds_length": 3348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387919.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOC",
"gene_hgnc_id": 17173,
"hgvs_c": "c.253C>T",
"hgvs_p": "p.Leu85Phe",
"transcript": "ENST00000909635.1",
"protein_id": "ENSP00000579694.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 1115,
"cds_start": 253,
"cds_end": null,
"cds_length": 3348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909635.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOC",
"gene_hgnc_id": 17173,
"hgvs_c": "c.253C>T",
"hgvs_p": "p.Leu85Phe",
"transcript": "ENST00000909636.1",
"protein_id": "ENSP00000579695.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 1115,
"cds_start": 253,
"cds_end": null,
"cds_length": 3348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909636.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOC",
"gene_hgnc_id": 17173,
"hgvs_c": "c.253C>T",
"hgvs_p": "p.Leu85Phe",
"transcript": "ENST00000909645.1",
"protein_id": "ENSP00000579704.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 1115,
"cds_start": 253,
"cds_end": null,
"cds_length": 3348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909645.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOC",
"gene_hgnc_id": 17173,
"hgvs_c": "c.253C>T",
"hgvs_p": "p.Leu85Phe",
"transcript": "ENST00000909646.1",
"protein_id": "ENSP00000579705.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 1115,
"cds_start": 253,
"cds_end": null,
"cds_length": 3348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909646.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOC",
"gene_hgnc_id": 17173,
"hgvs_c": "c.253C>T",
"hgvs_p": "p.Leu85Phe",
"transcript": "ENST00000909651.1",
"protein_id": "ENSP00000579710.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 1115,
"cds_start": 253,
"cds_end": null,
"cds_length": 3348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909651.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOC",
"gene_hgnc_id": 17173,
"hgvs_c": "c.253C>T",
"hgvs_p": "p.Leu85Phe",
"transcript": "ENST00000909652.1",
"protein_id": "ENSP00000579711.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 1115,
"cds_start": 253,
"cds_end": null,
"cds_length": 3348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909652.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOC",
"gene_hgnc_id": 17173,
"hgvs_c": "c.253C>T",
"hgvs_p": "p.Leu85Phe",
"transcript": "ENST00000909654.1",
"protein_id": "ENSP00000579713.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 1115,
"cds_start": 253,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909654.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOC",
"gene_hgnc_id": 17173,
"hgvs_c": "c.253C>T",
"hgvs_p": "p.Leu85Phe",
"transcript": "ENST00000928196.1",
"protein_id": "ENSP00000598255.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 1115,
"cds_start": 253,
"cds_end": null,
"cds_length": 3348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928196.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BOC",
"gene_hgnc_id": 17173,
"hgvs_c": "c.253C>T",
"hgvs_p": "p.Leu85Phe",
"transcript": "ENST00000959893.1",
"protein_id": "ENSP00000629952.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 1115,
"cds_start": 253,
"cds_end": null,
"cds_length": 3348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"phenotype_combined": "not specified",
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}
],
"message": null
}