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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: 17-39924098-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=39924098&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 39924098,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_139280.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORMDL3",
"gene_hgnc_id": 16038,
"hgvs_c": "c.106G>T",
"hgvs_p": "p.Val36Leu",
"transcript": "NM_139280.4",
"protein_id": "NP_644809.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 153,
"cds_start": 106,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000304046.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139280.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORMDL3",
"gene_hgnc_id": 16038,
"hgvs_c": "c.106G>T",
"hgvs_p": "p.Val36Leu",
"transcript": "ENST00000304046.7",
"protein_id": "ENSP00000304858.2",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 153,
"cds_start": 106,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_139280.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304046.7"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORMDL3",
"gene_hgnc_id": 16038,
"hgvs_c": "c.106G>T",
"hgvs_p": "p.Val36Leu",
"transcript": "ENST00000579695.5",
"protein_id": "ENSP00000464693.1",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 153,
"cds_start": 106,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579695.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORMDL3",
"gene_hgnc_id": 16038,
"hgvs_c": "c.106G>T",
"hgvs_p": "p.Val36Leu",
"transcript": "ENST00000584220.5",
"protein_id": "ENSP00000464455.1",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 137,
"cds_start": 106,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000584220.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORMDL3",
"gene_hgnc_id": 16038,
"hgvs_c": "c.106G>T",
"hgvs_p": "p.Val36Leu",
"transcript": "ENST00000934568.1",
"protein_id": "ENSP00000604627.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 218,
"cds_start": 106,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934568.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORMDL3",
"gene_hgnc_id": 16038,
"hgvs_c": "c.106G>T",
"hgvs_p": "p.Val36Leu",
"transcript": "NM_001320801.2",
"protein_id": "NP_001307730.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 153,
"cds_start": 106,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320801.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORMDL3",
"gene_hgnc_id": 16038,
"hgvs_c": "c.106G>T",
"hgvs_p": "p.Val36Leu",
"transcript": "NM_001320802.2",
"protein_id": "NP_001307731.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 153,
"cds_start": 106,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320802.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORMDL3",
"gene_hgnc_id": 16038,
"hgvs_c": "c.106G>T",
"hgvs_p": "p.Val36Leu",
"transcript": "NM_001320803.1",
"protein_id": "NP_001307732.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 153,
"cds_start": 106,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320803.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORMDL3",
"gene_hgnc_id": 16038,
"hgvs_c": "c.106G>T",
"hgvs_p": "p.Val36Leu",
"transcript": "ENST00000394169.5",
"protein_id": "ENSP00000377724.1",
"transcript_support_level": 2,
"aa_start": 36,
"aa_end": null,
"aa_length": 153,
"cds_start": 106,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394169.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORMDL3",
"gene_hgnc_id": 16038,
"hgvs_c": "c.106G>T",
"hgvs_p": "p.Val36Leu",
"transcript": "ENST00000889245.1",
"protein_id": "ENSP00000559304.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 153,
"cds_start": 106,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889245.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORMDL3",
"gene_hgnc_id": 16038,
"hgvs_c": "c.106G>T",
"hgvs_p": "p.Val36Leu",
"transcript": "ENST00000889246.1",
"protein_id": "ENSP00000559305.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 153,
"cds_start": 106,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889246.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORMDL3",
"gene_hgnc_id": 16038,
"hgvs_c": "c.106G>T",
"hgvs_p": "p.Val36Leu",
"transcript": "ENST00000889247.1",
"protein_id": "ENSP00000559306.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 153,
"cds_start": 106,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889247.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORMDL3",
"gene_hgnc_id": 16038,
"hgvs_c": "c.106G>T",
"hgvs_p": "p.Val36Leu",
"transcript": "ENST00000889248.1",
"protein_id": "ENSP00000559307.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 153,
"cds_start": 106,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889248.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORMDL3",
"gene_hgnc_id": 16038,
"hgvs_c": "c.106G>T",
"hgvs_p": "p.Val36Leu",
"transcript": "ENST00000889249.1",
"protein_id": "ENSP00000559308.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 153,
"cds_start": 106,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889249.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORMDL3",
"gene_hgnc_id": 16038,
"hgvs_c": "c.106G>T",
"hgvs_p": "p.Val36Leu",
"transcript": "ENST00000889250.1",
"protein_id": "ENSP00000559309.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 153,
"cds_start": 106,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889250.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORMDL3",
"gene_hgnc_id": 16038,
"hgvs_c": "c.106G>T",
"hgvs_p": "p.Val36Leu",
"transcript": "ENST00000889251.1",
"protein_id": "ENSP00000559310.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 153,
"cds_start": 106,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889251.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORMDL3",
"gene_hgnc_id": 16038,
"hgvs_c": "c.106G>T",
"hgvs_p": "p.Val36Leu",
"transcript": "ENST00000889252.1",
"protein_id": "ENSP00000559311.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 153,
"cds_start": 106,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889252.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORMDL3",
"gene_hgnc_id": 16038,
"hgvs_c": "c.106G>T",
"hgvs_p": "p.Val36Leu",
"transcript": "ENST00000889253.1",
"protein_id": "ENSP00000559312.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 153,
"cds_start": 106,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889253.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORMDL3",
"gene_hgnc_id": 16038,
"hgvs_c": "c.106G>T",
"hgvs_p": "p.Val36Leu",
"transcript": "ENST00000889254.1",
"protein_id": "ENSP00000559313.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 153,
"cds_start": 106,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889254.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORMDL3",
"gene_hgnc_id": 16038,
"hgvs_c": "c.106G>T",
"hgvs_p": "p.Val36Leu",
"transcript": "ENST00000889255.1",
"protein_id": "ENSP00000559314.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 153,
"cds_start": 106,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889255.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORMDL3",
"gene_hgnc_id": 16038,
"hgvs_c": "c.106G>T",
"hgvs_p": "p.Val36Leu",
"transcript": "ENST00000889256.1",
"protein_id": "ENSP00000559315.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 153,
"cds_start": 106,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889256.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORMDL3",
"gene_hgnc_id": 16038,
"hgvs_c": "c.106G>T",
"hgvs_p": "p.Val36Leu",
"transcript": "ENST00000889257.1",
"protein_id": "ENSP00000559316.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 153,
"cds_start": 106,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889257.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
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