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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: 3-113953926-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=113953926&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 113953926,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001320466.2",
"consequences": [
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC23",
"gene_hgnc_id": 28654,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Leu130Phe",
"transcript": "NM_001320466.2",
"protein_id": "NP_001307395.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 435,
"cds_start": 388,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000638807.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320466.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC23",
"gene_hgnc_id": 28654,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Leu130Phe",
"transcript": "ENST00000638807.2",
"protein_id": "ENSP00000492287.2",
"transcript_support_level": 5,
"aa_start": 130,
"aa_end": null,
"aa_length": 435,
"cds_start": 388,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001320466.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638807.2"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC23",
"gene_hgnc_id": 28654,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Leu130Phe",
"transcript": "ENST00000330212.7",
"protein_id": "ENSP00000330485.3",
"transcript_support_level": 1,
"aa_start": 130,
"aa_end": null,
"aa_length": 409,
"cds_start": 388,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000330212.7"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC23",
"gene_hgnc_id": 28654,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Leu130Phe",
"transcript": "NM_001320467.2",
"protein_id": "NP_001307396.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 435,
"cds_start": 388,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320467.2"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC23",
"gene_hgnc_id": 28654,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Leu130Phe",
"transcript": "ENST00000869326.1",
"protein_id": "ENSP00000539385.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 435,
"cds_start": 388,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869326.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC23",
"gene_hgnc_id": 28654,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Leu130Phe",
"transcript": "ENST00000869327.1",
"protein_id": "ENSP00000539386.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 435,
"cds_start": 388,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869327.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC23",
"gene_hgnc_id": 28654,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Leu130Phe",
"transcript": "NM_001320468.2",
"protein_id": "NP_001307397.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 432,
"cds_start": 388,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320468.2"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC23",
"gene_hgnc_id": 28654,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Leu130Phe",
"transcript": "ENST00000932004.1",
"protein_id": "ENSP00000602063.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 432,
"cds_start": 388,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932004.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC23",
"gene_hgnc_id": 28654,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Leu130Phe",
"transcript": "ENST00000954481.1",
"protein_id": "ENSP00000624540.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 432,
"cds_start": 388,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954481.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC23",
"gene_hgnc_id": 28654,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Leu130Phe",
"transcript": "ENST00000954482.1",
"protein_id": "ENSP00000624541.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 432,
"cds_start": 388,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954482.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC23",
"gene_hgnc_id": 28654,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Leu130Phe",
"transcript": "NM_001363952.1",
"protein_id": "NP_001350881.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 412,
"cds_start": 388,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363952.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC23",
"gene_hgnc_id": 28654,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Leu130Phe",
"transcript": "NM_173570.5",
"protein_id": "NP_775841.2",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 409,
"cds_start": 388,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173570.5"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC23",
"gene_hgnc_id": 28654,
"hgvs_c": "c.370C>T",
"hgvs_p": "p.Leu124Phe",
"transcript": "ENST00000498275.5",
"protein_id": "ENSP00000417840.1",
"transcript_support_level": 2,
"aa_start": 124,
"aa_end": null,
"aa_length": 403,
"cds_start": 370,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000498275.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC23",
"gene_hgnc_id": 28654,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Leu130Phe",
"transcript": "ENST00000491556.1",
"protein_id": "ENSP00000420292.1",
"transcript_support_level": 2,
"aa_start": 130,
"aa_end": null,
"aa_length": 147,
"cds_start": 388,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000491556.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC23",
"gene_hgnc_id": 28654,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Leu130Phe",
"transcript": "XM_011512618.3",
"protein_id": "XP_011510920.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 435,
"cds_start": 388,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512618.3"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC23",
"gene_hgnc_id": 28654,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Leu130Phe",
"transcript": "XM_047447882.1",
"protein_id": "XP_047303838.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 435,
"cds_start": 388,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447882.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC23",
"gene_hgnc_id": 28654,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Leu130Phe",
"transcript": "XM_017006084.2",
"protein_id": "XP_016861573.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 432,
"cds_start": 388,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006084.2"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC23",
"gene_hgnc_id": 28654,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Leu130Phe",
"transcript": "XM_047447883.1",
"protein_id": "XP_047303839.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 432,
"cds_start": 388,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447883.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC23",
"gene_hgnc_id": 28654,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Leu130Phe",
"transcript": "XM_006713562.4",
"protein_id": "XP_006713625.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 424,
"cds_start": 388,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713562.4"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC23",
"gene_hgnc_id": 28654,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Leu130Phe",
"transcript": "XM_047447885.1",
"protein_id": "XP_047303841.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 424,
"cds_start": 388,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447885.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC23",
"gene_hgnc_id": 28654,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Leu130Phe",
"transcript": "XM_047447886.1",
"protein_id": "XP_047303842.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 424,
"cds_start": 388,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447886.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC23",
"gene_hgnc_id": 28654,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Leu130Phe",
"transcript": "XM_011512619.2",
"protein_id": "XP_011510921.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 412,
"cds_start": 388,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}