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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: 12-32611139-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=32611139&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 32611139,
"ref": "G",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000534526.7",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1605G>C",
"hgvs_p": "p.Glu535Asp",
"transcript": "NM_001370298.3",
"protein_id": "NP_001357227.2",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 903,
"cds_start": 1605,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 1841,
"cdna_end": null,
"cdna_length": 8465,
"mane_select": "ENST00000534526.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1605G>C",
"hgvs_p": "p.Glu535Asp",
"transcript": "ENST00000534526.7",
"protein_id": "ENSP00000449273.1",
"transcript_support_level": 5,
"aa_start": 535,
"aa_end": null,
"aa_length": 903,
"cds_start": 1605,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 1841,
"cdna_end": null,
"cdna_length": 8465,
"mane_select": "NM_001370298.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "n.*586G>C",
"hgvs_p": null,
"transcript": "ENST00000395740.5",
"protein_id": "ENSP00000379089.1",
"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": 2691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "n.*586G>C",
"hgvs_p": null,
"transcript": "ENST00000395740.5",
"protein_id": "ENSP00000379089.1",
"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": 2691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1605G>C",
"hgvs_p": "p.Glu535Asp",
"transcript": "NM_001384126.1",
"protein_id": "NP_001371055.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 887,
"cds_start": 1605,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 1841,
"cdna_end": null,
"cdna_length": 4325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1449G>C",
"hgvs_p": "p.Glu483Asp",
"transcript": "NM_001304481.2",
"protein_id": "NP_001291410.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 851,
"cds_start": 1449,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 1611,
"cdna_end": null,
"cdna_length": 8235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1449G>C",
"hgvs_p": "p.Glu483Asp",
"transcript": "ENST00000531134.7",
"protein_id": "ENSP00000431323.1",
"transcript_support_level": 2,
"aa_start": 483,
"aa_end": null,
"aa_length": 851,
"cds_start": 1449,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 1611,
"cdna_end": null,
"cdna_length": 2924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1194G>C",
"hgvs_p": "p.Glu398Asp",
"transcript": "NM_001385118.1",
"protein_id": "NP_001372047.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 766,
"cds_start": 1194,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 1616,
"cdna_end": null,
"cdna_length": 8240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1194G>C",
"hgvs_p": "p.Glu398Asp",
"transcript": "NM_139241.3",
"protein_id": "NP_640334.2",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 766,
"cds_start": 1194,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 1735,
"cdna_end": null,
"cdna_length": 8359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1194G>C",
"hgvs_p": "p.Glu398Asp",
"transcript": "ENST00000427716.7",
"protein_id": "ENSP00000394487.2",
"transcript_support_level": 2,
"aa_start": 398,
"aa_end": null,
"aa_length": 766,
"cds_start": 1194,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 1743,
"cdna_end": null,
"cdna_length": 7194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1194G>C",
"hgvs_p": "p.Glu398Asp",
"transcript": "ENST00000525053.6",
"protein_id": "ENSP00000433666.2",
"transcript_support_level": 2,
"aa_start": 398,
"aa_end": null,
"aa_length": 766,
"cds_start": 1194,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 1614,
"cdna_end": null,
"cdna_length": 2925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1194G>C",
"hgvs_p": "p.Glu398Asp",
"transcript": "ENST00000583694.2",
"protein_id": "ENSP00000462623.2",
"transcript_support_level": 3,
"aa_start": 398,
"aa_end": null,
"aa_length": 766,
"cds_start": 1194,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 1618,
"cdna_end": null,
"cdna_length": 2931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1194G>C",
"hgvs_p": "p.Glu398Asp",
"transcript": "NM_001384127.1",
"protein_id": "NP_001371056.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 750,
"cds_start": 1194,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 1615,
"cdna_end": null,
"cdna_length": 4099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.1194G>C",
"hgvs_p": "p.Glu398Asp",
"transcript": "NM_001384128.1",
"protein_id": "NP_001371057.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 750,
"cds_start": 1194,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 1616,
"cdna_end": null,
"cdna_length": 4100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.915G>C",
"hgvs_p": "p.Glu305Asp",
"transcript": "NM_001330373.2",
"protein_id": "NP_001317302.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 673,
"cds_start": 915,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 1431,
"cdna_end": null,
"cdna_length": 8055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.915G>C",
"hgvs_p": "p.Glu305Asp",
"transcript": "NM_001330374.2",
"protein_id": "NP_001317303.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 673,
"cds_start": 915,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 1427,
"cdna_end": null,
"cdna_length": 8051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.915G>C",
"hgvs_p": "p.Glu305Asp",
"transcript": "NM_001384130.1",
"protein_id": "NP_001371059.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 673,
"cds_start": 915,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 1432,
"cdna_end": null,
"cdna_length": 8056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.915G>C",
"hgvs_p": "p.Glu305Asp",
"transcript": "ENST00000546442.5",
"protein_id": "ENSP00000446695.1",
"transcript_support_level": 5,
"aa_start": 305,
"aa_end": null,
"aa_length": 673,
"cds_start": 915,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 1410,
"cdna_end": null,
"cdna_length": 3503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.915G>C",
"hgvs_p": "p.Glu305Asp",
"transcript": "ENST00000682739.1",
"protein_id": "ENSP00000507616.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 673,
"cds_start": 915,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 2149,
"cdna_end": null,
"cdna_length": 3373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.642G>C",
"hgvs_p": "p.Glu214Asp",
"transcript": "NM_001370297.1",
"protein_id": "NP_001357226.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 582,
"cds_start": 642,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 7547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.450G>C",
"hgvs_p": "p.Glu150Asp",
"transcript": "NM_001304483.2",
"protein_id": "NP_001291412.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 471,
"cds_start": 450,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 1715,
"cdna_end": null,
"cdna_length": 2702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGD4",
"gene_hgnc_id": 19125,
"hgvs_c": "c.162G>C",
"hgvs_p": "p.Glu54Asp",
"transcript": "NM_001304484.2",
"protein_id": "NP_001291413.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 422,
"cds_start": 162,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1734,
"cdna_end": null,
"cdna_length": 8358,
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