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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: 3-12901344-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=12901344&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 12901344,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001376938.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC1",
"gene_hgnc_id": 29112,
"hgvs_c": "c.2984C>T",
"hgvs_p": "p.Pro995Leu",
"transcript": "NM_001134382.3",
"protein_id": "NP_001127854.1",
"transcript_support_level": null,
"aa_start": 995,
"aa_end": null,
"aa_length": 1114,
"cds_start": 2984,
"cds_end": null,
"cds_length": 3345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000613206.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001134382.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC1",
"gene_hgnc_id": 29112,
"hgvs_c": "c.2984C>T",
"hgvs_p": "p.Pro995Leu",
"transcript": "ENST00000613206.2",
"protein_id": "ENSP00000480301.1",
"transcript_support_level": 2,
"aa_start": 995,
"aa_end": null,
"aa_length": 1114,
"cds_start": 2984,
"cds_end": null,
"cds_length": 3345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001134382.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613206.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC1",
"gene_hgnc_id": 29112,
"hgvs_c": "c.*165C>T",
"hgvs_p": null,
"transcript": "ENST00000618604.4",
"protein_id": "ENSP00000478001.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 814,
"cds_start": null,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618604.4"
},
{
"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": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "IQSEC1",
"gene_hgnc_id": 29112,
"hgvs_c": "c.2847+1429C>T",
"hgvs_p": null,
"transcript": "ENST00000273221.8",
"protein_id": "ENSP00000273221.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 963,
"cds_start": null,
"cds_end": null,
"cds_length": 2892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000273221.8"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC1",
"gene_hgnc_id": 29112,
"hgvs_c": "c.3308C>T",
"hgvs_p": "p.Pro1103Leu",
"transcript": "NM_001376938.2",
"protein_id": "NP_001363867.1",
"transcript_support_level": null,
"aa_start": 1103,
"aa_end": null,
"aa_length": 1222,
"cds_start": 3308,
"cds_end": null,
"cds_length": 3669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376938.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC1",
"gene_hgnc_id": 29112,
"hgvs_c": "c.3308C>T",
"hgvs_p": "p.Pro1103Leu",
"transcript": "ENST00000648114.1",
"protein_id": "ENSP00000497029.1",
"transcript_support_level": null,
"aa_start": 1103,
"aa_end": null,
"aa_length": 1222,
"cds_start": 3308,
"cds_end": null,
"cds_length": 3669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648114.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC1",
"gene_hgnc_id": 29112,
"hgvs_c": "c.3278C>T",
"hgvs_p": "p.Pro1093Leu",
"transcript": "XM_047449339.1",
"protein_id": "XP_047305295.1",
"transcript_support_level": null,
"aa_start": 1093,
"aa_end": null,
"aa_length": 1212,
"cds_start": 3278,
"cds_end": null,
"cds_length": 3639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449339.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC1",
"gene_hgnc_id": 29112,
"hgvs_c": "c.3263C>T",
"hgvs_p": "p.Pro1088Leu",
"transcript": "XM_047449340.1",
"protein_id": "XP_047305296.1",
"transcript_support_level": null,
"aa_start": 1088,
"aa_end": null,
"aa_length": 1207,
"cds_start": 3263,
"cds_end": null,
"cds_length": 3624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449340.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC1",
"gene_hgnc_id": 29112,
"hgvs_c": "c.3029C>T",
"hgvs_p": "p.Pro1010Leu",
"transcript": "XM_011534306.4",
"protein_id": "XP_011532608.1",
"transcript_support_level": null,
"aa_start": 1010,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3029,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534306.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC1",
"gene_hgnc_id": 29112,
"hgvs_c": "c.3029C>T",
"hgvs_p": "p.Pro1010Leu",
"transcript": "XM_011534307.3",
"protein_id": "XP_011532609.1",
"transcript_support_level": null,
"aa_start": 1010,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3029,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534307.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC1",
"gene_hgnc_id": 29112,
"hgvs_c": "c.3026C>T",
"hgvs_p": "p.Pro1009Leu",
"transcript": "XM_011534308.3",
"protein_id": "XP_011532610.1",
"transcript_support_level": null,
"aa_start": 1009,
"aa_end": null,
"aa_length": 1128,
"cds_start": 3026,
"cds_end": null,
"cds_length": 3387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534308.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC1",
"gene_hgnc_id": 29112,
"hgvs_c": "c.2999C>T",
"hgvs_p": "p.Pro1000Leu",
"transcript": "XM_047449341.1",
"protein_id": "XP_047305297.1",
"transcript_support_level": null,
"aa_start": 1000,
"aa_end": null,
"aa_length": 1119,
"cds_start": 2999,
"cds_end": null,
"cds_length": 3360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449341.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC1",
"gene_hgnc_id": 29112,
"hgvs_c": "c.2999C>T",
"hgvs_p": "p.Pro1000Leu",
"transcript": "XM_047449342.1",
"protein_id": "XP_047305298.1",
"transcript_support_level": null,
"aa_start": 1000,
"aa_end": null,
"aa_length": 1119,
"cds_start": 2999,
"cds_end": null,
"cds_length": 3360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449342.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC1",
"gene_hgnc_id": 29112,
"hgvs_c": "c.2996C>T",
"hgvs_p": "p.Pro999Leu",
"transcript": "XM_047449343.1",
"protein_id": "XP_047305299.1",
"transcript_support_level": null,
"aa_start": 999,
"aa_end": null,
"aa_length": 1118,
"cds_start": 2996,
"cds_end": null,
"cds_length": 3357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449343.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC1",
"gene_hgnc_id": 29112,
"hgvs_c": "c.2660C>T",
"hgvs_p": "p.Pro887Leu",
"transcript": "XM_011534311.3",
"protein_id": "XP_011532613.1",
"transcript_support_level": null,
"aa_start": 887,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2660,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534311.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC1",
"gene_hgnc_id": 29112,
"hgvs_c": "c.2660C>T",
"hgvs_p": "p.Pro887Leu",
"transcript": "XM_011534312.3",
"protein_id": "XP_011532614.1",
"transcript_support_level": null,
"aa_start": 887,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2660,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534312.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC1",
"gene_hgnc_id": 29112,
"hgvs_c": "c.2660C>T",
"hgvs_p": "p.Pro887Leu",
"transcript": "XM_011534313.3",
"protein_id": "XP_011532615.1",
"transcript_support_level": null,
"aa_start": 887,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2660,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534313.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC1",
"gene_hgnc_id": 29112,
"hgvs_c": "c.2660C>T",
"hgvs_p": "p.Pro887Leu",
"transcript": "XM_011534314.3",
"protein_id": "XP_011532616.1",
"transcript_support_level": null,
"aa_start": 887,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2660,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534314.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC1",
"gene_hgnc_id": 29112,
"hgvs_c": "c.2660C>T",
"hgvs_p": "p.Pro887Leu",
"transcript": "XM_047449345.1",
"protein_id": "XP_047305301.1",
"transcript_support_level": null,
"aa_start": 887,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2660,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449345.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC1",
"gene_hgnc_id": 29112,
"hgvs_c": "c.2630C>T",
"hgvs_p": "p.Pro877Leu",
"transcript": "XM_047449349.1",
"protein_id": "XP_047305305.1",
"transcript_support_level": null,
"aa_start": 877,
"aa_end": null,
"aa_length": 996,
"cds_start": 2630,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449349.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC1",
"gene_hgnc_id": 29112,
"hgvs_c": "c.2630C>T",
"hgvs_p": "p.Pro877Leu",
"transcript": "XM_047449350.1",
"protein_id": "XP_047305306.1",
"transcript_support_level": null,
"aa_start": 877,
"aa_end": null,
"aa_length": 996,
"cds_start": 2630,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449350.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC1",
"gene_hgnc_id": 29112,
"hgvs_c": "c.*165C>T",
"hgvs_p": null,
"transcript": "NM_001330619.3",
"protein_id": "NP_001317548.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 814,
"cds_start": null,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
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{
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"phenotype_combined": "not specified",
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}
],
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}