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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: 3-12960431-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=12960431&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 12960431,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000613206.2",
"consequences": [
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "IQSEC1",
"gene_hgnc_id": 29112,
"hgvs_c": "c.24-18566C>T",
"hgvs_p": null,
"transcript": "NM_001134382.3",
"protein_id": "NP_001127854.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1114,
"cds_start": -4,
"cds_end": null,
"cds_length": 3345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7700,
"mane_select": "ENST00000613206.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IQSEC1",
"gene_hgnc_id": 29112,
"hgvs_c": "c.24-18566C>T",
"hgvs_p": null,
"transcript": "ENST00000613206.2",
"protein_id": "ENSP00000480301.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1114,
"cds_start": -4,
"cds_end": null,
"cds_length": 3345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7700,
"mane_select": "NM_001134382.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "IQSEC1",
"gene_hgnc_id": 29112,
"hgvs_c": "c.65+6956C>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": -4,
"cds_end": null,
"cds_length": 2892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IQSEC1",
"gene_hgnc_id": 29112,
"hgvs_c": "c.-301-18566C>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": -4,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC1",
"gene_hgnc_id": 29112,
"hgvs_c": "n.282C>T",
"hgvs_p": null,
"transcript": "ENST00000474467.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "IQSEC1",
"gene_hgnc_id": 29112,
"hgvs_c": "c.348-18566C>T",
"hgvs_p": null,
"transcript": "NM_001376938.2",
"protein_id": "NP_001363867.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1222,
"cds_start": -4,
"cds_end": null,
"cds_length": 3669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "IQSEC1",
"gene_hgnc_id": 29112,
"hgvs_c": "c.348-18566C>T",
"hgvs_p": null,
"transcript": "ENST00000648114.1",
"protein_id": "ENSP00000497029.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1222,
"cds_start": -4,
"cds_end": null,
"cds_length": 3669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "IQSEC1",
"gene_hgnc_id": 29112,
"hgvs_c": "c.69-18566C>T",
"hgvs_p": null,
"transcript": "ENST00000646269.1",
"protein_id": "ENSP00000496366.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 964,
"cds_start": -4,
"cds_end": null,
"cds_length": 2895,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "IQSEC1",
"gene_hgnc_id": 29112,
"hgvs_c": "c.65+6956C>T",
"hgvs_p": null,
"transcript": "NM_014869.8",
"protein_id": "NP_055684.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 963,
"cds_start": -4,
"cds_end": null,
"cds_length": 2892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IQSEC1",
"gene_hgnc_id": 29112,
"hgvs_c": "c.-301-18566C>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": -4,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IQSEC1",
"gene_hgnc_id": 29112,
"hgvs_c": "c.-301-18566C>T",
"hgvs_p": null,
"transcript": "ENST00000648386.1",
"protein_id": "ENSP00000498148.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 809,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IQSEC1",
"gene_hgnc_id": 29112,
"hgvs_c": "c.78-18566C>T",
"hgvs_p": null,
"transcript": "ENST00000647458.1",
"protein_id": "ENSP00000495163.1",
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"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "IQSEC1",
"gene_hgnc_id": 29112,
"hgvs_c": "c.-301-18566C>T",
"hgvs_p": null,
"transcript": "ENST00000707112.1",
"protein_id": "ENSP00000516741.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "IQSEC1",
"gene_hgnc_id": 29112,
"hgvs_c": "n.104-18566C>T",
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"transcript": "ENST00000473088.1",
"protein_id": null,
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},
{
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],
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"gene_symbol": "IQSEC1",
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"hgvs_c": "c.348-18566C>T",
"hgvs_p": null,
"transcript": "XM_047449339.1",
"protein_id": "XP_047305295.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IQSEC1",
"gene_hgnc_id": 29112,
"hgvs_c": "c.303-18566C>T",
"hgvs_p": null,
"transcript": "XM_047449340.1",
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},
{
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],
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"intron_rank": 1,
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"gene_symbol": "IQSEC1",
"gene_hgnc_id": 29112,
"hgvs_c": "c.69-18566C>T",
"hgvs_p": null,
"transcript": "XM_011534306.4",
"protein_id": "XP_011532608.1",
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IQSEC1",
"gene_hgnc_id": 29112,
"hgvs_c": "c.69-18566C>T",
"hgvs_p": null,
"transcript": "XM_011534307.3",
"protein_id": "XP_011532609.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 1,
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"gene_symbol": "IQSEC1",
"gene_hgnc_id": 29112,
"hgvs_c": "c.65+6956C>T",
"hgvs_p": null,
"transcript": "XM_011534308.3",
"protein_id": "XP_011532610.1",
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},
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],
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"intron_rank": 1,
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"gene_symbol": "IQSEC1",
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"hgvs_c": "c.69-18566C>T",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "IQSEC1",
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"hgvs_c": "c.69-18566C>T",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IQSEC1",
"gene_hgnc_id": 29112,
"hgvs_c": "c.65+6956C>T",
"hgvs_p": null,
"transcript": "XM_047449343.1",
"protein_id": "XP_047305299.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "IQSEC1",
"gene_hgnc_id": 29112,
"hgvs_c": "c.348-18566C>T",
"hgvs_p": null,
"transcript": "XM_047449346.1",
"protein_id": "XP_047305302.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
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