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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: 2-48373312-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=48373312&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 48373312,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002158.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXN2",
"gene_hgnc_id": 5281,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Ala242Thr",
"transcript": "NM_002158.4",
"protein_id": "NP_002149.2",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 431,
"cds_start": 724,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1013,
"cdna_end": null,
"cdna_length": 5437,
"mane_select": "ENST00000340553.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002158.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXN2",
"gene_hgnc_id": 5281,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Ala242Thr",
"transcript": "ENST00000340553.8",
"protein_id": "ENSP00000343633.3",
"transcript_support_level": 1,
"aa_start": 242,
"aa_end": null,
"aa_length": 431,
"cds_start": 724,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1013,
"cdna_end": null,
"cdna_length": 5437,
"mane_select": "NM_002158.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340553.8"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXN2",
"gene_hgnc_id": 5281,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Ala242Thr",
"transcript": "NM_001375442.1",
"protein_id": "NP_001362371.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 431,
"cds_start": 724,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 2177,
"cdna_end": null,
"cdna_length": 6601,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375442.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXN2",
"gene_hgnc_id": 5281,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Ala242Thr",
"transcript": "NM_001375443.1",
"protein_id": "NP_001362372.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 431,
"cds_start": 724,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 5365,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375443.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXN2",
"gene_hgnc_id": 5281,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Ala242Thr",
"transcript": "NM_001375444.1",
"protein_id": "NP_001362373.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 431,
"cds_start": 724,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 871,
"cdna_end": null,
"cdna_length": 5295,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375444.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXN2",
"gene_hgnc_id": 5281,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Ala242Thr",
"transcript": "NM_001375445.1",
"protein_id": "NP_001362374.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 431,
"cds_start": 724,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1195,
"cdna_end": null,
"cdna_length": 5619,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375445.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXN2",
"gene_hgnc_id": 5281,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Ala242Thr",
"transcript": "NM_001375446.1",
"protein_id": "NP_001362375.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 431,
"cds_start": 724,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1120,
"cdna_end": null,
"cdna_length": 5544,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375446.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXN2",
"gene_hgnc_id": 5281,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Ala242Thr",
"transcript": "NM_001375447.1",
"protein_id": "NP_001362376.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 431,
"cds_start": 724,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1024,
"cdna_end": null,
"cdna_length": 5448,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375447.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXN2",
"gene_hgnc_id": 5281,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Ala242Thr",
"transcript": "NM_001375448.1",
"protein_id": "NP_001362377.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 431,
"cds_start": 724,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1146,
"cdna_end": null,
"cdna_length": 5570,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375448.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXN2",
"gene_hgnc_id": 5281,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Ala242Thr",
"transcript": "NM_001375449.1",
"protein_id": "NP_001362378.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 431,
"cds_start": 724,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1473,
"cdna_end": null,
"cdna_length": 5897,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375449.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXN2",
"gene_hgnc_id": 5281,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Ala242Thr",
"transcript": "NM_001375450.1",
"protein_id": "NP_001362379.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 431,
"cds_start": 724,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1288,
"cdna_end": null,
"cdna_length": 5712,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375450.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXN2",
"gene_hgnc_id": 5281,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Ala242Thr",
"transcript": "NM_001375451.1",
"protein_id": "NP_001362380.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 431,
"cds_start": 724,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1395,
"cdna_end": null,
"cdna_length": 5819,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375451.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXN2",
"gene_hgnc_id": 5281,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Ala242Thr",
"transcript": "NM_001375452.1",
"protein_id": "NP_001362381.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 431,
"cds_start": 724,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 2035,
"cdna_end": null,
"cdna_length": 6459,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375452.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXN2",
"gene_hgnc_id": 5281,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Ala242Thr",
"transcript": "ENST00000872826.1",
"protein_id": "ENSP00000542885.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 431,
"cds_start": 724,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1260,
"cdna_end": null,
"cdna_length": 5677,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872826.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXN2",
"gene_hgnc_id": 5281,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Ala242Thr",
"transcript": "ENST00000872827.1",
"protein_id": "ENSP00000542886.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 431,
"cds_start": 724,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1079,
"cdna_end": null,
"cdna_length": 5498,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872827.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXN2",
"gene_hgnc_id": 5281,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Ala242Thr",
"transcript": "ENST00000872828.1",
"protein_id": "ENSP00000542887.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 431,
"cds_start": 724,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1106,
"cdna_end": null,
"cdna_length": 5530,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872828.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXN2",
"gene_hgnc_id": 5281,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Ala242Thr",
"transcript": "ENST00000872829.1",
"protein_id": "ENSP00000542888.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 431,
"cds_start": 724,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 924,
"cdna_end": null,
"cdna_length": 5348,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872829.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXN2",
"gene_hgnc_id": 5281,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Ala242Thr",
"transcript": "ENST00000872830.1",
"protein_id": "ENSP00000542889.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 431,
"cds_start": 724,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1149,
"cdna_end": null,
"cdna_length": 5567,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872830.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXN2",
"gene_hgnc_id": 5281,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Ala242Thr",
"transcript": "ENST00000872831.1",
"protein_id": "ENSP00000542890.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 431,
"cds_start": 724,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1242,
"cdna_end": null,
"cdna_length": 4523,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872831.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXN2",
"gene_hgnc_id": 5281,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Ala242Thr",
"transcript": "ENST00000872832.1",
"protein_id": "ENSP00000542891.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 431,
"cds_start": 724,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 763,
"cdna_end": null,
"cdna_length": 5179,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872832.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXN2",
"gene_hgnc_id": 5281,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Ala242Thr",
"transcript": "ENST00000924484.1",
"protein_id": "ENSP00000594543.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 431,
"cds_start": 724,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1051,
"cdna_end": null,
"cdna_length": 5475,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924484.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXN2",
"gene_hgnc_id": 5281,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Ala242Thr",
"transcript": "ENST00000924485.1",
"protein_id": "ENSP00000594544.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 431,
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}
],
"message": null
}