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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: 3-146199914-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=146199914&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 146199914,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_020353.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR4",
"gene_hgnc_id": 16497,
"hgvs_c": "c.523G>T",
"hgvs_p": "p.Val175Phe",
"transcript": "NM_020353.3",
"protein_id": "NP_065086.2",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 329,
"cds_start": 523,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000354952.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020353.3"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR4",
"gene_hgnc_id": 16497,
"hgvs_c": "c.523G>T",
"hgvs_p": "p.Val175Phe",
"transcript": "ENST00000354952.7",
"protein_id": "ENSP00000347038.2",
"transcript_support_level": 1,
"aa_start": 175,
"aa_end": null,
"aa_length": 329,
"cds_start": 523,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020353.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354952.7"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR4",
"gene_hgnc_id": 16497,
"hgvs_c": "c.523G>T",
"hgvs_p": "p.Val175Phe",
"transcript": "NM_001128304.2",
"protein_id": "NP_001121776.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 329,
"cds_start": 523,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128304.2"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR4",
"gene_hgnc_id": 16497,
"hgvs_c": "c.523G>T",
"hgvs_p": "p.Val175Phe",
"transcript": "NM_001128305.2",
"protein_id": "NP_001121777.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 329,
"cds_start": 523,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128305.2"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR4",
"gene_hgnc_id": 16497,
"hgvs_c": "c.523G>T",
"hgvs_p": "p.Val175Phe",
"transcript": "ENST00000446574.6",
"protein_id": "ENSP00000399315.2",
"transcript_support_level": 2,
"aa_start": 175,
"aa_end": null,
"aa_length": 329,
"cds_start": 523,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446574.6"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR4",
"gene_hgnc_id": 16497,
"hgvs_c": "c.523G>T",
"hgvs_p": "p.Val175Phe",
"transcript": "ENST00000493382.5",
"protein_id": "ENSP00000419040.1",
"transcript_support_level": 2,
"aa_start": 175,
"aa_end": null,
"aa_length": 329,
"cds_start": 523,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000493382.5"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR4",
"gene_hgnc_id": 16497,
"hgvs_c": "c.523G>T",
"hgvs_p": "p.Val175Phe",
"transcript": "ENST00000906243.1",
"protein_id": "ENSP00000576302.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 329,
"cds_start": 523,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906243.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR4",
"gene_hgnc_id": 16497,
"hgvs_c": "c.523G>T",
"hgvs_p": "p.Val175Phe",
"transcript": "ENST00000906244.1",
"protein_id": "ENSP00000576303.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 329,
"cds_start": 523,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906244.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR4",
"gene_hgnc_id": 16497,
"hgvs_c": "c.523G>T",
"hgvs_p": "p.Val175Phe",
"transcript": "ENST00000906245.1",
"protein_id": "ENSP00000576304.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 329,
"cds_start": 523,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906245.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR4",
"gene_hgnc_id": 16497,
"hgvs_c": "c.523G>T",
"hgvs_p": "p.Val175Phe",
"transcript": "ENST00000906246.1",
"protein_id": "ENSP00000576305.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 329,
"cds_start": 523,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906246.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR4",
"gene_hgnc_id": 16497,
"hgvs_c": "c.523G>T",
"hgvs_p": "p.Val175Phe",
"transcript": "ENST00000906247.1",
"protein_id": "ENSP00000576306.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 329,
"cds_start": 523,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906247.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR4",
"gene_hgnc_id": 16497,
"hgvs_c": "c.523G>T",
"hgvs_p": "p.Val175Phe",
"transcript": "ENST00000906248.1",
"protein_id": "ENSP00000576307.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 329,
"cds_start": 523,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906248.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR4",
"gene_hgnc_id": 16497,
"hgvs_c": "c.523G>T",
"hgvs_p": "p.Val175Phe",
"transcript": "ENST00000951288.1",
"protein_id": "ENSP00000621347.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 329,
"cds_start": 523,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951288.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR4",
"gene_hgnc_id": 16497,
"hgvs_c": "c.523G>T",
"hgvs_p": "p.Val175Phe",
"transcript": "ENST00000951289.1",
"protein_id": "ENSP00000621348.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 329,
"cds_start": 523,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951289.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR4",
"gene_hgnc_id": 16497,
"hgvs_c": "c.523G>T",
"hgvs_p": "p.Val175Phe",
"transcript": "ENST00000951290.1",
"protein_id": "ENSP00000621349.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 329,
"cds_start": 523,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951290.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR4",
"gene_hgnc_id": 16497,
"hgvs_c": "c.523G>T",
"hgvs_p": "p.Val175Phe",
"transcript": "ENST00000951291.1",
"protein_id": "ENSP00000621350.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 329,
"cds_start": 523,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951291.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR4",
"gene_hgnc_id": 16497,
"hgvs_c": "c.523G>T",
"hgvs_p": "p.Val175Phe",
"transcript": "ENST00000951292.1",
"protein_id": "ENSP00000621351.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 329,
"cds_start": 523,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951292.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR4",
"gene_hgnc_id": 16497,
"hgvs_c": "c.523G>T",
"hgvs_p": "p.Val175Phe",
"transcript": "ENST00000460350.5",
"protein_id": "ENSP00000417896.1",
"transcript_support_level": 5,
"aa_start": 175,
"aa_end": null,
"aa_length": 261,
"cds_start": 523,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000460350.5"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR4",
"gene_hgnc_id": 16497,
"hgvs_c": "c.523G>T",
"hgvs_p": "p.Val175Phe",
"transcript": "ENST00000476202.5",
"protein_id": "ENSP00000418173.1",
"transcript_support_level": 5,
"aa_start": 175,
"aa_end": null,
"aa_length": 207,
"cds_start": 523,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000476202.5"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR4",
"gene_hgnc_id": 16497,
"hgvs_c": "c.523G>T",
"hgvs_p": "p.Val175Phe",
"transcript": "XM_005247654.3",
"protein_id": "XP_005247711.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 329,
"cds_start": 523,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005247654.3"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR4",
"gene_hgnc_id": 16497,
"hgvs_c": "c.523G>T",
"hgvs_p": "p.Val175Phe",
"transcript": "XM_005247655.3",
"protein_id": "XP_005247712.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 329,
"cds_start": 523,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005247655.3"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR4",
"gene_hgnc_id": 16497,
"hgvs_c": "c.523G>T",
"hgvs_p": "p.Val175Phe",
"transcript": "XM_011513031.3",
"protein_id": "XP_011511333.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 329,
"cds_start": 523,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513031.3"
},
{
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}
],
"message": null
}