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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: 2-74422355-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=74422355&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 74422355,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001320823.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR54",
"gene_hgnc_id": 25770,
"hgvs_c": "c.202A>T",
"hgvs_p": "p.Ser68Cys",
"transcript": "NM_032118.4",
"protein_id": "NP_115494.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 334,
"cds_start": 202,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000348227.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032118.4"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR54",
"gene_hgnc_id": 25770,
"hgvs_c": "c.202A>T",
"hgvs_p": "p.Ser68Cys",
"transcript": "ENST00000348227.4",
"protein_id": "ENSP00000006526.6",
"transcript_support_level": 1,
"aa_start": 68,
"aa_end": null,
"aa_length": 334,
"cds_start": 202,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032118.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348227.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR54",
"gene_hgnc_id": 25770,
"hgvs_c": "n.612A>T",
"hgvs_p": null,
"transcript": "ENST00000465134.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000465134.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR54",
"gene_hgnc_id": 25770,
"hgvs_c": "c.247A>T",
"hgvs_p": "p.Ser83Cys",
"transcript": "NM_001320823.2",
"protein_id": "NP_001307752.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 349,
"cds_start": 247,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320823.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR54",
"gene_hgnc_id": 25770,
"hgvs_c": "c.202A>T",
"hgvs_p": "p.Ser68Cys",
"transcript": "NM_001320824.2",
"protein_id": "NP_001307753.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 334,
"cds_start": 202,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320824.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR54",
"gene_hgnc_id": 25770,
"hgvs_c": "c.202A>T",
"hgvs_p": "p.Ser68Cys",
"transcript": "ENST00000861017.1",
"protein_id": "ENSP00000531076.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 334,
"cds_start": 202,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861017.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR54",
"gene_hgnc_id": 25770,
"hgvs_c": "c.202A>T",
"hgvs_p": "p.Ser68Cys",
"transcript": "ENST00000861018.1",
"protein_id": "ENSP00000531077.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 334,
"cds_start": 202,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861018.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR54",
"gene_hgnc_id": 25770,
"hgvs_c": "c.202A>T",
"hgvs_p": "p.Ser68Cys",
"transcript": "ENST00000861019.1",
"protein_id": "ENSP00000531078.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 334,
"cds_start": 202,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861019.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR54",
"gene_hgnc_id": 25770,
"hgvs_c": "c.202A>T",
"hgvs_p": "p.Ser68Cys",
"transcript": "ENST00000917846.1",
"protein_id": "ENSP00000587905.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 334,
"cds_start": 202,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917846.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR54",
"gene_hgnc_id": 25770,
"hgvs_c": "c.202A>T",
"hgvs_p": "p.Ser68Cys",
"transcript": "ENST00000917848.1",
"protein_id": "ENSP00000587907.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 334,
"cds_start": 202,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917848.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR54",
"gene_hgnc_id": 25770,
"hgvs_c": "c.202A>T",
"hgvs_p": "p.Ser68Cys",
"transcript": "ENST00000917852.1",
"protein_id": "ENSP00000587911.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 334,
"cds_start": 202,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917852.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR54",
"gene_hgnc_id": 25770,
"hgvs_c": "c.202A>T",
"hgvs_p": "p.Ser68Cys",
"transcript": "ENST00000917855.1",
"protein_id": "ENSP00000587914.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 330,
"cds_start": 202,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917855.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR54",
"gene_hgnc_id": 25770,
"hgvs_c": "c.202A>T",
"hgvs_p": "p.Ser68Cys",
"transcript": "ENST00000960089.1",
"protein_id": "ENSP00000630148.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 330,
"cds_start": 202,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960089.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR54",
"gene_hgnc_id": 25770,
"hgvs_c": "c.202A>T",
"hgvs_p": "p.Ser68Cys",
"transcript": "ENST00000861020.1",
"protein_id": "ENSP00000531079.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 316,
"cds_start": 202,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861020.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR54",
"gene_hgnc_id": 25770,
"hgvs_c": "c.202A>T",
"hgvs_p": "p.Ser68Cys",
"transcript": "ENST00000917849.1",
"protein_id": "ENSP00000587908.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 316,
"cds_start": 202,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917849.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR54",
"gene_hgnc_id": 25770,
"hgvs_c": "c.202A>T",
"hgvs_p": "p.Ser68Cys",
"transcript": "ENST00000917850.1",
"protein_id": "ENSP00000587909.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 316,
"cds_start": 202,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917850.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR54",
"gene_hgnc_id": 25770,
"hgvs_c": "c.202A>T",
"hgvs_p": "p.Ser68Cys",
"transcript": "ENST00000960088.1",
"protein_id": "ENSP00000630147.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 290,
"cds_start": 202,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960088.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR54",
"gene_hgnc_id": 25770,
"hgvs_c": "c.202A>T",
"hgvs_p": "p.Ser68Cys",
"transcript": "ENST00000960090.1",
"protein_id": "ENSP00000630149.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 290,
"cds_start": 202,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960090.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR54",
"gene_hgnc_id": 25770,
"hgvs_c": "c.202A>T",
"hgvs_p": "p.Ser68Cys",
"transcript": "ENST00000917847.1",
"protein_id": "ENSP00000587906.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 275,
"cds_start": 202,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917847.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR54",
"gene_hgnc_id": 25770,
"hgvs_c": "c.202A>T",
"hgvs_p": "p.Ser68Cys",
"transcript": "ENST00000917853.1",
"protein_id": "ENSP00000587912.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 251,
"cds_start": 202,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917853.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR54",
"gene_hgnc_id": 25770,
"hgvs_c": "c.202A>T",
"hgvs_p": "p.Ser68Cys",
"transcript": "ENST00000917851.1",
"protein_id": "ENSP00000587910.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 163,
"cds_start": 202,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917851.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR54",
"gene_hgnc_id": 25770,
"hgvs_c": "c.202A>T",
"hgvs_p": "p.Ser68Cys",
"transcript": "XM_047445958.1",
"protein_id": "XP_047301914.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 203,
"cds_start": 202,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445958.1"
},
{
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}
],
"message": null
}