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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: 16-650079-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=650079&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 650079,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001438707.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR90",
"gene_hgnc_id": 26960,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ser64Phe",
"transcript": "NM_145294.5",
"protein_id": "NP_660337.3",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1748,
"cds_start": 191,
"cds_end": null,
"cds_length": 5247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000293879.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145294.5"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR90",
"gene_hgnc_id": 26960,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ser64Phe",
"transcript": "ENST00000293879.9",
"protein_id": "ENSP00000293879.4",
"transcript_support_level": 5,
"aa_start": 64,
"aa_end": null,
"aa_length": 1748,
"cds_start": 191,
"cds_end": null,
"cds_length": 5247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_145294.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000293879.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR90",
"gene_hgnc_id": 26960,
"hgvs_c": "n.255C>T",
"hgvs_p": null,
"transcript": "ENST00000420061.6",
"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": "ENST00000420061.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR90",
"gene_hgnc_id": 26960,
"hgvs_c": "n.255C>T",
"hgvs_p": null,
"transcript": "ENST00000549648.5",
"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": "ENST00000549648.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR90",
"gene_hgnc_id": 26960,
"hgvs_c": "n.633C>T",
"hgvs_p": null,
"transcript": "ENST00000552943.5",
"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": "ENST00000552943.5"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR90",
"gene_hgnc_id": 26960,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ser64Phe",
"transcript": "NM_001438707.1",
"protein_id": "NP_001425636.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1833,
"cds_start": 191,
"cds_end": null,
"cds_length": 5502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438707.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR90",
"gene_hgnc_id": 26960,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ser64Phe",
"transcript": "NM_001438708.1",
"protein_id": "NP_001425637.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1832,
"cds_start": 191,
"cds_end": null,
"cds_length": 5499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438708.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR90",
"gene_hgnc_id": 26960,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ser64Phe",
"transcript": "ENST00000909862.1",
"protein_id": "ENSP00000579921.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1832,
"cds_start": 191,
"cds_end": null,
"cds_length": 5499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909862.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR90",
"gene_hgnc_id": 26960,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ser64Phe",
"transcript": "ENST00000936387.1",
"protein_id": "ENSP00000606446.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1761,
"cds_start": 191,
"cds_end": null,
"cds_length": 5286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936387.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR90",
"gene_hgnc_id": 26960,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ser64Phe",
"transcript": "NM_001438709.1",
"protein_id": "NP_001425638.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1756,
"cds_start": 191,
"cds_end": null,
"cds_length": 5271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438709.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR90",
"gene_hgnc_id": 26960,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ser64Phe",
"transcript": "NM_001438710.1",
"protein_id": "NP_001425639.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1751,
"cds_start": 191,
"cds_end": null,
"cds_length": 5256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438710.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR90",
"gene_hgnc_id": 26960,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ser64Phe",
"transcript": "ENST00000909860.1",
"protein_id": "ENSP00000579919.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1751,
"cds_start": 191,
"cds_end": null,
"cds_length": 5256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909860.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR90",
"gene_hgnc_id": 26960,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ser64Phe",
"transcript": "NM_001438711.1",
"protein_id": "NP_001425640.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1750,
"cds_start": 191,
"cds_end": null,
"cds_length": 5253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438711.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR90",
"gene_hgnc_id": 26960,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ser64Phe",
"transcript": "ENST00000549091.5",
"protein_id": "ENSP00000448122.1",
"transcript_support_level": 5,
"aa_start": 64,
"aa_end": null,
"aa_length": 1750,
"cds_start": 191,
"cds_end": null,
"cds_length": 5253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549091.5"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR90",
"gene_hgnc_id": 26960,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ser64Phe",
"transcript": "NM_001438712.1",
"protein_id": "NP_001425641.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1749,
"cds_start": 191,
"cds_end": null,
"cds_length": 5250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438712.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR90",
"gene_hgnc_id": 26960,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ser64Phe",
"transcript": "ENST00000909859.1",
"protein_id": "ENSP00000579918.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1749,
"cds_start": 191,
"cds_end": null,
"cds_length": 5250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909859.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR90",
"gene_hgnc_id": 26960,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ser64Phe",
"transcript": "ENST00000936386.1",
"protein_id": "ENSP00000606445.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1738,
"cds_start": 191,
"cds_end": null,
"cds_length": 5217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936386.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR90",
"gene_hgnc_id": 26960,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ser64Phe",
"transcript": "ENST00000909863.1",
"protein_id": "ENSP00000579922.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1737,
"cds_start": 191,
"cds_end": null,
"cds_length": 5214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909863.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR90",
"gene_hgnc_id": 26960,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ser64Phe",
"transcript": "ENST00000909864.1",
"protein_id": "ENSP00000579923.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1713,
"cds_start": 191,
"cds_end": null,
"cds_length": 5142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909864.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR90",
"gene_hgnc_id": 26960,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ser64Phe",
"transcript": "NM_001438713.1",
"protein_id": "NP_001425642.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1679,
"cds_start": 191,
"cds_end": null,
"cds_length": 5040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438713.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR90",
"gene_hgnc_id": 26960,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ser64Phe",
"transcript": "ENST00000909861.1",
"protein_id": "ENSP00000579920.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1679,
"cds_start": 191,
"cds_end": null,
"cds_length": 5040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909861.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR90",
"gene_hgnc_id": 26960,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ser64Phe",
"transcript": "NM_001438714.1",
"protein_id": "NP_001425643.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1674,
"cds_start": 191,
"cds_end": null,
"cds_length": 5025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438714.1"
},
{
"aa_ref": "S",
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"phenotype_combined": "not specified",
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}
],
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}