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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: 21-42862357-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=42862357&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 42862357,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_018669.6",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.491A>T",
"hgvs_p": "p.Asp164Val",
"transcript": "NM_018669.6",
"protein_id": "NP_061139.2",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 412,
"cds_start": 491,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000398208.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018669.6"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.491A>T",
"hgvs_p": "p.Asp164Val",
"transcript": "ENST00000398208.3",
"protein_id": "ENSP00000381266.2",
"transcript_support_level": 1,
"aa_start": 164,
"aa_end": null,
"aa_length": 412,
"cds_start": 491,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018669.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398208.3"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.491A>T",
"hgvs_p": "p.Asp164Val",
"transcript": "ENST00000330317.6",
"protein_id": "ENSP00000328671.2",
"transcript_support_level": 1,
"aa_start": 164,
"aa_end": null,
"aa_length": 412,
"cds_start": 491,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000330317.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "n.406A>T",
"hgvs_p": null,
"transcript": "ENST00000476326.5",
"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": "pseudogene",
"feature": "ENST00000476326.5"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.491A>T",
"hgvs_p": "p.Asp164Val",
"transcript": "NM_033661.5",
"protein_id": "NP_387510.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 412,
"cds_start": 491,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033661.5"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.491A>T",
"hgvs_p": "p.Asp164Val",
"transcript": "NM_001260474.2",
"protein_id": "NP_001247403.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 411,
"cds_start": 491,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001260474.2"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.491A>T",
"hgvs_p": "p.Asp164Val",
"transcript": "ENST00000899716.1",
"protein_id": "ENSP00000569775.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 411,
"cds_start": 491,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899716.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.491A>T",
"hgvs_p": "p.Asp164Val",
"transcript": "ENST00000899718.1",
"protein_id": "ENSP00000569777.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 411,
"cds_start": 491,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899718.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.425A>T",
"hgvs_p": "p.Asp142Val",
"transcript": "ENST00000931736.1",
"protein_id": "ENSP00000601795.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 390,
"cds_start": 425,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931736.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.491A>T",
"hgvs_p": "p.Asp164Val",
"transcript": "ENST00000899717.1",
"protein_id": "ENSP00000569776.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 379,
"cds_start": 491,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899717.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.491A>T",
"hgvs_p": "p.Asp164Val",
"transcript": "ENST00000931737.1",
"protein_id": "ENSP00000601796.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 378,
"cds_start": 491,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931737.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.350A>T",
"hgvs_p": "p.Asp117Val",
"transcript": "ENST00000931738.1",
"protein_id": "ENSP00000601797.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 365,
"cds_start": 350,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931738.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.350A>T",
"hgvs_p": "p.Asp117Val",
"transcript": "ENST00000931739.1",
"protein_id": "ENSP00000601798.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 365,
"cds_start": 350,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931739.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.284A>T",
"hgvs_p": "p.Asp95Val",
"transcript": "ENST00000899719.1",
"protein_id": "ENSP00000569778.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 343,
"cds_start": 284,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899719.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.284A>T",
"hgvs_p": "p.Asp95Val",
"transcript": "ENST00000949296.1",
"protein_id": "ENSP00000619355.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 343,
"cds_start": 284,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949296.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.53A>T",
"hgvs_p": "p.Asp18Val",
"transcript": "NM_001260475.2",
"protein_id": "NP_001247404.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 266,
"cds_start": 53,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001260475.2"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.53A>T",
"hgvs_p": "p.Asp18Val",
"transcript": "NM_001260476.2",
"protein_id": "NP_001247405.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 266,
"cds_start": 53,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001260476.2"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.53A>T",
"hgvs_p": "p.Asp18Val",
"transcript": "NM_001260477.2",
"protein_id": "NP_001247406.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 266,
"cds_start": 53,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001260477.2"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.479A>T",
"hgvs_p": "p.Asp160Val",
"transcript": "XM_011529433.2",
"protein_id": "XP_011527735.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 408,
"cds_start": 479,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529433.2"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.53A>T",
"hgvs_p": "p.Asp18Val",
"transcript": "XM_024452047.2",
"protein_id": "XP_024307815.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 266,
"cds_start": 53,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452047.2"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.53A>T",
"hgvs_p": "p.Asp18Val",
"transcript": "XM_024452048.2",
"protein_id": "XP_024307816.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 266,
"cds_start": 53,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452048.2"
},
{
"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": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.297-2635A>T",
"hgvs_p": null,
"transcript": "ENST00000931735.1",
"protein_id": "ENSP00000601794.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 322,
"cds_start": null,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931735.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
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}
],
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}