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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: 8-86438618-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=86438618&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 86438618,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_007013.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWP1",
"gene_hgnc_id": 17004,
"hgvs_c": "c.1783C>T",
"hgvs_p": "p.Arg595Cys",
"transcript": "NM_007013.4",
"protein_id": "NP_008944.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 922,
"cds_start": 1783,
"cds_end": null,
"cds_length": 2769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000517970.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007013.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWP1",
"gene_hgnc_id": 17004,
"hgvs_c": "c.1783C>T",
"hgvs_p": "p.Arg595Cys",
"transcript": "ENST00000517970.6",
"protein_id": "ENSP00000427793.1",
"transcript_support_level": 1,
"aa_start": 595,
"aa_end": null,
"aa_length": 922,
"cds_start": 1783,
"cds_end": null,
"cds_length": 2769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007013.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517970.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWP1",
"gene_hgnc_id": 17004,
"hgvs_c": "c.1783C>T",
"hgvs_p": "p.Arg595Cys",
"transcript": "ENST00000265428.4",
"protein_id": "ENSP00000265428.4",
"transcript_support_level": 1,
"aa_start": 595,
"aa_end": null,
"aa_length": 922,
"cds_start": 1783,
"cds_end": null,
"cds_length": 2769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265428.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWP1",
"gene_hgnc_id": 17004,
"hgvs_c": "n.1437C>T",
"hgvs_p": null,
"transcript": "ENST00000518683.5",
"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": "ENST00000518683.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWP1",
"gene_hgnc_id": 17004,
"hgvs_c": "c.1783C>T",
"hgvs_p": "p.Arg595Cys",
"transcript": "ENST00000882789.1",
"protein_id": "ENSP00000552848.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 944,
"cds_start": 1783,
"cds_end": null,
"cds_length": 2835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882789.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWP1",
"gene_hgnc_id": 17004,
"hgvs_c": "c.1783C>T",
"hgvs_p": "p.Arg595Cys",
"transcript": "ENST00000942574.1",
"protein_id": "ENSP00000612633.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 944,
"cds_start": 1783,
"cds_end": null,
"cds_length": 2835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942574.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWP1",
"gene_hgnc_id": 17004,
"hgvs_c": "c.1807C>T",
"hgvs_p": "p.Arg603Cys",
"transcript": "ENST00000942573.1",
"protein_id": "ENSP00000612632.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 930,
"cds_start": 1807,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942573.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWP1",
"gene_hgnc_id": 17004,
"hgvs_c": "c.1783C>T",
"hgvs_p": "p.Arg595Cys",
"transcript": "ENST00000942578.1",
"protein_id": "ENSP00000612637.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 927,
"cds_start": 1783,
"cds_end": null,
"cds_length": 2784,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942578.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWP1",
"gene_hgnc_id": 17004,
"hgvs_c": "c.1780C>T",
"hgvs_p": "p.Arg594Cys",
"transcript": "ENST00000882781.1",
"protein_id": "ENSP00000552840.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 921,
"cds_start": 1780,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882781.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWP1",
"gene_hgnc_id": 17004,
"hgvs_c": "c.1780C>T",
"hgvs_p": "p.Arg594Cys",
"transcript": "ENST00000882783.1",
"protein_id": "ENSP00000552842.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 921,
"cds_start": 1780,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882783.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWP1",
"gene_hgnc_id": 17004,
"hgvs_c": "c.1780C>T",
"hgvs_p": "p.Arg594Cys",
"transcript": "ENST00000942571.1",
"protein_id": "ENSP00000612630.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 921,
"cds_start": 1780,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942571.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWP1",
"gene_hgnc_id": 17004,
"hgvs_c": "c.1735C>T",
"hgvs_p": "p.Arg579Cys",
"transcript": "ENST00000942576.1",
"protein_id": "ENSP00000612635.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 906,
"cds_start": 1735,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942576.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWP1",
"gene_hgnc_id": 17004,
"hgvs_c": "c.1717C>T",
"hgvs_p": "p.Arg573Cys",
"transcript": "ENST00000882788.1",
"protein_id": "ENSP00000552847.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 900,
"cds_start": 1717,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882788.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWP1",
"gene_hgnc_id": 17004,
"hgvs_c": "c.1711C>T",
"hgvs_p": "p.Arg571Cys",
"transcript": "ENST00000882780.1",
"protein_id": "ENSP00000552839.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 898,
"cds_start": 1711,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882780.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWP1",
"gene_hgnc_id": 17004,
"hgvs_c": "c.1711C>T",
"hgvs_p": "p.Arg571Cys",
"transcript": "ENST00000942569.1",
"protein_id": "ENSP00000612628.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 898,
"cds_start": 1711,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942569.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWP1",
"gene_hgnc_id": 17004,
"hgvs_c": "c.1708C>T",
"hgvs_p": "p.Arg570Cys",
"transcript": "ENST00000882790.1",
"protein_id": "ENSP00000552849.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 897,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882790.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWP1",
"gene_hgnc_id": 17004,
"hgvs_c": "c.1708C>T",
"hgvs_p": "p.Arg570Cys",
"transcript": "ENST00000942575.1",
"protein_id": "ENSP00000612634.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 897,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942575.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWP1",
"gene_hgnc_id": 17004,
"hgvs_c": "c.1645C>T",
"hgvs_p": "p.Arg549Cys",
"transcript": "ENST00000882782.1",
"protein_id": "ENSP00000552841.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 876,
"cds_start": 1645,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882782.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWP1",
"gene_hgnc_id": 17004,
"hgvs_c": "c.1645C>T",
"hgvs_p": "p.Arg549Cys",
"transcript": "ENST00000882786.1",
"protein_id": "ENSP00000552845.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 876,
"cds_start": 1645,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882786.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWP1",
"gene_hgnc_id": 17004,
"hgvs_c": "c.1603C>T",
"hgvs_p": "p.Arg535Cys",
"transcript": "ENST00000882784.1",
"protein_id": "ENSP00000552843.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 862,
"cds_start": 1603,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882784.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWP1",
"gene_hgnc_id": 17004,
"hgvs_c": "c.1594C>T",
"hgvs_p": "p.Arg532Cys",
"transcript": "ENST00000942580.1",
"protein_id": "ENSP00000612639.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 859,
"cds_start": 1594,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942580.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWP1",
"gene_hgnc_id": 17004,
"hgvs_c": "c.1573C>T",
"hgvs_p": "p.Arg525Cys",
"transcript": "ENST00000942572.1",
"protein_id": "ENSP00000612631.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 852,
"cds_start": 1573,
"cds_end": null,
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"phenotype_combined": "not specified",
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}
],
"message": null
}