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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: 19-55274422-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=55274422&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 55274422,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001297600.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPBP1",
"gene_hgnc_id": 24989,
"hgvs_c": "c.616G>A",
"hgvs_p": "p.Val206Ile",
"transcript": "NM_012267.5",
"protein_id": "NP_036399.3",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 359,
"cds_start": 616,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000433386.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012267.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPBP1",
"gene_hgnc_id": 24989,
"hgvs_c": "c.616G>A",
"hgvs_p": "p.Val206Ile",
"transcript": "ENST00000433386.7",
"protein_id": "ENSP00000398244.1",
"transcript_support_level": 1,
"aa_start": 206,
"aa_end": null,
"aa_length": 359,
"cds_start": 616,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012267.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433386.7"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPBP1",
"gene_hgnc_id": 24989,
"hgvs_c": "c.616G>A",
"hgvs_p": "p.Val206Ile",
"transcript": "ENST00000255631.9",
"protein_id": "ENSP00000255631.4",
"transcript_support_level": 1,
"aa_start": 206,
"aa_end": null,
"aa_length": 359,
"cds_start": 616,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000255631.9"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPBP1",
"gene_hgnc_id": 24989,
"hgvs_c": "c.616G>A",
"hgvs_p": "p.Val206Ile",
"transcript": "ENST00000587922.5",
"protein_id": "ENSP00000467574.1",
"transcript_support_level": 1,
"aa_start": 206,
"aa_end": null,
"aa_length": 359,
"cds_start": 616,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587922.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPBP1",
"gene_hgnc_id": 24989,
"hgvs_c": "c.754G>A",
"hgvs_p": "p.Val252Ile",
"transcript": "NM_001297600.2",
"protein_id": "NP_001284529.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 405,
"cds_start": 754,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297600.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPBP1",
"gene_hgnc_id": 24989,
"hgvs_c": "c.616G>A",
"hgvs_p": "p.Val206Ile",
"transcript": "NM_001130106.2",
"protein_id": "NP_001123578.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 359,
"cds_start": 616,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130106.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPBP1",
"gene_hgnc_id": 24989,
"hgvs_c": "c.616G>A",
"hgvs_p": "p.Val206Ile",
"transcript": "ENST00000874509.1",
"protein_id": "ENSP00000544568.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 359,
"cds_start": 616,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874509.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPBP1",
"gene_hgnc_id": 24989,
"hgvs_c": "c.616G>A",
"hgvs_p": "p.Val206Ile",
"transcript": "ENST00000874510.1",
"protein_id": "ENSP00000544569.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 359,
"cds_start": 616,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874510.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPBP1",
"gene_hgnc_id": 24989,
"hgvs_c": "c.616G>A",
"hgvs_p": "p.Val206Ile",
"transcript": "ENST00000874511.1",
"protein_id": "ENSP00000544570.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 359,
"cds_start": 616,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874511.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPBP1",
"gene_hgnc_id": 24989,
"hgvs_c": "c.616G>A",
"hgvs_p": "p.Val206Ile",
"transcript": "ENST00000874512.1",
"protein_id": "ENSP00000544571.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 359,
"cds_start": 616,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874512.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPBP1",
"gene_hgnc_id": 24989,
"hgvs_c": "c.616G>A",
"hgvs_p": "p.Val206Ile",
"transcript": "ENST00000874513.1",
"protein_id": "ENSP00000544572.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 359,
"cds_start": 616,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874513.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPBP1",
"gene_hgnc_id": 24989,
"hgvs_c": "c.616G>A",
"hgvs_p": "p.Val206Ile",
"transcript": "ENST00000874514.1",
"protein_id": "ENSP00000544573.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 359,
"cds_start": 616,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874514.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPBP1",
"gene_hgnc_id": 24989,
"hgvs_c": "c.616G>A",
"hgvs_p": "p.Val206Ile",
"transcript": "ENST00000933732.1",
"protein_id": "ENSP00000603791.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 359,
"cds_start": 616,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933732.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPBP1",
"gene_hgnc_id": 24989,
"hgvs_c": "c.616G>A",
"hgvs_p": "p.Val206Ile",
"transcript": "ENST00000933733.1",
"protein_id": "ENSP00000603792.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 359,
"cds_start": 616,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933733.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPBP1",
"gene_hgnc_id": 24989,
"hgvs_c": "c.616G>A",
"hgvs_p": "p.Val206Ile",
"transcript": "ENST00000933734.1",
"protein_id": "ENSP00000603793.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 359,
"cds_start": 616,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933734.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPBP1",
"gene_hgnc_id": 24989,
"hgvs_c": "c.616G>A",
"hgvs_p": "p.Val206Ile",
"transcript": "ENST00000933735.1",
"protein_id": "ENSP00000603794.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 359,
"cds_start": 616,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933735.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPBP1",
"gene_hgnc_id": 24989,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Val198Ile",
"transcript": "ENST00000933736.1",
"protein_id": "ENSP00000603795.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 351,
"cds_start": 592,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933736.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPBP1",
"gene_hgnc_id": 24989,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Val198Ile",
"transcript": "ENST00000957929.1",
"protein_id": "ENSP00000627988.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 351,
"cds_start": 592,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957929.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPBP1",
"gene_hgnc_id": 24989,
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Val184Ile",
"transcript": "ENST00000874515.1",
"protein_id": "ENSP00000544574.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 337,
"cds_start": 550,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874515.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPBP1",
"gene_hgnc_id": 24989,
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Val184Ile",
"transcript": "ENST00000874516.1",
"protein_id": "ENSP00000544575.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 337,
"cds_start": 550,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874516.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPBP1",
"gene_hgnc_id": 24989,
"hgvs_c": "c.616G>A",
"hgvs_p": "p.Val206Ile",
"transcript": "ENST00000957930.1",
"protein_id": "ENSP00000627989.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 307,
"cds_start": 616,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957930.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPBP1",
"gene_hgnc_id": 24989,
"hgvs_c": "c.616G>A",
"hgvs_p": "p.Val206Ile",
"transcript": "ENST00000593263.5",
"protein_id": "ENSP00000465876.1",
"transcript_support_level": 2,
"aa_start": 206,
"aa_end": null,
"aa_length": 213,
"cds_start": 616,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}