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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: 19-18568593-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=18568593&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 18568593,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024069.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KXD1",
"gene_hgnc_id": 28420,
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Arg165Cys",
"transcript": "NM_024069.4",
"protein_id": "NP_076974.2",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 176,
"cds_start": 493,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000222307.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024069.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KXD1",
"gene_hgnc_id": 28420,
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Arg165Cys",
"transcript": "ENST00000222307.9",
"protein_id": "ENSP00000222307.3",
"transcript_support_level": 1,
"aa_start": 165,
"aa_end": null,
"aa_length": 176,
"cds_start": 493,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024069.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000222307.9"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KXD1",
"gene_hgnc_id": 28420,
"hgvs_c": "c.577C>T",
"hgvs_p": "p.Arg193Cys",
"transcript": "ENST00000916838.1",
"protein_id": "ENSP00000586897.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 204,
"cds_start": 577,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916838.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KXD1",
"gene_hgnc_id": 28420,
"hgvs_c": "c.550C>T",
"hgvs_p": "p.Arg184Cys",
"transcript": "ENST00000601630.5",
"protein_id": "ENSP00000469648.1",
"transcript_support_level": 3,
"aa_start": 184,
"aa_end": null,
"aa_length": 195,
"cds_start": 550,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601630.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KXD1",
"gene_hgnc_id": 28420,
"hgvs_c": "c.550C>T",
"hgvs_p": "p.Arg184Cys",
"transcript": "ENST00000916834.1",
"protein_id": "ENSP00000586893.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 195,
"cds_start": 550,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916834.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KXD1",
"gene_hgnc_id": 28420,
"hgvs_c": "c.550C>T",
"hgvs_p": "p.Arg184Cys",
"transcript": "ENST00000916836.1",
"protein_id": "ENSP00000586895.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 195,
"cds_start": 550,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916836.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KXD1",
"gene_hgnc_id": 28420,
"hgvs_c": "c.550C>T",
"hgvs_p": "p.Arg184Cys",
"transcript": "ENST00000916839.1",
"protein_id": "ENSP00000586898.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 195,
"cds_start": 550,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916839.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KXD1",
"gene_hgnc_id": 28420,
"hgvs_c": "c.550C>T",
"hgvs_p": "p.Arg184Cys",
"transcript": "ENST00000916842.1",
"protein_id": "ENSP00000586901.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 195,
"cds_start": 550,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916842.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KXD1",
"gene_hgnc_id": 28420,
"hgvs_c": "c.550C>T",
"hgvs_p": "p.Arg184Cys",
"transcript": "ENST00000916844.1",
"protein_id": "ENSP00000586903.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 195,
"cds_start": 550,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916844.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KXD1",
"gene_hgnc_id": 28420,
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Arg165Cys",
"transcript": "NM_001171948.2",
"protein_id": "NP_001165419.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 176,
"cds_start": 493,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171948.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KXD1",
"gene_hgnc_id": 28420,
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Arg165Cys",
"transcript": "NM_001171949.2",
"protein_id": "NP_001165420.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 176,
"cds_start": 493,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171949.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KXD1",
"gene_hgnc_id": 28420,
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Arg165Cys",
"transcript": "ENST00000539106.5",
"protein_id": "ENSP00000438903.1",
"transcript_support_level": 3,
"aa_start": 165,
"aa_end": null,
"aa_length": 176,
"cds_start": 493,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539106.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KXD1",
"gene_hgnc_id": 28420,
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Arg165Cys",
"transcript": "ENST00000540691.5",
"protein_id": "ENSP00000443549.1",
"transcript_support_level": 3,
"aa_start": 165,
"aa_end": null,
"aa_length": 176,
"cds_start": 493,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540691.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KXD1",
"gene_hgnc_id": 28420,
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Arg165Cys",
"transcript": "ENST00000595073.5",
"protein_id": "ENSP00000471554.1",
"transcript_support_level": 5,
"aa_start": 165,
"aa_end": null,
"aa_length": 176,
"cds_start": 493,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000595073.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KXD1",
"gene_hgnc_id": 28420,
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Arg165Cys",
"transcript": "ENST00000599319.5",
"protein_id": "ENSP00000468990.1",
"transcript_support_level": 3,
"aa_start": 165,
"aa_end": null,
"aa_length": 176,
"cds_start": 493,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599319.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KXD1",
"gene_hgnc_id": 28420,
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Arg165Cys",
"transcript": "ENST00000602094.5",
"protein_id": "ENSP00000472836.1",
"transcript_support_level": 2,
"aa_start": 165,
"aa_end": null,
"aa_length": 176,
"cds_start": 493,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000602094.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KXD1",
"gene_hgnc_id": 28420,
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Arg165Cys",
"transcript": "ENST00000859406.1",
"protein_id": "ENSP00000529465.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 176,
"cds_start": 493,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859406.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KXD1",
"gene_hgnc_id": 28420,
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Arg165Cys",
"transcript": "ENST00000859407.1",
"protein_id": "ENSP00000529466.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 176,
"cds_start": 493,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859407.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KXD1",
"gene_hgnc_id": 28420,
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Arg165Cys",
"transcript": "ENST00000859408.1",
"protein_id": "ENSP00000529467.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 176,
"cds_start": 493,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859408.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KXD1",
"gene_hgnc_id": 28420,
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Arg165Cys",
"transcript": "ENST00000859409.1",
"protein_id": "ENSP00000529468.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 176,
"cds_start": 493,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859409.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KXD1",
"gene_hgnc_id": 28420,
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Arg165Cys",
"transcript": "ENST00000859411.1",
"protein_id": "ENSP00000529470.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 176,
"cds_start": 493,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859411.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KXD1",
"gene_hgnc_id": 28420,
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Arg165Cys",
"transcript": "ENST00000859412.1",
"protein_id": "ENSP00000529471.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 176,
"cds_start": 493,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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"splice_prediction_selected": "Benign",
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{
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],
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{
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],
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"effects": [
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],
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},
{
"score": -6,
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"BS2"
],
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],
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}