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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: 10-46549424-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=46549424&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 46549424,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001385287.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRIN2",
"gene_hgnc_id": 23730,
"hgvs_c": "c.1313G>A",
"hgvs_p": "p.Arg438Gln",
"transcript": "NM_001385282.1",
"protein_id": "NP_001372211.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 458,
"cds_start": 1313,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374314.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385282.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRIN2",
"gene_hgnc_id": 23730,
"hgvs_c": "c.1313G>A",
"hgvs_p": "p.Arg438Gln",
"transcript": "ENST00000374314.6",
"protein_id": "ENSP00000363433.4",
"transcript_support_level": 6,
"aa_start": 438,
"aa_end": null,
"aa_length": 458,
"cds_start": 1313,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001385282.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374314.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "GPRIN2",
"gene_hgnc_id": 23730,
"hgvs_c": "c.1385G>A",
"hgvs_p": "p.Arg462Gln",
"transcript": "NM_001385287.1",
"protein_id": "NP_001372216.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 482,
"cds_start": 1385,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385287.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "GPRIN2",
"gene_hgnc_id": 23730,
"hgvs_c": "c.1385G>A",
"hgvs_p": "p.Arg462Gln",
"transcript": "NM_001385289.1",
"protein_id": "NP_001372218.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 482,
"cds_start": 1385,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385289.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRIN2",
"gene_hgnc_id": 23730,
"hgvs_c": "c.1385G>A",
"hgvs_p": "p.Arg462Gln",
"transcript": "NM_001385291.1",
"protein_id": "NP_001372220.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 482,
"cds_start": 1385,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385291.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRIN2",
"gene_hgnc_id": 23730,
"hgvs_c": "c.1385G>A",
"hgvs_p": "p.Arg462Gln",
"transcript": "NM_001385293.1",
"protein_id": "NP_001372222.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 482,
"cds_start": 1385,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385293.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRIN2",
"gene_hgnc_id": 23730,
"hgvs_c": "c.1385G>A",
"hgvs_p": "p.Arg462Gln",
"transcript": "NM_001385294.1",
"protein_id": "NP_001372223.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 482,
"cds_start": 1385,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385294.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRIN2",
"gene_hgnc_id": 23730,
"hgvs_c": "c.1385G>A",
"hgvs_p": "p.Arg462Gln",
"transcript": "NM_001385295.1",
"protein_id": "NP_001372224.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 482,
"cds_start": 1385,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385295.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRIN2",
"gene_hgnc_id": 23730,
"hgvs_c": "c.1385G>A",
"hgvs_p": "p.Arg462Gln",
"transcript": "NM_001385296.1",
"protein_id": "NP_001372225.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 482,
"cds_start": 1385,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385296.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRIN2",
"gene_hgnc_id": 23730,
"hgvs_c": "c.1385G>A",
"hgvs_p": "p.Arg462Gln",
"transcript": "NM_001385297.1",
"protein_id": "NP_001372226.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 482,
"cds_start": 1385,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385297.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRIN2",
"gene_hgnc_id": 23730,
"hgvs_c": "c.1385G>A",
"hgvs_p": "p.Arg462Gln",
"transcript": "NM_001385298.1",
"protein_id": "NP_001372227.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 482,
"cds_start": 1385,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385298.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRIN2",
"gene_hgnc_id": 23730,
"hgvs_c": "c.1385G>A",
"hgvs_p": "p.Arg462Gln",
"transcript": "NM_001385299.1",
"protein_id": "NP_001372228.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 482,
"cds_start": 1385,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385299.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "GPRIN2",
"gene_hgnc_id": 23730,
"hgvs_c": "c.1385G>A",
"hgvs_p": "p.Arg462Gln",
"transcript": "NM_001385300.1",
"protein_id": "NP_001372229.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 482,
"cds_start": 1385,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385300.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRIN2",
"gene_hgnc_id": 23730,
"hgvs_c": "c.1385G>A",
"hgvs_p": "p.Arg462Gln",
"transcript": "NM_001385301.1",
"protein_id": "NP_001372230.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 482,
"cds_start": 1385,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385301.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "GPRIN2",
"gene_hgnc_id": 23730,
"hgvs_c": "c.1385G>A",
"hgvs_p": "p.Arg462Gln",
"transcript": "NM_001394742.1",
"protein_id": "NP_001381671.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 482,
"cds_start": 1385,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394742.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "GPRIN2",
"gene_hgnc_id": 23730,
"hgvs_c": "c.1385G>A",
"hgvs_p": "p.Arg462Gln",
"transcript": "NM_001394743.1",
"protein_id": "NP_001381672.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 482,
"cds_start": 1385,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394743.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRIN2",
"gene_hgnc_id": 23730,
"hgvs_c": "c.1385G>A",
"hgvs_p": "p.Arg462Gln",
"transcript": "NM_001394744.1",
"protein_id": "NP_001381673.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 482,
"cds_start": 1385,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394744.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRIN2",
"gene_hgnc_id": 23730,
"hgvs_c": "c.1313G>A",
"hgvs_p": "p.Arg438Gln",
"transcript": "NM_001385275.1",
"protein_id": "NP_001372204.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 458,
"cds_start": 1313,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385275.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRIN2",
"gene_hgnc_id": 23730,
"hgvs_c": "c.1313G>A",
"hgvs_p": "p.Arg438Gln",
"transcript": "NM_001385276.1",
"protein_id": "NP_001372205.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 458,
"cds_start": 1313,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385276.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "GPRIN2",
"gene_hgnc_id": 23730,
"hgvs_c": "c.1313G>A",
"hgvs_p": "p.Arg438Gln",
"transcript": "NM_001385277.1",
"protein_id": "NP_001372206.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 458,
"cds_start": 1313,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385277.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "GPRIN2",
"gene_hgnc_id": 23730,
"hgvs_c": "c.1313G>A",
"hgvs_p": "p.Arg438Gln",
"transcript": "NM_001385278.1",
"protein_id": "NP_001372207.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 458,
"cds_start": 1313,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385278.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "GPRIN2",
"gene_hgnc_id": 23730,
"hgvs_c": "c.1313G>A",
"hgvs_p": "p.Arg438Gln",
"transcript": "NM_001385279.1",
"protein_id": "NP_001372208.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 458,
"cds_start": 1313,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": 0.09,
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{
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"verdict": "Likely_benign",
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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
}