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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: 10-46549856-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=46549856&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GPRIN2",
"hgnc_id": 23730,
"hgvs_c": "c.953C>T",
"hgvs_p": "p.Ala318Val",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_001385287.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 186,
"alphamissense_prediction": null,
"alphamissense_score": 0.1289,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.32,
"chr": "10",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.08003789186477661,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 458,
"aa_ref": "A",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9279,
"cdna_start": 1159,
"cds_end": null,
"cds_length": 1377,
"cds_start": 881,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001385282.1",
"gene_hgnc_id": 23730,
"gene_symbol": "GPRIN2",
"hgvs_c": "c.881C>T",
"hgvs_p": "p.Ala294Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000374314.6",
"protein_coding": true,
"protein_id": "NP_001372211.1",
"strand": false,
"transcript": "NM_001385282.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 458,
"aa_ref": "A",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9279,
"cdna_start": 1159,
"cds_end": null,
"cds_length": 1377,
"cds_start": 881,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000374314.6",
"gene_hgnc_id": 23730,
"gene_symbol": "GPRIN2",
"hgvs_c": "c.881C>T",
"hgvs_p": "p.Ala294Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001385282.1",
"protein_coding": true,
"protein_id": "ENSP00000363433.4",
"strand": false,
"transcript": "ENST00000374314.6",
"transcript_support_level": 6
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 482,
"aa_ref": "A",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9407,
"cdna_start": 1287,
"cds_end": null,
"cds_length": 1449,
"cds_start": 953,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001385287.1",
"gene_hgnc_id": 23730,
"gene_symbol": "GPRIN2",
"hgvs_c": "c.953C>T",
"hgvs_p": "p.Ala318Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372216.1",
"strand": false,
"transcript": "NM_001385287.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 482,
"aa_ref": "A",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9355,
"cdna_start": 1235,
"cds_end": null,
"cds_length": 1449,
"cds_start": 953,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001385289.1",
"gene_hgnc_id": 23730,
"gene_symbol": "GPRIN2",
"hgvs_c": "c.953C>T",
"hgvs_p": "p.Ala318Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372218.1",
"strand": false,
"transcript": "NM_001385289.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 482,
"aa_ref": "A",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9436,
"cdna_start": 1316,
"cds_end": null,
"cds_length": 1449,
"cds_start": 953,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001385291.1",
"gene_hgnc_id": 23730,
"gene_symbol": "GPRIN2",
"hgvs_c": "c.953C>T",
"hgvs_p": "p.Ala318Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372220.1",
"strand": false,
"transcript": "NM_001385291.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 482,
"aa_ref": "A",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9472,
"cdna_start": 1352,
"cds_end": null,
"cds_length": 1449,
"cds_start": 953,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001385293.1",
"gene_hgnc_id": 23730,
"gene_symbol": "GPRIN2",
"hgvs_c": "c.953C>T",
"hgvs_p": "p.Ala318Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372222.1",
"strand": false,
"transcript": "NM_001385293.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 482,
"aa_ref": "A",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9480,
"cdna_start": 1360,
"cds_end": null,
"cds_length": 1449,
"cds_start": 953,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001385294.1",
"gene_hgnc_id": 23730,
"gene_symbol": "GPRIN2",
"hgvs_c": "c.953C>T",
"hgvs_p": "p.Ala318Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372223.1",
"strand": false,
"transcript": "NM_001385294.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 482,
"aa_ref": "A",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9488,
"cdna_start": 1368,
"cds_end": null,
"cds_length": 1449,
"cds_start": 953,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001385295.1",
"gene_hgnc_id": 23730,
"gene_symbol": "GPRIN2",
"hgvs_c": "c.953C>T",
"hgvs_p": "p.Ala318Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372224.1",
"strand": false,
"transcript": "NM_001385295.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 482,
"aa_ref": "A",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9516,
"cdna_start": 1396,
"cds_end": null,
"cds_length": 1449,
"cds_start": 953,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001385296.1",
"gene_hgnc_id": 23730,
"gene_symbol": "GPRIN2",
"hgvs_c": "c.953C>T",
"hgvs_p": "p.Ala318Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372225.1",
"strand": false,
"transcript": "NM_001385296.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 482,
"aa_ref": "A",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9596,
"cdna_start": 1476,
"cds_end": null,
"cds_length": 1449,
"cds_start": 953,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001385297.1",
"gene_hgnc_id": 23730,
"gene_symbol": "GPRIN2",
"hgvs_c": "c.953C>T",
"hgvs_p": "p.Ala318Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372226.1",
"strand": false,
"transcript": "NM_001385297.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 482,
"aa_ref": "A",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9673,
"cdna_start": 1553,
"cds_end": null,
"cds_length": 1449,
"cds_start": 953,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001385298.1",
"gene_hgnc_id": 23730,
"gene_symbol": "GPRIN2",
"hgvs_c": "c.953C>T",
"hgvs_p": "p.Ala318Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372227.1",
"strand": false,
"transcript": "NM_001385298.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 482,
"aa_ref": "A",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9709,
"cdna_start": 1589,
"cds_end": null,
"cds_length": 1449,
"cds_start": 953,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001385299.1",
"gene_hgnc_id": 23730,
"gene_symbol": "GPRIN2",
"hgvs_c": "c.953C>T",
"hgvs_p": "p.Ala318Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372228.1",
"strand": false,
"transcript": "NM_001385299.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 482,
"aa_ref": "A",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9401,
"cdna_start": 1281,
"cds_end": null,
"cds_length": 1449,
"cds_start": 953,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001385300.1",
"gene_hgnc_id": 23730,
"gene_symbol": "GPRIN2",
"hgvs_c": "c.953C>T",
"hgvs_p": "p.Ala318Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372229.1",
"strand": false,
"transcript": "NM_001385300.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 482,
"aa_ref": "A",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9556,
"cdna_start": 1436,
"cds_end": null,
"cds_length": 1449,
"cds_start": 953,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001385301.1",
"gene_hgnc_id": 23730,
"gene_symbol": "GPRIN2",
"hgvs_c": "c.953C>T",
"hgvs_p": "p.Ala318Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372230.1",
"strand": false,
"transcript": "NM_001385301.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 482,
"aa_ref": "A",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9603,
"cdna_start": 1483,
"cds_end": null,
"cds_length": 1449,
"cds_start": 953,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001394742.1",
"gene_hgnc_id": 23730,
"gene_symbol": "GPRIN2",
"hgvs_c": "c.953C>T",
"hgvs_p": "p.Ala318Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381671.1",
"strand": false,
"transcript": "NM_001394742.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 482,
"aa_ref": "A",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9619,
"cdna_start": 1499,
"cds_end": null,
"cds_length": 1449,
"cds_start": 953,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001394743.1",
"gene_hgnc_id": 23730,
"gene_symbol": "GPRIN2",
"hgvs_c": "c.953C>T",
"hgvs_p": "p.Ala318Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381672.1",
"strand": false,
"transcript": "NM_001394743.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 482,
"aa_ref": "A",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9796,
"cdna_start": 1676,
"cds_end": null,
"cds_length": 1449,
"cds_start": 953,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001394744.1",
"gene_hgnc_id": 23730,
"gene_symbol": "GPRIN2",
"hgvs_c": "c.953C>T",
"hgvs_p": "p.Ala318Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381673.1",
"strand": false,
"transcript": "NM_001394744.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 458,
"aa_ref": "A",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9195,
"cdna_start": 1075,
"cds_end": null,
"cds_length": 1377,
"cds_start": 881,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001385275.1",
"gene_hgnc_id": 23730,
"gene_symbol": "GPRIN2",
"hgvs_c": "c.881C>T",
"hgvs_p": "p.Ala294Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372204.1",
"strand": false,
"transcript": "NM_001385275.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 458,
"aa_ref": "A",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9211,
"cdna_start": 1091,
"cds_end": null,
"cds_length": 1377,
"cds_start": 881,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001385276.1",
"gene_hgnc_id": 23730,
"gene_symbol": "GPRIN2",
"hgvs_c": "c.881C>T",
"hgvs_p": "p.Ala294Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372205.1",
"strand": false,
"transcript": "NM_001385276.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 458,
"aa_ref": "A",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9286,
"cdna_start": 1166,
"cds_end": null,
"cds_length": 1377,
"cds_start": 881,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001385277.1",
"gene_hgnc_id": 23730,
"gene_symbol": "GPRIN2",
"hgvs_c": "c.881C>T",
"hgvs_p": "p.Ala294Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372206.1",
"strand": false,
"transcript": "NM_001385277.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 458,
"aa_ref": "A",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9314,
"cdna_start": 1194,
"cds_end": null,
"cds_length": 1377,
"cds_start": 881,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001385278.1",
"gene_hgnc_id": 23730,
"gene_symbol": "GPRIN2",
"hgvs_c": "c.881C>T",
"hgvs_p": "p.Ala294Val",
"intron_rank": null,
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