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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: 19-49449562-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=49449562&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PIH1D1",
"hgnc_id": 26075,
"hgvs_c": "c.250G>A",
"hgvs_p": "p.Glu84Lys",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_017916.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 20,
"alphamissense_prediction": null,
"alphamissense_score": 0.1261,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"chr": "19",
"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": 0.1594182550907135,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 290,
"aa_ref": "E",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1197,
"cdna_start": 490,
"cds_end": null,
"cds_length": 873,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_017916.3",
"gene_hgnc_id": 26075,
"gene_symbol": "PIH1D1",
"hgvs_c": "c.250G>A",
"hgvs_p": "p.Glu84Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000262265.10",
"protein_coding": true,
"protein_id": "NP_060386.1",
"strand": false,
"transcript": "NM_017916.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 290,
"aa_ref": "E",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1197,
"cdna_start": 490,
"cds_end": null,
"cds_length": 873,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000262265.10",
"gene_hgnc_id": 26075,
"gene_symbol": "PIH1D1",
"hgvs_c": "c.250G>A",
"hgvs_p": "p.Glu84Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017916.3",
"protein_coding": true,
"protein_id": "ENSP00000262265.4",
"strand": false,
"transcript": "ENST00000262265.10",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 325,
"aa_ref": "E",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1323,
"cdna_start": 512,
"cds_end": null,
"cds_length": 978,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000943281.1",
"gene_hgnc_id": 26075,
"gene_symbol": "PIH1D1",
"hgvs_c": "c.250G>A",
"hgvs_p": "p.Glu84Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613340.1",
"strand": false,
"transcript": "ENST00000943281.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 307,
"aa_ref": "E",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1347,
"cdna_start": 589,
"cds_end": null,
"cds_length": 924,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000911068.1",
"gene_hgnc_id": 26075,
"gene_symbol": "PIH1D1",
"hgvs_c": "c.250G>A",
"hgvs_p": "p.Glu84Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581127.1",
"strand": false,
"transcript": "ENST00000911068.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 290,
"aa_ref": "E",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 992,
"cdna_start": 356,
"cds_end": null,
"cds_length": 873,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000596049.5",
"gene_hgnc_id": 26075,
"gene_symbol": "PIH1D1",
"hgvs_c": "c.250G>A",
"hgvs_p": "p.Glu84Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000470445.1",
"strand": false,
"transcript": "ENST00000596049.5",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 290,
"aa_ref": "E",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1119,
"cdna_start": 412,
"cds_end": null,
"cds_length": 873,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000911064.1",
"gene_hgnc_id": 26075,
"gene_symbol": "PIH1D1",
"hgvs_c": "c.250G>A",
"hgvs_p": "p.Glu84Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581123.1",
"strand": false,
"transcript": "ENST00000911064.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 290,
"aa_ref": "E",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1100,
"cdna_start": 386,
"cds_end": null,
"cds_length": 873,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000911065.1",
"gene_hgnc_id": 26075,
"gene_symbol": "PIH1D1",
"hgvs_c": "c.250G>A",
"hgvs_p": "p.Glu84Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581124.1",
"strand": false,
"transcript": "ENST00000911065.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 290,
"aa_ref": "E",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1187,
"cdna_start": 480,
"cds_end": null,
"cds_length": 873,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000911066.1",
"gene_hgnc_id": 26075,
"gene_symbol": "PIH1D1",
"hgvs_c": "c.250G>A",
"hgvs_p": "p.Glu84Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581125.1",
"strand": false,
"transcript": "ENST00000911066.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 290,
"aa_ref": "E",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1200,
"cdna_start": 493,
"cds_end": null,
"cds_length": 873,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000911067.1",
"gene_hgnc_id": 26075,
"gene_symbol": "PIH1D1",
"hgvs_c": "c.250G>A",
"hgvs_p": "p.Glu84Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581126.1",
"strand": false,
"transcript": "ENST00000911067.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 289,
"aa_ref": "E",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1212,
"cdna_start": 508,
"cds_end": null,
"cds_length": 870,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000911069.1",
"gene_hgnc_id": 26075,
"gene_symbol": "PIH1D1",
"hgvs_c": "c.250G>A",
"hgvs_p": "p.Glu84Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581128.1",
"strand": false,
"transcript": "ENST00000911069.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 279,
"aa_ref": "E",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1166,
"cdna_start": 493,
"cds_end": null,
"cds_length": 840,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000911071.1",
"gene_hgnc_id": 26075,
"gene_symbol": "PIH1D1",
"hgvs_c": "c.250G>A",
"hgvs_p": "p.Glu84Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581130.1",
"strand": false,
"transcript": "ENST00000911071.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 272,
"aa_ref": "E",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 998,
"cdna_start": 394,
"cds_end": null,
"cds_length": 821,
"cds_start": 217,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000601807.5",
"gene_hgnc_id": 26075,
"gene_symbol": "PIH1D1",
"hgvs_c": "c.217G>A",
"hgvs_p": "p.Glu73Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000469693.1",
"strand": false,
"transcript": "ENST00000601807.5",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 235,
"aa_ref": "E",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 833,
"cdna_start": 374,
"cds_end": null,
"cds_length": 709,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000599366.5",
"gene_hgnc_id": 26075,
"gene_symbol": "PIH1D1",
"hgvs_c": "c.250G>A",
"hgvs_p": "p.Glu84Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000469087.1",
"strand": false,
"transcript": "ENST00000599366.5",
"transcript_support_level": 3
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 182,
"aa_ref": "E",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 633,
"cdna_start": 26,
"cds_end": null,
"cds_length": 549,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000600875.5",
"gene_hgnc_id": 26075,
"gene_symbol": "PIH1D1",
"hgvs_c": "c.25G>A",
"hgvs_p": "p.Glu9Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000473095.1",
"strand": false,
"transcript": "ENST00000600875.5",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 163,
"aa_ref": "E",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 874,
"cdna_start": 599,
"cds_end": null,
"cds_length": 492,
"cds_start": 217,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000597415.5",
"gene_hgnc_id": 26075,
"gene_symbol": "PIH1D1",
"hgvs_c": "c.217G>A",
"hgvs_p": "p.Glu73Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000469793.1",
"strand": false,
"transcript": "ENST00000597415.5",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 233,
"aa_ref": "E",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1066,
"cdna_start": 490,
"cds_end": null,
"cds_length": 702,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047439024.1",
"gene_hgnc_id": 26075,
"gene_symbol": "PIH1D1",
"hgvs_c": "c.250G>A",
"hgvs_p": "p.Glu84Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294980.1",
"strand": false,
"transcript": "XM_047439024.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 180,
"aa_ref": "G",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 850,
"cdna_start": 581,
"cds_end": null,
"cds_length": 543,
"cds_start": 341,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047439025.1",
"gene_hgnc_id": 26075,
"gene_symbol": "PIH1D1",
"hgvs_c": "c.341G>A",
"hgvs_p": "p.Gly114Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294981.1",
"strand": false,
"transcript": "XM_047439025.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 163,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 738,
"cdna_start": null,
"cds_end": null,
"cds_length": 492,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_024451570.2",
"gene_hgnc_id": 26075,
"gene_symbol": "PIH1D1",
"hgvs_c": "c.-70G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024307338.1",
"strand": false,
"transcript": "XM_024451570.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 230,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1034,
"cdna_start": null,
"cds_end": null,
"cds_length": 693,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000911070.1",
"gene_hgnc_id": 26075,
"gene_symbol": "PIH1D1",
"hgvs_c": "c.157+1220G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581129.1",
"strand": false,
"transcript": "ENST00000911070.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 211,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 954,
"cdna_start": null,
"cds_end": null,
"cds_length": 636,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000919081.1",
"gene_hgnc_id": 26075,
"gene_symbol": "PIH1D1",
"hgvs_c": "c.162+1306G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589140.1",
"strand": false,
"transcript": "ENST00000919081.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 932,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000593900.5",
"gene_hgnc_id": 26075,
"gene_symbol": "PIH1D1",
"hgvs_c": "n.584G>A",
"hgvs_p": null,
"intron_rank": null,
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