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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: 7-42932391-CG-TC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=42932391&ref=CG&alt=TC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "MRPL32",
"hgnc_id": 14035,
"hgvs_c": "c.5_6delCGinsTC",
"hgvs_p": "p.Ala2Val",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_031903.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "PSMA2",
"hgnc_id": 9531,
"hgvs_c": "c.-234_-233delCGinsGA",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_002787.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "ENSG00000256646",
"hgnc_id": null,
"hgvs_c": "c.-391_-390delCGinsGA",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000677581.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "7",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 188,
"aa_ref": "A",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 859,
"cdna_start": 16,
"cds_end": null,
"cds_length": 567,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_031903.3",
"gene_hgnc_id": 14035,
"gene_symbol": "MRPL32",
"hgvs_c": "c.5_6delCGinsTC",
"hgvs_p": "p.Ala2Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000223324.3",
"protein_coding": true,
"protein_id": "NP_114109.1",
"strand": true,
"transcript": "NM_031903.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 188,
"aa_ref": "A",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 859,
"cdna_start": 16,
"cds_end": null,
"cds_length": 567,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000223324.3",
"gene_hgnc_id": 14035,
"gene_symbol": "MRPL32",
"hgvs_c": "c.5_6delCGinsTC",
"hgvs_p": "p.Ala2Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_031903.3",
"protein_coding": true,
"protein_id": "ENSP00000223324.2",
"strand": true,
"transcript": "ENST00000223324.3",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 186,
"aa_ref": "A",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 848,
"cdna_start": 16,
"cds_end": null,
"cds_length": 561,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000900012.1",
"gene_hgnc_id": 14035,
"gene_symbol": "MRPL32",
"hgvs_c": "c.5_6delCGinsTC",
"hgvs_p": "p.Ala2Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570071.1",
"strand": true,
"transcript": "ENST00000900012.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 186,
"aa_ref": "A",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 883,
"cdna_start": 46,
"cds_end": null,
"cds_length": 561,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000921963.1",
"gene_hgnc_id": 14035,
"gene_symbol": "MRPL32",
"hgvs_c": "c.5_6delCGinsTC",
"hgvs_p": "p.Ala2Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592022.1",
"strand": true,
"transcript": "ENST00000921963.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2734,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000432845.1",
"gene_hgnc_id": 14035,
"gene_symbol": "MRPL32",
"hgvs_c": "n.5_6delCGinsTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000415581.1",
"strand": true,
"transcript": "ENST00000432845.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 937,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NR_156497.1",
"gene_hgnc_id": 14035,
"gene_symbol": "MRPL32",
"hgvs_c": "n.16_17delCGinsTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_156497.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 234,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1434,
"cdna_start": null,
"cds_end": null,
"cds_length": 705,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_002787.5",
"gene_hgnc_id": 9531,
"gene_symbol": "PSMA2",
"hgvs_c": "c.-234_-233delCGinsGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000223321.9",
"protein_coding": true,
"protein_id": "NP_002778.1",
"strand": true,
"transcript": "NM_002787.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 234,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1434,
"cdna_start": null,
"cds_end": null,
"cds_length": 705,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000223321.9",
"gene_hgnc_id": 9531,
"gene_symbol": "PSMA2",
"hgvs_c": "c.-234_-233delCGinsGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002787.5",
"protein_coding": true,
"protein_id": "ENSP00000223321.4",
"strand": true,
"transcript": "ENST00000223321.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 156,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1397,
"cdna_start": null,
"cds_end": null,
"cds_length": 471,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000677581.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000256646",
"hgvs_c": "c.-391_-390delCGinsGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504213.1",
"strand": true,
"transcript": "ENST00000677581.1",
"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": 4251,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000411875.1",
"gene_hgnc_id": 9531,
"gene_symbol": "PSMA2",
"hgvs_c": "n.-220_-219delCGinsGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000411875.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 249,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1474,
"cdna_start": null,
"cds_end": null,
"cds_length": 750,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000877217.1",
"gene_hgnc_id": 9531,
"gene_symbol": "PSMA2",
"hgvs_c": "c.-234_-233delCGinsGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547276.1",
"strand": true,
"transcript": "ENST00000877217.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 242,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 916,
"cdna_start": null,
"cds_end": null,
"cds_length": 729,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000877218.1",
"gene_hgnc_id": 9531,
"gene_symbol": "PSMA2",
"hgvs_c": "c.-234_-233delCGinsGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547277.1",
"strand": true,
"transcript": "ENST00000877218.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 234,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1474,
"cdna_start": null,
"cds_end": null,
"cds_length": 705,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000928887.1",
"gene_hgnc_id": 9531,
"gene_symbol": "PSMA2",
"hgvs_c": "c.-234_-233delCGinsGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598946.1",
"strand": true,
"transcript": "ENST00000928887.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 229,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1471,
"cdna_start": null,
"cds_end": null,
"cds_length": 690,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000928886.1",
"gene_hgnc_id": 9531,
"gene_symbol": "PSMA2",
"hgvs_c": "c.-234_-233delCGinsGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598945.1",
"strand": true,
"transcript": "ENST00000928886.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 227,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1413,
"cdna_start": null,
"cds_end": null,
"cds_length": 684,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000877216.1",
"gene_hgnc_id": 9531,
"gene_symbol": "PSMA2",
"hgvs_c": "c.-234_-233delCGinsGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547275.1",
"strand": true,
"transcript": "ENST00000877216.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 225,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1413,
"cdna_start": null,
"cds_end": null,
"cds_length": 678,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000928889.1",
"gene_hgnc_id": 9531,
"gene_symbol": "PSMA2",
"hgvs_c": "c.-234_-233delCGinsGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598948.1",
"strand": true,
"transcript": "ENST00000928889.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 193,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1305,
"cdna_start": null,
"cds_end": null,
"cds_length": 582,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000967776.1",
"gene_hgnc_id": 9531,
"gene_symbol": "PSMA2",
"hgvs_c": "c.-234_-233delCGinsGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637835.1",
"strand": true,
"transcript": "ENST00000967776.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 164,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 683,
"cdna_start": null,
"cds_end": null,
"cds_length": 495,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000445517.1",
"gene_hgnc_id": 9531,
"gene_symbol": "PSMA2",
"hgvs_c": "c.-234_-233delCGinsGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000404858.1",
"strand": true,
"transcript": "ENST00000445517.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 141,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 601,
"cdna_start": null,
"cds_end": null,
"cds_length": 426,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000877219.1",
"gene_hgnc_id": 9531,
"gene_symbol": "PSMA2",
"hgvs_c": "c.-234_-233delCGinsGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547278.1",
"strand": true,
"transcript": "ENST00000877219.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 123,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1133,
"cdna_start": null,
"cds_end": null,
"cds_length": 372,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000928888.1",
"gene_hgnc_id": 9531,
"gene_symbol": "PSMA2",
"hgvs_c": "c.-234_-233delCGinsGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598947.1",
"strand": true,
"transcript": "ENST00000928888.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 114,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 524,
"cdna_start": null,
"cds_end": null,
"cds_length": 345,
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