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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: 1-15345488-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=15345488&ref=C&alt=G&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": "FHAD1",
"hgnc_id": 29408,
"hgvs_c": "c.2311C>G",
"hgvs_p": "p.Gln771Glu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001391957.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "EFHD2-AS1",
"hgnc_id": 55801,
"hgvs_c": "n.346-20992G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000774218.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.0893,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.51,
"chr": "1",
"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": 0.08279356360435486,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1479,
"aa_ref": "Q",
"aa_start": 771,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5542,
"cdna_start": 2498,
"cds_end": null,
"cds_length": 4440,
"cds_start": 2311,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001391957.1",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.2311C>G",
"hgvs_p": "p.Gln771Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000688493.1",
"protein_coding": true,
"protein_id": "NP_001378886.1",
"strand": true,
"transcript": "NM_001391957.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1479,
"aa_ref": "Q",
"aa_start": 771,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5542,
"cdna_start": 2498,
"cds_end": null,
"cds_length": 4440,
"cds_start": 2311,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000688493.1",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.2311C>G",
"hgvs_p": "p.Gln771Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001391957.1",
"protein_coding": true,
"protein_id": "ENSP00000509124.1",
"strand": true,
"transcript": "ENST00000688493.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3258,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000471347.5",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "n.782C>G",
"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": "ENST00000471347.5",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1479,
"aa_ref": "Q",
"aa_start": 771,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5610,
"cdna_start": 2566,
"cds_end": null,
"cds_length": 4440,
"cds_start": 2311,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000683790.1",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.2311C>G",
"hgvs_p": "p.Gln771Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506973.1",
"strand": true,
"transcript": "ENST00000683790.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1433,
"aa_ref": "Q",
"aa_start": 771,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5319,
"cdna_start": 2464,
"cds_end": null,
"cds_length": 4302,
"cds_start": 2311,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000968213.1",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.2311C>G",
"hgvs_p": "p.Gln771Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638272.1",
"strand": true,
"transcript": "ENST00000968213.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1412,
"aa_ref": "Q",
"aa_start": 749,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5138,
"cdna_start": 2430,
"cds_end": null,
"cds_length": 4239,
"cds_start": 2245,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_052929.2",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.2245C>G",
"hgvs_p": "p.Gln749Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_443161.1",
"strand": true,
"transcript": "NM_052929.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1412,
"aa_ref": "Q",
"aa_start": 749,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5090,
"cdna_start": 2383,
"cds_end": null,
"cds_length": 4239,
"cds_start": 2245,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000358897.8",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.2245C>G",
"hgvs_p": "p.Gln749Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000351770.4",
"strand": true,
"transcript": "ENST00000358897.8",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1412,
"aa_ref": "Q",
"aa_start": 749,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4355,
"cdna_start": 2245,
"cds_end": null,
"cds_length": 4239,
"cds_start": 2245,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000375998.8",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.2245C>G",
"hgvs_p": "p.Gln749Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000365166.4",
"strand": true,
"transcript": "ENST00000375998.8",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1397,
"aa_ref": "Q",
"aa_start": 771,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4438,
"cdna_start": 2438,
"cds_end": null,
"cds_length": 4194,
"cds_start": 2311,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000940095.1",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.2311C>G",
"hgvs_p": "p.Gln771Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610154.1",
"strand": true,
"transcript": "ENST00000940095.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 701,
"aa_ref": "Q",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2434,
"cdna_start": 166,
"cds_end": null,
"cds_length": 2106,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000529606.5",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.166C>G",
"hgvs_p": "p.Gln56Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434909.1",
"strand": true,
"transcript": "ENST00000529606.5",
"transcript_support_level": 2
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 692,
"aa_ref": "Q",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3481,
"cdna_start": 309,
"cds_end": null,
"cds_length": 2079,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000444385.5",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.307C>G",
"hgvs_p": "p.Gln103Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000399819.1",
"strand": true,
"transcript": "ENST00000444385.5",
"transcript_support_level": 2
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 647,
"aa_ref": "Q",
"aa_start": 20,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2657,
"cdna_start": 58,
"cds_end": null,
"cds_length": 1944,
"cds_start": 58,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000314668.13",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.58C>G",
"hgvs_p": "p.Gln20Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000318812.9",
"strand": true,
"transcript": "ENST00000314668.13",
"transcript_support_level": 2
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1531,
"aa_ref": "Q",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5185,
"cdna_start": 2566,
"cds_end": null,
"cds_length": 4596,
"cds_start": 2362,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_017000198.3",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.2362C>G",
"hgvs_p": "p.Gln788Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016855687.1",
"strand": true,
"transcript": "XM_017000198.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1531,
"aa_ref": "Q",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5042,
"cdna_start": 2566,
"cds_end": null,
"cds_length": 4596,
"cds_start": 2362,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_017000199.3",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.2362C>G",
"hgvs_p": "p.Gln788Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016855688.1",
"strand": true,
"transcript": "XM_017000199.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1530,
"aa_ref": "Q",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5182,
"cdna_start": 2566,
"cds_end": null,
"cds_length": 4593,
"cds_start": 2362,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_011540576.3",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.2362C>G",
"hgvs_p": "p.Gln788Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011538878.1",
"strand": true,
"transcript": "XM_011540576.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1514,
"aa_ref": "Q",
"aa_start": 771,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5117,
"cdna_start": 2498,
"cds_end": null,
"cds_length": 4545,
"cds_start": 2311,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_011540577.3",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.2311C>G",
"hgvs_p": "p.Gln771Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011538879.1",
"strand": true,
"transcript": "XM_011540577.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1513,
"aa_ref": "Q",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5131,
"cdna_start": 2566,
"cds_end": null,
"cds_length": 4542,
"cds_start": 2362,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_017000200.2",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.2362C>G",
"hgvs_p": "p.Gln788Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016855689.1",
"strand": true,
"transcript": "XM_017000200.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1508,
"aa_ref": "Q",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5116,
"cdna_start": 2566,
"cds_end": null,
"cds_length": 4527,
"cds_start": 2362,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_017000201.2",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.2362C>G",
"hgvs_p": "p.Gln788Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016855690.1",
"strand": true,
"transcript": "XM_017000201.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1496,
"aa_ref": "Q",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5061,
"cdna_start": 2566,
"cds_end": null,
"cds_length": 4491,
"cds_start": 2362,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_011540581.4",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.2362C>G",
"hgvs_p": "p.Gln788Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011538883.1",
"strand": true,
"transcript": "XM_011540581.4",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1496,
"aa_ref": "Q",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4918,
"cdna_start": 2566,
"cds_end": null,
"cds_length": 4491,
"cds_start": 2362,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_011540582.4",
"gene_hgnc_id": 29408,
"gene_symbol": "FHAD1",
"hgvs_c": "c.2362C>G",
"hgvs_p": "p.Gln788Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011538884.1",
"strand": true,
"transcript": "XM_011540582.4",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1496,
"aa_ref": "Q",
"aa_start": 788,
"biotype": "protein_coding",
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