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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: 4-108625149-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=108625149&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "RPL34",
"hgnc_id": 10340,
"hgvs_c": "c.291C>T",
"hgvs_p": "p.Ile97Ile",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_000995.5",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000305337",
"hgnc_id": null,
"hgvs_c": "n.108G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000810506.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate,BP7",
"acmg_score": -3,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.35,
"chr": "4",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.3499999940395355,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 117,
"aa_ref": "I",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 546,
"cdna_start": 325,
"cds_end": null,
"cds_length": 354,
"cds_start": 291,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001319236.2",
"gene_hgnc_id": 10340,
"gene_symbol": "RPL34",
"hgvs_c": "c.291C>T",
"hgvs_p": "p.Ile97Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000394667.8",
"protein_coding": true,
"protein_id": "NP_001306165.1",
"strand": true,
"transcript": "NM_001319236.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 117,
"aa_ref": "I",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 546,
"cdna_start": 325,
"cds_end": null,
"cds_length": 354,
"cds_start": 291,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000394667.8",
"gene_hgnc_id": 10340,
"gene_symbol": "RPL34",
"hgvs_c": "c.291C>T",
"hgvs_p": "p.Ile97Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001319236.2",
"protein_coding": true,
"protein_id": "ENSP00000378162.3",
"strand": true,
"transcript": "ENST00000394667.8",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 117,
"aa_ref": "I",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 925,
"cdna_start": 357,
"cds_end": null,
"cds_length": 354,
"cds_start": 291,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000394668.3",
"gene_hgnc_id": 10340,
"gene_symbol": "RPL34",
"hgvs_c": "c.291C>T",
"hgvs_p": "p.Ile97Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378163.2",
"strand": true,
"transcript": "ENST00000394668.3",
"transcript_support_level": 1
},
{
"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": 629,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000504231.1",
"gene_hgnc_id": 10340,
"gene_symbol": "RPL34",
"hgvs_c": "n.598C>T",
"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": "ENST00000504231.1",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 146,
"aa_ref": "I",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 515,
"cdna_start": 411,
"cds_end": null,
"cds_length": 441,
"cds_start": 378,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000926079.1",
"gene_hgnc_id": 10340,
"gene_symbol": "RPL34",
"hgvs_c": "c.378C>T",
"hgvs_p": "p.Ile126Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596138.1",
"strand": true,
"transcript": "ENST00000926079.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 128,
"aa_ref": "I",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 461,
"cdna_start": 357,
"cds_end": null,
"cds_length": 387,
"cds_start": 324,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000926076.1",
"gene_hgnc_id": 10340,
"gene_symbol": "RPL34",
"hgvs_c": "c.324C>T",
"hgvs_p": "p.Ile108Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596135.1",
"strand": true,
"transcript": "ENST00000926076.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 117,
"aa_ref": "I",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 893,
"cdna_start": 325,
"cds_end": null,
"cds_length": 354,
"cds_start": 291,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_000995.5",
"gene_hgnc_id": 10340,
"gene_symbol": "RPL34",
"hgvs_c": "c.291C>T",
"hgvs_p": "p.Ile97Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000986.2",
"strand": true,
"transcript": "NM_000995.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 117,
"aa_ref": "I",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 724,
"cdna_start": 503,
"cds_end": null,
"cds_length": 354,
"cds_start": 291,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001319232.2",
"gene_hgnc_id": 10340,
"gene_symbol": "RPL34",
"hgvs_c": "c.291C>T",
"hgvs_p": "p.Ile97Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001306161.1",
"strand": true,
"transcript": "NM_001319232.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 117,
"aa_ref": "I",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 694,
"cdna_start": 473,
"cds_end": null,
"cds_length": 354,
"cds_start": 291,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001319234.1",
"gene_hgnc_id": 10340,
"gene_symbol": "RPL34",
"hgvs_c": "c.291C>T",
"hgvs_p": "p.Ile97Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001306163.1",
"strand": true,
"transcript": "NM_001319234.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 117,
"aa_ref": "I",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 658,
"cdna_start": 437,
"cds_end": null,
"cds_length": 354,
"cds_start": 291,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001319235.2",
"gene_hgnc_id": 10340,
"gene_symbol": "RPL34",
"hgvs_c": "c.291C>T",
"hgvs_p": "p.Ile97Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001306164.1",
"strand": true,
"transcript": "NM_001319235.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 117,
"aa_ref": "I",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1005,
"cdna_start": 437,
"cds_end": null,
"cds_length": 354,
"cds_start": 291,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_033625.4",
"gene_hgnc_id": 10340,
"gene_symbol": "RPL34",
"hgvs_c": "c.291C>T",
"hgvs_p": "p.Ile97Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_296374.1",
"strand": true,
"transcript": "NM_033625.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 117,
"aa_ref": "I",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 529,
"cdna_start": 423,
"cds_end": null,
"cds_length": 354,
"cds_start": 291,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000394665.5",
"gene_hgnc_id": 10340,
"gene_symbol": "RPL34",
"hgvs_c": "c.291C>T",
"hgvs_p": "p.Ile97Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378160.1",
"strand": true,
"transcript": "ENST00000394665.5",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 117,
"aa_ref": "I",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 560,
"cdna_start": 332,
"cds_end": null,
"cds_length": 354,
"cds_start": 291,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000502534.5",
"gene_hgnc_id": 10340,
"gene_symbol": "RPL34",
"hgvs_c": "c.291C>T",
"hgvs_p": "p.Ile97Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423983.1",
"strand": true,
"transcript": "ENST00000502534.5",
"transcript_support_level": 4
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 117,
"aa_ref": "I",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 549,
"cdna_start": 446,
"cds_end": null,
"cds_length": 354,
"cds_start": 291,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000506397.5",
"gene_hgnc_id": 10340,
"gene_symbol": "RPL34",
"hgvs_c": "c.291C>T",
"hgvs_p": "p.Ile97Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423316.1",
"strand": true,
"transcript": "ENST00000506397.5",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 117,
"aa_ref": "I",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3363,
"cdna_start": 393,
"cds_end": null,
"cds_length": 354,
"cds_start": 291,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000853717.1",
"gene_hgnc_id": 10340,
"gene_symbol": "RPL34",
"hgvs_c": "c.291C>T",
"hgvs_p": "p.Ile97Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523776.1",
"strand": true,
"transcript": "ENST00000853717.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 117,
"aa_ref": "I",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1074,
"cdna_start": 509,
"cds_end": null,
"cds_length": 354,
"cds_start": 291,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000853718.1",
"gene_hgnc_id": 10340,
"gene_symbol": "RPL34",
"hgvs_c": "c.291C>T",
"hgvs_p": "p.Ile97Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523777.1",
"strand": true,
"transcript": "ENST00000853718.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 117,
"aa_ref": "I",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 757,
"cdna_start": 653,
"cds_end": null,
"cds_length": 354,
"cds_start": 291,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000853719.1",
"gene_hgnc_id": 10340,
"gene_symbol": "RPL34",
"hgvs_c": "c.291C>T",
"hgvs_p": "p.Ile97Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523778.1",
"strand": true,
"transcript": "ENST00000853719.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 117,
"aa_ref": "I",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 721,
"cdna_start": 617,
"cds_end": null,
"cds_length": 354,
"cds_start": 291,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000853720.1",
"gene_hgnc_id": 10340,
"gene_symbol": "RPL34",
"hgvs_c": "c.291C>T",
"hgvs_p": "p.Ile97Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523779.1",
"strand": true,
"transcript": "ENST00000853720.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 117,
"aa_ref": "I",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 492,
"cdna_start": 408,
"cds_end": null,
"cds_length": 354,
"cds_start": 291,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000853721.1",
"gene_hgnc_id": 10340,
"gene_symbol": "RPL34",
"hgvs_c": "c.291C>T",
"hgvs_p": "p.Ile97Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523780.1",
"strand": true,
"transcript": "ENST00000853721.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 117,
"aa_ref": "I",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 847,
"cdna_start": 324,
"cds_end": null,
"cds_length": 354,
"cds_start": 291,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000926072.1",
"gene_hgnc_id": 10340,
"gene_symbol": "RPL34",
"hgvs_c": "c.291C>T",
"hgvs_p": "p.Ile97Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596131.1",
"strand": true,
"transcript": "ENST00000926072.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 117,
"aa_ref": "I",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 750,
"cdna_start": 324,
"cds_end": null,
"cds_length": 354,
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