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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: 14-65076549-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=65076549&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"BP4",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MAX",
"hgnc_id": 6913,
"hgvs_c": "c.410G>A",
"hgvs_p": "p.Gly137Asp",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -5,
"transcript": "NM_002382.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_score": -5,
"allele_count_reference_population": 39,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.8071,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.47,
"chr": "14",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Hereditary cancer-predisposing syndrome,Hereditary pheochromocytoma-paraganglioma,Pheochromocytoma,Polydactyly-macrocephaly syndrome,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:6",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.35423004627227783,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 160,
"aa_ref": "G",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2010,
"cdna_start": 588,
"cds_end": null,
"cds_length": 483,
"cds_start": 410,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_002382.5",
"gene_hgnc_id": 6913,
"gene_symbol": "MAX",
"hgvs_c": "c.410G>A",
"hgvs_p": "p.Gly137Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000358664.9",
"protein_coding": true,
"protein_id": "NP_002373.3",
"strand": false,
"transcript": "NM_002382.5",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 160,
"aa_ref": "G",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2010,
"cdna_start": 588,
"cds_end": null,
"cds_length": 483,
"cds_start": 410,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000358664.9",
"gene_hgnc_id": 6913,
"gene_symbol": "MAX",
"hgvs_c": "c.410G>A",
"hgvs_p": "p.Gly137Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002382.5",
"protein_coding": true,
"protein_id": "ENSP00000351490.4",
"strand": false,
"transcript": "ENST00000358664.9",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 151,
"aa_ref": "G",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1973,
"cdna_start": 548,
"cds_end": null,
"cds_length": 456,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000358402.8",
"gene_hgnc_id": 6913,
"gene_symbol": "MAX",
"hgvs_c": "c.383G>A",
"hgvs_p": "p.Gly128Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000351175.4",
"strand": false,
"transcript": "ENST00000358402.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 134,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3155,
"cdna_start": null,
"cds_end": null,
"cds_length": 405,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000284165.10",
"gene_hgnc_id": 6913,
"gene_symbol": "MAX",
"hgvs_c": "c.*1254G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000284165.6",
"strand": false,
"transcript": "ENST00000284165.10",
"transcript_support_level": 1
},
{
"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": 2097,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000394606.6",
"gene_hgnc_id": 6913,
"gene_symbol": "MAX",
"hgvs_c": "n.*183G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000378104.2",
"strand": false,
"transcript": "ENST00000394606.6",
"transcript_support_level": 1
},
{
"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": 623,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000553928.5",
"gene_hgnc_id": 6913,
"gene_symbol": "MAX",
"hgvs_c": "n.*199G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000451907.1",
"strand": false,
"transcript": "ENST00000553928.5",
"transcript_support_level": 1
},
{
"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": 2097,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000394606.6",
"gene_hgnc_id": 6913,
"gene_symbol": "MAX",
"hgvs_c": "n.*183G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000378104.2",
"strand": false,
"transcript": "ENST00000394606.6",
"transcript_support_level": 1
},
{
"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": 623,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000553928.5",
"gene_hgnc_id": 6913,
"gene_symbol": "MAX",
"hgvs_c": "n.*199G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000451907.1",
"strand": false,
"transcript": "ENST00000553928.5",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 178,
"aa_ref": "G",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2065,
"cdna_start": 642,
"cds_end": null,
"cds_length": 537,
"cds_start": 464,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000937808.1",
"gene_hgnc_id": 6913,
"gene_symbol": "MAX",
"hgvs_c": "c.464G>A",
"hgvs_p": "p.Gly155Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607867.1",
"strand": false,
"transcript": "ENST00000937808.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 160,
"aa_ref": "G",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1865,
"cdna_start": 443,
"cds_end": null,
"cds_length": 483,
"cds_start": 410,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001407094.1",
"gene_hgnc_id": 6913,
"gene_symbol": "MAX",
"hgvs_c": "c.410G>A",
"hgvs_p": "p.Gly137Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394023.1",
"strand": false,
"transcript": "NM_001407094.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 151,
"aa_ref": "G",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1838,
"cdna_start": 416,
"cds_end": null,
"cds_length": 456,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001407095.1",
"gene_hgnc_id": 6913,
"gene_symbol": "MAX",
"hgvs_c": "c.383G>A",
"hgvs_p": "p.Gly128Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394024.1",
"strand": false,
"transcript": "NM_001407095.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 151,
"aa_ref": "G",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1983,
"cdna_start": 561,
"cds_end": null,
"cds_length": 456,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_145112.3",
"gene_hgnc_id": 6913,
"gene_symbol": "MAX",
"hgvs_c": "c.383G>A",
"hgvs_p": "p.Gly128Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_660087.1",
"strand": false,
"transcript": "NM_145112.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 124,
"aa_ref": "G",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1902,
"cdna_start": 480,
"cds_end": null,
"cds_length": 375,
"cds_start": 302,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001407098.1",
"gene_hgnc_id": 6913,
"gene_symbol": "MAX",
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Gly101Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394027.1",
"strand": false,
"transcript": "NM_001407098.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 124,
"aa_ref": "G",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 765,
"cdna_start": 302,
"cds_end": null,
"cds_length": 375,
"cds_start": 302,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000555419.5",
"gene_hgnc_id": 6913,
"gene_symbol": "MAX",
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Gly101Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452405.1",
"strand": false,
"transcript": "ENST00000555419.5",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 104,
"aa_ref": "G",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1859,
"cdna_start": 438,
"cds_end": null,
"cds_length": 315,
"cds_start": 242,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000937807.1",
"gene_hgnc_id": 6913,
"gene_symbol": "MAX",
"hgvs_c": "c.242G>A",
"hgvs_p": "p.Gly81Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607866.1",
"strand": false,
"transcript": "ENST00000937807.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 97,
"aa_ref": "G",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2095,
"cdna_start": 673,
"cds_end": null,
"cds_length": 294,
"cds_start": 221,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001320415.2",
"gene_hgnc_id": 6913,
"gene_symbol": "MAX",
"hgvs_c": "c.221G>A",
"hgvs_p": "p.Gly74Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307344.1",
"strand": false,
"transcript": "NM_001320415.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 97,
"aa_ref": "G",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2059,
"cdna_start": 637,
"cds_end": null,
"cds_length": 294,
"cds_start": 221,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001407105.1",
"gene_hgnc_id": 6913,
"gene_symbol": "MAX",
"hgvs_c": "c.221G>A",
"hgvs_p": "p.Gly74Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394034.1",
"strand": false,
"transcript": "NM_001407105.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
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"aa_length": 97,
"aa_ref": "G",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1890,
"cdna_start": 468,
"cds_end": null,
"cds_length": 294,
"cds_start": 221,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001407106.1",
"gene_hgnc_id": 6913,
"gene_symbol": "MAX",
"hgvs_c": "c.221G>A",
"hgvs_p": "p.Gly74Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394035.1",
"strand": false,
"transcript": "NM_001407106.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 97,
"aa_ref": "G",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1923,
"cdna_start": 501,
"cds_end": null,
"cds_length": 294,
"cds_start": 221,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001407107.1",
"gene_hgnc_id": 6913,
"gene_symbol": "MAX",
"hgvs_c": "c.221G>A",
"hgvs_p": "p.Gly74Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394036.1",
"strand": false,
"transcript": "NM_001407107.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 97,
"aa_ref": "G",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 728,
"cdna_start": 641,
"cds_end": null,
"cds_length": 294,
"cds_start": 221,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000557277.5",
"gene_hgnc_id": 6913,
"gene_symbol": "MAX",
"hgvs_c": "c.221G>A",
"hgvs_p": "p.Gly74Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450955.1",
"strand": false,
"transcript": "ENST00000557277.5",
"transcript_support_level": 3
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 93,
"aa_ref": "G",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2140,
"cdna_start": 718,
"cds_end": null,
"cds_length": 282,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001407111.1",
"gene_hgnc_id": 6913,
"gene_symbol": "MAX",
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Gly70Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394040.1",
"strand": false,
"transcript": "NM_001407111.1",
"transcript_support_level": null
},
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],
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]
}