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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: X-47566722-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=47566722&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ARAF",
"hgnc_id": 646,
"hgvs_c": "c.650C>T",
"hgvs_p": "p.Ser217Phe",
"inheritance_mode": "AD",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001256196.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9973,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.34,
"chr": "X",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7915058135986328,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 606,
"aa_ref": "S",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2378,
"cdna_start": 747,
"cds_end": null,
"cds_length": 1821,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001654.5",
"gene_hgnc_id": 646,
"gene_symbol": "ARAF",
"hgvs_c": "c.641C>T",
"hgvs_p": "p.Ser214Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000377045.9",
"protein_coding": true,
"protein_id": "NP_001645.1",
"strand": true,
"transcript": "NM_001654.5",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 606,
"aa_ref": "S",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2378,
"cdna_start": 747,
"cds_end": null,
"cds_length": 1821,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000377045.9",
"gene_hgnc_id": 646,
"gene_symbol": "ARAF",
"hgvs_c": "c.641C>T",
"hgvs_p": "p.Ser214Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001654.5",
"protein_coding": true,
"protein_id": "ENSP00000366244.4",
"strand": true,
"transcript": "ENST00000377045.9",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 621,
"aa_ref": "S",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2428,
"cdna_start": 754,
"cds_end": null,
"cds_length": 1866,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000895646.1",
"gene_hgnc_id": 646,
"gene_symbol": "ARAF",
"hgvs_c": "c.641C>T",
"hgvs_p": "p.Ser214Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565705.1",
"strand": true,
"transcript": "ENST00000895646.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 617,
"aa_ref": "S",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2401,
"cdna_start": 778,
"cds_end": null,
"cds_length": 1854,
"cds_start": 674,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000895654.1",
"gene_hgnc_id": 646,
"gene_symbol": "ARAF",
"hgvs_c": "c.674C>T",
"hgvs_p": "p.Ser225Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565713.1",
"strand": true,
"transcript": "ENST00000895654.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 616,
"aa_ref": "S",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2417,
"cdna_start": 756,
"cds_end": null,
"cds_length": 1851,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000895644.1",
"gene_hgnc_id": 646,
"gene_symbol": "ARAF",
"hgvs_c": "c.641C>T",
"hgvs_p": "p.Ser214Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565703.1",
"strand": true,
"transcript": "ENST00000895644.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 616,
"aa_ref": "S",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2381,
"cdna_start": 752,
"cds_end": null,
"cds_length": 1851,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000895655.1",
"gene_hgnc_id": 646,
"gene_symbol": "ARAF",
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Ser224Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565714.1",
"strand": true,
"transcript": "ENST00000895655.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 612,
"aa_ref": "S",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2396,
"cdna_start": 767,
"cds_end": null,
"cds_length": 1839,
"cds_start": 659,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000895648.1",
"gene_hgnc_id": 646,
"gene_symbol": "ARAF",
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Ser220Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565707.1",
"strand": true,
"transcript": "ENST00000895648.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 611,
"aa_ref": "S",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2424,
"cdna_start": 782,
"cds_end": null,
"cds_length": 1836,
"cds_start": 656,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000895640.1",
"gene_hgnc_id": 646,
"gene_symbol": "ARAF",
"hgvs_c": "c.656C>T",
"hgvs_p": "p.Ser219Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565699.1",
"strand": true,
"transcript": "ENST00000895640.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 611,
"aa_ref": "S",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2464,
"cdna_start": 841,
"cds_end": null,
"cds_length": 1836,
"cds_start": 656,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000895653.1",
"gene_hgnc_id": 646,
"gene_symbol": "ARAF",
"hgvs_c": "c.656C>T",
"hgvs_p": "p.Ser219Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565712.1",
"strand": true,
"transcript": "ENST00000895653.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 611,
"aa_ref": "S",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2619,
"cdna_start": 988,
"cds_end": null,
"cds_length": 1836,
"cds_start": 656,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000914657.1",
"gene_hgnc_id": 646,
"gene_symbol": "ARAF",
"hgvs_c": "c.656C>T",
"hgvs_p": "p.Ser219Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584716.1",
"strand": true,
"transcript": "ENST00000914657.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 611,
"aa_ref": "S",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3998,
"cdna_start": 2384,
"cds_end": null,
"cds_length": 1836,
"cds_start": 656,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000914659.1",
"gene_hgnc_id": 646,
"gene_symbol": "ARAF",
"hgvs_c": "c.656C>T",
"hgvs_p": "p.Ser219Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584718.1",
"strand": true,
"transcript": "ENST00000914659.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 609,
"aa_ref": "S",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2387,
"cdna_start": 756,
"cds_end": null,
"cds_length": 1830,
"cds_start": 650,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001256196.2",
"gene_hgnc_id": 646,
"gene_symbol": "ARAF",
"hgvs_c": "c.650C>T",
"hgvs_p": "p.Ser217Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243125.1",
"strand": true,
"transcript": "NM_001256196.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 609,
"aa_ref": "S",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2421,
"cdna_start": 779,
"cds_end": null,
"cds_length": 1830,
"cds_start": 650,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000895639.1",
"gene_hgnc_id": 646,
"gene_symbol": "ARAF",
"hgvs_c": "c.650C>T",
"hgvs_p": "p.Ser217Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565698.1",
"strand": true,
"transcript": "ENST00000895639.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 606,
"aa_ref": "S",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2494,
"cdna_start": 851,
"cds_end": null,
"cds_length": 1821,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000895638.1",
"gene_hgnc_id": 646,
"gene_symbol": "ARAF",
"hgvs_c": "c.641C>T",
"hgvs_p": "p.Ser214Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565697.1",
"strand": true,
"transcript": "ENST00000895638.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 606,
"aa_ref": "S",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2619,
"cdna_start": 977,
"cds_end": null,
"cds_length": 1821,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000895642.1",
"gene_hgnc_id": 646,
"gene_symbol": "ARAF",
"hgvs_c": "c.641C>T",
"hgvs_p": "p.Ser214Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565701.1",
"strand": true,
"transcript": "ENST00000895642.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 606,
"aa_ref": "S",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2547,
"cdna_start": 918,
"cds_end": null,
"cds_length": 1821,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000895650.1",
"gene_hgnc_id": 646,
"gene_symbol": "ARAF",
"hgvs_c": "c.641C>T",
"hgvs_p": "p.Ser214Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565709.1",
"strand": true,
"transcript": "ENST00000895650.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 606,
"aa_ref": "S",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2368,
"cdna_start": 743,
"cds_end": null,
"cds_length": 1821,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000895651.1",
"gene_hgnc_id": 646,
"gene_symbol": "ARAF",
"hgvs_c": "c.641C>T",
"hgvs_p": "p.Ser214Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565710.1",
"strand": true,
"transcript": "ENST00000895651.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 606,
"aa_ref": "S",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3206,
"cdna_start": 1583,
"cds_end": null,
"cds_length": 1821,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000895656.1",
"gene_hgnc_id": 646,
"gene_symbol": "ARAF",
"hgvs_c": "c.641C>T",
"hgvs_p": "p.Ser214Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565715.1",
"strand": true,
"transcript": "ENST00000895656.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 606,
"aa_ref": "S",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2418,
"cdna_start": 788,
"cds_end": null,
"cds_length": 1821,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000914658.1",
"gene_hgnc_id": 646,
"gene_symbol": "ARAF",
"hgvs_c": "c.641C>T",
"hgvs_p": "p.Ser214Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584717.1",
"strand": true,
"transcript": "ENST00000914658.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 605,
"aa_ref": "S",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2396,
"cdna_start": 767,
"cds_end": null,
"cds_length": 1818,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000895641.1",
"gene_hgnc_id": 646,
"gene_symbol": "ARAF",
"hgvs_c": "c.641C>T",
"hgvs_p": "p.Ser214Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565700.1",
"strand": true,
"transcript": "ENST00000895641.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 605,
"aa_ref": "S",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2376,
"cdna_start": 745,
"cds_end": null,
"cds_length": 1818,
"cds_start": 638,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000895647.1",
"gene_hgnc_id": 646,
"gene_symbol": "ARAF",
"hgvs_c": "c.638C>T",
"hgvs_p": "p.Ser213Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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