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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: 17-15230997-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=15230997&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PMP22",
"hgnc_id": 9118,
"hgvs_c": "c.403G>C",
"hgvs_p": "p.Ala135Pro",
"inheritance_mode": "AD",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_000304.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2",
"acmg_score": 4,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.7332,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.07,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.596902072429657,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 160,
"aa_ref": "A",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1828,
"cdna_start": 610,
"cds_end": null,
"cds_length": 483,
"cds_start": 403,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_000304.4",
"gene_hgnc_id": 9118,
"gene_symbol": "PMP22",
"hgvs_c": "c.403G>C",
"hgvs_p": "p.Ala135Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000312280.9",
"protein_coding": true,
"protein_id": "NP_000295.1",
"strand": false,
"transcript": "NM_000304.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 160,
"aa_ref": "A",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1828,
"cdna_start": 610,
"cds_end": null,
"cds_length": 483,
"cds_start": 403,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000312280.9",
"gene_hgnc_id": 9118,
"gene_symbol": "PMP22",
"hgvs_c": "c.403G>C",
"hgvs_p": "p.Ala135Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000304.4",
"protein_coding": true,
"protein_id": "ENSP00000308937.3",
"strand": false,
"transcript": "ENST00000312280.9",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 217,
"aa_ref": "R",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1803,
"cdna_start": 585,
"cds_end": null,
"cds_length": 654,
"cds_start": 392,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000395938.7",
"gene_hgnc_id": 9118,
"gene_symbol": "PMP22",
"hgvs_c": "c.392G>C",
"hgvs_p": "p.Arg131Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379269.3",
"strand": false,
"transcript": "ENST00000395938.7",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 92,
"aa_ref": "A",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1616,
"cdna_start": 398,
"cds_end": null,
"cds_length": 279,
"cds_start": 199,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000494511.7",
"gene_hgnc_id": 9118,
"gene_symbol": "PMP22",
"hgvs_c": "c.199G>C",
"hgvs_p": "p.Ala67Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462782.2",
"strand": false,
"transcript": "ENST00000494511.7",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 217,
"aa_ref": "R",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1662,
"cdna_start": 483,
"cds_end": null,
"cds_length": 654,
"cds_start": 392,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000674947.1",
"gene_hgnc_id": 9118,
"gene_symbol": "PMP22",
"hgvs_c": "c.392G>C",
"hgvs_p": "p.Arg131Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501580.1",
"strand": false,
"transcript": "ENST00000674947.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 194,
"aa_ref": "A",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1757,
"cdna_start": 539,
"cds_end": null,
"cds_length": 585,
"cds_start": 505,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000676329.1",
"gene_hgnc_id": 9118,
"gene_symbol": "PMP22",
"hgvs_c": "c.505G>C",
"hgvs_p": "p.Ala169Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501698.1",
"strand": false,
"transcript": "ENST00000676329.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 167,
"aa_ref": "A",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1793,
"cdna_start": 582,
"cds_end": null,
"cds_length": 504,
"cds_start": 424,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000901372.1",
"gene_hgnc_id": 9118,
"gene_symbol": "PMP22",
"hgvs_c": "c.424G>C",
"hgvs_p": "p.Ala142Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571431.1",
"strand": false,
"transcript": "ENST00000901372.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 160,
"aa_ref": "A",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1783,
"cdna_start": 565,
"cds_end": null,
"cds_length": 483,
"cds_start": 403,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001281455.2",
"gene_hgnc_id": 9118,
"gene_symbol": "PMP22",
"hgvs_c": "c.403G>C",
"hgvs_p": "p.Ala135Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001268384.1",
"strand": false,
"transcript": "NM_001281455.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 160,
"aa_ref": "A",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1824,
"cdna_start": 606,
"cds_end": null,
"cds_length": 483,
"cds_start": 403,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001281456.2",
"gene_hgnc_id": 9118,
"gene_symbol": "PMP22",
"hgvs_c": "c.403G>C",
"hgvs_p": "p.Ala135Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001268385.1",
"strand": false,
"transcript": "NM_001281456.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 160,
"aa_ref": "A",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1779,
"cdna_start": 561,
"cds_end": null,
"cds_length": 483,
"cds_start": 403,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_153321.3",
"gene_hgnc_id": 9118,
"gene_symbol": "PMP22",
"hgvs_c": "c.403G>C",
"hgvs_p": "p.Ala135Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_696996.1",
"strand": false,
"transcript": "NM_153321.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 160,
"aa_ref": "A",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1714,
"cdna_start": 496,
"cds_end": null,
"cds_length": 483,
"cds_start": 403,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_153322.3",
"gene_hgnc_id": 9118,
"gene_symbol": "PMP22",
"hgvs_c": "c.403G>C",
"hgvs_p": "p.Ala135Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_696997.1",
"strand": false,
"transcript": "NM_153322.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 160,
"aa_ref": "A",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1828,
"cdna_start": 610,
"cds_end": null,
"cds_length": 483,
"cds_start": 403,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000612492.5",
"gene_hgnc_id": 9118,
"gene_symbol": "PMP22",
"hgvs_c": "c.403G>C",
"hgvs_p": "p.Ala135Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000484631.1",
"strand": false,
"transcript": "ENST00000612492.5",
"transcript_support_level": 3
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 160,
"aa_ref": "A",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1755,
"cdna_start": 548,
"cds_end": null,
"cds_length": 483,
"cds_start": 403,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000674651.1",
"gene_hgnc_id": 9118,
"gene_symbol": "PMP22",
"hgvs_c": "c.403G>C",
"hgvs_p": "p.Ala135Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501727.1",
"strand": false,
"transcript": "ENST00000674651.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 160,
"aa_ref": "A",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2423,
"cdna_start": 1199,
"cds_end": null,
"cds_length": 483,
"cds_start": 403,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000674673.1",
"gene_hgnc_id": 9118,
"gene_symbol": "PMP22",
"hgvs_c": "c.403G>C",
"hgvs_p": "p.Ala135Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501804.1",
"strand": false,
"transcript": "ENST00000674673.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 160,
"aa_ref": "A",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1312,
"cdna_start": 1034,
"cds_end": null,
"cds_length": 483,
"cds_start": 403,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000674868.1",
"gene_hgnc_id": 9118,
"gene_symbol": "PMP22",
"hgvs_c": "c.403G>C",
"hgvs_p": "p.Ala135Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502835.1",
"strand": false,
"transcript": "ENST00000674868.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 160,
"aa_ref": "A",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1058,
"cdna_start": 773,
"cds_end": null,
"cds_length": 483,
"cds_start": 403,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000675350.1",
"gene_hgnc_id": 9118,
"gene_symbol": "PMP22",
"hgvs_c": "c.403G>C",
"hgvs_p": "p.Ala135Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501557.1",
"strand": false,
"transcript": "ENST00000675350.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 160,
"aa_ref": "A",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2047,
"cdna_start": 836,
"cds_end": null,
"cds_length": 483,
"cds_start": 403,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000675808.1",
"gene_hgnc_id": 9118,
"gene_symbol": "PMP22",
"hgvs_c": "c.403G>C",
"hgvs_p": "p.Ala135Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502310.1",
"strand": false,
"transcript": "ENST00000675808.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 160,
"aa_ref": "A",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1774,
"cdna_start": 556,
"cds_end": null,
"cds_length": 483,
"cds_start": 403,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000675819.1",
"gene_hgnc_id": 9118,
"gene_symbol": "PMP22",
"hgvs_c": "c.403G>C",
"hgvs_p": "p.Ala135Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502018.1",
"strand": false,
"transcript": "ENST00000675819.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 160,
"aa_ref": "A",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1789,
"cdna_start": 577,
"cds_end": null,
"cds_length": 483,
"cds_start": 403,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000675950.1",
"gene_hgnc_id": 9118,
"gene_symbol": "PMP22",
"hgvs_c": "c.403G>C",
"hgvs_p": "p.Ala135Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501546.1",
"strand": false,
"transcript": "ENST00000675950.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 160,
"aa_ref": "A",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1819,
"cdna_start": 606,
"cds_end": null,
"cds_length": 483,
"cds_start": 403,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000676221.1",
"gene_hgnc_id": 9118,
"gene_symbol": "PMP22",
"hgvs_c": "c.403G>C",
"hgvs_p": "p.Ala135Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502601.1",
"strand": false,
"transcript": "ENST00000676221.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 160,
"aa_ref": "A",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2049,
"cdna_start": 832,
"cds_end": null,
"cds_length": 483,
"cds_start": 403,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000901368.1",
"gene_hgnc_id": 9118,
"gene_symbol": "PMP22",
"hgvs_c": "c.403G>C",
"hgvs_p": "p.Ala135Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571427.1",
"strand": false,
"transcript": "ENST00000901368.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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