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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: 17-81906493-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=81906493&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PCYT2",
"hgnc_id": 8756,
"hgvs_c": "c.784T>C",
"hgvs_p": "p.Tyr262His",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001184917.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.704,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.53,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9109008312225342,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 389,
"aa_ref": "Y",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5089,
"cdna_start": 774,
"cds_end": null,
"cds_length": 1170,
"cds_start": 730,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_002861.5",
"gene_hgnc_id": 8756,
"gene_symbol": "PCYT2",
"hgvs_c": "c.730T>C",
"hgvs_p": "p.Tyr244His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000538936.7",
"protein_coding": true,
"protein_id": "NP_002852.1",
"strand": false,
"transcript": "NM_002861.5",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 389,
"aa_ref": "Y",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5089,
"cdna_start": 774,
"cds_end": null,
"cds_length": 1170,
"cds_start": 730,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000538936.7",
"gene_hgnc_id": 8756,
"gene_symbol": "PCYT2",
"hgvs_c": "c.730T>C",
"hgvs_p": "p.Tyr244His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002861.5",
"protein_coding": true,
"protein_id": "ENSP00000439245.3",
"strand": false,
"transcript": "ENST00000538936.7",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 407,
"aa_ref": "Y",
"aa_start": 262,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1765,
"cdna_start": 835,
"cds_end": null,
"cds_length": 1224,
"cds_start": 784,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000538721.6",
"gene_hgnc_id": 8756,
"gene_symbol": "PCYT2",
"hgvs_c": "c.784T>C",
"hgvs_p": "p.Tyr262His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000442050.2",
"strand": false,
"transcript": "ENST00000538721.6",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 441,
"aa_ref": "Y",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1970,
"cdna_start": 952,
"cds_end": null,
"cds_length": 1326,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000883690.1",
"gene_hgnc_id": 8756,
"gene_symbol": "PCYT2",
"hgvs_c": "c.886T>C",
"hgvs_p": "p.Tyr296His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553749.1",
"strand": false,
"transcript": "ENST00000883690.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 441,
"aa_ref": "Y",
"aa_start": 262,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1890,
"cdna_start": 841,
"cds_end": null,
"cds_length": 1326,
"cds_start": 784,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000883694.1",
"gene_hgnc_id": 8756,
"gene_symbol": "PCYT2",
"hgvs_c": "c.784T>C",
"hgvs_p": "p.Tyr262His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553753.1",
"strand": false,
"transcript": "ENST00000883694.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 429,
"aa_ref": "Y",
"aa_start": 262,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1981,
"cdna_start": 830,
"cds_end": null,
"cds_length": 1290,
"cds_start": 784,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000956688.1",
"gene_hgnc_id": 8756,
"gene_symbol": "PCYT2",
"hgvs_c": "c.784T>C",
"hgvs_p": "p.Tyr262His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626747.1",
"strand": false,
"transcript": "ENST00000956688.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 423,
"aa_ref": "Y",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1948,
"cdna_start": 777,
"cds_end": null,
"cds_length": 1272,
"cds_start": 730,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000883689.1",
"gene_hgnc_id": 8756,
"gene_symbol": "PCYT2",
"hgvs_c": "c.730T>C",
"hgvs_p": "p.Tyr244His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553748.1",
"strand": false,
"transcript": "ENST00000883689.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 411,
"aa_ref": "Y",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1949,
"cdna_start": 805,
"cds_end": null,
"cds_length": 1236,
"cds_start": 730,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000956687.1",
"gene_hgnc_id": 8756,
"gene_symbol": "PCYT2",
"hgvs_c": "c.730T>C",
"hgvs_p": "p.Tyr244His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626746.1",
"strand": false,
"transcript": "ENST00000956687.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 407,
"aa_ref": "Y",
"aa_start": 262,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5143,
"cdna_start": 828,
"cds_end": null,
"cds_length": 1224,
"cds_start": 784,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001184917.3",
"gene_hgnc_id": 8756,
"gene_symbol": "PCYT2",
"hgvs_c": "c.784T>C",
"hgvs_p": "p.Tyr262His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171846.1",
"strand": false,
"transcript": "NM_001184917.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 406,
"aa_ref": "Y",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1784,
"cdna_start": 825,
"cds_end": null,
"cds_length": 1221,
"cds_start": 781,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000883695.1",
"gene_hgnc_id": 8756,
"gene_symbol": "PCYT2",
"hgvs_c": "c.781T>C",
"hgvs_p": "p.Tyr261His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553754.1",
"strand": false,
"transcript": "ENST00000883695.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 405,
"aa_ref": "Y",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2028,
"cdna_start": 822,
"cds_end": null,
"cds_length": 1218,
"cds_start": 778,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000883684.1",
"gene_hgnc_id": 8756,
"gene_symbol": "PCYT2",
"hgvs_c": "c.778T>C",
"hgvs_p": "p.Tyr260His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553743.1",
"strand": false,
"transcript": "ENST00000883684.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 403,
"aa_ref": "Y",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1763,
"cdna_start": 816,
"cds_end": null,
"cds_length": 1212,
"cds_start": 772,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000883697.1",
"gene_hgnc_id": 8756,
"gene_symbol": "PCYT2",
"hgvs_c": "c.772T>C",
"hgvs_p": "p.Tyr258His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553756.1",
"strand": false,
"transcript": "ENST00000883697.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 401,
"aa_ref": "Y",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3202,
"cdna_start": 832,
"cds_end": null,
"cds_length": 1206,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000883681.1",
"gene_hgnc_id": 8756,
"gene_symbol": "PCYT2",
"hgvs_c": "c.766T>C",
"hgvs_p": "p.Tyr256His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553740.1",
"strand": false,
"transcript": "ENST00000883681.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 400,
"aa_ref": "Y",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1835,
"cdna_start": 817,
"cds_end": null,
"cds_length": 1203,
"cds_start": 763,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000883692.1",
"gene_hgnc_id": 8756,
"gene_symbol": "PCYT2",
"hgvs_c": "c.763T>C",
"hgvs_p": "p.Tyr255His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553751.1",
"strand": false,
"transcript": "ENST00000883692.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 389,
"aa_ref": "Y",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1814,
"cdna_start": 774,
"cds_end": null,
"cds_length": 1170,
"cds_start": 730,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000883691.1",
"gene_hgnc_id": 8756,
"gene_symbol": "PCYT2",
"hgvs_c": "c.730T>C",
"hgvs_p": "p.Tyr244His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553750.1",
"strand": false,
"transcript": "ENST00000883691.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 388,
"aa_ref": "Y",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1853,
"cdna_start": 778,
"cds_end": null,
"cds_length": 1167,
"cds_start": 727,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000883687.1",
"gene_hgnc_id": 8756,
"gene_symbol": "PCYT2",
"hgvs_c": "c.727T>C",
"hgvs_p": "p.Tyr243His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553746.1",
"strand": false,
"transcript": "ENST00000883687.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 388,
"aa_ref": "Y",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1721,
"cdna_start": 777,
"cds_end": null,
"cds_length": 1167,
"cds_start": 730,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000883696.1",
"gene_hgnc_id": 8756,
"gene_symbol": "PCYT2",
"hgvs_c": "c.730T>C",
"hgvs_p": "p.Tyr244His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553755.1",
"strand": false,
"transcript": "ENST00000883696.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_ref": "Y",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 798,
"cds_end": null,
"cds_length": 1167,
"cds_start": 730,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000956686.1",
"gene_hgnc_id": 8756,
"gene_symbol": "PCYT2",
"hgvs_c": "c.730T>C",
"hgvs_p": "p.Tyr244His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626745.1",
"strand": false,
"transcript": "ENST00000956686.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_ref": "Y",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3179,
"cdna_start": 879,
"cds_end": null,
"cds_length": 1158,
"cds_start": 784,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000883679.1",
"gene_hgnc_id": 8756,
"gene_symbol": "PCYT2",
"hgvs_c": "c.784T>C",
"hgvs_p": "p.Tyr262His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553738.1",
"strand": false,
"transcript": "ENST00000883679.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 385,
"aa_ref": "Y",
"aa_start": 262,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1724,
"cdna_start": 828,
"cds_end": null,
"cds_length": 1158,
"cds_start": 784,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000883693.1",
"gene_hgnc_id": 8756,
"gene_symbol": "PCYT2",
"hgvs_c": "c.784T>C",
"hgvs_p": "p.Tyr262His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553752.1",
"strand": false,
"transcript": "ENST00000883693.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 383,
"aa_ref": "Y",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3145,
"cdna_start": 787,
"cds_end": null,
"cds_length": 1152,
"cds_start": 712,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000883682.1",
"gene_hgnc_id": 8756,
"gene_symbol": "PCYT2",
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