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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: 2-85552428-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=85552428&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM5",
"PP3_Moderate",
"PP5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GGCX",
"hgnc_id": 4247,
"hgvs_c": "c.1427G>A",
"hgvs_p": "p.Arg476His",
"inheritance_mode": "AR,AD",
"pathogenic_score": 5,
"score": 5,
"transcript": "NM_000821.7",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM5,PP3_Moderate,PP5",
"acmg_score": 5,
"allele_count_reference_population": 9,
"alphamissense_prediction": null,
"alphamissense_score": 0.8656,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.56,
"chr": "2",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.930402398109436,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 758,
"aa_ref": "R",
"aa_start": 476,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7556,
"cdna_start": 1492,
"cds_end": null,
"cds_length": 2277,
"cds_start": 1427,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_000821.7",
"gene_hgnc_id": 4247,
"gene_symbol": "GGCX",
"hgvs_c": "c.1427G>A",
"hgvs_p": "p.Arg476His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000233838.9",
"protein_coding": true,
"protein_id": "NP_000812.2",
"strand": false,
"transcript": "NM_000821.7",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 758,
"aa_ref": "R",
"aa_start": 476,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7556,
"cdna_start": 1492,
"cds_end": null,
"cds_length": 2277,
"cds_start": 1427,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000233838.9",
"gene_hgnc_id": 4247,
"gene_symbol": "GGCX",
"hgvs_c": "c.1427G>A",
"hgvs_p": "p.Arg476His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000821.7",
"protein_coding": true,
"protein_id": "ENSP00000233838.3",
"strand": false,
"transcript": "ENST00000233838.9",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 768,
"aa_ref": "R",
"aa_start": 476,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6364,
"cdna_start": 1468,
"cds_end": null,
"cds_length": 2307,
"cds_start": 1427,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000911478.1",
"gene_hgnc_id": 4247,
"gene_symbol": "GGCX",
"hgvs_c": "c.1427G>A",
"hgvs_p": "p.Arg476His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581537.1",
"strand": false,
"transcript": "ENST00000911478.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 756,
"aa_ref": "R",
"aa_start": 476,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3982,
"cdna_start": 1818,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1427,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000896458.1",
"gene_hgnc_id": 4247,
"gene_symbol": "GGCX",
"hgvs_c": "c.1427G>A",
"hgvs_p": "p.Arg476His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566517.1",
"strand": false,
"transcript": "ENST00000896458.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 754,
"aa_ref": "R",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2868,
"cdna_start": 1452,
"cds_end": null,
"cds_length": 2265,
"cds_start": 1415,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000942085.1",
"gene_hgnc_id": 4247,
"gene_symbol": "GGCX",
"hgvs_c": "c.1415G>A",
"hgvs_p": "p.Arg472His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612144.1",
"strand": false,
"transcript": "ENST00000942085.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 735,
"aa_ref": "R",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3068,
"cdna_start": 1366,
"cds_end": null,
"cds_length": 2208,
"cds_start": 1358,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000689276.1",
"gene_hgnc_id": 4247,
"gene_symbol": "GGCX",
"hgvs_c": "c.1358G>A",
"hgvs_p": "p.Arg453His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510012.1",
"strand": false,
"transcript": "ENST00000689276.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 712,
"aa_ref": "R",
"aa_start": 476,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3097,
"cdna_start": 1521,
"cds_end": null,
"cds_length": 2139,
"cds_start": 1427,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000942081.1",
"gene_hgnc_id": 4247,
"gene_symbol": "GGCX",
"hgvs_c": "c.1427G>A",
"hgvs_p": "p.Arg476His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612140.1",
"strand": false,
"transcript": "ENST00000942081.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 705,
"aa_ref": "R",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2734,
"cdna_start": 1293,
"cds_end": null,
"cds_length": 2118,
"cds_start": 1256,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000896461.1",
"gene_hgnc_id": 4247,
"gene_symbol": "GGCX",
"hgvs_c": "c.1256G>A",
"hgvs_p": "p.Arg419His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566520.1",
"strand": false,
"transcript": "ENST00000896461.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 701,
"aa_ref": "R",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7385,
"cdna_start": 1321,
"cds_end": null,
"cds_length": 2106,
"cds_start": 1256,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001142269.4",
"gene_hgnc_id": 4247,
"gene_symbol": "GGCX",
"hgvs_c": "c.1256G>A",
"hgvs_p": "p.Arg419His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001135741.1",
"strand": false,
"transcript": "NM_001142269.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 701,
"aa_ref": "R",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2314,
"cdna_start": 1360,
"cds_end": null,
"cds_length": 2106,
"cds_start": 1256,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000430215.7",
"gene_hgnc_id": 4247,
"gene_symbol": "GGCX",
"hgvs_c": "c.1256G>A",
"hgvs_p": "p.Arg419His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000408045.3",
"strand": false,
"transcript": "ENST00000430215.7",
"transcript_support_level": 2
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 699,
"aa_ref": "R",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3056,
"cdna_start": 1348,
"cds_end": null,
"cds_length": 2100,
"cds_start": 1256,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000896459.1",
"gene_hgnc_id": 4247,
"gene_symbol": "GGCX",
"hgvs_c": "c.1256G>A",
"hgvs_p": "p.Arg419His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566518.1",
"strand": false,
"transcript": "ENST00000896459.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 697,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2733,
"cdna_start": 1317,
"cds_end": null,
"cds_length": 2094,
"cds_start": 1244,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000942083.1",
"gene_hgnc_id": 4247,
"gene_symbol": "GGCX",
"hgvs_c": "c.1244G>A",
"hgvs_p": "p.Arg415His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612142.1",
"strand": false,
"transcript": "ENST00000942083.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2205,
"cdna_start": 1194,
"cds_end": null,
"cds_length": 2001,
"cds_start": 1157,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000896464.1",
"gene_hgnc_id": 4247,
"gene_symbol": "GGCX",
"hgvs_c": "c.1157G>A",
"hgvs_p": "p.Arg386His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566523.1",
"strand": false,
"transcript": "ENST00000896464.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 655,
"aa_ref": "R",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2602,
"cdna_start": 1324,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1256,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000942084.1",
"gene_hgnc_id": 4247,
"gene_symbol": "GGCX",
"hgvs_c": "c.1256G>A",
"hgvs_p": "p.Arg419His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612143.1",
"strand": false,
"transcript": "ENST00000942084.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 586,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2376,
"cdna_start": 948,
"cds_end": null,
"cds_length": 1761,
"cds_start": 911,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000896462.1",
"gene_hgnc_id": 4247,
"gene_symbol": "GGCX",
"hgvs_c": "c.911G>A",
"hgvs_p": "p.Arg304His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566521.1",
"strand": false,
"transcript": "ENST00000896462.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 533,
"aa_ref": "R",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2520,
"cdna_start": 825,
"cds_end": null,
"cds_length": 1602,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000690595.1",
"gene_hgnc_id": 4247,
"gene_symbol": "GGCX",
"hgvs_c": "c.752G>A",
"hgvs_p": "p.Arg251His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508979.1",
"strand": false,
"transcript": "ENST00000690595.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 530,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2619,
"cdna_start": 917,
"cds_end": null,
"cds_length": 1593,
"cds_start": 743,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000693287.1",
"gene_hgnc_id": 4247,
"gene_symbol": "GGCX",
"hgvs_c": "c.743G>A",
"hgvs_p": "p.Arg248His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510264.1",
"strand": false,
"transcript": "ENST00000693287.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": 835,
"cds_end": null,
"cds_length": 1590,
"cds_start": 740,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000693681.1",
"gene_hgnc_id": 4247,
"gene_symbol": "GGCX",
"hgvs_c": "c.740G>A",
"hgvs_p": "p.Arg247His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510789.1",
"strand": false,
"transcript": "ENST00000693681.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2365,
"cdna_start": 653,
"cds_end": null,
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"cds_start": 581,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000896460.1",
"gene_hgnc_id": 4247,
"gene_symbol": "GGCX",
"hgvs_c": "c.581G>A",
"hgvs_p": "p.Arg194His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566519.1",
"strand": false,
"transcript": "ENST00000896460.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 474,
"aa_ref": "R",
"aa_start": 194,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2345,
"cdna_start": 598,
"cds_end": null,
"cds_length": 1425,
"cds_start": 581,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000942082.1",
"gene_hgnc_id": 4247,
"gene_symbol": "GGCX",
"hgvs_c": "c.581G>A",
"hgvs_p": "p.Arg194His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612141.1",
"strand": false,
"transcript": "ENST00000942082.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 756,
"aa_ref": "R",
"aa_start": 476,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7550,
"cdna_start": 1492,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1427,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_005264259.6",
"gene_hgnc_id": 4247,
"gene_symbol": "GGCX",
"hgvs_c": "c.1427G>A",
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