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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: 16-724412-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=724412&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CCDC78",
"hgnc_id": 14153,
"hgvs_c": "c.863G>A",
"hgvs_p": "p.Arg288His",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_001378030.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_score": -4,
"allele_count_reference_population": 149,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.316,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.12,
"chr": "16",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Congenital myopathy with internal nuclei and atypical cores",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.4243953227996826,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 470,
"aa_ref": "R",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1585,
"cdna_start": 939,
"cds_end": null,
"cds_length": 1413,
"cds_start": 863,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001378030.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.863G>A",
"hgvs_p": "p.Arg288His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000345165.10",
"protein_coding": true,
"protein_id": "NP_001364959.1",
"strand": false,
"transcript": "NM_001378030.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 470,
"aa_ref": "R",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1585,
"cdna_start": 939,
"cds_end": null,
"cds_length": 1413,
"cds_start": 863,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000345165.10",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.863G>A",
"hgvs_p": "p.Arg288His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001378030.1",
"protein_coding": true,
"protein_id": "ENSP00000316851.5",
"strand": false,
"transcript": "ENST00000345165.10",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 438,
"aa_ref": "R",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1611,
"cdna_start": 969,
"cds_end": null,
"cds_length": 1317,
"cds_start": 863,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000293889.10",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.863G>A",
"hgvs_p": "p.Arg288His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000293889.6",
"strand": false,
"transcript": "ENST00000293889.10",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 482,
"aa_ref": "R",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1617,
"cdna_start": 945,
"cds_end": null,
"cds_length": 1449,
"cds_start": 863,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000947033.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.863G>A",
"hgvs_p": "p.Arg288His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617092.1",
"strand": false,
"transcript": "ENST00000947033.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 480,
"aa_ref": "R",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1619,
"cdna_start": 972,
"cds_end": null,
"cds_length": 1443,
"cds_start": 893,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000947032.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.893G>A",
"hgvs_p": "p.Arg298His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617091.1",
"strand": false,
"transcript": "ENST00000947032.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 462,
"aa_ref": "R",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1569,
"cdna_start": 948,
"cds_end": null,
"cds_length": 1389,
"cds_start": 863,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000853033.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.863G>A",
"hgvs_p": "p.Arg288His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523092.1",
"strand": false,
"transcript": "ENST00000853033.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 459,
"aa_ref": "R",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1567,
"cdna_start": 921,
"cds_end": null,
"cds_length": 1380,
"cds_start": 830,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000853031.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.830G>A",
"hgvs_p": "p.Arg277His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523090.1",
"strand": false,
"transcript": "ENST00000853031.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 445,
"aa_ref": "R",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1501,
"cdna_start": 939,
"cds_end": null,
"cds_length": 1338,
"cds_start": 863,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000853036.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.863G>A",
"hgvs_p": "p.Arg288His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523095.1",
"strand": false,
"transcript": "ENST00000853036.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 438,
"aa_ref": "R",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1581,
"cdna_start": 939,
"cds_end": null,
"cds_length": 1317,
"cds_start": 863,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001031737.3",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.863G>A",
"hgvs_p": "p.Arg288His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001026907.2",
"strand": false,
"transcript": "NM_001031737.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 428,
"aa_ref": "R",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1464,
"cdna_start": 822,
"cds_end": null,
"cds_length": 1287,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000853035.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523094.1",
"strand": false,
"transcript": "ENST00000853035.1",
"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": 1431,
"cdna_start": 792,
"cds_end": null,
"cds_length": 1245,
"cds_start": 695,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000853032.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523091.1",
"strand": false,
"transcript": "ENST00000853032.1",
"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": 1405,
"cdna_start": 939,
"cds_end": null,
"cds_length": 1233,
"cds_start": 863,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
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"feature": "NM_001378031.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.863G>A",
"hgvs_p": "p.Arg288His",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001364960.1",
"strand": false,
"transcript": "NM_001378031.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": 945,
"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 12,
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"feature": "ENST00000853034.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.863G>A",
"hgvs_p": "p.Arg288His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523093.1",
"strand": false,
"transcript": "ENST00000853034.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 281,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1259,
"cdna_start": 613,
"cds_end": null,
"cds_length": 846,
"cds_start": 296,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001378033.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.296G>A",
"hgvs_p": "p.Arg99His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364962.1",
"strand": false,
"transcript": "NM_001378033.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 1386,
"cds_end": null,
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"cds_start": 1310,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011522356.2",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1310G>A",
"hgvs_p": "p.Arg437His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520658.1",
"strand": false,
"transcript": "XM_011522356.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 639,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2092,
"cdna_start": 1374,
"cds_end": null,
"cds_length": 1920,
"cds_start": 1298,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011522357.2",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1298G>A",
"hgvs_p": "p.Arg433His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520659.1",
"strand": false,
"transcript": "XM_011522357.2",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 1386,
"cds_end": null,
"cds_length": 1908,
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"consequences": [
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],
"exon_count": 9,
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"feature": "XM_011522358.3",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1310G>A",
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"protein_coding": true,
"protein_id": "XP_011520660.1",
"strand": false,
"transcript": "XM_011522358.3",
"transcript_support_level": null
},
{
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"cds_end": null,
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"consequences": [
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],
"exon_count": 9,
"exon_rank": 5,
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"feature": "XM_011522359.2",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1277G>A",
"hgvs_p": "p.Arg426His",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011520661.1",
"strand": false,
"transcript": "XM_011522359.2",
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},
{
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"cds_end": null,
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"consequences": [
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],
"exon_count": 11,
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"feature": "XM_011522360.2",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1265G>A",
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"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011520662.1",
"strand": false,
"transcript": "XM_011522360.2",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 1386,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1310,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011522361.2",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1310G>A",
"hgvs_p": "p.Arg437His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520663.1",
"strand": false,
"transcript": "XM_011522361.2",
"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": 2008,
"cdna_start": 1386,
"cds_end": null,
"cds_length": 1836,
"cds_start": 1310,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_017022929.2",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1310G>A",
"hgvs_p": "p.Arg437His",
"intron_rank": null,
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