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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: 2-119321202-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=119321202&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "C2orf76",
"hgnc_id": 27017,
"hgvs_c": "c.136A>G",
"hgvs_p": "p.Ile46Val",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001017927.4",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000309372",
"hgnc_id": null,
"hgvs_c": "n.214-2918T>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000840621.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 894751,
"alphamissense_prediction": null,
"alphamissense_score": 0.0663,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.68,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 6.337700142466929e-7,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 126,
"aa_ref": "I",
"aa_start": 46,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 685,
"cdna_start": 193,
"cds_end": null,
"cds_length": 381,
"cds_start": 136,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001322331.2",
"gene_hgnc_id": 27017,
"gene_symbol": "C2orf76",
"hgvs_c": "c.136A>G",
"hgvs_p": "p.Ile46Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000334816.12",
"protein_coding": true,
"protein_id": "NP_001309260.1",
"strand": false,
"transcript": "NM_001322331.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 126,
"aa_ref": "I",
"aa_start": 46,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 685,
"cdna_start": 193,
"cds_end": null,
"cds_length": 381,
"cds_start": 136,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000334816.12",
"gene_hgnc_id": 27017,
"gene_symbol": "C2orf76",
"hgvs_c": "c.136A>G",
"hgvs_p": "p.Ile46Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001322331.2",
"protein_coding": true,
"protein_id": "ENSP00000335041.7",
"strand": false,
"transcript": "ENST00000334816.12",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 126,
"aa_ref": "I",
"aa_start": 46,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1150,
"cdna_start": 658,
"cds_end": null,
"cds_length": 381,
"cds_start": 136,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000409466.6",
"gene_hgnc_id": 27017,
"gene_symbol": "C2orf76",
"hgvs_c": "c.136A>G",
"hgvs_p": "p.Ile46Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386302.2",
"strand": false,
"transcript": "ENST00000409466.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 126,
"aa_ref": "I",
"aa_start": 46,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 747,
"cdna_start": 474,
"cds_end": null,
"cds_length": 381,
"cds_start": 136,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000409523.1",
"gene_hgnc_id": 27017,
"gene_symbol": "C2orf76",
"hgvs_c": "c.136A>G",
"hgvs_p": "p.Ile46Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386714.1",
"strand": false,
"transcript": "ENST00000409523.1",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 126,
"aa_ref": "I",
"aa_start": 46,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 950,
"cdna_start": 677,
"cds_end": null,
"cds_length": 381,
"cds_start": 136,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000409877.5",
"gene_hgnc_id": 27017,
"gene_symbol": "C2orf76",
"hgvs_c": "c.136A>G",
"hgvs_p": "p.Ile46Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387234.1",
"strand": false,
"transcript": "ENST00000409877.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 159,
"aa_ref": "I",
"aa_start": 46,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2290,
"cdna_start": 193,
"cds_end": null,
"cds_length": 480,
"cds_start": 136,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000878327.1",
"gene_hgnc_id": 27017,
"gene_symbol": "C2orf76",
"hgvs_c": "c.136A>G",
"hgvs_p": "p.Ile46Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548386.1",
"strand": false,
"transcript": "ENST00000878327.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 159,
"aa_ref": "I",
"aa_start": 46,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1201,
"cdna_start": 173,
"cds_end": null,
"cds_length": 480,
"cds_start": 136,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000967572.1",
"gene_hgnc_id": 27017,
"gene_symbol": "C2orf76",
"hgvs_c": "c.136A>G",
"hgvs_p": "p.Ile46Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637631.1",
"strand": false,
"transcript": "ENST00000967572.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 126,
"aa_ref": "I",
"aa_start": 46,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1638,
"cdna_start": 1146,
"cds_end": null,
"cds_length": 381,
"cds_start": 136,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001017927.4",
"gene_hgnc_id": 27017,
"gene_symbol": "C2orf76",
"hgvs_c": "c.136A>G",
"hgvs_p": "p.Ile46Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001017927.2",
"strand": false,
"transcript": "NM_001017927.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 126,
"aa_ref": "I",
"aa_start": 46,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1559,
"cdna_start": 1067,
"cds_end": null,
"cds_length": 381,
"cds_start": 136,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001322329.2",
"gene_hgnc_id": 27017,
"gene_symbol": "C2orf76",
"hgvs_c": "c.136A>G",
"hgvs_p": "p.Ile46Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309258.1",
"strand": false,
"transcript": "NM_001322329.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 126,
"aa_ref": "I",
"aa_start": 46,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1435,
"cdna_start": 943,
"cds_end": null,
"cds_length": 381,
"cds_start": 136,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001322330.2",
"gene_hgnc_id": 27017,
"gene_symbol": "C2orf76",
"hgvs_c": "c.136A>G",
"hgvs_p": "p.Ile46Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309259.1",
"strand": false,
"transcript": "NM_001322330.2",
"transcript_support_level": null
},
{
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"aa_length": 126,
"aa_ref": "I",
"aa_start": 46,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 881,
"cdna_start": 390,
"cds_end": null,
"cds_length": 381,
"cds_start": 136,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000878329.1",
"gene_hgnc_id": 27017,
"gene_symbol": "C2orf76",
"hgvs_c": "c.136A>G",
"hgvs_p": "p.Ile46Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548388.1",
"strand": false,
"transcript": "ENST00000878329.1",
"transcript_support_level": null
},
{
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"aa_length": 126,
"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 940,
"cdna_start": 456,
"cds_end": null,
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"consequences": [
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"splice_region_variant"
],
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"feature": "ENST00000878330.1",
"gene_hgnc_id": 27017,
"gene_symbol": "C2orf76",
"hgvs_c": "c.136A>G",
"hgvs_p": "p.Ile46Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548389.1",
"strand": false,
"transcript": "ENST00000878330.1",
"transcript_support_level": null
},
{
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"aa_length": 126,
"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1096,
"cdna_start": 187,
"cds_end": null,
"cds_length": 381,
"cds_start": 136,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 3,
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"feature": "ENST00000937463.1",
"gene_hgnc_id": 27017,
"gene_symbol": "C2orf76",
"hgvs_c": "c.136A>G",
"hgvs_p": "p.Ile46Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607522.1",
"strand": false,
"transcript": "ENST00000937463.1",
"transcript_support_level": null
},
{
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"aa_length": 126,
"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3733,
"cdna_start": 3259,
"cds_end": null,
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"consequences": [
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"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 4,
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"feature": "ENST00000967573.1",
"gene_hgnc_id": 27017,
"gene_symbol": "C2orf76",
"hgvs_c": "c.136A>G",
"hgvs_p": "p.Ile46Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637632.1",
"strand": false,
"transcript": "ENST00000967573.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 84,
"aa_ref": "I",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 509,
"cdna_start": 476,
"cds_end": null,
"cds_length": 256,
"cds_start": 223,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000414534.1",
"gene_hgnc_id": 27017,
"gene_symbol": "C2orf76",
"hgvs_c": "c.223A>G",
"hgvs_p": "p.Ile75Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000388482.1",
"strand": false,
"transcript": "ENST00000414534.1",
"transcript_support_level": 4
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 159,
"aa_ref": "I",
"aa_start": 46,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 784,
"cdna_start": 193,
"cds_end": null,
"cds_length": 480,
"cds_start": 136,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_017003354.3",
"gene_hgnc_id": 27017,
"gene_symbol": "C2orf76",
"hgvs_c": "c.136A>G",
"hgvs_p": "p.Ile46Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016858843.1",
"strand": false,
"transcript": "XM_017003354.3",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 759,
"cdna_start": null,
"cds_end": null,
"cds_length": 429,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000937464.1",
"gene_hgnc_id": 27017,
"gene_symbol": "C2orf76",
"hgvs_c": "c.134-3699A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607523.1",
"strand": false,
"transcript": "ENST00000937464.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 109,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 634,
"cdna_start": null,
"cds_end": null,
"cds_length": 330,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001322332.2",
"gene_hgnc_id": 27017,
"gene_symbol": "C2orf76",
"hgvs_c": "c.134-3699A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309261.1",
"strand": false,
"transcript": "NM_001322332.2",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 109,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3412,
"cdna_start": null,
"cds_end": null,
"cds_length": 330,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878326.1",
"gene_hgnc_id": 27017,
"gene_symbol": "C2orf76",
"hgvs_c": "c.134-3699A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548385.1",
"strand": false,
"transcript": "ENST00000878326.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 109,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1059,
"cdna_start": null,
"cds_end": null,
"cds_length": 330,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878328.1",
"gene_hgnc_id": 27017,
"gene_symbol": "C2orf76",
"hgvs_c": "c.134-3699A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548387.1",
"strand": false,
"transcript": "ENST00000878328.1",
"transcript_support_level": null
},
{
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