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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: 6-99558500-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=99558500&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"BP4",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CCNC",
"hgnc_id": 1581,
"hgvs_c": "c.343G>A",
"hgvs_p": "p.Val115Ile",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -5,
"transcript": "NM_005190.4",
"verdict": "Likely_benign"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"intron_variant"
],
"gene_symbol": "TSTD3",
"hgnc_id": 40910,
"hgvs_c": "n.479-9066C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "NR_197367.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_score": -5,
"allele_count_reference_population": 49,
"alphamissense_prediction": null,
"alphamissense_score": 0.1209,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.28,
"chr": "6",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.32110804319381714,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 283,
"aa_ref": "V",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2153,
"cdna_start": 476,
"cds_end": null,
"cds_length": 852,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_005190.4",
"gene_hgnc_id": 1581,
"gene_symbol": "CCNC",
"hgvs_c": "c.343G>A",
"hgvs_p": "p.Val115Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000520429.6",
"protein_coding": true,
"protein_id": "NP_005181.2",
"strand": false,
"transcript": "NM_005190.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 283,
"aa_ref": "V",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2153,
"cdna_start": 476,
"cds_end": null,
"cds_length": 852,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000520429.6",
"gene_hgnc_id": 1581,
"gene_symbol": "CCNC",
"hgvs_c": "c.343G>A",
"hgvs_p": "p.Val115Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005190.4",
"protein_coding": true,
"protein_id": "ENSP00000428982.1",
"strand": false,
"transcript": "ENST00000520429.6",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 282,
"aa_ref": "V",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2118,
"cdna_start": 444,
"cds_end": null,
"cds_length": 849,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000369220.8",
"gene_hgnc_id": 1581,
"gene_symbol": "CCNC",
"hgvs_c": "c.343G>A",
"hgvs_p": "p.Val115Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358222.4",
"strand": false,
"transcript": "ENST00000369220.8",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 143,
"aa_ref": "V",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1704,
"cdna_start": 444,
"cds_end": null,
"cds_length": 432,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000482541.2",
"gene_hgnc_id": 1581,
"gene_symbol": "CCNC",
"hgvs_c": "c.343G>A",
"hgvs_p": "p.Val115Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417072.2",
"strand": false,
"transcript": "ENST00000482541.2",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2212,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000326298.8",
"gene_hgnc_id": 1581,
"gene_symbol": "CCNC",
"hgvs_c": "n.343G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000319027.4",
"strand": false,
"transcript": "ENST00000326298.8",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 292,
"aa_ref": "V",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2162,
"cdna_start": 460,
"cds_end": null,
"cds_length": 879,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000930285.1",
"gene_hgnc_id": 1581,
"gene_symbol": "CCNC",
"hgvs_c": "c.343G>A",
"hgvs_p": "p.Val115Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600344.1",
"strand": false,
"transcript": "ENST00000930285.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 282,
"aa_ref": "V",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2248,
"cdna_start": 476,
"cds_end": null,
"cds_length": 849,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001363537.2",
"gene_hgnc_id": 1581,
"gene_symbol": "CCNC",
"hgvs_c": "c.343G>A",
"hgvs_p": "p.Val115Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350466.1",
"strand": false,
"transcript": "NM_001363537.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 282,
"aa_ref": "V",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1426,
"cdna_start": 478,
"cds_end": null,
"cds_length": 849,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000518714.5",
"gene_hgnc_id": 1581,
"gene_symbol": "CCNC",
"hgvs_c": "c.343G>A",
"hgvs_p": "p.Val115Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430294.1",
"strand": false,
"transcript": "ENST00000518714.5",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 282,
"aa_ref": "V",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2186,
"cdna_start": 529,
"cds_end": null,
"cds_length": 849,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000520371.5",
"gene_hgnc_id": 1581,
"gene_symbol": "CCNC",
"hgvs_c": "c.343G>A",
"hgvs_p": "p.Val115Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430381.1",
"strand": false,
"transcript": "ENST00000520371.5",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 278,
"aa_ref": "V",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2141,
"cdna_start": 479,
"cds_end": null,
"cds_length": 837,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000882416.1",
"gene_hgnc_id": 1581,
"gene_symbol": "CCNC",
"hgvs_c": "c.343G>A",
"hgvs_p": "p.Val115Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552475.1",
"strand": false,
"transcript": "ENST00000882416.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 271,
"aa_ref": "V",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2116,
"cdna_start": 476,
"cds_end": null,
"cds_length": 816,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000882419.1",
"gene_hgnc_id": 1581,
"gene_symbol": "CCNC",
"hgvs_c": "c.343G>A",
"hgvs_p": "p.Val115Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552478.1",
"strand": false,
"transcript": "ENST00000882419.1",
"transcript_support_level": null
},
{
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"aa_length": 269,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2068,
"cdna_start": 433,
"cds_end": null,
"cds_length": 810,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
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"feature": "ENST00000930286.1",
"gene_hgnc_id": 1581,
"gene_symbol": "CCNC",
"hgvs_c": "c.343G>A",
"hgvs_p": "p.Val115Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600345.1",
"strand": false,
"transcript": "ENST00000930286.1",
"transcript_support_level": null
},
{
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"aa_length": 268,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2106,
"cdna_start": 476,
"cds_end": null,
"cds_length": 807,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000882420.1",
"gene_hgnc_id": 1581,
"gene_symbol": "CCNC",
"hgvs_c": "c.343G>A",
"hgvs_p": "p.Val115Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552479.1",
"strand": false,
"transcript": "ENST00000882420.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 247,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2147,
"cdna_start": 578,
"cds_end": null,
"cds_length": 744,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000882415.1",
"gene_hgnc_id": 1581,
"gene_symbol": "CCNC",
"hgvs_c": "c.343G>A",
"hgvs_p": "p.Val115Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552474.1",
"strand": false,
"transcript": "ENST00000882415.1",
"transcript_support_level": null
},
{
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"aa_length": 228,
"aa_ref": "V",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 849,
"cdna_start": 181,
"cds_end": null,
"cds_length": 687,
"cds_start": 181,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000486428.6",
"gene_hgnc_id": 1581,
"gene_symbol": "CCNC",
"hgvs_c": "c.181G>A",
"hgvs_p": "p.Val61Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430077.1",
"strand": false,
"transcript": "ENST00000486428.6",
"transcript_support_level": 3
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 202,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 896,
"cdna_start": 630,
"cds_end": null,
"cds_length": 609,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000627680.2",
"gene_hgnc_id": 1581,
"gene_symbol": "CCNC",
"hgvs_c": "c.343G>A",
"hgvs_p": "p.Val115Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000487040.1",
"strand": false,
"transcript": "ENST00000627680.2",
"transcript_support_level": 5
},
{
"aa_alt": "I",
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"aa_length": 199,
"aa_ref": "V",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2053,
"cdna_start": 630,
"cds_end": null,
"cds_length": 600,
"cds_start": 343,
"consequences": [
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],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000962620.1",
"gene_hgnc_id": 1581,
"gene_symbol": "CCNC",
"hgvs_c": "c.343G>A",
"hgvs_p": "p.Val115Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632679.1",
"strand": false,
"transcript": "ENST00000962620.1",
"transcript_support_level": null
},
{
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"aa_ref": "V",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2085,
"cdna_start": 408,
"cds_end": null,
"cds_length": 597,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001013399.2",
"gene_hgnc_id": 1581,
"gene_symbol": "CCNC",
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Val30Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001013417.1",
"strand": false,
"transcript": "NM_001013399.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1035,
"cdna_start": 419,
"cds_end": null,
"cds_length": 597,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000523799.5",
"gene_hgnc_id": 1581,
"gene_symbol": "CCNC",
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Val30Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430014.1",
"strand": false,
"transcript": "ENST00000523799.5",
"transcript_support_level": 3
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 198,
"aa_ref": "V",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 958,
"cdna_start": 369,
"cds_end": null,
"cds_length": 597,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000523985.5",
"gene_hgnc_id": 1581,
"gene_symbol": "CCNC",
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Val30Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430119.1",
"strand": false,
"transcript": "ENST00000523985.5",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 191,
"aa_ref": "V",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 674,
"cdna_start": 580,
"cds_end": null,
"cds_length": 578,
"cds_start": 484,
"consequences": [
"missense_variant"
],
"exon_count": 8,
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