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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: 1-203219564-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=203219564&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CHIT1",
"hgnc_id": 1936,
"hgvs_c": "c.915+100T>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_003465.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 736301,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.9,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8999999761581421,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 466,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2248,
"cdna_start": null,
"cds_end": null,
"cds_length": 1401,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_003465.3",
"gene_hgnc_id": 1936,
"gene_symbol": "CHIT1",
"hgvs_c": "c.915+100T>G",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000367229.6",
"protein_coding": true,
"protein_id": "NP_003456.1",
"strand": false,
"transcript": "NM_003465.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 466,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2248,
"cdna_start": null,
"cds_end": null,
"cds_length": 1401,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000367229.6",
"gene_hgnc_id": 1936,
"gene_symbol": "CHIT1",
"hgvs_c": "c.915+100T>G",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003465.3",
"protein_coding": true,
"protein_id": "ENSP00000356198.1",
"strand": false,
"transcript": "ENST00000367229.6",
"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": 1700,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000491855.5",
"gene_hgnc_id": 1936,
"gene_symbol": "CHIT1",
"hgvs_c": "n.915+100T>G",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000423778.1",
"strand": false,
"transcript": "ENST00000491855.5",
"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": 1605,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000503786.1",
"gene_hgnc_id": 1936,
"gene_symbol": "CHIT1",
"hgvs_c": "n.915+100T>G",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000421617.1",
"strand": false,
"transcript": "ENST00000503786.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 502,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1766,
"cdna_start": null,
"cds_end": null,
"cds_length": 1509,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000956207.1",
"gene_hgnc_id": 1936,
"gene_symbol": "CHIT1",
"hgvs_c": "c.915+100T>G",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626266.1",
"strand": false,
"transcript": "ENST00000956207.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 473,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1685,
"cdna_start": null,
"cds_end": null,
"cds_length": 1422,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000956204.1",
"gene_hgnc_id": 1936,
"gene_symbol": "CHIT1",
"hgvs_c": "c.915+100T>G",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626263.1",
"strand": false,
"transcript": "ENST00000956204.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 464,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1646,
"cdna_start": null,
"cds_end": null,
"cds_length": 1395,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903374.1",
"gene_hgnc_id": 1936,
"gene_symbol": "CHIT1",
"hgvs_c": "c.909+100T>G",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573433.1",
"strand": false,
"transcript": "ENST00000903374.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 459,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1644,
"cdna_start": null,
"cds_end": null,
"cds_length": 1380,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903373.1",
"gene_hgnc_id": 1936,
"gene_symbol": "CHIT1",
"hgvs_c": "c.915+100T>G",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573432.1",
"strand": false,
"transcript": "ENST00000903373.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 456,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1663,
"cdna_start": null,
"cds_end": null,
"cds_length": 1371,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000956201.1",
"gene_hgnc_id": 1936,
"gene_symbol": "CHIT1",
"hgvs_c": "c.885+100T>G",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626260.1",
"strand": false,
"transcript": "ENST00000956201.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 447,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2191,
"cdna_start": null,
"cds_end": null,
"cds_length": 1344,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001256125.2",
"gene_hgnc_id": 1936,
"gene_symbol": "CHIT1",
"hgvs_c": "c.858+100T>G",
"hgvs_p": null,
"intron_rank": 7,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001243054.2",
"strand": false,
"transcript": "NM_001256125.2",
"transcript_support_level": null
},
{
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],
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"feature": "ENST00000255427.7",
"gene_hgnc_id": 1936,
"gene_symbol": "CHIT1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000255427.3",
"strand": false,
"transcript": "ENST00000255427.7",
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},
{
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"cds_end": null,
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"feature": "ENST00000956205.1",
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},
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],
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"feature": "ENST00000956203.1",
"gene_hgnc_id": 1936,
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"hgvs_c": "c.915+100T>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000626262.1",
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"transcript": "ENST00000956203.1",
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},
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],
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"feature": "ENST00000956208.1",
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},
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"consequences": [
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],
"exon_count": 10,
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"feature": "ENST00000956202.1",
"gene_hgnc_id": 1936,
"gene_symbol": "CHIT1",
"hgvs_c": "c.730-235T>G",
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"protein_coding": true,
"protein_id": "ENSP00000626261.1",
"strand": false,
"transcript": "ENST00000956202.1",
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},
{
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"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
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"feature": "XM_047442899.1",
"gene_hgnc_id": 1936,
"gene_symbol": "CHIT1",
"hgvs_c": "c.960+100T>G",
"hgvs_p": null,
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"mane_plus": null,
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},
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],
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],
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"feature": "NR_045784.2",
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},
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],
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"feature": "NR_045785.2",
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"strand": false,
"transcript": "NR_045785.2",
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},
{
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000506427.1",
"gene_hgnc_id": 1936,
"gene_symbol": "CHIT1",
"hgvs_c": "n.*10T>G",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000506427.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs2486958",
"effect": "intron_variant",
"frequency_reference_population": 0.5350667,
"gene_hgnc_id": 1936,
"gene_symbol": "CHIT1",
"gnomad_exomes_ac": 653761,
"gnomad_exomes_af": 0.534129,
"gnomad_exomes_homalt": 181887,
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}