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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: 7-97872320-C-CGCAGGGCGCGGGGCGCGGGGC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=97872320&ref=C&alt=CGCAGGGCGCGGGGCGCGGGGC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "ASNS",
"hgnc_id": 753,
"hgvs_c": "c.-60+40_-60+41insCCGCGCCCTGCGCCCCGCGCC",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001673.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000297732",
"hgnc_id": null,
"hgvs_c": "n.123_124insGCGGGGCGCGGGGCGCAGGGC",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000750621.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "CZ1P-ASNS",
"hgnc_id": null,
"hgvs_c": "n.1571-2498_1571-2497insCCGCGCCCTGCGCCCCGCGCC",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NR_147989.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000284707",
"hgnc_id": null,
"hgvs_c": "n.331-3235_331-3234insCCGCGCCCTGCGCCCCGCGCC",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000641315.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TGGCGCGGGGCGCAGGGCGCGG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "7",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 561,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2385,
"cdna_start": null,
"cds_end": null,
"cds_length": 1686,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001673.5",
"gene_hgnc_id": 753,
"gene_symbol": "ASNS",
"hgvs_c": "c.-60+40_-60+41insCCGCGCCCTGCGCCCCGCGCC",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000394308.8",
"protein_coding": true,
"protein_id": "NP_001664.3",
"strand": false,
"transcript": "NM_001673.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 561,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2385,
"cdna_start": null,
"cds_end": null,
"cds_length": 1686,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000394308.8",
"gene_hgnc_id": 753,
"gene_symbol": "ASNS",
"hgvs_c": "c.-60+40_-60+41insCCGCGCCCTGCGCCCCGCGCC",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001673.5",
"protein_coding": true,
"protein_id": "ENSP00000377845.3",
"strand": false,
"transcript": "ENST00000394308.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 561,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2356,
"cdna_start": null,
"cds_end": null,
"cds_length": 1686,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000175506.8",
"gene_hgnc_id": 753,
"gene_symbol": "ASNS",
"hgvs_c": "c.-338+40_-338+41insCCGCGCCCTGCGCCCCGCGCC",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000175506.4",
"strand": false,
"transcript": "ENST00000175506.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 577,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1980,
"cdna_start": null,
"cds_end": null,
"cds_length": 1734,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000931349.1",
"gene_hgnc_id": 753,
"gene_symbol": "ASNS",
"hgvs_c": "c.-60+40_-60+41insCCGCGCCCTGCGCCCCGCGCC",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601408.1",
"strand": false,
"transcript": "ENST00000931349.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 562,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1979,
"cdna_start": null,
"cds_end": null,
"cds_length": 1689,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884569.1",
"gene_hgnc_id": 753,
"gene_symbol": "ASNS",
"hgvs_c": "c.-60+40_-60+41insCCGCGCCCTGCGCCCCGCGCC",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554628.1",
"strand": false,
"transcript": "ENST00000884569.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 561,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2786,
"cdna_start": null,
"cds_end": null,
"cds_length": 1686,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001352496.2",
"gene_hgnc_id": 753,
"gene_symbol": "ASNS",
"hgvs_c": "c.-60+40_-60+41insCCGCGCCCTGCGCCCCGCGCC",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339425.1",
"strand": false,
"transcript": "NM_001352496.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 561,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2663,
"cdna_start": null,
"cds_end": null,
"cds_length": 1686,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_183356.4",
"gene_hgnc_id": 753,
"gene_symbol": "ASNS",
"hgvs_c": "c.-338+40_-338+41insCCGCGCCCTGCGCCCCGCGCC",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_899199.2",
"strand": false,
"transcript": "NM_183356.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 561,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1975,
"cdna_start": null,
"cds_end": null,
"cds_length": 1686,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884568.1",
"gene_hgnc_id": 753,
"gene_symbol": "ASNS",
"hgvs_c": "c.-24+40_-24+41insCCGCGCCCTGCGCCCCGCGCC",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554627.1",
"strand": false,
"transcript": "ENST00000884568.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1978,
"cdna_start": null,
"cds_end": null,
"cds_length": 1686,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000931343.1",
"gene_hgnc_id": 753,
"gene_symbol": "ASNS",
"hgvs_c": "c.-60+132_-60+133insCCGCGCCCTGCGCCCCGCGCC",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000601402.1",
"strand": false,
"transcript": "ENST00000931343.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2004,
"cdna_start": null,
"cds_end": null,
"cds_length": 1686,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
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"feature": "ENST00000931345.1",
"gene_hgnc_id": 753,
"gene_symbol": "ASNS",
"hgvs_c": "c.-56+40_-56+41insCCGCGCCCTGCGCCCCGCGCC",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000601404.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000931346.1",
"gene_hgnc_id": 753,
"gene_symbol": "ASNS",
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},
{
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],
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"feature": "ENST00000968225.1",
"gene_hgnc_id": 753,
"gene_symbol": "ASNS",
"hgvs_c": "c.-658+40_-658+41insCCGCGCCCTGCGCCCCGCGCC",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000638284.1",
"strand": false,
"transcript": "ENST00000968225.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000931344.1",
"gene_hgnc_id": 753,
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},
{
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],
"exon_count": 13,
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"feature": "NM_001178075.2",
"gene_hgnc_id": 753,
"gene_symbol": "ASNS",
"hgvs_c": "c.-49+40_-49+41insCCGCGCCCTGCGCCCCGCGCC",
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"protein_coding": true,
"protein_id": "NP_001171546.1",
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"transcript": "NM_001178075.2",
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},
{
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"cdna_end": null,
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"consequences": [
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],
"exon_count": 12,
"exon_rank": null,
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"feature": "ENST00000422745.5",
"gene_hgnc_id": 753,
"gene_symbol": "ASNS",
"hgvs_c": "c.-13+40_-13+41insCCGCGCCCTGCGCCCCGCGCC",
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"protein_coding": true,
"protein_id": "ENSP00000414901.1",
"strand": false,
"transcript": "ENST00000422745.5",
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},
{
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],
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"feature": "ENST00000444334.5",
"gene_hgnc_id": 753,
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"hgvs_c": "c.-49+40_-49+41insCCGCGCCCTGCGCCCCGCGCC",
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],
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},
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"consequences": [
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],
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"feature": "NM_001178076.2",
"gene_hgnc_id": 753,
"gene_symbol": "ASNS",
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"protein_coding": true,
"protein_id": "NP_001171547.1",
"strand": false,
"transcript": "NM_001178076.2",
"transcript_support_level": null
},
{
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
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"feature": "ENST00000455086.5",
"gene_hgnc_id": 753,
"gene_symbol": "ASNS",
"hgvs_c": "c.-1+40_-1+41insCCGCGCCCTGCGCCCCGCGCC",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000408472.1",
"strand": false,
"transcript": "ENST00000455086.5",
"transcript_support_level": 2
},
{
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"cds_start": null,
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