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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: 5-177257194-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=177257194&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "NSD1",
"hgnc_id": 14234,
"hgvs_c": "c.4966+43G>T",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_022455.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 107,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.84,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8399999737739563,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2696,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13042,
"cdna_start": null,
"cds_end": null,
"cds_length": 8091,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_022455.5",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.4966+43G>T",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000439151.7",
"protein_coding": true,
"protein_id": "NP_071900.2",
"strand": true,
"transcript": "NM_022455.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2696,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 13042,
"cdna_start": null,
"cds_end": null,
"cds_length": 8091,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000439151.7",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.4966+43G>T",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_022455.5",
"protein_coding": true,
"protein_id": "ENSP00000395929.2",
"strand": true,
"transcript": "ENST00000439151.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2405,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7688,
"cdna_start": null,
"cds_end": null,
"cds_length": 7218,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000347982.9",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.4093+43G>T",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000343209.5",
"strand": true,
"transcript": "ENST00000347982.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2696,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12999,
"cdna_start": null,
"cds_end": null,
"cds_length": 8091,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001409301.1",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.4966+43G>T",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001396230.1",
"strand": true,
"transcript": "NM_001409301.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2696,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13002,
"cdna_start": null,
"cds_end": null,
"cds_length": 8091,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001409302.1",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.4966+43G>T",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001396231.1",
"strand": true,
"transcript": "NM_001409302.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2696,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12897,
"cdna_start": null,
"cds_end": null,
"cds_length": 8091,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001409303.1",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.4966+43G>T",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001396232.1",
"strand": true,
"transcript": "NM_001409303.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2696,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8554,
"cdna_start": null,
"cds_end": null,
"cds_length": 8091,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936190.1",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.4966+43G>T",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606249.1",
"strand": true,
"transcript": "ENST00000936190.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2696,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8465,
"cdna_start": null,
"cds_end": null,
"cds_length": 8091,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936191.1",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.4966+43G>T",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606250.1",
"strand": true,
"transcript": "ENST00000936191.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 2593,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8098,
"cdna_start": null,
"cds_end": null,
"cds_length": 7782,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000687453.1",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.4657+43G>T",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508426.1",
"strand": true,
"transcript": "ENST00000687453.1",
"transcript_support_level": null
},
{
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"aa_length": 2556,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12579,
"cdna_start": null,
"cds_end": null,
"cds_length": 7671,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001409304.1",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.4546+43G>T",
"hgvs_p": null,
"intron_rank": 14,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001396233.1",
"strand": true,
"transcript": "NM_001409304.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 25,
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"feature": "NM_001409305.1",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.4213+43G>T",
"hgvs_p": null,
"intron_rank": 15,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001396234.1",
"strand": true,
"transcript": "NM_001409305.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cds_end": null,
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"consequences": [
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],
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"feature": "NM_001409306.1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001396235.1",
"strand": true,
"transcript": "NM_001409306.1",
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},
{
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],
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"gene_hgnc_id": 14234,
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"protein_coding": true,
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"strand": true,
"transcript": "NM_001409307.1",
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},
{
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"consequences": [
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],
"exon_count": 24,
"exon_rank": null,
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"feature": "NM_001365684.2",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.4093+43G>T",
"hgvs_p": null,
"intron_rank": 14,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001352613.2",
"strand": true,
"transcript": "NM_001365684.2",
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},
{
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],
"exon_count": 24,
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"feature": "NM_001409308.1",
"gene_hgnc_id": 14234,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001396237.1",
"strand": true,
"transcript": "NM_001409308.1",
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},
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"consequences": [
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],
"exon_count": 24,
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"feature": "NM_172349.5",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.4093+43G>T",
"hgvs_p": null,
"intron_rank": 14,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_758859.2",
"strand": true,
"transcript": "NM_172349.5",
"transcript_support_level": null
},
{
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"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 24,
"exon_rank": null,
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"feature": "ENST00000354179.9",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.4093+43G>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000346111.5",
"strand": true,
"transcript": "ENST00000354179.9",
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},
{
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],
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"feature": "ENST00000508896.7",
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},
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],
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"feature": "ENST00000686993.1",
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},
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"consequences": [
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],
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"feature": "ENST00000689345.1",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.4093+43G>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000509711.1",
"strand": true,
"transcript": "ENST00000689345.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001409309.1",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.4093+43G>T",
"hgvs_p": null,
"intron_rank": 14,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001396238.1",
"strand": true,
"transcript": "NM_001409309.1",
"transcript_support_level": null
},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
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