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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: 17-63488629-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=63488629&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ACE",
"hgnc_id": 2707,
"hgvs_c": "c.2306-19G>T",
"hgvs_p": null,
"inheritance_mode": "Unknown,AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_000789.4",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000264813",
"hgnc_id": null,
"hgvs_c": "n.584-19G>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000577647.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.84,
"chr": "17",
"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": 1306,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4962,
"cdna_start": null,
"cds_end": null,
"cds_length": 3921,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000789.4",
"gene_hgnc_id": 2707,
"gene_symbol": "ACE",
"hgvs_c": "c.2306-19G>T",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000290866.10",
"protein_coding": true,
"protein_id": "NP_000780.1",
"strand": true,
"transcript": "NM_000789.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1306,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4962,
"cdna_start": null,
"cds_end": null,
"cds_length": 3921,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000290866.10",
"gene_hgnc_id": 2707,
"gene_symbol": "ACE",
"hgvs_c": "c.2306-19G>T",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000789.4",
"protein_coding": true,
"protein_id": "ENSP00000290866.4",
"strand": true,
"transcript": "ENST00000290866.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 732,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2479,
"cdna_start": null,
"cds_end": null,
"cds_length": 2199,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000290863.10",
"gene_hgnc_id": 2707,
"gene_symbol": "ACE",
"hgvs_c": "c.584-19G>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000290863.6",
"strand": true,
"transcript": "ENST00000290863.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 4862,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000577647.2",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000264813",
"hgvs_c": "n.584-19G>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000464149.1",
"strand": true,
"transcript": "ENST00000577647.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1314,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4235,
"cdna_start": null,
"cds_end": null,
"cds_length": 3945,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000953328.1",
"gene_hgnc_id": 2707,
"gene_symbol": "ACE",
"hgvs_c": "c.2306-19G>T",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623387.1",
"strand": true,
"transcript": "ENST00000953328.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1312,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4229,
"cdna_start": null,
"cds_end": null,
"cds_length": 3939,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884279.1",
"gene_hgnc_id": 2707,
"gene_symbol": "ACE",
"hgvs_c": "c.2306-19G>T",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554338.1",
"strand": true,
"transcript": "ENST00000884279.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1303,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4195,
"cdna_start": null,
"cds_end": null,
"cds_length": 3912,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884281.1",
"gene_hgnc_id": 2707,
"gene_symbol": "ACE",
"hgvs_c": "c.2306-19G>T",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554340.1",
"strand": true,
"transcript": "ENST00000884281.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1273,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4109,
"cdna_start": null,
"cds_end": null,
"cds_length": 3822,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884280.1",
"gene_hgnc_id": 2707,
"gene_symbol": "ACE",
"hgvs_c": "c.2306-19G>T",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554339.1",
"strand": true,
"transcript": "ENST00000884280.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 1265,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4845,
"cdna_start": null,
"cds_end": null,
"cds_length": 3798,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884274.1",
"gene_hgnc_id": 2707,
"gene_symbol": "ACE",
"hgvs_c": "c.2306-19G>T",
"hgvs_p": null,
"intron_rank": 15,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554333.1",
"strand": true,
"transcript": "ENST00000884274.1",
"transcript_support_level": null
},
{
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"aa_length": 1265,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4089,
"cdna_start": null,
"cds_end": null,
"cds_length": 3798,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
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"feature": "ENST00000884278.1",
"gene_hgnc_id": 2707,
"gene_symbol": "ACE",
"hgvs_c": "c.2183-19G>T",
"hgvs_p": null,
"intron_rank": 14,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554337.1",
"strand": true,
"transcript": "ENST00000884278.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_length": 5120,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
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"feature": "ENST00000428043.5",
"gene_hgnc_id": 2707,
"gene_symbol": "ACE",
"hgvs_c": "c.2306-19G>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000397593.2",
"strand": true,
"transcript": "ENST00000428043.5",
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},
{
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],
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"feature": "ENST00000884275.1",
"gene_hgnc_id": 2707,
"gene_symbol": "ACE",
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"mane_plus": null,
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"protein_coding": true,
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"strand": true,
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},
{
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],
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"feature": "ENST00000884276.1",
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"hgvs_c": "c.2306-19G>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000554335.1",
"strand": true,
"transcript": "ENST00000884276.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 23,
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"feature": "ENST00000884277.1",
"gene_hgnc_id": 2707,
"gene_symbol": "ACE",
"hgvs_c": "c.1937-19G>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000554336.1",
"strand": true,
"transcript": "ENST00000884277.1",
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},
{
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"consequences": [
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],
"exon_count": 22,
"exon_rank": null,
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"feature": "NM_001382700.1",
"gene_hgnc_id": 2707,
"gene_symbol": "ACE",
"hgvs_c": "c.1739-19G>T",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369629.1",
"strand": true,
"transcript": "NM_001382700.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 23,
"exon_rank": null,
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"feature": "NM_001382701.1",
"gene_hgnc_id": 2707,
"gene_symbol": "ACE",
"hgvs_c": "c.1454-19G>T",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001369630.1",
"strand": true,
"transcript": "NM_001382701.1",
"transcript_support_level": null
},
{
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"canonical": false,
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"consequences": [
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],
"exon_count": 14,
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"feature": "NM_152830.3",
"gene_hgnc_id": 2707,
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"protein_coding": true,
"protein_id": "NP_690043.1",
"strand": true,
"transcript": "NM_152830.3",
"transcript_support_level": null
},
{
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],
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"feature": "NM_001178057.2",
"gene_hgnc_id": 2707,
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"hgvs_c": "c.584-19G>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001171528.1",
"strand": true,
"transcript": "NM_001178057.2",
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},
{
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"consequences": [
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],
"exon_count": 13,
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"feature": "ENST00000413513.7",
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"protein_coding": true,
"protein_id": "ENSP00000392247.3",
"strand": true,
"transcript": "ENST00000413513.7",
"transcript_support_level": 2
},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001382702.1",
"gene_hgnc_id": 2707,
"gene_symbol": "ACE",
"hgvs_c": "c.236-19G>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369631.1",
"strand": true,
"transcript": "NM_001382702.1",
"transcript_support_level": null
},
{
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"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 846,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000582761.1",
"gene_hgnc_id": 2707,
"gene_symbol": "ACE",
"hgvs_c": "c.74-19G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
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