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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: 21-44910275-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=44910275&ref=G&alt=C&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": "ITGB2",
"hgnc_id": 6155,
"hgvs_c": "c.147+9C>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_000211.5",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "LOC107987303",
"hgnc_id": null,
"hgvs_c": "n.-1C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "XR_001755083.2",
"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": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.82,
"chr": "21",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8199999928474426,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 769,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2807,
"cdna_start": null,
"cds_end": null,
"cds_length": 2310,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000211.5",
"gene_hgnc_id": 6155,
"gene_symbol": "ITGB2",
"hgvs_c": "c.147+9C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000652462.1",
"protein_coding": true,
"protein_id": "NP_000202.3",
"strand": false,
"transcript": "NM_000211.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 769,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2807,
"cdna_start": null,
"cds_end": null,
"cds_length": 2310,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000652462.1",
"gene_hgnc_id": 6155,
"gene_symbol": "ITGB2",
"hgvs_c": "c.147+9C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000211.5",
"protein_coding": true,
"protein_id": "ENSP00000498780.1",
"strand": false,
"transcript": "ENST00000652462.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 793,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2867,
"cdna_start": null,
"cds_end": null,
"cds_length": 2382,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000302347.10",
"gene_hgnc_id": 6155,
"gene_symbol": "ITGB2",
"hgvs_c": "c.147+9C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000303242.6",
"strand": false,
"transcript": "ENST00000302347.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 769,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2769,
"cdna_start": null,
"cds_end": null,
"cds_length": 2310,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000397852.5",
"gene_hgnc_id": 6155,
"gene_symbol": "ITGB2",
"hgvs_c": "c.147+9C>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380950.1",
"strand": false,
"transcript": "ENST00000397852.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 712,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2592,
"cdna_start": null,
"cds_end": null,
"cds_length": 2139,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000397854.7",
"gene_hgnc_id": 6155,
"gene_symbol": "ITGB2",
"hgvs_c": "c.147+9C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380952.3",
"strand": false,
"transcript": "ENST00000397854.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4781,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000498666.5",
"gene_hgnc_id": 6155,
"gene_symbol": "ITGB2",
"hgvs_c": "n.290+9C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000498666.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 769,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2890,
"cdna_start": null,
"cds_end": null,
"cds_length": 2310,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001127491.3",
"gene_hgnc_id": 6155,
"gene_symbol": "ITGB2",
"hgvs_c": "c.147+9C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001120963.2",
"strand": false,
"transcript": "NM_001127491.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 769,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2913,
"cdna_start": null,
"cds_end": null,
"cds_length": 2310,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000355153.8",
"gene_hgnc_id": 6155,
"gene_symbol": "ITGB2",
"hgvs_c": "c.147+9C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000347279.4",
"strand": false,
"transcript": "ENST00000355153.8",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 769,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3178,
"cdna_start": null,
"cds_end": null,
"cds_length": 2310,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000397850.6",
"gene_hgnc_id": 6155,
"gene_symbol": "ITGB2",
"hgvs_c": "c.147+9C>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380948.2",
"strand": false,
"transcript": "ENST00000397850.6",
"transcript_support_level": 5
},
{
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"aa_end": null,
"aa_length": 769,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2813,
"cdna_start": null,
"cds_end": null,
"cds_length": 2310,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000397857.5",
"gene_hgnc_id": 6155,
"gene_symbol": "ITGB2",
"hgvs_c": "c.147+9C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380955.1",
"strand": false,
"transcript": "ENST00000397857.5",
"transcript_support_level": 5
},
{
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"aa_end": null,
"aa_length": 769,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2999,
"cdna_start": null,
"cds_end": null,
"cds_length": 2310,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
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"feature": "ENST00000909411.1",
"gene_hgnc_id": 6155,
"gene_symbol": "ITGB2",
"hgvs_c": "c.147+9C>G",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579470.1",
"strand": false,
"transcript": "ENST00000909411.1",
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},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 3150,
"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 16,
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"feature": "ENST00000909413.1",
"gene_hgnc_id": 6155,
"gene_symbol": "ITGB2",
"hgvs_c": "c.147+9C>G",
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"intron_rank": 3,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000579472.1",
"strand": false,
"transcript": "ENST00000909413.1",
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},
{
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"consequences": [
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],
"exon_count": 16,
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"feature": "ENST00000909414.1",
"gene_hgnc_id": 6155,
"gene_symbol": "ITGB2",
"hgvs_c": "c.147+9C>G",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579473.1",
"strand": false,
"transcript": "ENST00000909414.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
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"consequences": [
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],
"exon_count": 16,
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"feature": "ENST00000909415.1",
"gene_hgnc_id": 6155,
"gene_symbol": "ITGB2",
"hgvs_c": "c.147+9C>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000579474.1",
"strand": false,
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},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 16,
"exon_rank": null,
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"feature": "ENST00000909416.1",
"gene_hgnc_id": 6155,
"gene_symbol": "ITGB2",
"hgvs_c": "c.147+9C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579475.1",
"strand": false,
"transcript": "ENST00000909416.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 16,
"exon_rank": null,
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"feature": "ENST00000909417.1",
"gene_hgnc_id": 6155,
"gene_symbol": "ITGB2",
"hgvs_c": "c.147+9C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579476.1",
"strand": false,
"transcript": "ENST00000909417.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"consequences": [
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],
"exon_count": 16,
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"feature": "ENST00000909418.1",
"gene_hgnc_id": 6155,
"gene_symbol": "ITGB2",
"hgvs_c": "c.147+9C>G",
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"protein_coding": true,
"protein_id": "ENSP00000579477.1",
"strand": false,
"transcript": "ENST00000909418.1",
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},
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"consequences": [
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],
"exon_count": 16,
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"feature": "ENST00000909419.1",
"gene_hgnc_id": 6155,
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"hgvs_c": "c.147+9C>G",
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"protein_coding": true,
"protein_id": "ENSP00000579478.1",
"strand": false,
"transcript": "ENST00000909419.1",
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},
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"consequences": [
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],
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"feature": "ENST00000909420.1",
"gene_hgnc_id": 6155,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000579479.1",
"strand": false,
"transcript": "ENST00000909420.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909421.1",
"gene_hgnc_id": 6155,
"gene_symbol": "ITGB2",
"hgvs_c": "c.147+9C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579480.1",
"strand": false,
"transcript": "ENST00000909421.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 2310,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961802.1",
"gene_hgnc_id": 6155,
"gene_symbol": "ITGB2",
"hgvs_c": "c.147+9C>G",
"hgvs_p": null,
"intron_rank": 3,
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