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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: 3-124841442-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=124841442&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"PP3",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ITGB5",
"hgnc_id": 6160,
"hgvs_c": "c.721C>T",
"hgvs_p": "p.Arg241Trp",
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 2,
"transcript": "NM_002213.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3,BP4",
"acmg_score": 2,
"allele_count_reference_population": 194,
"alphamissense_prediction": null,
"alphamissense_score": 0.8955,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.43,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3146195411682129,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 799,
"aa_ref": "R",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4440,
"cdna_start": 1086,
"cds_end": null,
"cds_length": 2400,
"cds_start": 721,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_002213.5",
"gene_hgnc_id": 6160,
"gene_symbol": "ITGB5",
"hgvs_c": "c.721C>T",
"hgvs_p": "p.Arg241Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000296181.9",
"protein_coding": true,
"protein_id": "NP_002204.2",
"strand": false,
"transcript": "NM_002213.5",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 799,
"aa_ref": "R",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4440,
"cdna_start": 1086,
"cds_end": null,
"cds_length": 2400,
"cds_start": 721,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000296181.9",
"gene_hgnc_id": 6160,
"gene_symbol": "ITGB5",
"hgvs_c": "c.721C>T",
"hgvs_p": "p.Arg241Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002213.5",
"protein_coding": true,
"protein_id": "ENSP00000296181.4",
"strand": false,
"transcript": "ENST00000296181.9",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 873,
"aa_ref": "R",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4628,
"cdna_start": 1058,
"cds_end": null,
"cds_length": 2622,
"cds_start": 721,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000905025.1",
"gene_hgnc_id": 6160,
"gene_symbol": "ITGB5",
"hgvs_c": "c.721C>T",
"hgvs_p": "p.Arg241Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575084.1",
"strand": false,
"transcript": "ENST00000905025.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 837,
"aa_ref": "R",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3627,
"cdna_start": 1161,
"cds_end": null,
"cds_length": 2514,
"cds_start": 721,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000965613.1",
"gene_hgnc_id": 6160,
"gene_symbol": "ITGB5",
"hgvs_c": "c.721C>T",
"hgvs_p": "p.Arg241Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635672.1",
"strand": false,
"transcript": "ENST00000965613.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 814,
"aa_ref": "R",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3191,
"cdna_start": 1007,
"cds_end": null,
"cds_length": 2445,
"cds_start": 721,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000965616.1",
"gene_hgnc_id": 6160,
"gene_symbol": "ITGB5",
"hgvs_c": "c.721C>T",
"hgvs_p": "p.Arg241Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635675.1",
"strand": false,
"transcript": "ENST00000965616.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 798,
"aa_ref": "R",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4693,
"cdna_start": 1342,
"cds_end": null,
"cds_length": 2397,
"cds_start": 721,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000935896.1",
"gene_hgnc_id": 6160,
"gene_symbol": "ITGB5",
"hgvs_c": "c.721C>T",
"hgvs_p": "p.Arg241Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605955.1",
"strand": false,
"transcript": "ENST00000935896.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 797,
"aa_ref": "R",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3563,
"cdna_start": 1217,
"cds_end": null,
"cds_length": 2394,
"cds_start": 721,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000935903.1",
"gene_hgnc_id": 6160,
"gene_symbol": "ITGB5",
"hgvs_c": "c.721C>T",
"hgvs_p": "p.Arg241Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605962.1",
"strand": false,
"transcript": "ENST00000935903.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 797,
"aa_ref": "R",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3314,
"cdna_start": 1181,
"cds_end": null,
"cds_length": 2394,
"cds_start": 721,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000965615.1",
"gene_hgnc_id": 6160,
"gene_symbol": "ITGB5",
"hgvs_c": "c.721C>T",
"hgvs_p": "p.Arg241Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635674.1",
"strand": false,
"transcript": "ENST00000965615.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 791,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3496,
"cdna_start": 1142,
"cds_end": null,
"cds_length": 2376,
"cds_start": 697,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000935905.1",
"gene_hgnc_id": 6160,
"gene_symbol": "ITGB5",
"hgvs_c": "c.697C>T",
"hgvs_p": "p.Arg233Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605964.1",
"strand": false,
"transcript": "ENST00000935905.1",
"transcript_support_level": null
},
{
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"aa_length": 767,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3656,
"cdna_start": 1398,
"cds_end": null,
"cds_length": 2304,
"cds_start": 721,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
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"feature": "ENST00000935898.1",
"gene_hgnc_id": 6160,
"gene_symbol": "ITGB5",
"hgvs_c": "c.721C>T",
"hgvs_p": "p.Arg241Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605957.1",
"strand": false,
"transcript": "ENST00000935898.1",
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},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3401,
"cdna_start": 1170,
"cds_end": null,
"cds_length": 2280,
"cds_start": 721,
"consequences": [
"missense_variant"
],
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"feature": "ENST00000965612.1",
"gene_hgnc_id": 6160,
"gene_symbol": "ITGB5",
"hgvs_c": "c.721C>T",
"hgvs_p": "p.Arg241Trp",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000635671.1",
"strand": false,
"transcript": "ENST00000965612.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": 1079,
"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000935909.1",
"gene_hgnc_id": 6160,
"gene_symbol": "ITGB5",
"hgvs_c": "c.721C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000605968.1",
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"transcript": "ENST00000935909.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000935906.1",
"gene_hgnc_id": 6160,
"gene_symbol": "ITGB5",
"hgvs_c": "c.553C>T",
"hgvs_p": "p.Arg185Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605965.1",
"strand": false,
"transcript": "ENST00000935906.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 765,
"cds_end": null,
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"consequences": [
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],
"exon_count": 13,
"exon_rank": 5,
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"feature": "ENST00000905026.1",
"gene_hgnc_id": 6160,
"gene_symbol": "ITGB5",
"hgvs_c": "c.721C>T",
"hgvs_p": "p.Arg241Trp",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000575085.1",
"strand": false,
"transcript": "ENST00000905026.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000935895.1",
"gene_hgnc_id": 6160,
"gene_symbol": "ITGB5",
"hgvs_c": "c.721C>T",
"hgvs_p": "p.Arg241Trp",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000605954.1",
"strand": false,
"transcript": "ENST00000935895.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": 734,
"cds_end": null,
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"consequences": [
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],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000965617.1",
"gene_hgnc_id": 6160,
"gene_symbol": "ITGB5",
"hgvs_c": "c.721C>T",
"hgvs_p": "p.Arg241Trp",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635676.1",
"strand": false,
"transcript": "ENST00000965617.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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],
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"feature": "ENST00000935908.1",
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"protein_id": "ENSP00000605967.1",
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},
{
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],
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"feature": "ENST00000935899.1",
"gene_hgnc_id": 6160,
"gene_symbol": "ITGB5",
"hgvs_c": "c.721C>T",
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"protein_coding": true,
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"transcript": "ENST00000935899.1",
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},
{
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"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000965614.1",
"gene_hgnc_id": 6160,
"gene_symbol": "ITGB5",
"hgvs_c": "c.721C>T",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635673.1",
"strand": false,
"transcript": "ENST00000965614.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 1053,
"cds_end": null,
"cds_length": 2109,
"cds_start": 430,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000935902.1",
"gene_hgnc_id": 6160,
"gene_symbol": "ITGB5",
"hgvs_c": "c.430C>T",
"hgvs_p": "p.Arg144Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605961.1",
"strand": false,
"transcript": "ENST00000935902.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3418,
"cdna_start": 1385,
"cds_end": null,
"cds_length": 2079,
"cds_start": 721,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000935900.1",
"gene_hgnc_id": 6160,
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