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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: 9-113389521-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=113389521&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ALAD",
"hgnc_id": 395,
"hgvs_c": "c.805C>T",
"hgvs_p": "p.Arg269Trp",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001003945.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 17,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.6598,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.41,
"chr": "9",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Porphobilinogen synthase deficiency,not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9328473806381226,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 330,
"aa_ref": "R",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3129,
"cdna_start": 866,
"cds_end": null,
"cds_length": 993,
"cds_start": 718,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_000031.6",
"gene_hgnc_id": 395,
"gene_symbol": "ALAD",
"hgvs_c": "c.718C>T",
"hgvs_p": "p.Arg240Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000409155.8",
"protein_coding": true,
"protein_id": "NP_000022.3",
"strand": false,
"transcript": "NM_000031.6",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 330,
"aa_ref": "R",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3129,
"cdna_start": 866,
"cds_end": null,
"cds_length": 993,
"cds_start": 718,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000409155.8",
"gene_hgnc_id": 395,
"gene_symbol": "ALAD",
"hgvs_c": "c.718C>T",
"hgvs_p": "p.Arg240Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000031.6",
"protein_coding": true,
"protein_id": "ENSP00000386284.3",
"strand": false,
"transcript": "ENST00000409155.8",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 359,
"aa_ref": "R",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3295,
"cdna_start": 1032,
"cds_end": null,
"cds_length": 1080,
"cds_start": 805,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001003945.3",
"gene_hgnc_id": 395,
"gene_symbol": "ALAD",
"hgvs_c": "c.805C>T",
"hgvs_p": "p.Arg269Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001003945.1",
"strand": false,
"transcript": "NM_001003945.3",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 351,
"aa_ref": "R",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3178,
"cdna_start": 919,
"cds_end": null,
"cds_length": 1056,
"cds_start": 781,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000907374.1",
"gene_hgnc_id": 395,
"gene_symbol": "ALAD",
"hgvs_c": "c.781C>T",
"hgvs_p": "p.Arg261Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577433.1",
"strand": false,
"transcript": "ENST00000907374.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 349,
"aa_ref": "R",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3244,
"cdna_start": 982,
"cds_end": null,
"cds_length": 1050,
"cds_start": 775,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000907359.1",
"gene_hgnc_id": 395,
"gene_symbol": "ALAD",
"hgvs_c": "c.775C>T",
"hgvs_p": "p.Arg259Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577418.1",
"strand": false,
"transcript": "ENST00000907359.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 349,
"aa_ref": "R",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1284,
"cdna_start": 921,
"cds_end": null,
"cds_length": 1050,
"cds_start": 775,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000907390.1",
"gene_hgnc_id": 395,
"gene_symbol": "ALAD",
"hgvs_c": "c.775C>T",
"hgvs_p": "p.Arg259Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577449.1",
"strand": false,
"transcript": "ENST00000907390.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 339,
"aa_ref": "R",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3140,
"cdna_start": 858,
"cds_end": null,
"cds_length": 1020,
"cds_start": 718,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000907376.1",
"gene_hgnc_id": 395,
"gene_symbol": "ALAD",
"hgvs_c": "c.718C>T",
"hgvs_p": "p.Arg240Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577435.1",
"strand": false,
"transcript": "ENST00000907376.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 339,
"aa_ref": "R",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1260,
"cdna_start": 864,
"cds_end": null,
"cds_length": 1020,
"cds_start": 718,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000907389.1",
"gene_hgnc_id": 395,
"gene_symbol": "ALAD",
"hgvs_c": "c.718C>T",
"hgvs_p": "p.Arg240Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577448.1",
"strand": false,
"transcript": "ENST00000907389.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 335,
"aa_ref": "R",
"aa_start": 245,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3179,
"cdna_start": 916,
"cds_end": null,
"cds_length": 1008,
"cds_start": 733,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000954349.1",
"gene_hgnc_id": 395,
"gene_symbol": "ALAD",
"hgvs_c": "c.733C>T",
"hgvs_p": "p.Arg245Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624408.1",
"strand": false,
"transcript": "ENST00000954349.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 330,
"aa_ref": "R",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3312,
"cdna_start": 1047,
"cds_end": null,
"cds_length": 993,
"cds_start": 718,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000907358.1",
"gene_hgnc_id": 395,
"gene_symbol": "ALAD",
"hgvs_c": "c.718C>T",
"hgvs_p": "p.Arg240Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577417.1",
"strand": false,
"transcript": "ENST00000907358.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 330,
"aa_ref": "R",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3154,
"cdna_start": 883,
"cds_end": null,
"cds_length": 993,
"cds_start": 718,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000907360.1",
"gene_hgnc_id": 395,
"gene_symbol": "ALAD",
"hgvs_c": "c.718C>T",
"hgvs_p": "p.Arg240Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577419.1",
"strand": false,
"transcript": "ENST00000907360.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 330,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3306,
"cdna_start": 1038,
"cds_end": null,
"cds_length": 993,
"cds_start": 718,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000907361.1",
"gene_hgnc_id": 395,
"gene_symbol": "ALAD",
"hgvs_c": "c.718C>T",
"hgvs_p": "p.Arg240Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577420.1",
"strand": false,
"transcript": "ENST00000907361.1",
"transcript_support_level": null
},
{
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"aa_length": 330,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3379,
"cdna_start": 1116,
"cds_end": null,
"cds_length": 993,
"cds_start": 718,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000907362.1",
"gene_hgnc_id": 395,
"gene_symbol": "ALAD",
"hgvs_c": "c.718C>T",
"hgvs_p": "p.Arg240Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577421.1",
"strand": false,
"transcript": "ENST00000907362.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 330,
"aa_ref": "R",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3277,
"cdna_start": 1015,
"cds_end": null,
"cds_length": 993,
"cds_start": 718,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000907363.1",
"gene_hgnc_id": 395,
"gene_symbol": "ALAD",
"hgvs_c": "c.718C>T",
"hgvs_p": "p.Arg240Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577422.1",
"strand": false,
"transcript": "ENST00000907363.1",
"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": 3184,
"cdna_start": 920,
"cds_end": null,
"cds_length": 993,
"cds_start": 718,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000907364.1",
"gene_hgnc_id": 395,
"gene_symbol": "ALAD",
"hgvs_c": "c.718C>T",
"hgvs_p": "p.Arg240Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577423.1",
"strand": false,
"transcript": "ENST00000907364.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 330,
"aa_ref": "R",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3222,
"cdna_start": 953,
"cds_end": null,
"cds_length": 993,
"cds_start": 718,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000907366.1",
"gene_hgnc_id": 395,
"gene_symbol": "ALAD",
"hgvs_c": "c.718C>T",
"hgvs_p": "p.Arg240Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577425.1",
"strand": false,
"transcript": "ENST00000907366.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 330,
"aa_ref": "R",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3249,
"cdna_start": 985,
"cds_end": null,
"cds_length": 993,
"cds_start": 718,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000907368.1",
"gene_hgnc_id": 395,
"gene_symbol": "ALAD",
"hgvs_c": "c.718C>T",
"hgvs_p": "p.Arg240Trp",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000577427.1",
"strand": false,
"transcript": "ENST00000907368.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": 1059,
"cds_end": null,
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"cds_start": 718,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000907370.1",
"gene_hgnc_id": 395,
"gene_symbol": "ALAD",
"hgvs_c": "c.718C>T",
"hgvs_p": "p.Arg240Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577429.1",
"strand": false,
"transcript": "ENST00000907370.1",
"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": 3263,
"cdna_start": 1003,
"cds_end": null,
"cds_length": 993,
"cds_start": 718,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000907371.1",
"gene_hgnc_id": 395,
"gene_symbol": "ALAD",
"hgvs_c": "c.718C>T",
"hgvs_p": "p.Arg240Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577430.1",
"strand": false,
"transcript": "ENST00000907371.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 330,
"aa_ref": "R",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3200,
"cdna_start": 937,
"cds_end": null,
"cds_length": 993,
"cds_start": 718,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000907372.1",
"gene_hgnc_id": 395,
"gene_symbol": "ALAD",
"hgvs_c": "c.718C>T",
"hgvs_p": "p.Arg240Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577431.1",
"strand": false,
"transcript": "ENST00000907372.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 330,
"aa_ref": "R",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3178,
"cdna_start": 915,
"cds_end": null,
"cds_length": 993,
"cds_start": 718,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000907373.1",
"gene_hgnc_id": 395,
"gene_symbol": "ALAD",
"hgvs_c": "c.718C>T",
"hgvs_p": "p.Arg240Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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