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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: 1-108897593-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=108897593&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GPSM2",
"hgnc_id": 29501,
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_013296.5",
"verdict": "Benign"
},
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "AKNAD1",
"hgnc_id": 28398,
"hgvs_c": "c.1-48017C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "ENST00000357393.6",
"verdict": "Benign"
},
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CLCC1",
"hgnc_id": 29675,
"hgvs_c": "c.*46-15345C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "ENST00000690509.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 148932,
"alphamissense_prediction": null,
"alphamissense_score": 0.5761,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.02,
"chr": "1",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Chudley-McCullough syndrome,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:5",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.008746743202209473,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 684,
"aa_ref": "R",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7152,
"cdna_start": 872,
"cds_end": null,
"cds_length": 2055,
"cds_start": 380,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_013296.5",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000264126.9",
"protein_coding": true,
"protein_id": "NP_037428.3",
"strand": true,
"transcript": "NM_013296.5",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 684,
"aa_ref": "R",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7152,
"cdna_start": 872,
"cds_end": null,
"cds_length": 2055,
"cds_start": 380,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000264126.9",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_013296.5",
"protein_coding": true,
"protein_id": "ENSP00000264126.3",
"strand": true,
"transcript": "ENST00000264126.9",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 701,
"aa_ref": "R",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2700,
"cdna_start": 726,
"cds_end": null,
"cds_length": 2106,
"cds_start": 431,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000674914.1",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.431G>A",
"hgvs_p": "p.Arg144Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501579.1",
"strand": true,
"transcript": "ENST00000674914.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 701,
"aa_ref": "R",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2812,
"cdna_start": 710,
"cds_end": null,
"cds_length": 2106,
"cds_start": 431,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000675087.1",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.431G>A",
"hgvs_p": "p.Arg144Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502020.1",
"strand": true,
"transcript": "ENST00000675087.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 684,
"aa_ref": "R",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6920,
"cdna_start": 640,
"cds_end": null,
"cds_length": 2055,
"cds_start": 380,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001321038.2",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307967.1",
"strand": true,
"transcript": "NM_001321038.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 684,
"aa_ref": "R",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5633,
"cdna_start": 872,
"cds_end": null,
"cds_length": 2055,
"cds_start": 380,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001321039.3",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307968.1",
"strand": true,
"transcript": "NM_001321039.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 684,
"aa_ref": "R",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7433,
"cdna_start": 1153,
"cds_end": null,
"cds_length": 2055,
"cds_start": 380,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000406462.6",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385510.1",
"strand": true,
"transcript": "ENST00000406462.6",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 684,
"aa_ref": "R",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3194,
"cdna_start": 1082,
"cds_end": null,
"cds_length": 2055,
"cds_start": 380,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000446797.2",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392138.2",
"strand": true,
"transcript": "ENST00000446797.2",
"transcript_support_level": 4
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 684,
"aa_ref": "R",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5609,
"cdna_start": 876,
"cds_end": null,
"cds_length": 2055,
"cds_start": 380,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000642355.1",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496104.1",
"strand": true,
"transcript": "ENST00000642355.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 684,
"aa_ref": "R",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2806,
"cdna_start": 689,
"cds_end": null,
"cds_length": 2055,
"cds_start": 380,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000645164.2",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496756.2",
"strand": true,
"transcript": "ENST00000645164.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 684,
"aa_ref": "R",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2741,
"cdna_start": 629,
"cds_end": null,
"cds_length": 2055,
"cds_start": 380,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000676184.1",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502178.1",
"strand": true,
"transcript": "ENST00000676184.1",
"transcript_support_level": null
},
{
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"aa_length": 684,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3909,
"cdna_start": 929,
"cds_end": null,
"cds_length": 2055,
"cds_start": 380,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000876528.1",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546587.1",
"strand": true,
"transcript": "ENST00000876528.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 684,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3179,
"cdna_start": 1043,
"cds_end": null,
"cds_length": 2055,
"cds_start": 380,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000876530.1",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546589.1",
"strand": true,
"transcript": "ENST00000876530.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3458,
"cdna_start": 1324,
"cds_end": null,
"cds_length": 2055,
"cds_start": 380,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000876531.1",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546590.1",
"strand": true,
"transcript": "ENST00000876531.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 684,
"aa_ref": "R",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2986,
"cdna_start": 850,
"cds_end": null,
"cds_length": 2055,
"cds_start": 380,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000876532.1",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546591.1",
"strand": true,
"transcript": "ENST00000876532.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 684,
"aa_ref": "R",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5351,
"cdna_start": 3215,
"cds_end": null,
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"cds_start": 380,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000876533.1",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546592.1",
"strand": true,
"transcript": "ENST00000876533.1",
"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,
"cdna_length": 4477,
"cdna_start": 1115,
"cds_end": null,
"cds_length": 2055,
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"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000942318.1",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612377.1",
"strand": true,
"transcript": "ENST00000942318.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3460,
"cdna_start": 1270,
"cds_end": null,
"cds_length": 2055,
"cds_start": 380,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000942319.1",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612378.1",
"strand": true,
"transcript": "ENST00000942319.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 684,
"aa_ref": "R",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3320,
"cdna_start": 1163,
"cds_end": null,
"cds_length": 2055,
"cds_start": 380,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000942320.1",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612379.1",
"strand": true,
"transcript": "ENST00000942320.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 684,
"aa_ref": "R",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3684,
"cdna_start": 1548,
"cds_end": null,
"cds_length": 2055,
"cds_start": 380,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000942321.1",
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}
],
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"pathogenicity_classification_combined": "Benign/Likely benign",
"phenotype_combined": "not specified|Chudley-McCullough syndrome|not provided",
"phylop100way_prediction": "Pathogenic",
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"ref": "G",
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"splice_prediction_selected": "Benign",
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}
]
}