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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: 1-108901820-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=108901820&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "GPSM2",
"hgnc_id": 29501,
"hgvs_c": "c.828A>G",
"hgvs_p": "p.Lys276Lys",
"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.1-52244T>C",
"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.*46-19572T>C",
"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": 8298,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"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:6",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.49000000953674316,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 684,
"aa_ref": "K",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7152,
"cdna_start": 1320,
"cds_end": null,
"cds_length": 2055,
"cds_start": 828,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_013296.5",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.828A>G",
"hgvs_p": "p.Lys276Lys",
"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": "K",
"aa_end": null,
"aa_length": 684,
"aa_ref": "K",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7152,
"cdna_start": 1320,
"cds_end": null,
"cds_length": 2055,
"cds_start": 828,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000264126.9",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.828A>G",
"hgvs_p": "p.Lys276Lys",
"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": "K",
"aa_end": null,
"aa_length": 701,
"aa_ref": "K",
"aa_start": 293,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2700,
"cdna_start": 1174,
"cds_end": null,
"cds_length": 2106,
"cds_start": 879,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000674914.1",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.879A>G",
"hgvs_p": "p.Lys293Lys",
"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": "K",
"aa_end": null,
"aa_length": 701,
"aa_ref": "K",
"aa_start": 293,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2812,
"cdna_start": 1158,
"cds_end": null,
"cds_length": 2106,
"cds_start": 879,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000675087.1",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.879A>G",
"hgvs_p": "p.Lys293Lys",
"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": "K",
"aa_end": null,
"aa_length": 684,
"aa_ref": "K",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6920,
"cdna_start": 1088,
"cds_end": null,
"cds_length": 2055,
"cds_start": 828,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001321038.2",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.828A>G",
"hgvs_p": "p.Lys276Lys",
"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": "K",
"aa_end": null,
"aa_length": 684,
"aa_ref": "K",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5633,
"cdna_start": 1320,
"cds_end": null,
"cds_length": 2055,
"cds_start": 828,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001321039.3",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.828A>G",
"hgvs_p": "p.Lys276Lys",
"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": "K",
"aa_end": null,
"aa_length": 684,
"aa_ref": "K",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7433,
"cdna_start": 1601,
"cds_end": null,
"cds_length": 2055,
"cds_start": 828,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000406462.6",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.828A>G",
"hgvs_p": "p.Lys276Lys",
"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": "K",
"aa_end": null,
"aa_length": 684,
"aa_ref": "K",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3194,
"cdna_start": 1530,
"cds_end": null,
"cds_length": 2055,
"cds_start": 828,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000446797.2",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.828A>G",
"hgvs_p": "p.Lys276Lys",
"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": "K",
"aa_end": null,
"aa_length": 684,
"aa_ref": "K",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5609,
"cdna_start": 1324,
"cds_end": null,
"cds_length": 2055,
"cds_start": 828,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000642355.1",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.828A>G",
"hgvs_p": "p.Lys276Lys",
"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": "K",
"aa_end": null,
"aa_length": 684,
"aa_ref": "K",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2806,
"cdna_start": 1137,
"cds_end": null,
"cds_length": 2055,
"cds_start": 828,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000645164.2",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.828A>G",
"hgvs_p": "p.Lys276Lys",
"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": "K",
"aa_end": null,
"aa_length": 684,
"aa_ref": "K",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2741,
"cdna_start": 1077,
"cds_end": null,
"cds_length": 2055,
"cds_start": 828,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000676184.1",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.828A>G",
"hgvs_p": "p.Lys276Lys",
"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
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 684,
"aa_ref": "K",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3909,
"cdna_start": 1377,
"cds_end": null,
"cds_length": 2055,
"cds_start": 828,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000876528.1",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.828A>G",
"hgvs_p": "p.Lys276Lys",
"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": "K",
"aa_end": null,
"aa_length": 684,
"aa_ref": "K",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3179,
"cdna_start": 1491,
"cds_end": null,
"cds_length": 2055,
"cds_start": 828,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000876530.1",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.828A>G",
"hgvs_p": "p.Lys276Lys",
"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": "K",
"aa_end": null,
"aa_length": 684,
"aa_ref": "K",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3458,
"cdna_start": 1772,
"cds_end": null,
"cds_length": 2055,
"cds_start": 828,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000876531.1",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.828A>G",
"hgvs_p": "p.Lys276Lys",
"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": "K",
"aa_end": null,
"aa_length": 684,
"aa_ref": "K",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2986,
"cdna_start": 1298,
"cds_end": null,
"cds_length": 2055,
"cds_start": 828,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000876532.1",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.828A>G",
"hgvs_p": "p.Lys276Lys",
"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": "K",
"aa_end": null,
"aa_length": 684,
"aa_ref": "K",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5351,
"cdna_start": 3663,
"cds_end": null,
"cds_length": 2055,
"cds_start": 828,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000876533.1",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.828A>G",
"hgvs_p": "p.Lys276Lys",
"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
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 684,
"aa_ref": "K",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4477,
"cdna_start": 1563,
"cds_end": null,
"cds_length": 2055,
"cds_start": 828,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000942318.1",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.828A>G",
"hgvs_p": "p.Lys276Lys",
"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": "K",
"aa_end": null,
"aa_length": 684,
"aa_ref": "K",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3460,
"cdna_start": 1718,
"cds_end": null,
"cds_length": 2055,
"cds_start": 828,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000942319.1",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.828A>G",
"hgvs_p": "p.Lys276Lys",
"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": "K",
"aa_end": null,
"aa_length": 684,
"aa_ref": "K",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3320,
"cdna_start": 1611,
"cds_end": null,
"cds_length": 2055,
"cds_start": 828,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000942320.1",
"gene_hgnc_id": 29501,
"gene_symbol": "GPSM2",
"hgvs_c": "c.828A>G",
"hgvs_p": "p.Lys276Lys",
"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": "K",
"aa_end": null,
"aa_length": 684,
"aa_ref": "K",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3684,
"cdna_start": 1996,
"cds_end": null,
"cds_length": 2055,
"cds_start": 828,
"consequences": [
"synonymous_variant"
],
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],
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"feature": "ENST00000643643.1",
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"gene_symbol": "GPSM2",
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"protein_coding": true,
"protein_id": "ENSP00000495168.1",
"strand": true,
"transcript": "ENST00000643643.1",
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}
],
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"dbscsnv_ada_score": null,
"dbsnp": "rs338489",
"effect": "synonymous_variant",
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"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 316,
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"mitotip_score": null,
"pathogenicity_classification_combined": "Benign/Likely benign",
"phenotype_combined": "not specified|not provided|Chudley-McCullough syndrome",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.379,
"pos": 108901820,
"ref": "A",
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"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
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"transcript": "NM_013296.5"
}
]
}