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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: 11-9728080-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=9728080&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "SWAP70",
"hgnc_id": 17070,
"hgvs_c": "c.670C>A",
"hgvs_p": "p.Arg224Arg",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_015055.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4,BP7",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.14,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.14000000059604645,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 585,
"aa_ref": "R",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4884,
"cdna_start": 773,
"cds_end": null,
"cds_length": 1758,
"cds_start": 670,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_015055.4",
"gene_hgnc_id": 17070,
"gene_symbol": "SWAP70",
"hgvs_c": "c.670C>A",
"hgvs_p": "p.Arg224Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000318950.11",
"protein_coding": true,
"protein_id": "NP_055870.2",
"strand": true,
"transcript": "NM_015055.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 585,
"aa_ref": "R",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4884,
"cdna_start": 773,
"cds_end": null,
"cds_length": 1758,
"cds_start": 670,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000318950.11",
"gene_hgnc_id": 17070,
"gene_symbol": "SWAP70",
"hgvs_c": "c.670C>A",
"hgvs_p": "p.Arg224Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015055.4",
"protein_coding": true,
"protein_id": "ENSP00000315630.6",
"strand": true,
"transcript": "ENST00000318950.11",
"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": 3006,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000524817.5",
"gene_hgnc_id": 17070,
"gene_symbol": "SWAP70",
"hgvs_c": "n.715C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000524817.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 549,
"aa_ref": "R",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2250,
"cdna_start": 763,
"cds_end": null,
"cds_length": 1650,
"cds_start": 670,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000868909.1",
"gene_hgnc_id": 17070,
"gene_symbol": "SWAP70",
"hgvs_c": "c.670C>A",
"hgvs_p": "p.Arg224Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538968.1",
"strand": true,
"transcript": "ENST00000868909.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 538,
"aa_ref": "R",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4700,
"cdna_start": 632,
"cds_end": null,
"cds_length": 1617,
"cds_start": 529,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000966579.1",
"gene_hgnc_id": 17070,
"gene_symbol": "SWAP70",
"hgvs_c": "c.529C>A",
"hgvs_p": "p.Arg177Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636638.1",
"strand": true,
"transcript": "ENST00000966579.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 527,
"aa_ref": "R",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4710,
"cdna_start": 599,
"cds_end": null,
"cds_length": 1584,
"cds_start": 496,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001297714.2",
"gene_hgnc_id": 17070,
"gene_symbol": "SWAP70",
"hgvs_c": "c.496C>A",
"hgvs_p": "p.Arg166Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001284643.1",
"strand": true,
"transcript": "NM_001297714.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 527,
"aa_ref": "R",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3538,
"cdna_start": 599,
"cds_end": null,
"cds_length": 1584,
"cds_start": 496,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000447399.6",
"gene_hgnc_id": 17070,
"gene_symbol": "SWAP70",
"hgvs_c": "c.496C>A",
"hgvs_p": "p.Arg166Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000399056.2",
"strand": true,
"transcript": "ENST00000447399.6",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 519,
"aa_ref": "R",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2014,
"cdna_start": 722,
"cds_end": null,
"cds_length": 1560,
"cds_start": 670,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000868911.1",
"gene_hgnc_id": 17070,
"gene_symbol": "SWAP70",
"hgvs_c": "c.670C>A",
"hgvs_p": "p.Arg224Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538970.1",
"strand": true,
"transcript": "ENST00000868911.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4618,
"cdna_start": 550,
"cds_end": null,
"cds_length": 1530,
"cds_start": 442,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000868908.1",
"gene_hgnc_id": 17070,
"gene_symbol": "SWAP70",
"hgvs_c": "c.442C>A",
"hgvs_p": "p.Arg148Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538967.1",
"strand": true,
"transcript": "ENST00000868908.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 495,
"aa_ref": "R",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3413,
"cdna_start": 516,
"cds_end": null,
"cds_length": 1488,
"cds_start": 442,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000966580.1",
"gene_hgnc_id": 17070,
"gene_symbol": "SWAP70",
"hgvs_c": "c.442C>A",
"hgvs_p": "p.Arg148Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636639.1",
"strand": true,
"transcript": "ENST00000966580.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 451,
"aa_ref": "R",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1834,
"cdna_start": 376,
"cds_end": null,
"cds_length": 1356,
"cds_start": 268,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000868910.1",
"gene_hgnc_id": 17070,
"gene_symbol": "SWAP70",
"hgvs_c": "c.268C>A",
"hgvs_p": "p.Arg90Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538969.1",
"strand": true,
"transcript": "ENST00000868910.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 225,
"aa_ref": "R",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1131,
"cdna_start": 674,
"cds_end": null,
"cds_length": 680,
"cds_start": 223,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000534662.1",
"gene_hgnc_id": 17070,
"gene_symbol": "SWAP70",
"hgvs_c": "c.223C>A",
"hgvs_p": "p.Arg75Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435587.1",
"strand": true,
"transcript": "ENST00000534662.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 977,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000534562.1",
"gene_hgnc_id": 17070,
"gene_symbol": "SWAP70",
"hgvs_c": "n.*18C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000433824.1",
"strand": true,
"transcript": "ENST00000534562.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 977,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000534562.1",
"gene_hgnc_id": 17070,
"gene_symbol": "SWAP70",
"hgvs_c": "n.*18C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000433824.1",
"strand": true,
"transcript": "ENST00000534562.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 813,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000526358.5",
"gene_hgnc_id": 17070,
"gene_symbol": "SWAP70",
"hgvs_c": "n.*273C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000431768.1",
"strand": true,
"transcript": "ENST00000526358.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs756309764",
"effect": "synonymous_variant",
"frequency_reference_population": 6.86145e-7,
"gene_hgnc_id": 17070,
"gene_symbol": "SWAP70",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.86145e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.391,
"pos": 9728080,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_015055.4"
}
]
}