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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: 3-38622490-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=38622490&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 38622490,
"ref": "G",
"alt": "C",
"effect": "splice_acceptor_variant,intron_variant",
"transcript": "ENST00000423572.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SCN5A",
"gene_hgnc_id": 10593,
"hgvs_c": "c.393-1C>G",
"hgvs_p": null,
"transcript": "NM_001099404.2",
"protein_id": "NP_001092874.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2016,
"cds_start": -4,
"cds_end": null,
"cds_length": 6051,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8519,
"mane_select": null,
"mane_plus": "ENST00000413689.6",
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SCN5A",
"gene_hgnc_id": 10593,
"hgvs_c": "c.393-1C>G",
"hgvs_p": null,
"transcript": "ENST00000413689.6",
"protein_id": "ENSP00000410257.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2016,
"cds_start": -4,
"cds_end": null,
"cds_length": 6051,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8519,
"mane_select": null,
"mane_plus": "NM_001099404.2",
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SCN5A",
"gene_hgnc_id": 10593,
"hgvs_c": "c.393-1C>G",
"hgvs_p": null,
"transcript": "NM_000335.5",
"protein_id": "NP_000326.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2015,
"cds_start": -4,
"cds_end": null,
"cds_length": 6048,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8516,
"mane_select": "ENST00000423572.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SCN5A",
"gene_hgnc_id": 10593,
"hgvs_c": "c.393-1C>G",
"hgvs_p": null,
"transcript": "ENST00000423572.7",
"protein_id": "ENSP00000398266.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2015,
"cds_start": -4,
"cds_end": null,
"cds_length": 6048,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8516,
"mane_select": "NM_000335.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SCN5A",
"gene_hgnc_id": 10593,
"hgvs_c": "c.393-1C>G",
"hgvs_p": null,
"transcript": "ENST00000333535.9",
"protein_id": "ENSP00000328968.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2016,
"cds_start": -4,
"cds_end": null,
"cds_length": 6051,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SCN5A",
"gene_hgnc_id": 10593,
"hgvs_c": "c.393-1C>G",
"hgvs_p": null,
"transcript": "ENST00000327956.7",
"protein_id": "ENSP00000333674.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2015,
"cds_start": -4,
"cds_end": null,
"cds_length": 6048,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SCN5A",
"gene_hgnc_id": 10593,
"hgvs_c": "c.393-1C>G",
"hgvs_p": null,
"transcript": "ENST00000414099.6",
"protein_id": "ENSP00000398962.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1998,
"cds_start": -4,
"cds_end": null,
"cds_length": 5997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SCN5A",
"gene_hgnc_id": 10593,
"hgvs_c": "c.393-1C>G",
"hgvs_p": null,
"transcript": "ENST00000455624.6",
"protein_id": "ENSP00000399524.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1983,
"cds_start": -4,
"cds_end": null,
"cds_length": 5952,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SCN5A",
"gene_hgnc_id": 10593,
"hgvs_c": "c.393-1C>G",
"hgvs_p": null,
"transcript": "ENST00000450102.6",
"protein_id": "ENSP00000403355.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1962,
"cds_start": -4,
"cds_end": null,
"cds_length": 5889,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SCN5A",
"gene_hgnc_id": 10593,
"hgvs_c": "n.588-1C>G",
"hgvs_p": null,
"transcript": "ENST00000491944.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SCN5A",
"gene_hgnc_id": 10593,
"hgvs_c": "c.393-1C>G",
"hgvs_p": null,
"transcript": "NM_198056.3",
"protein_id": "NP_932173.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2016,
"cds_start": -4,
"cds_end": null,
"cds_length": 6051,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SCN5A",
"gene_hgnc_id": 10593,
"hgvs_c": "c.393-1C>G",
"hgvs_p": null,
"transcript": "NM_001099405.2",
"protein_id": "NP_001092875.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1998,
"cds_start": -4,
"cds_end": null,
"cds_length": 5997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SCN5A",
"gene_hgnc_id": 10593,
"hgvs_c": "c.393-1C>G",
"hgvs_p": null,
"transcript": "NM_001354701.2",
"protein_id": "NP_001341630.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1997,
"cds_start": -4,
"cds_end": null,
"cds_length": 5994,
"cdna_start": null,
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"cdna_length": 8462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SCN5A",
"gene_hgnc_id": 10593,
"hgvs_c": "c.393-1C>G",
"hgvs_p": null,
"transcript": "NM_001160160.2",
"protein_id": "NP_001153632.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1983,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SCN5A",
"gene_hgnc_id": 10593,
"hgvs_c": "c.393-1C>G",
"hgvs_p": null,
"transcript": "NM_001160161.2",
"protein_id": "NP_001153633.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1962,
"cds_start": -4,
"cds_end": null,
"cds_length": 5889,
"cdna_start": null,
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"cdna_length": 8357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SCN5A",
"gene_hgnc_id": 10593,
"hgvs_c": "c.393-1C>G",
"hgvs_p": null,
"transcript": "ENST00000449557.6",
"protein_id": "ENSP00000413996.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1962,
"cds_start": -4,
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"cds_length": 5889,
"cdna_start": null,
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"cdna_length": 5898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SCN5A",
"gene_hgnc_id": 10593,
"hgvs_c": "c.393-1C>G",
"hgvs_p": null,
"transcript": "NM_001407185.1",
"protein_id": "NP_001394114.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 816,
"cds_start": -4,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SCN5A",
"gene_hgnc_id": 10593,
"hgvs_c": "n.393-1C>G",
"hgvs_p": null,
"transcript": "ENST00000713730.1",
"protein_id": "ENSP00000519034.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SCN5A",
"gene_hgnc_id": 10593,
"hgvs_c": "n.393-1C>G",
"hgvs_p": null,
"transcript": "ENST00000713731.1",
"protein_id": "ENSP00000519035.1",
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SCN5A",
"gene_hgnc_id": 10593,
"hgvs_c": "n.602-1C>G",
"hgvs_p": null,
"transcript": "NR_176299.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 9056,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SCN5A",
"gene_hgnc_id": 10593,
"hgvs_c": "c.393-1C>G",
"hgvs_p": null,
"transcript": "XM_011533991.3",
"protein_id": "XP_011532293.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2015,
"cds_start": -4,
"cds_end": null,
"cds_length": 6048,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SCN5A",
"gene_hgnc_id": 10593,
"dbsnp": "rs759235726",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.019999999552965164,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.06764871627092361,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_ADA",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.117,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0676487191055813,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,PM2",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PVS1_Moderate",
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000423572.7",
"gene_symbol": "SCN5A",
"hgnc_id": 10593,
"effects": [
"splice_acceptor_variant",
"intron_variant"
],
"inheritance_mode": "SD,AD,AR",
"hgvs_c": "c.393-1C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}