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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: 12-51622393-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=51622393&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 51622393,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000354534.11",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SCN8A",
"gene_hgnc_id": 10596,
"hgvs_c": "c.-55+31034T>G",
"hgvs_p": null,
"transcript": "NM_001330260.2",
"protein_id": "NP_001317189.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1980,
"cds_start": -4,
"cds_end": null,
"cds_length": 5943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11559,
"mane_select": "ENST00000627620.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SCN8A",
"gene_hgnc_id": 10596,
"hgvs_c": "c.-55+31034T>G",
"hgvs_p": null,
"transcript": "NM_014191.4",
"protein_id": "NP_055006.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1980,
"cds_start": -4,
"cds_end": null,
"cds_length": 5943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11559,
"mane_select": null,
"mane_plus": "ENST00000354534.11",
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SCN8A",
"gene_hgnc_id": 10596,
"hgvs_c": "c.-55+31034T>G",
"hgvs_p": null,
"transcript": "ENST00000354534.11",
"protein_id": "ENSP00000346534.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1980,
"cds_start": -4,
"cds_end": null,
"cds_length": 5943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11559,
"mane_select": null,
"mane_plus": "NM_014191.4",
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SCN8A",
"gene_hgnc_id": 10596,
"hgvs_c": "c.-55+31034T>G",
"hgvs_p": null,
"transcript": "ENST00000627620.5",
"protein_id": "ENSP00000487583.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1980,
"cds_start": -4,
"cds_end": null,
"cds_length": 5943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11559,
"mane_select": "NM_001330260.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SCN8A",
"gene_hgnc_id": 10596,
"hgvs_c": "c.-55+31720T>G",
"hgvs_p": null,
"transcript": "ENST00000546961.1",
"protein_id": "ENSP00000486828.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 0,
"cds_start": -4,
"cds_end": null,
"cds_length": 3,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SCN8A",
"gene_hgnc_id": 10596,
"hgvs_c": "n.74+31394T>G",
"hgvs_p": null,
"transcript": "ENST00000550891.4",
"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": 3253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SCN8A",
"gene_hgnc_id": 10596,
"hgvs_c": "c.-55+31394T>G",
"hgvs_p": null,
"transcript": "ENST00000662684.1",
"protein_id": "ENSP00000499636.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1980,
"cds_start": -4,
"cds_end": null,
"cds_length": 5943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SCN8A",
"gene_hgnc_id": 10596,
"hgvs_c": "c.-55+31034T>G",
"hgvs_p": null,
"transcript": "NM_001177984.3",
"protein_id": "NP_001171455.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1939,
"cds_start": -4,
"cds_end": null,
"cds_length": 5820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SCN8A",
"gene_hgnc_id": 10596,
"hgvs_c": "c.-55+31034T>G",
"hgvs_p": null,
"transcript": "NM_001369788.1",
"protein_id": "NP_001356717.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1939,
"cds_start": -4,
"cds_end": null,
"cds_length": 5820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SCN8A",
"gene_hgnc_id": 10596,
"hgvs_c": "c.-55+31034T>G",
"hgvs_p": null,
"transcript": "ENST00000545061.5",
"protein_id": "ENSP00000440360.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1939,
"cds_start": -4,
"cds_end": null,
"cds_length": 5820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SCN8A",
"gene_hgnc_id": 10596,
"hgvs_c": "c.-55+31034T>G",
"hgvs_p": null,
"transcript": "ENST00000668547.1",
"protein_id": "ENSP00000499691.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1939,
"cds_start": -4,
"cds_end": null,
"cds_length": 5820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SCN8A",
"gene_hgnc_id": 10596,
"hgvs_c": "c.-55+31394T>G",
"hgvs_p": null,
"transcript": "ENST00000638820.1",
"protein_id": "ENSP00000492157.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 759,
"cds_start": -4,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SCN8A",
"gene_hgnc_id": 10596,
"hgvs_c": "c.-55+31394T>G",
"hgvs_p": null,
"transcript": "ENST00000667214.1",
"protein_id": "ENSP00000499724.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 759,
"cds_start": -4,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SCN8A",
"gene_hgnc_id": 10596,
"hgvs_c": "n.-55+31034T>G",
"hgvs_p": null,
"transcript": "ENST00000637709.2",
"protein_id": "ENSP00000490470.1",
"transcript_support_level": 5,
"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": 2489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SCN8A",
"gene_hgnc_id": 10596,
"dbsnp": "rs7300982",
"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": -0.9100000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.041,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000354534.11",
"gene_symbol": "SCN8A",
"hgnc_id": 10596,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-55+31034T>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
}