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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: 2-54666036-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=54666036&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 54666036,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003128.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN1",
"gene_hgnc_id": 11275,
"hgvs_c": "c.6781G>C",
"hgvs_p": "p.Val2261Leu",
"transcript": "NM_003128.3",
"protein_id": "NP_003119.2",
"transcript_support_level": null,
"aa_start": 2261,
"aa_end": null,
"aa_length": 2364,
"cds_start": 6781,
"cds_end": null,
"cds_length": 7095,
"cdna_start": 7020,
"cdna_end": null,
"cdna_length": 10211,
"mane_select": "ENST00000356805.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN1",
"gene_hgnc_id": 11275,
"hgvs_c": "c.6781G>C",
"hgvs_p": "p.Val2261Leu",
"transcript": "ENST00000356805.9",
"protein_id": "ENSP00000349259.4",
"transcript_support_level": 1,
"aa_start": 2261,
"aa_end": null,
"aa_length": 2364,
"cds_start": 6781,
"cds_end": null,
"cds_length": 7095,
"cdna_start": 7020,
"cdna_end": null,
"cdna_length": 10211,
"mane_select": "NM_003128.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN1",
"gene_hgnc_id": 11275,
"hgvs_c": "c.6781G>C",
"hgvs_p": "p.Val2261Leu",
"transcript": "XM_005264517.3",
"protein_id": "XP_005264574.1",
"transcript_support_level": null,
"aa_start": 2261,
"aa_end": null,
"aa_length": 2364,
"cds_start": 6781,
"cds_end": null,
"cds_length": 7095,
"cdna_start": 6969,
"cdna_end": null,
"cdna_length": 10160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN1",
"gene_hgnc_id": 11275,
"hgvs_c": "c.6781G>C",
"hgvs_p": "p.Val2261Leu",
"transcript": "XM_006712087.4",
"protein_id": "XP_006712150.1",
"transcript_support_level": null,
"aa_start": 2261,
"aa_end": null,
"aa_length": 2364,
"cds_start": 6781,
"cds_end": null,
"cds_length": 7095,
"cdna_start": 6931,
"cdna_end": null,
"cdna_length": 10122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN1",
"gene_hgnc_id": 11275,
"hgvs_c": "c.6781G>C",
"hgvs_p": "p.Val2261Leu",
"transcript": "XM_017004779.2",
"protein_id": "XP_016860268.1",
"transcript_support_level": null,
"aa_start": 2261,
"aa_end": null,
"aa_length": 2364,
"cds_start": 6781,
"cds_end": null,
"cds_length": 7095,
"cdna_start": 7018,
"cdna_end": null,
"cdna_length": 10209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN1",
"gene_hgnc_id": 11275,
"hgvs_c": "c.6781G>C",
"hgvs_p": "p.Val2261Leu",
"transcript": "XM_017004780.2",
"protein_id": "XP_016860269.1",
"transcript_support_level": null,
"aa_start": 2261,
"aa_end": null,
"aa_length": 2364,
"cds_start": 6781,
"cds_end": null,
"cds_length": 7095,
"cdna_start": 7023,
"cdna_end": null,
"cdna_length": 10214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN1",
"gene_hgnc_id": 11275,
"hgvs_c": "c.6781G>C",
"hgvs_p": "p.Val2261Leu",
"transcript": "XM_017004781.2",
"protein_id": "XP_016860270.1",
"transcript_support_level": null,
"aa_start": 2261,
"aa_end": null,
"aa_length": 2364,
"cds_start": 6781,
"cds_end": null,
"cds_length": 7095,
"cdna_start": 7063,
"cdna_end": null,
"cdna_length": 10254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN1",
"gene_hgnc_id": 11275,
"hgvs_c": "c.6781G>C",
"hgvs_p": "p.Val2261Leu",
"transcript": "XM_047445591.1",
"protein_id": "XP_047301547.1",
"transcript_support_level": null,
"aa_start": 2261,
"aa_end": null,
"aa_length": 2364,
"cds_start": 6781,
"cds_end": null,
"cds_length": 7095,
"cdna_start": 6914,
"cdna_end": null,
"cdna_length": 10105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN1",
"gene_hgnc_id": 11275,
"hgvs_c": "c.6781G>C",
"hgvs_p": "p.Val2261Leu",
"transcript": "XM_047445592.1",
"protein_id": "XP_047301548.1",
"transcript_support_level": null,
"aa_start": 2261,
"aa_end": null,
"aa_length": 2364,
"cds_start": 6781,
"cds_end": null,
"cds_length": 7095,
"cdna_start": 6945,
"cdna_end": null,
"cdna_length": 10136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN1",
"gene_hgnc_id": 11275,
"hgvs_c": "c.6781G>C",
"hgvs_p": "p.Val2261Leu",
"transcript": "XM_047445593.1",
"protein_id": "XP_047301549.1",
"transcript_support_level": null,
"aa_start": 2261,
"aa_end": null,
"aa_length": 2364,
"cds_start": 6781,
"cds_end": null,
"cds_length": 7095,
"cdna_start": 6923,
"cdna_end": null,
"cdna_length": 10114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN1",
"gene_hgnc_id": 11275,
"hgvs_c": "c.6781G>C",
"hgvs_p": "p.Val2261Leu",
"transcript": "XM_047445594.1",
"protein_id": "XP_047301550.1",
"transcript_support_level": null,
"aa_start": 2261,
"aa_end": null,
"aa_length": 2364,
"cds_start": 6781,
"cds_end": null,
"cds_length": 7095,
"cdna_start": 6899,
"cdna_end": null,
"cdna_length": 10090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN1",
"gene_hgnc_id": 11275,
"hgvs_c": "c.6781G>C",
"hgvs_p": "p.Val2261Leu",
"transcript": "XM_047445595.1",
"protein_id": "XP_047301551.1",
"transcript_support_level": null,
"aa_start": 2261,
"aa_end": null,
"aa_length": 2364,
"cds_start": 6781,
"cds_end": null,
"cds_length": 7095,
"cdna_start": 6924,
"cdna_end": null,
"cdna_length": 10115,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN1",
"gene_hgnc_id": 11275,
"hgvs_c": "c.6742G>C",
"hgvs_p": "p.Val2248Leu",
"transcript": "XM_005264518.3",
"protein_id": "XP_005264575.1",
"transcript_support_level": null,
"aa_start": 2248,
"aa_end": null,
"aa_length": 2351,
"cds_start": 6742,
"cds_end": null,
"cds_length": 7056,
"cdna_start": 7138,
"cdna_end": null,
"cdna_length": 10329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN1",
"gene_hgnc_id": 11275,
"hgvs_c": "n.1913G>C",
"hgvs_p": null,
"transcript": "ENST00000467371.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 3332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SPTBN1-AS2",
"gene_hgnc_id": 40563,
"hgvs_c": "n.223-1195C>G",
"hgvs_p": null,
"transcript": "ENST00000626206.1",
"protein_id": null,
"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": 854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SPTBN1-AS2",
"gene_hgnc_id": 40563,
"hgvs_c": "n.223-1195C>G",
"hgvs_p": null,
"transcript": "NR_186176.1",
"protein_id": null,
"transcript_support_level": null,
"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": 743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SPTBN1",
"gene_hgnc_id": 11275,
"dbsnp": null,
"frequency_reference_population": 6.841574e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84157e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14829349517822266,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.106,
"revel_prediction": "Benign",
"alphamissense_score": 0.0754,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.413,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003128.3",
"gene_symbol": "SPTBN1",
"hgnc_id": 11275,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.6781G>C",
"hgvs_p": "p.Val2261Leu"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_186176.1",
"gene_symbol": "SPTBN1-AS2",
"hgnc_id": 40563,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.223-1195C>G",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}