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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: 2-54664588-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=54664588&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 54664588,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000356805.9",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN1",
"gene_hgnc_id": 11275,
"hgvs_c": "c.6556G>A",
"hgvs_p": "p.Ala2186Thr",
"transcript": "NM_003128.3",
"protein_id": "NP_003119.2",
"transcript_support_level": null,
"aa_start": 2186,
"aa_end": null,
"aa_length": 2364,
"cds_start": 6556,
"cds_end": null,
"cds_length": 7095,
"cdna_start": 6795,
"cdna_end": null,
"cdna_length": 10211,
"mane_select": "ENST00000356805.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN1",
"gene_hgnc_id": 11275,
"hgvs_c": "c.6556G>A",
"hgvs_p": "p.Ala2186Thr",
"transcript": "ENST00000356805.9",
"protein_id": "ENSP00000349259.4",
"transcript_support_level": 1,
"aa_start": 2186,
"aa_end": null,
"aa_length": 2364,
"cds_start": 6556,
"cds_end": null,
"cds_length": 7095,
"cdna_start": 6795,
"cdna_end": null,
"cdna_length": 10211,
"mane_select": "NM_003128.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN1",
"gene_hgnc_id": 11275,
"hgvs_c": "c.6556G>A",
"hgvs_p": "p.Ala2186Thr",
"transcript": "XM_005264517.3",
"protein_id": "XP_005264574.1",
"transcript_support_level": null,
"aa_start": 2186,
"aa_end": null,
"aa_length": 2364,
"cds_start": 6556,
"cds_end": null,
"cds_length": 7095,
"cdna_start": 6744,
"cdna_end": null,
"cdna_length": 10160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN1",
"gene_hgnc_id": 11275,
"hgvs_c": "c.6556G>A",
"hgvs_p": "p.Ala2186Thr",
"transcript": "XM_006712087.4",
"protein_id": "XP_006712150.1",
"transcript_support_level": null,
"aa_start": 2186,
"aa_end": null,
"aa_length": 2364,
"cds_start": 6556,
"cds_end": null,
"cds_length": 7095,
"cdna_start": 6706,
"cdna_end": null,
"cdna_length": 10122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN1",
"gene_hgnc_id": 11275,
"hgvs_c": "c.6556G>A",
"hgvs_p": "p.Ala2186Thr",
"transcript": "XM_017004779.2",
"protein_id": "XP_016860268.1",
"transcript_support_level": null,
"aa_start": 2186,
"aa_end": null,
"aa_length": 2364,
"cds_start": 6556,
"cds_end": null,
"cds_length": 7095,
"cdna_start": 6793,
"cdna_end": null,
"cdna_length": 10209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN1",
"gene_hgnc_id": 11275,
"hgvs_c": "c.6556G>A",
"hgvs_p": "p.Ala2186Thr",
"transcript": "XM_017004780.2",
"protein_id": "XP_016860269.1",
"transcript_support_level": null,
"aa_start": 2186,
"aa_end": null,
"aa_length": 2364,
"cds_start": 6556,
"cds_end": null,
"cds_length": 7095,
"cdna_start": 6798,
"cdna_end": null,
"cdna_length": 10214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN1",
"gene_hgnc_id": 11275,
"hgvs_c": "c.6556G>A",
"hgvs_p": "p.Ala2186Thr",
"transcript": "XM_017004781.2",
"protein_id": "XP_016860270.1",
"transcript_support_level": null,
"aa_start": 2186,
"aa_end": null,
"aa_length": 2364,
"cds_start": 6556,
"cds_end": null,
"cds_length": 7095,
"cdna_start": 6838,
"cdna_end": null,
"cdna_length": 10254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN1",
"gene_hgnc_id": 11275,
"hgvs_c": "c.6556G>A",
"hgvs_p": "p.Ala2186Thr",
"transcript": "XM_047445591.1",
"protein_id": "XP_047301547.1",
"transcript_support_level": null,
"aa_start": 2186,
"aa_end": null,
"aa_length": 2364,
"cds_start": 6556,
"cds_end": null,
"cds_length": 7095,
"cdna_start": 6689,
"cdna_end": null,
"cdna_length": 10105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN1",
"gene_hgnc_id": 11275,
"hgvs_c": "c.6556G>A",
"hgvs_p": "p.Ala2186Thr",
"transcript": "XM_047445592.1",
"protein_id": "XP_047301548.1",
"transcript_support_level": null,
"aa_start": 2186,
"aa_end": null,
"aa_length": 2364,
"cds_start": 6556,
"cds_end": null,
"cds_length": 7095,
"cdna_start": 6720,
"cdna_end": null,
"cdna_length": 10136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN1",
"gene_hgnc_id": 11275,
"hgvs_c": "c.6556G>A",
"hgvs_p": "p.Ala2186Thr",
"transcript": "XM_047445593.1",
"protein_id": "XP_047301549.1",
"transcript_support_level": null,
"aa_start": 2186,
"aa_end": null,
"aa_length": 2364,
"cds_start": 6556,
"cds_end": null,
"cds_length": 7095,
"cdna_start": 6698,
"cdna_end": null,
"cdna_length": 10114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN1",
"gene_hgnc_id": 11275,
"hgvs_c": "c.6556G>A",
"hgvs_p": "p.Ala2186Thr",
"transcript": "XM_047445594.1",
"protein_id": "XP_047301550.1",
"transcript_support_level": null,
"aa_start": 2186,
"aa_end": null,
"aa_length": 2364,
"cds_start": 6556,
"cds_end": null,
"cds_length": 7095,
"cdna_start": 6674,
"cdna_end": null,
"cdna_length": 10090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN1",
"gene_hgnc_id": 11275,
"hgvs_c": "c.6556G>A",
"hgvs_p": "p.Ala2186Thr",
"transcript": "XM_047445595.1",
"protein_id": "XP_047301551.1",
"transcript_support_level": null,
"aa_start": 2186,
"aa_end": null,
"aa_length": 2364,
"cds_start": 6556,
"cds_end": null,
"cds_length": 7095,
"cdna_start": 6699,
"cdna_end": null,
"cdna_length": 10115,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN1",
"gene_hgnc_id": 11275,
"hgvs_c": "c.6517G>A",
"hgvs_p": "p.Ala2173Thr",
"transcript": "XM_005264518.3",
"protein_id": "XP_005264575.1",
"transcript_support_level": null,
"aa_start": 2173,
"aa_end": null,
"aa_length": 2351,
"cds_start": 6517,
"cds_end": null,
"cds_length": 7056,
"cdna_start": 6913,
"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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN1",
"gene_hgnc_id": 11275,
"hgvs_c": "n.1688G>A",
"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": 2,
"intron_rank_end": null,
"gene_symbol": "SPTBN1-AS2",
"gene_hgnc_id": 40563,
"hgvs_c": "n.466+10C>T",
"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": 2,
"intron_rank_end": null,
"gene_symbol": "SPTBN1-AS2",
"gene_hgnc_id": 40563,
"hgvs_c": "n.466+10C>T",
"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": "rs200361368",
"frequency_reference_population": 0.00023854667,
"hom_count_reference_population": 0,
"allele_count_reference_population": 385,
"gnomad_exomes_af": 0.00024694,
"gnomad_genomes_af": 0.000157847,
"gnomad_exomes_ac": 361,
"gnomad_genomes_ac": 24,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09296569228172302,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.173,
"revel_prediction": "Benign",
"alphamissense_score": 0.1551,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.851,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BS1,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000356805.9",
"gene_symbol": "SPTBN1",
"hgnc_id": 11275,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.6556G>A",
"hgvs_p": "p.Ala2186Thr"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NR_186176.1",
"gene_symbol": "SPTBN1-AS2",
"hgnc_id": 40563,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.466+10C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}