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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: 2-54665986-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=54665986&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP5_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SPTBN1",
"hgnc_id": 11275,
"hgvs_c": "c.6731C>A",
"hgvs_p": "p.Ala2244Asp",
"inheritance_mode": "AD",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_003128.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP5_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SPTBN1-AS2",
"hgnc_id": 40563,
"hgvs_c": "n.223-1145G>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "NR_186176.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP5_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.4494,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"chr": "2",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.21578121185302734,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 2364,
"aa_ref": "A",
"aa_start": 2244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10211,
"cdna_start": 6970,
"cds_end": null,
"cds_length": 7095,
"cds_start": 6731,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "NM_003128.3",
"gene_hgnc_id": 11275,
"gene_symbol": "SPTBN1",
"hgvs_c": "c.6731C>A",
"hgvs_p": "p.Ala2244Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000356805.9",
"protein_coding": true,
"protein_id": "NP_003119.2",
"strand": true,
"transcript": "NM_003128.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 2364,
"aa_ref": "A",
"aa_start": 2244,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10211,
"cdna_start": 6970,
"cds_end": null,
"cds_length": 7095,
"cds_start": 6731,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000356805.9",
"gene_hgnc_id": 11275,
"gene_symbol": "SPTBN1",
"hgvs_c": "c.6731C>A",
"hgvs_p": "p.Ala2244Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003128.3",
"protein_coding": true,
"protein_id": "ENSP00000349259.4",
"strand": true,
"transcript": "ENST00000356805.9",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 2364,
"aa_ref": "A",
"aa_start": 2244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8515,
"cdna_start": 7047,
"cds_end": null,
"cds_length": 7095,
"cds_start": 6731,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000898760.1",
"gene_hgnc_id": 11275,
"gene_symbol": "SPTBN1",
"hgvs_c": "c.6731C>A",
"hgvs_p": "p.Ala2244Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568819.1",
"strand": true,
"transcript": "ENST00000898760.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 2364,
"aa_ref": "A",
"aa_start": 2244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8484,
"cdna_start": 7013,
"cds_end": null,
"cds_length": 7095,
"cds_start": 6731,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000898761.1",
"gene_hgnc_id": 11275,
"gene_symbol": "SPTBN1",
"hgvs_c": "c.6731C>A",
"hgvs_p": "p.Ala2244Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568820.1",
"strand": true,
"transcript": "ENST00000898761.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 2364,
"aa_ref": "A",
"aa_start": 2244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8304,
"cdna_start": 6836,
"cds_end": null,
"cds_length": 7095,
"cds_start": 6731,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000898762.1",
"gene_hgnc_id": 11275,
"gene_symbol": "SPTBN1",
"hgvs_c": "c.6731C>A",
"hgvs_p": "p.Ala2244Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568821.1",
"strand": true,
"transcript": "ENST00000898762.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 2364,
"aa_ref": "A",
"aa_start": 2244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8276,
"cdna_start": 6806,
"cds_end": null,
"cds_length": 7095,
"cds_start": 6731,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000937940.1",
"gene_hgnc_id": 11275,
"gene_symbol": "SPTBN1",
"hgvs_c": "c.6731C>A",
"hgvs_p": "p.Ala2244Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607999.1",
"strand": true,
"transcript": "ENST00000937940.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 2364,
"aa_ref": "A",
"aa_start": 2244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8442,
"cdna_start": 6972,
"cds_end": null,
"cds_length": 7095,
"cds_start": 6731,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000937941.1",
"gene_hgnc_id": 11275,
"gene_symbol": "SPTBN1",
"hgvs_c": "c.6731C>A",
"hgvs_p": "p.Ala2244Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608000.1",
"strand": true,
"transcript": "ENST00000937941.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 617,
"aa_ref": "A",
"aa_start": 497,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3238,
"cdna_start": 1768,
"cds_end": null,
"cds_length": 1854,
"cds_start": 1490,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000898759.1",
"gene_hgnc_id": 11275,
"gene_symbol": "SPTBN1",
"hgvs_c": "c.1490C>A",
"hgvs_p": "p.Ala497Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568818.1",
"strand": true,
"transcript": "ENST00000898759.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 2364,
"aa_ref": "A",
"aa_start": 2244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10160,
"cdna_start": 6919,
"cds_end": null,
"cds_length": 7095,
"cds_start": 6731,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "XM_005264517.3",
"gene_hgnc_id": 11275,
"gene_symbol": "SPTBN1",
"hgvs_c": "c.6731C>A",
"hgvs_p": "p.Ala2244Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005264574.1",
"strand": true,
"transcript": "XM_005264517.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 2364,
"aa_ref": "A",
"aa_start": 2244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10122,
"cdna_start": 6881,
"cds_end": null,
"cds_length": 7095,
"cds_start": 6731,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "XM_006712087.4",
"gene_hgnc_id": 11275,
"gene_symbol": "SPTBN1",
"hgvs_c": "c.6731C>A",
"hgvs_p": "p.Ala2244Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006712150.1",
"strand": true,
"transcript": "XM_006712087.4",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 2364,
"aa_ref": "A",
"aa_start": 2244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10209,
"cdna_start": 6968,
"cds_end": null,
"cds_length": 7095,
"cds_start": 6731,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "XM_017004779.2",
"gene_hgnc_id": 11275,
"gene_symbol": "SPTBN1",
"hgvs_c": "c.6731C>A",
"hgvs_p": "p.Ala2244Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016860268.1",
"strand": true,
"transcript": "XM_017004779.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 2364,
"aa_ref": "A",
"aa_start": 2244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10214,
"cdna_start": 6973,
"cds_end": null,
"cds_length": 7095,
"cds_start": 6731,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "XM_017004780.2",
"gene_hgnc_id": 11275,
"gene_symbol": "SPTBN1",
"hgvs_c": "c.6731C>A",
"hgvs_p": "p.Ala2244Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016860269.1",
"strand": true,
"transcript": "XM_017004780.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
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"aa_length": 2364,
"aa_ref": "A",
"aa_start": 2244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10254,
"cdna_start": 7013,
"cds_end": null,
"cds_length": 7095,
"cds_start": 6731,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "XM_017004781.2",
"gene_hgnc_id": 11275,
"gene_symbol": "SPTBN1",
"hgvs_c": "c.6731C>A",
"hgvs_p": "p.Ala2244Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016860270.1",
"strand": true,
"transcript": "XM_017004781.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
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"aa_length": 2364,
"aa_ref": "A",
"aa_start": 2244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10105,
"cdna_start": 6864,
"cds_end": null,
"cds_length": 7095,
"cds_start": 6731,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "XM_047445591.1",
"gene_hgnc_id": 11275,
"gene_symbol": "SPTBN1",
"hgvs_c": "c.6731C>A",
"hgvs_p": "p.Ala2244Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047301547.1",
"strand": true,
"transcript": "XM_047445591.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 2364,
"aa_ref": "A",
"aa_start": 2244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10136,
"cdna_start": 6895,
"cds_end": null,
"cds_length": 7095,
"cds_start": 6731,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "XM_047445592.1",
"gene_hgnc_id": 11275,
"gene_symbol": "SPTBN1",
"hgvs_c": "c.6731C>A",
"hgvs_p": "p.Ala2244Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047301548.1",
"strand": true,
"transcript": "XM_047445592.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
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"aa_length": 2364,
"aa_ref": "A",
"aa_start": 2244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10114,
"cdna_start": 6873,
"cds_end": null,
"cds_length": 7095,
"cds_start": 6731,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "XM_047445593.1",
"gene_hgnc_id": 11275,
"gene_symbol": "SPTBN1",
"hgvs_c": "c.6731C>A",
"hgvs_p": "p.Ala2244Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047301549.1",
"strand": true,
"transcript": "XM_047445593.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
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"aa_length": 2364,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10090,
"cdna_start": 6849,
"cds_end": null,
"cds_length": 7095,
"cds_start": 6731,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "XM_047445594.1",
"gene_hgnc_id": 11275,
"gene_symbol": "SPTBN1",
"hgvs_c": "c.6731C>A",
"hgvs_p": "p.Ala2244Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047301550.1",
"strand": true,
"transcript": "XM_047445594.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 2364,
"aa_ref": "A",
"aa_start": 2244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10115,
"cdna_start": 6874,
"cds_end": null,
"cds_length": 7095,
"cds_start": 6731,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "XM_047445595.1",
"gene_hgnc_id": 11275,
"gene_symbol": "SPTBN1",
"hgvs_c": "c.6731C>A",
"hgvs_p": "p.Ala2244Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047301551.1",
"strand": true,
"transcript": "XM_047445595.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 2351,
"aa_ref": "A",
"aa_start": 2231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10329,
"cdna_start": 7088,
"cds_end": null,
"cds_length": 7056,
"cds_start": 6692,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "XM_005264518.3",
"gene_hgnc_id": 11275,
"gene_symbol": "SPTBN1",
"hgvs_c": "c.6692C>A",
"hgvs_p": "p.Ala2231Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005264575.1",
"strand": true,
"transcript": "XM_005264518.3",
"transcript_support_level": null
},
{
"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": 3332,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000467371.1",
"gene_hgnc_id": 11275,
"gene_symbol": "SPTBN1",
"hgvs_c": "n.1863C>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": "ENST00000467371.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
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{
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],
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]
}