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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: 14-71588000-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=71588000&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SIPA1L1",
"hgnc_id": 20284,
"hgvs_c": "c.128A>T",
"hgvs_p": "p.Asn43Ile",
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_015556.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000285612",
"hgnc_id": null,
"hgvs_c": "n.1362T>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "ENST00000647653.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 48,
"alphamissense_prediction": null,
"alphamissense_score": 0.6555,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.17,
"chr": "14",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8480572700500488,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1783,
"aa_ref": "N",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7952,
"cdna_start": 680,
"cds_end": null,
"cds_length": 5352,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001386936.1",
"gene_hgnc_id": 20284,
"gene_symbol": "SIPA1L1",
"hgvs_c": "c.128A>T",
"hgvs_p": "p.Asn43Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000381232.8",
"protein_coding": true,
"protein_id": "NP_001373865.1",
"strand": true,
"transcript": "NM_001386936.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1783,
"aa_ref": "N",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7952,
"cdna_start": 680,
"cds_end": null,
"cds_length": 5352,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000381232.8",
"gene_hgnc_id": 20284,
"gene_symbol": "SIPA1L1",
"hgvs_c": "c.128A>T",
"hgvs_p": "p.Asn43Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001386936.1",
"protein_coding": true,
"protein_id": "ENSP00000370630.3",
"strand": true,
"transcript": "ENST00000381232.8",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1804,
"aa_ref": "N",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7831,
"cdna_start": 476,
"cds_end": null,
"cds_length": 5415,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000555818.5",
"gene_hgnc_id": 20284,
"gene_symbol": "SIPA1L1",
"hgvs_c": "c.128A>T",
"hgvs_p": "p.Asn43Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450832.1",
"strand": true,
"transcript": "ENST00000555818.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1845,
"aa_ref": "N",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6359,
"cdna_start": 710,
"cds_end": null,
"cds_length": 5538,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000962884.1",
"gene_hgnc_id": 20284,
"gene_symbol": "SIPA1L1",
"hgvs_c": "c.128A>T",
"hgvs_p": "p.Asn43Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632943.1",
"strand": true,
"transcript": "ENST00000962884.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1844,
"aa_ref": "N",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6347,
"cdna_start": 731,
"cds_end": null,
"cds_length": 5535,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000869393.1",
"gene_hgnc_id": 20284,
"gene_symbol": "SIPA1L1",
"hgvs_c": "c.128A>T",
"hgvs_p": "p.Asn43Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539452.1",
"strand": true,
"transcript": "ENST00000869393.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1844,
"aa_ref": "N",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6299,
"cdna_start": 652,
"cds_end": null,
"cds_length": 5535,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000962888.1",
"gene_hgnc_id": 20284,
"gene_symbol": "SIPA1L1",
"hgvs_c": "c.128A>T",
"hgvs_p": "p.Asn43Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632947.1",
"strand": true,
"transcript": "ENST00000962888.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1812,
"aa_ref": "N",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6280,
"cdna_start": 729,
"cds_end": null,
"cds_length": 5439,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000962885.1",
"gene_hgnc_id": 20284,
"gene_symbol": "SIPA1L1",
"hgvs_c": "c.128A>T",
"hgvs_p": "p.Asn43Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632944.1",
"strand": true,
"transcript": "ENST00000962885.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1804,
"aa_ref": "N",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8015,
"cdna_start": 680,
"cds_end": null,
"cds_length": 5415,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001354285.2",
"gene_hgnc_id": 20284,
"gene_symbol": "SIPA1L1",
"hgvs_c": "c.128A>T",
"hgvs_p": "p.Asn43Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341214.1",
"strand": true,
"transcript": "NM_001354285.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1804,
"aa_ref": "N",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8149,
"cdna_start": 814,
"cds_end": null,
"cds_length": 5415,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_015556.4",
"gene_hgnc_id": 20284,
"gene_symbol": "SIPA1L1",
"hgvs_c": "c.128A>T",
"hgvs_p": "p.Asn43Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_056371.1",
"strand": true,
"transcript": "NM_015556.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1804,
"aa_ref": "N",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6313,
"cdna_start": 782,
"cds_end": null,
"cds_length": 5415,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000936042.1",
"gene_hgnc_id": 20284,
"gene_symbol": "SIPA1L1",
"hgvs_c": "c.128A>T",
"hgvs_p": "p.Asn43Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606101.1",
"strand": true,
"transcript": "ENST00000936042.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1803,
"aa_ref": "N",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8343,
"cdna_start": 1011,
"cds_end": null,
"cds_length": 5412,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001284247.3",
"gene_hgnc_id": 20284,
"gene_symbol": "SIPA1L1",
"hgvs_c": "c.128A>T",
"hgvs_p": "p.Asn43Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001271176.1",
"strand": true,
"transcript": "NM_001284247.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1803,
"aa_ref": "N",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6240,
"cdna_start": 747,
"cds_end": null,
"cds_length": 5412,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000869388.1",
"gene_hgnc_id": 20284,
"gene_symbol": "SIPA1L1",
"hgvs_c": "c.128A>T",
"hgvs_p": "p.Asn43Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539447.1",
"strand": true,
"transcript": "ENST00000869388.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1803,
"aa_ref": "N",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6571,
"cdna_start": 1078,
"cds_end": null,
"cds_length": 5412,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000869397.1",
"gene_hgnc_id": 20284,
"gene_symbol": "SIPA1L1",
"hgvs_c": "c.128A>T",
"hgvs_p": "p.Asn43Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539456.1",
"strand": true,
"transcript": "ENST00000869397.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1803,
"aa_ref": "N",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8043,
"cdna_start": 693,
"cds_end": null,
"cds_length": 5412,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000936028.1",
"gene_hgnc_id": 20284,
"gene_symbol": "SIPA1L1",
"hgvs_c": "c.128A>T",
"hgvs_p": "p.Asn43Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606087.1",
"strand": true,
"transcript": "ENST00000936028.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1803,
"aa_ref": "N",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6431,
"cdna_start": 907,
"cds_end": null,
"cds_length": 5412,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000936053.1",
"gene_hgnc_id": 20284,
"gene_symbol": "SIPA1L1",
"hgvs_c": "c.128A>T",
"hgvs_p": "p.Asn43Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606112.1",
"strand": true,
"transcript": "ENST00000936053.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1803,
"aa_ref": "N",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8116,
"cdna_start": 954,
"cds_end": null,
"cds_length": 5412,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000962882.1",
"gene_hgnc_id": 20284,
"gene_symbol": "SIPA1L1",
"hgvs_c": "c.128A>T",
"hgvs_p": "p.Asn43Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632941.1",
"strand": true,
"transcript": "ENST00000962882.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1783,
"aa_ref": "N",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8061,
"cdna_start": 789,
"cds_end": null,
"cds_length": 5352,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001284245.3",
"gene_hgnc_id": 20284,
"gene_symbol": "SIPA1L1",
"hgvs_c": "c.128A>T",
"hgvs_p": "p.Asn43Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001271174.1",
"strand": true,
"transcript": "NM_001284245.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1783,
"aa_ref": "N",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8222,
"cdna_start": 929,
"cds_end": null,
"cds_length": 5352,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000869378.1",
"gene_hgnc_id": 20284,
"gene_symbol": "SIPA1L1",
"hgvs_c": "c.128A>T",
"hgvs_p": "p.Asn43Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539437.1",
"strand": true,
"transcript": "ENST00000869378.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1783,
"aa_ref": "N",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7930,
"cdna_start": 831,
"cds_end": null,
"cds_length": 5352,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000869380.1",
"gene_hgnc_id": 20284,
"gene_symbol": "SIPA1L1",
"hgvs_c": "c.128A>T",
"hgvs_p": "p.Asn43Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539439.1",
"strand": true,
"transcript": "ENST00000869380.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1783,
"aa_ref": "N",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6227,
"cdna_start": 759,
"cds_end": null,
"cds_length": 5352,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000869383.1",
"gene_hgnc_id": 20284,
"gene_symbol": "SIPA1L1",
"hgvs_c": "c.128A>T",
"hgvs_p": "p.Asn43Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539442.1",
"strand": true,
"transcript": "ENST00000869383.1",
"transcript_support_level": null
},
{
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