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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: 3-121381436-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=121381436&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 121381436,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014980.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.2491G>A",
"hgvs_p": "p.Val831Ile",
"transcript": "NM_001308330.2",
"protein_id": "NP_001295259.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 1162,
"cds_start": 2491,
"cds_end": null,
"cds_length": 3489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000471454.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308330.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.2491G>A",
"hgvs_p": "p.Val831Ile",
"transcript": "ENST00000471454.6",
"protein_id": "ENSP00000420019.1",
"transcript_support_level": 2,
"aa_start": 831,
"aa_end": null,
"aa_length": 1162,
"cds_start": 2491,
"cds_end": null,
"cds_length": 3489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001308330.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000471454.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.2563G>A",
"hgvs_p": "p.Val855Ile",
"transcript": "ENST00000273666.10",
"protein_id": "ENSP00000273666.6",
"transcript_support_level": 1,
"aa_start": 855,
"aa_end": null,
"aa_length": 1186,
"cds_start": 2563,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000273666.10"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.2563G>A",
"hgvs_p": "p.Val855Ile",
"transcript": "NM_001348343.2",
"protein_id": "NP_001335272.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 1186,
"cds_start": 2563,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348343.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.2563G>A",
"hgvs_p": "p.Val855Ile",
"transcript": "NM_014980.3",
"protein_id": "NP_055795.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 1186,
"cds_start": 2563,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014980.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.2563G>A",
"hgvs_p": "p.Val855Ile",
"transcript": "ENST00000707001.1",
"protein_id": "ENSP00000516710.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 1186,
"cds_start": 2563,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000707001.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.2491G>A",
"hgvs_p": "p.Val831Ile",
"transcript": "NM_001348344.2",
"protein_id": "NP_001335273.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 1162,
"cds_start": 2491,
"cds_end": null,
"cds_length": 3489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348344.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.2491G>A",
"hgvs_p": "p.Val831Ile",
"transcript": "NM_001348345.2",
"protein_id": "NP_001335274.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 1162,
"cds_start": 2491,
"cds_end": null,
"cds_length": 3489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348345.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.2491G>A",
"hgvs_p": "p.Val831Ile",
"transcript": "ENST00000879204.1",
"protein_id": "ENSP00000549263.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 1162,
"cds_start": 2491,
"cds_end": null,
"cds_length": 3489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879204.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.2491G>A",
"hgvs_p": "p.Val831Ile",
"transcript": "ENST00000938469.1",
"protein_id": "ENSP00000608528.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 1162,
"cds_start": 2491,
"cds_end": null,
"cds_length": 3489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938469.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.2392G>A",
"hgvs_p": "p.Val798Ile",
"transcript": "ENST00000471262.1",
"protein_id": "ENSP00000420167.1",
"transcript_support_level": 5,
"aa_start": 798,
"aa_end": null,
"aa_length": 1128,
"cds_start": 2392,
"cds_end": null,
"cds_length": 3388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000471262.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.2563G>A",
"hgvs_p": "p.Val855Ile",
"transcript": "ENST00000492541.5",
"protein_id": "ENSP00000420666.1",
"transcript_support_level": 5,
"aa_start": 855,
"aa_end": null,
"aa_length": 1026,
"cds_start": 2563,
"cds_end": null,
"cds_length": 3081,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000492541.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.2491G>A",
"hgvs_p": "p.Val831Ile",
"transcript": "ENST00000472879.5",
"protein_id": "ENSP00000419627.1",
"transcript_support_level": 5,
"aa_start": 831,
"aa_end": null,
"aa_length": 1002,
"cds_start": 2491,
"cds_end": null,
"cds_length": 3009,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000472879.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.2485G>A",
"hgvs_p": "p.Val829Ile",
"transcript": "ENST00000497029.5",
"protein_id": "ENSP00000420287.1",
"transcript_support_level": 5,
"aa_start": 829,
"aa_end": null,
"aa_length": 1000,
"cds_start": 2485,
"cds_end": null,
"cds_length": 3003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000497029.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.2563G>A",
"hgvs_p": "p.Val855Ile",
"transcript": "XM_006713825.4",
"protein_id": "XP_006713888.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 1186,
"cds_start": 2563,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713825.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.2002G>A",
"hgvs_p": "p.Val668Ile",
"transcript": "XM_047449249.1",
"protein_id": "XP_047305205.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 999,
"cds_start": 2002,
"cds_end": null,
"cds_length": 3000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449249.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "c.1111G>A",
"hgvs_p": "p.Val371Ile",
"transcript": "XM_011513332.2",
"protein_id": "XP_011511634.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 702,
"cds_start": 1111,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513332.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"hgvs_c": "n.2829G>A",
"hgvs_p": null,
"transcript": "NR_145516.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_145516.2"
}
],
"gene_symbol": "STXBP5L",
"gene_hgnc_id": 30757,
"dbsnp": "rs17740066",
"frequency_reference_population": 0.097191885,
"hom_count_reference_population": 8433,
"allele_count_reference_population": 156013,
"gnomad_exomes_af": 0.0990634,
"gnomad_genomes_af": 0.079291,
"gnomad_exomes_ac": 143966,
"gnomad_genomes_ac": 12047,
"gnomad_exomes_homalt": 7832,
"gnomad_genomes_homalt": 601,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00334206223487854,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.097,
"revel_prediction": "Benign",
"alphamissense_score": 0.105,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.952,
"phylop100way_prediction": "Pathogenic",
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_014980.3",
"gene_symbol": "STXBP5L",
"hgnc_id": 30757,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2563G>A",
"hgvs_p": "p.Val855Ile"
}
],
"clinvar_disease": "STXBP5L-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "STXBP5L-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}