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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: 1-232415554-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=232415554&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 232415554,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_020808.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4702C>G",
"hgvs_p": "p.Pro1568Ala",
"transcript": "NM_020808.5",
"protein_id": "NP_065859.3",
"transcript_support_level": null,
"aa_start": 1568,
"aa_end": null,
"aa_length": 1722,
"cds_start": 4702,
"cds_end": null,
"cds_length": 5169,
"cdna_start": 5285,
"cdna_end": null,
"cdna_length": 6914,
"mane_select": "ENST00000674635.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4702C>G",
"hgvs_p": "p.Pro1568Ala",
"transcript": "ENST00000674635.1",
"protein_id": "ENSP00000502693.1",
"transcript_support_level": null,
"aa_start": 1568,
"aa_end": null,
"aa_length": 1722,
"cds_start": 4702,
"cds_end": null,
"cds_length": 5169,
"cdna_start": 5285,
"cdna_end": null,
"cdna_length": 6914,
"mane_select": "NM_020808.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4855C>G",
"hgvs_p": "p.Pro1619Ala",
"transcript": "ENST00000676213.1",
"protein_id": "ENSP00000501897.1",
"transcript_support_level": null,
"aa_start": 1619,
"aa_end": null,
"aa_length": 1773,
"cds_start": 4855,
"cds_end": null,
"cds_length": 5322,
"cdna_start": 5211,
"cdna_end": null,
"cdna_length": 6815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4702C>G",
"hgvs_p": "p.Pro1568Ala",
"transcript": "ENST00000366630.5",
"protein_id": "ENSP00000355589.1",
"transcript_support_level": 5,
"aa_start": 1568,
"aa_end": null,
"aa_length": 1722,
"cds_start": 4702,
"cds_end": null,
"cds_length": 5169,
"cdna_start": 5061,
"cdna_end": null,
"cdna_length": 6690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4702C>G",
"hgvs_p": "p.Pro1568Ala",
"transcript": "NM_001377488.1",
"protein_id": "NP_001364417.1",
"transcript_support_level": null,
"aa_start": 1568,
"aa_end": null,
"aa_length": 1704,
"cds_start": 4702,
"cds_end": null,
"cds_length": 5115,
"cdna_start": 5087,
"cdna_end": null,
"cdna_length": 6662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4702C>G",
"hgvs_p": "p.Pro1568Ala",
"transcript": "ENST00000674749.1",
"protein_id": "ENSP00000502328.1",
"transcript_support_level": null,
"aa_start": 1568,
"aa_end": null,
"aa_length": 1704,
"cds_start": 4702,
"cds_end": null,
"cds_length": 5115,
"cdna_start": 5530,
"cdna_end": null,
"cdna_length": 7105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4702C>G",
"hgvs_p": "p.Pro1568Ala",
"transcript": "ENST00000675407.1",
"protein_id": "ENSP00000502580.1",
"transcript_support_level": null,
"aa_start": 1568,
"aa_end": null,
"aa_length": 1704,
"cds_start": 4702,
"cds_end": null,
"cds_length": 5115,
"cdna_start": 5338,
"cdna_end": null,
"cdna_length": 6912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4702C>G",
"hgvs_p": "p.Pro1568Ala",
"transcript": "ENST00000675685.1",
"protein_id": "ENSP00000501553.1",
"transcript_support_level": null,
"aa_start": 1568,
"aa_end": null,
"aa_length": 1704,
"cds_start": 4702,
"cds_end": null,
"cds_length": 5115,
"cdna_start": 5087,
"cdna_end": null,
"cdna_length": 6637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.1924C>G",
"hgvs_p": "p.Pro642Ala",
"transcript": "ENST00000308942.4",
"protein_id": "ENSP00000309102.4",
"transcript_support_level": 2,
"aa_start": 642,
"aa_end": null,
"aa_length": 778,
"cds_start": 1924,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 2107,
"cdna_end": null,
"cdna_length": 2937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4702C>G",
"hgvs_p": "p.Pro1568Ala",
"transcript": "XM_005273213.5",
"protein_id": "XP_005273270.1",
"transcript_support_level": null,
"aa_start": 1568,
"aa_end": null,
"aa_length": 1722,
"cds_start": 4702,
"cds_end": null,
"cds_length": 5169,
"cdna_start": 5236,
"cdna_end": null,
"cdna_length": 6865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4702C>G",
"hgvs_p": "p.Pro1568Ala",
"transcript": "XM_017001896.2",
"protein_id": "XP_016857385.1",
"transcript_support_level": null,
"aa_start": 1568,
"aa_end": null,
"aa_length": 1722,
"cds_start": 4702,
"cds_end": null,
"cds_length": 5169,
"cdna_start": 5087,
"cdna_end": null,
"cdna_length": 6716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4702C>G",
"hgvs_p": "p.Pro1568Ala",
"transcript": "XM_047426139.1",
"protein_id": "XP_047282095.1",
"transcript_support_level": null,
"aa_start": 1568,
"aa_end": null,
"aa_length": 1722,
"cds_start": 4702,
"cds_end": null,
"cds_length": 5169,
"cdna_start": 28895,
"cdna_end": null,
"cdna_length": 30524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4702C>G",
"hgvs_p": "p.Pro1568Ala",
"transcript": "XM_047426140.1",
"protein_id": "XP_047282096.1",
"transcript_support_level": null,
"aa_start": 1568,
"aa_end": null,
"aa_length": 1722,
"cds_start": 4702,
"cds_end": null,
"cds_length": 5169,
"cdna_start": 5966,
"cdna_end": null,
"cdna_length": 7595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4702C>G",
"hgvs_p": "p.Pro1568Ala",
"transcript": "XM_047426141.1",
"protein_id": "XP_047282097.1",
"transcript_support_level": null,
"aa_start": 1568,
"aa_end": null,
"aa_length": 1722,
"cds_start": 4702,
"cds_end": null,
"cds_length": 5169,
"cdna_start": 5447,
"cdna_end": null,
"cdna_length": 7076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4702C>G",
"hgvs_p": "p.Pro1568Ala",
"transcript": "XM_047426142.1",
"protein_id": "XP_047282098.1",
"transcript_support_level": null,
"aa_start": 1568,
"aa_end": null,
"aa_length": 1722,
"cds_start": 4702,
"cds_end": null,
"cds_length": 5169,
"cdna_start": 5164,
"cdna_end": null,
"cdna_length": 6793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4702C>G",
"hgvs_p": "p.Pro1568Ala",
"transcript": "XM_047426143.1",
"protein_id": "XP_047282099.1",
"transcript_support_level": null,
"aa_start": 1568,
"aa_end": null,
"aa_length": 1722,
"cds_start": 4702,
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"cds_length": 5169,
"cdna_start": 9195,
"cdna_end": null,
"cdna_length": 10824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4702C>G",
"hgvs_p": "p.Pro1568Ala",
"transcript": "XM_047426144.1",
"protein_id": "XP_047282100.1",
"transcript_support_level": null,
"aa_start": 1568,
"aa_end": null,
"aa_length": 1722,
"cds_start": 4702,
"cds_end": null,
"cds_length": 5169,
"cdna_start": 5917,
"cdna_end": null,
"cdna_length": 7546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "c.4702C>G",
"hgvs_p": "p.Pro1568Ala",
"transcript": "XM_047426145.1",
"protein_id": "XP_047282101.1",
"transcript_support_level": null,
"aa_start": 1568,
"aa_end": null,
"aa_length": 1704,
"cds_start": 4702,
"cds_end": null,
"cds_length": 5115,
"cdna_start": 5026,
"cdna_end": null,
"cdna_length": 6601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "n.317C>G",
"hgvs_p": null,
"transcript": "ENST00000495863.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "n.*2370C>G",
"hgvs_p": null,
"transcript": "ENST00000674801.1",
"protein_id": "ENSP00000502186.1",
"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": 6597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"hgvs_c": "n.*2370C>G",
"hgvs_p": null,
"transcript": "ENST00000674801.1",
"protein_id": "ENSP00000502186.1",
"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": 6597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SIPA1L2",
"gene_hgnc_id": 23800,
"dbsnp": "rs202124136",
"frequency_reference_population": 0.000022926259,
"hom_count_reference_population": 0,
"allele_count_reference_population": 37,
"gnomad_exomes_af": 0.0000116312,
"gnomad_genomes_af": 0.000131328,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": 20,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6364130973815918,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.55,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6503,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.14,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.32,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_020808.5",
"gene_symbol": "SIPA1L2",
"hgnc_id": 23800,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.4702C>G",
"hgvs_p": "p.Pro1568Ala"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}