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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: 18-12971216-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=12971216&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 12971216,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001013437.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "c.585C>T",
"hgvs_p": "p.Ala195Ala",
"transcript": "NM_001013437.2",
"protein_id": "NP_001013455.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 421,
"cds_start": 585,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000399892.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001013437.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "c.585C>T",
"hgvs_p": "p.Ala195Ala",
"transcript": "ENST00000399892.7",
"protein_id": "ENSP00000382779.1",
"transcript_support_level": 1,
"aa_start": 195,
"aa_end": null,
"aa_length": 421,
"cds_start": 585,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001013437.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399892.7"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "c.585C>T",
"hgvs_p": "p.Ala195Ala",
"transcript": "ENST00000262124.15",
"protein_id": "ENSP00000262124.10",
"transcript_support_level": 1,
"aa_start": 195,
"aa_end": null,
"aa_length": 360,
"cds_start": 585,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262124.15"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "c.681C>T",
"hgvs_p": "p.Ala227Ala",
"transcript": "ENST00000962384.1",
"protein_id": "ENSP00000632443.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 453,
"cds_start": 681,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962384.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "c.585C>T",
"hgvs_p": "p.Ala195Ala",
"transcript": "ENST00000962386.1",
"protein_id": "ENSP00000632445.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 388,
"cds_start": 585,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962386.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "c.585C>T",
"hgvs_p": "p.Ala195Ala",
"transcript": "ENST00000906957.1",
"protein_id": "ENSP00000577016.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 374,
"cds_start": 585,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906957.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "c.438C>T",
"hgvs_p": "p.Ala146Ala",
"transcript": "ENST00000906956.1",
"protein_id": "ENSP00000577015.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 372,
"cds_start": 438,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906956.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "c.585C>T",
"hgvs_p": "p.Ala195Ala",
"transcript": "NM_031216.4",
"protein_id": "NP_112493.2",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 360,
"cds_start": 585,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031216.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "c.438C>T",
"hgvs_p": "p.Ala146Ala",
"transcript": "ENST00000962385.1",
"protein_id": "ENSP00000632444.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 325,
"cds_start": 438,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962385.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "c.645C>T",
"hgvs_p": "p.Ala215Ala",
"transcript": "ENST00000587761.1",
"protein_id": "ENSP00000466234.1",
"transcript_support_level": 5,
"aa_start": 215,
"aa_end": null,
"aa_length": 262,
"cds_start": 645,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587761.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "c.534C>T",
"hgvs_p": "p.Ala178Ala",
"transcript": "ENST00000589446.5",
"protein_id": "ENSP00000467276.1",
"transcript_support_level": 5,
"aa_start": 178,
"aa_end": null,
"aa_length": 188,
"cds_start": 534,
"cds_end": null,
"cds_length": 569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589446.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "c.438C>T",
"hgvs_p": "p.Ala146Ala",
"transcript": "ENST00000585730.5",
"protein_id": "ENSP00000466959.1",
"transcript_support_level": 2,
"aa_start": 146,
"aa_end": null,
"aa_length": 157,
"cds_start": 438,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585730.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "c.645C>T",
"hgvs_p": "p.Ala215Ala",
"transcript": "XM_011525742.4",
"protein_id": "XP_011524044.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 441,
"cds_start": 645,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525742.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "c.498C>T",
"hgvs_p": "p.Ala166Ala",
"transcript": "XM_011525743.3",
"protein_id": "XP_011524045.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 392,
"cds_start": 498,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525743.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "c.645C>T",
"hgvs_p": "p.Ala215Ala",
"transcript": "XM_011525744.2",
"protein_id": "XP_011524046.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 380,
"cds_start": 645,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525744.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "c.438C>T",
"hgvs_p": "p.Ala146Ala",
"transcript": "XM_005258152.5",
"protein_id": "XP_005258209.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 372,
"cds_start": 438,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005258152.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "c.438C>T",
"hgvs_p": "p.Ala146Ala",
"transcript": "XM_017026025.2",
"protein_id": "XP_016881514.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 311,
"cds_start": 438,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026025.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "n.756C>T",
"hgvs_p": null,
"transcript": "ENST00000588251.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000588251.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "n.756C>T",
"hgvs_p": null,
"transcript": "XR_007066232.1",
"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": "XR_007066232.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "n.696C>T",
"hgvs_p": null,
"transcript": "XR_007066233.1",
"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": "XR_007066233.1"
}
],
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"dbsnp": "rs142041554",
"frequency_reference_population": 0.0053674947,
"hom_count_reference_population": 40,
"allele_count_reference_population": 8661,
"gnomad_exomes_af": 0.00550719,
"gnomad_genomes_af": 0.00402654,
"gnomad_exomes_ac": 8048,
"gnomad_genomes_ac": 613,
"gnomad_exomes_homalt": 37,
"gnomad_genomes_homalt": 3,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.25999999046325684,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.135,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001013437.2",
"gene_symbol": "SEH1L",
"hgnc_id": 30379,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.585C>T",
"hgvs_p": "p.Ala195Ala"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}