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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: 18-12984145-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=12984145&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SEH1L",
"hgnc_id": 30379,
"hgvs_c": "c.1025C>G",
"hgvs_p": "p.Thr342Ser",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001013437.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.0578,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.54,
"chr": "18",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.04124435782432556,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 421,
"aa_ref": "T",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1851,
"cdna_start": 1136,
"cds_end": null,
"cds_length": 1266,
"cds_start": 1025,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001013437.2",
"gene_hgnc_id": 30379,
"gene_symbol": "SEH1L",
"hgvs_c": "c.1025C>G",
"hgvs_p": "p.Thr342Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000399892.7",
"protein_coding": true,
"protein_id": "NP_001013455.1",
"strand": true,
"transcript": "NM_001013437.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 421,
"aa_ref": "T",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1851,
"cdna_start": 1136,
"cds_end": null,
"cds_length": 1266,
"cds_start": 1025,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000399892.7",
"gene_hgnc_id": 30379,
"gene_symbol": "SEH1L",
"hgvs_c": "c.1025C>G",
"hgvs_p": "p.Thr342Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001013437.2",
"protein_coding": true,
"protein_id": "ENSP00000382779.1",
"strand": true,
"transcript": "ENST00000399892.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 360,
"aa_ref": "T",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3494,
"cdna_start": 1152,
"cds_end": null,
"cds_length": 1083,
"cds_start": 1025,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000262124.15",
"gene_hgnc_id": 30379,
"gene_symbol": "SEH1L",
"hgvs_c": "c.1025C>G",
"hgvs_p": "p.Thr342Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000262124.10",
"strand": true,
"transcript": "ENST00000262124.15",
"transcript_support_level": 1
},
{
"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": 5206,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000590843.1",
"gene_hgnc_id": 30379,
"gene_symbol": "SEH1L",
"hgvs_c": "n.2869C>G",
"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": "ENST00000590843.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4072,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000592582.5",
"gene_hgnc_id": 30379,
"gene_symbol": "SEH1L",
"hgvs_c": "n.3548C>G",
"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": "ENST00000592582.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 453,
"aa_ref": "T",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2083,
"cdna_start": 1232,
"cds_end": null,
"cds_length": 1362,
"cds_start": 1121,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000962384.1",
"gene_hgnc_id": 30379,
"gene_symbol": "SEH1L",
"hgvs_c": "c.1121C>G",
"hgvs_p": "p.Thr374Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632443.1",
"strand": true,
"transcript": "ENST00000962384.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 388,
"aa_ref": "T",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1728,
"cdna_start": 1017,
"cds_end": null,
"cds_length": 1167,
"cds_start": 926,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000962386.1",
"gene_hgnc_id": 30379,
"gene_symbol": "SEH1L",
"hgvs_c": "c.926C>G",
"hgvs_p": "p.Thr309Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632445.1",
"strand": true,
"transcript": "ENST00000962386.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 374,
"aa_ref": "T",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1696,
"cdna_start": 976,
"cds_end": null,
"cds_length": 1125,
"cds_start": 884,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000906957.1",
"gene_hgnc_id": 30379,
"gene_symbol": "SEH1L",
"hgvs_c": "c.884C>G",
"hgvs_p": "p.Thr295Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577016.1",
"strand": true,
"transcript": "ENST00000906957.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 372,
"aa_ref": "T",
"aa_start": 293,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1737,
"cdna_start": 1019,
"cds_end": null,
"cds_length": 1119,
"cds_start": 878,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000906956.1",
"gene_hgnc_id": 30379,
"gene_symbol": "SEH1L",
"hgvs_c": "c.878C>G",
"hgvs_p": "p.Thr293Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577015.1",
"strand": true,
"transcript": "ENST00000906956.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 360,
"aa_ref": "T",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3478,
"cdna_start": 1136,
"cds_end": null,
"cds_length": 1083,
"cds_start": 1025,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_031216.4",
"gene_hgnc_id": 30379,
"gene_symbol": "SEH1L",
"hgvs_c": "c.1025C>G",
"hgvs_p": "p.Thr342Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_112493.2",
"strand": true,
"transcript": "NM_031216.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 325,
"aa_ref": "T",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1586,
"cdna_start": 875,
"cds_end": null,
"cds_length": 978,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000962385.1",
"gene_hgnc_id": 30379,
"gene_symbol": "SEH1L",
"hgvs_c": "c.737C>G",
"hgvs_p": "p.Thr246Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632444.1",
"strand": true,
"transcript": "ENST00000962385.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 441,
"aa_ref": "T",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1911,
"cdna_start": 1196,
"cds_end": null,
"cds_length": 1326,
"cds_start": 1085,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011525742.4",
"gene_hgnc_id": 30379,
"gene_symbol": "SEH1L",
"hgvs_c": "c.1085C>G",
"hgvs_p": "p.Thr362Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011524044.1",
"strand": true,
"transcript": "XM_011525742.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 392,
"aa_ref": "T",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1764,
"cdna_start": 1049,
"cds_end": null,
"cds_length": 1179,
"cds_start": 938,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011525743.3",
"gene_hgnc_id": 30379,
"gene_symbol": "SEH1L",
"hgvs_c": "c.938C>G",
"hgvs_p": "p.Thr313Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011524045.1",
"strand": true,
"transcript": "XM_011525743.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 380,
"aa_ref": "T",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3538,
"cdna_start": 1196,
"cds_end": null,
"cds_length": 1143,
"cds_start": 1085,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011525744.2",
"gene_hgnc_id": 30379,
"gene_symbol": "SEH1L",
"hgvs_c": "c.1085C>G",
"hgvs_p": "p.Thr362Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011524046.1",
"strand": true,
"transcript": "XM_011525744.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 372,
"aa_ref": "T",
"aa_start": 293,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1704,
"cdna_start": 989,
"cds_end": null,
"cds_length": 1119,
"cds_start": 878,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_005258152.5",
"gene_hgnc_id": 30379,
"gene_symbol": "SEH1L",
"hgvs_c": "c.878C>G",
"hgvs_p": "p.Thr293Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005258209.1",
"strand": true,
"transcript": "XM_005258152.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 311,
"aa_ref": "T",
"aa_start": 293,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3331,
"cdna_start": 989,
"cds_end": null,
"cds_length": 936,
"cds_start": 878,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_017026025.2",
"gene_hgnc_id": 30379,
"gene_symbol": "SEH1L",
"hgvs_c": "c.878C>G",
"hgvs_p": "p.Thr293Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016881514.1",
"strand": true,
"transcript": "XM_017026025.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs6505776",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 30379,
"gene_symbol": "SEH1L",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.369,
"pos": 12984145,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.054,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001013437.2"
}
]
}