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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: 18-12963363-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=12963363&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 12963363,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001013437.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "c.513C>G",
"hgvs_p": "p.Asn171Lys",
"transcript": "NM_001013437.2",
"protein_id": "NP_001013455.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 421,
"cds_start": 513,
"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": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "c.513C>G",
"hgvs_p": "p.Asn171Lys",
"transcript": "ENST00000399892.7",
"protein_id": "ENSP00000382779.1",
"transcript_support_level": 1,
"aa_start": 171,
"aa_end": null,
"aa_length": 421,
"cds_start": 513,
"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": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "c.513C>G",
"hgvs_p": "p.Asn171Lys",
"transcript": "ENST00000262124.15",
"protein_id": "ENSP00000262124.10",
"transcript_support_level": 1,
"aa_start": 171,
"aa_end": null,
"aa_length": 360,
"cds_start": 513,
"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": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "c.513C>G",
"hgvs_p": "p.Asn171Lys",
"transcript": "ENST00000962384.1",
"protein_id": "ENSP00000632443.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 453,
"cds_start": 513,
"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": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "c.513C>G",
"hgvs_p": "p.Asn171Lys",
"transcript": "ENST00000962386.1",
"protein_id": "ENSP00000632445.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 388,
"cds_start": 513,
"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": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.513C>G",
"hgvs_p": "p.Asn171Lys",
"transcript": "ENST00000906957.1",
"protein_id": "ENSP00000577016.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 374,
"cds_start": 513,
"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": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "c.366C>G",
"hgvs_p": "p.Asn122Lys",
"transcript": "ENST00000906956.1",
"protein_id": "ENSP00000577015.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 372,
"cds_start": 366,
"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": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "c.513C>G",
"hgvs_p": "p.Asn171Lys",
"transcript": "NM_031216.4",
"protein_id": "NP_112493.2",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 360,
"cds_start": 513,
"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": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "c.366C>G",
"hgvs_p": "p.Asn122Lys",
"transcript": "ENST00000962385.1",
"protein_id": "ENSP00000632444.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 325,
"cds_start": 366,
"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": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.513C>G",
"hgvs_p": "p.Asn171Lys",
"transcript": "ENST00000587761.1",
"protein_id": "ENSP00000466234.1",
"transcript_support_level": 5,
"aa_start": 171,
"aa_end": null,
"aa_length": 262,
"cds_start": 513,
"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": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "c.462C>G",
"hgvs_p": "p.Asn154Lys",
"transcript": "ENST00000589446.5",
"protein_id": "ENSP00000467276.1",
"transcript_support_level": 5,
"aa_start": 154,
"aa_end": null,
"aa_length": 188,
"cds_start": 462,
"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": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "c.366C>G",
"hgvs_p": "p.Asn122Lys",
"transcript": "ENST00000585730.5",
"protein_id": "ENSP00000466959.1",
"transcript_support_level": 2,
"aa_start": 122,
"aa_end": null,
"aa_length": 157,
"cds_start": 366,
"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": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "c.513C>G",
"hgvs_p": "p.Asn171Lys",
"transcript": "XM_011525742.4",
"protein_id": "XP_011524044.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 441,
"cds_start": 513,
"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": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "c.366C>G",
"hgvs_p": "p.Asn122Lys",
"transcript": "XM_011525743.3",
"protein_id": "XP_011524045.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 392,
"cds_start": 366,
"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": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "c.513C>G",
"hgvs_p": "p.Asn171Lys",
"transcript": "XM_011525744.2",
"protein_id": "XP_011524046.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 380,
"cds_start": 513,
"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": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "c.366C>G",
"hgvs_p": "p.Asn122Lys",
"transcript": "XM_005258152.5",
"protein_id": "XP_005258209.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 372,
"cds_start": 366,
"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": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "c.366C>G",
"hgvs_p": "p.Asn122Lys",
"transcript": "XM_017026025.2",
"protein_id": "XP_016881514.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 311,
"cds_start": 366,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "n.684C>G",
"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": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "n.624C>G",
"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "n.624C>G",
"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": "rs199814016",
"frequency_reference_population": 6.84577e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84577e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5097171664237976,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.379,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9972,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.181,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001013437.2",
"gene_symbol": "SEH1L",
"hgnc_id": 30379,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.513C>G",
"hgvs_p": "p.Asn171Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}