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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: 6-149727070-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=149727070&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 149727070,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_198887.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP43",
"gene_hgnc_id": 21182,
"hgvs_c": "c.1042A>C",
"hgvs_p": "p.Ser348Arg",
"transcript": "NM_198887.3",
"protein_id": "NP_942590.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 380,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000340413.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198887.3"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP43",
"gene_hgnc_id": 21182,
"hgvs_c": "c.1042A>C",
"hgvs_p": "p.Ser348Arg",
"transcript": "ENST00000340413.7",
"protein_id": "ENSP00000342262.2",
"transcript_support_level": 1,
"aa_start": 348,
"aa_end": null,
"aa_length": 380,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198887.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340413.7"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP43",
"gene_hgnc_id": 21182,
"hgvs_c": "c.1120A>C",
"hgvs_p": "p.Ser374Arg",
"transcript": "ENST00000917625.1",
"protein_id": "ENSP00000587684.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 406,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917625.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP43",
"gene_hgnc_id": 21182,
"hgvs_c": "c.1042A>C",
"hgvs_p": "p.Ser348Arg",
"transcript": "ENST00000917622.1",
"protein_id": "ENSP00000587681.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 380,
"cds_start": 1042,
"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": "ENST00000917622.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP43",
"gene_hgnc_id": 21182,
"hgvs_c": "c.1042A>C",
"hgvs_p": "p.Ser348Arg",
"transcript": "ENST00000917623.1",
"protein_id": "ENSP00000587682.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 380,
"cds_start": 1042,
"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": "ENST00000917623.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP43",
"gene_hgnc_id": 21182,
"hgvs_c": "c.1039A>C",
"hgvs_p": "p.Ser347Arg",
"transcript": "ENST00000946973.1",
"protein_id": "ENSP00000617032.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 379,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946973.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP43",
"gene_hgnc_id": 21182,
"hgvs_c": "c.964A>C",
"hgvs_p": "p.Ser322Arg",
"transcript": "ENST00000917624.1",
"protein_id": "ENSP00000587683.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 354,
"cds_start": 964,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917624.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP43",
"gene_hgnc_id": 21182,
"hgvs_c": "c.754A>C",
"hgvs_p": "p.Ser252Arg",
"transcript": "ENST00000367404.8",
"protein_id": "ENSP00000356374.4",
"transcript_support_level": 2,
"aa_start": 252,
"aa_end": null,
"aa_length": 284,
"cds_start": 754,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367404.8"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP43",
"gene_hgnc_id": 21182,
"hgvs_c": "c.1042A>C",
"hgvs_p": "p.Ser348Arg",
"transcript": "XM_047418728.1",
"protein_id": "XP_047274684.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 380,
"cds_start": 1042,
"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_047418728.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP43",
"gene_hgnc_id": 21182,
"hgvs_c": "c.*1320A>C",
"hgvs_p": null,
"transcript": "XM_005266960.6",
"protein_id": "XP_005267017.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 333,
"cds_start": null,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005266960.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP43",
"gene_hgnc_id": 21182,
"hgvs_c": "n.1076A>C",
"hgvs_p": null,
"transcript": "NR_104456.2",
"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_104456.2"
}
],
"gene_symbol": "NUP43",
"gene_hgnc_id": 21182,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.15952032804489136,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.065,
"revel_prediction": "Benign",
"alphamissense_score": 0.2862,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.918,
"phylop100way_prediction": "Uncertain_significance",
"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": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_198887.3",
"gene_symbol": "NUP43",
"hgnc_id": 21182,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1042A>C",
"hgvs_p": "p.Ser348Arg"
}
],
"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
}