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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: 4-10445282-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=10445282&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 10445282,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_053042.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF518B",
"gene_hgnc_id": 29365,
"hgvs_c": "c.1047T>A",
"hgvs_p": "p.Asp349Glu",
"transcript": "NM_053042.3",
"protein_id": "NP_444270.2",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 1074,
"cds_start": 1047,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000326756.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_053042.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF518B",
"gene_hgnc_id": 29365,
"hgvs_c": "c.1047T>A",
"hgvs_p": "p.Asp349Glu",
"transcript": "ENST00000326756.4",
"protein_id": "ENSP00000317614.3",
"transcript_support_level": 3,
"aa_start": 349,
"aa_end": null,
"aa_length": 1074,
"cds_start": 1047,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_053042.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000326756.4"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF518B",
"gene_hgnc_id": 29365,
"hgvs_c": "c.1047T>A",
"hgvs_p": "p.Asp349Glu",
"transcript": "NM_001375816.1",
"protein_id": "NP_001362745.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 1074,
"cds_start": 1047,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375816.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF518B",
"gene_hgnc_id": 29365,
"hgvs_c": "c.1047T>A",
"hgvs_p": "p.Asp349Glu",
"transcript": "NM_001375817.1",
"protein_id": "NP_001362746.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 1074,
"cds_start": 1047,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375817.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF518B",
"gene_hgnc_id": 29365,
"hgvs_c": "c.1047T>A",
"hgvs_p": "p.Asp349Glu",
"transcript": "ENST00000908724.1",
"protein_id": "ENSP00000578783.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 1074,
"cds_start": 1047,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908724.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF518B",
"gene_hgnc_id": 29365,
"hgvs_c": "c.1047T>A",
"hgvs_p": "p.Asp349Glu",
"transcript": "ENST00000908725.1",
"protein_id": "ENSP00000578784.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 1074,
"cds_start": 1047,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908725.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF518B",
"gene_hgnc_id": 29365,
"hgvs_c": "c.1047T>A",
"hgvs_p": "p.Asp349Glu",
"transcript": "ENST00000908726.1",
"protein_id": "ENSP00000578785.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 1074,
"cds_start": 1047,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908726.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF518B",
"gene_hgnc_id": 29365,
"hgvs_c": "c.1047T>A",
"hgvs_p": "p.Asp349Glu",
"transcript": "ENST00000918783.1",
"protein_id": "ENSP00000588842.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 1074,
"cds_start": 1047,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918783.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF518B",
"gene_hgnc_id": 29365,
"hgvs_c": "c.1047T>A",
"hgvs_p": "p.Asp349Glu",
"transcript": "ENST00000966268.1",
"protein_id": "ENSP00000636327.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 1074,
"cds_start": 1047,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966268.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF518B",
"gene_hgnc_id": 29365,
"hgvs_c": "c.1047T>A",
"hgvs_p": "p.Asp349Glu",
"transcript": "ENST00000966269.1",
"protein_id": "ENSP00000636328.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 1074,
"cds_start": 1047,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966269.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF518B",
"gene_hgnc_id": 29365,
"hgvs_c": "c.1047T>A",
"hgvs_p": "p.Asp349Glu",
"transcript": "ENST00000966270.1",
"protein_id": "ENSP00000636329.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 1074,
"cds_start": 1047,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966270.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF518B",
"gene_hgnc_id": 29365,
"hgvs_c": "c.1047T>A",
"hgvs_p": "p.Asp349Glu",
"transcript": "ENST00000966271.1",
"protein_id": "ENSP00000636330.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 1074,
"cds_start": 1047,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966271.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF518B",
"gene_hgnc_id": 29365,
"hgvs_c": "c.1047T>A",
"hgvs_p": "p.Asp349Glu",
"transcript": "ENST00000966272.1",
"protein_id": "ENSP00000636331.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 1074,
"cds_start": 1047,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966272.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF518B",
"gene_hgnc_id": 29365,
"hgvs_c": "c.1047T>A",
"hgvs_p": "p.Asp349Glu",
"transcript": "ENST00000966273.1",
"protein_id": "ENSP00000636332.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 1074,
"cds_start": 1047,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966273.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF518B",
"gene_hgnc_id": 29365,
"hgvs_c": "c.1047T>A",
"hgvs_p": "p.Asp349Glu",
"transcript": "ENST00000966274.1",
"protein_id": "ENSP00000636333.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 1074,
"cds_start": 1047,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966274.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF518B",
"gene_hgnc_id": 29365,
"hgvs_c": "c.1047T>A",
"hgvs_p": "p.Asp349Glu",
"transcript": "XM_017008786.2",
"protein_id": "XP_016864275.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 1074,
"cds_start": 1047,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008786.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF518B",
"gene_hgnc_id": 29365,
"hgvs_c": "c.1047T>A",
"hgvs_p": "p.Asp349Glu",
"transcript": "XM_024454264.2",
"protein_id": "XP_024310032.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 1074,
"cds_start": 1047,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024454264.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF518B",
"gene_hgnc_id": 29365,
"hgvs_c": "c.1047T>A",
"hgvs_p": "p.Asp349Glu",
"transcript": "XM_047416333.1",
"protein_id": "XP_047272289.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 1074,
"cds_start": 1047,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416333.1"
}
],
"gene_symbol": "ZNF518B",
"gene_hgnc_id": 29365,
"dbsnp": "rs10016022",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 6.84053e-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": 0.18923014402389526,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.188,
"revel_prediction": "Benign",
"alphamissense_score": 0.4104,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.517,
"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": 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_053042.3",
"gene_symbol": "ZNF518B",
"hgnc_id": 29365,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.1047T>A",
"hgvs_p": "p.Asp349Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}