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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: 20-45948976-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=45948976&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 45948976,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_022095.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.4006G>A",
"hgvs_p": "p.Val1336Ile",
"transcript": "NM_022095.4",
"protein_id": "NP_071378.1",
"transcript_support_level": null,
"aa_start": 1336,
"aa_end": null,
"aa_length": 1342,
"cds_start": 4006,
"cds_end": null,
"cds_length": 4029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000322927.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022095.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.4006G>A",
"hgvs_p": "p.Val1336Ile",
"transcript": "ENST00000322927.3",
"protein_id": "ENSP00000325326.2",
"transcript_support_level": 1,
"aa_start": 1336,
"aa_end": null,
"aa_length": 1342,
"cds_start": 4006,
"cds_end": null,
"cds_length": 4029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022095.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322927.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.4048G>A",
"hgvs_p": "p.Val1350Ile",
"transcript": "ENST00000944756.1",
"protein_id": "ENSP00000614815.1",
"transcript_support_level": null,
"aa_start": 1350,
"aa_end": null,
"aa_length": 1356,
"cds_start": 4048,
"cds_end": null,
"cds_length": 4071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944756.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.4030G>A",
"hgvs_p": "p.Val1344Ile",
"transcript": "ENST00000862676.1",
"protein_id": "ENSP00000532735.1",
"transcript_support_level": null,
"aa_start": 1344,
"aa_end": null,
"aa_length": 1350,
"cds_start": 4030,
"cds_end": null,
"cds_length": 4053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862676.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.4006G>A",
"hgvs_p": "p.Val1336Ile",
"transcript": "ENST00000862677.1",
"protein_id": "ENSP00000532736.1",
"transcript_support_level": null,
"aa_start": 1336,
"aa_end": null,
"aa_length": 1342,
"cds_start": 4006,
"cds_end": null,
"cds_length": 4029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862677.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.4003G>A",
"hgvs_p": "p.Val1335Ile",
"transcript": "ENST00000862673.1",
"protein_id": "ENSP00000532732.1",
"transcript_support_level": null,
"aa_start": 1335,
"aa_end": null,
"aa_length": 1341,
"cds_start": 4003,
"cds_end": null,
"cds_length": 4026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862673.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.4003G>A",
"hgvs_p": "p.Val1335Ile",
"transcript": "ENST00000862675.1",
"protein_id": "ENSP00000532734.1",
"transcript_support_level": null,
"aa_start": 1335,
"aa_end": null,
"aa_length": 1341,
"cds_start": 4003,
"cds_end": null,
"cds_length": 4026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862675.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.4003G>A",
"hgvs_p": "p.Val1335Ile",
"transcript": "ENST00000862678.1",
"protein_id": "ENSP00000532737.1",
"transcript_support_level": null,
"aa_start": 1335,
"aa_end": null,
"aa_length": 1341,
"cds_start": 4003,
"cds_end": null,
"cds_length": 4026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862678.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.4000G>A",
"hgvs_p": "p.Val1334Ile",
"transcript": "ENST00000944757.1",
"protein_id": "ENSP00000614816.1",
"transcript_support_level": null,
"aa_start": 1334,
"aa_end": null,
"aa_length": 1340,
"cds_start": 4000,
"cds_end": null,
"cds_length": 4023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944757.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.3922G>A",
"hgvs_p": "p.Val1308Ile",
"transcript": "ENST00000862674.1",
"protein_id": "ENSP00000532733.1",
"transcript_support_level": null,
"aa_start": 1308,
"aa_end": null,
"aa_length": 1314,
"cds_start": 3922,
"cds_end": null,
"cds_length": 3945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862674.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.4006G>A",
"hgvs_p": "p.Val1336Ile",
"transcript": "XM_047440363.1",
"protein_id": "XP_047296319.1",
"transcript_support_level": null,
"aa_start": 1336,
"aa_end": null,
"aa_length": 1342,
"cds_start": 4006,
"cds_end": null,
"cds_length": 4029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440363.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.4003G>A",
"hgvs_p": "p.Val1335Ile",
"transcript": "XM_005260504.5",
"protein_id": "XP_005260561.1",
"transcript_support_level": null,
"aa_start": 1335,
"aa_end": null,
"aa_length": 1341,
"cds_start": 4003,
"cds_end": null,
"cds_length": 4026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005260504.5"
}
],
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"dbsnp": "rs372687838",
"frequency_reference_population": 0.00015118526,
"hom_count_reference_population": 1,
"allele_count_reference_population": 244,
"gnomad_exomes_af": 0.000153943,
"gnomad_genomes_af": 0.000124729,
"gnomad_exomes_ac": 225,
"gnomad_genomes_ac": 19,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03601759672164917,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.099,
"revel_prediction": "Benign",
"alphamissense_score": 0.0821,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.494,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BS1_Supporting",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1_Supporting"
],
"verdict": "Likely_benign",
"transcript": "NM_022095.4",
"gene_symbol": "ZNF335",
"hgnc_id": 15807,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4006G>A",
"hgvs_p": "p.Val1336Ile"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}