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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: 3-136151356-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=136151356&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 136151356,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_018133.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "Q",
"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": "MSL2",
"gene_hgnc_id": 25544,
"hgvs_c": "c.1525A>C",
"hgvs_p": "p.Lys509Gln",
"transcript": "NM_018133.4",
"protein_id": "NP_060603.2",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 577,
"cds_start": 1525,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000309993.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018133.4"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": true,
"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": "MSL2",
"gene_hgnc_id": 25544,
"hgvs_c": "c.1525A>C",
"hgvs_p": "p.Lys509Gln",
"transcript": "ENST00000309993.3",
"protein_id": "ENSP00000311827.2",
"transcript_support_level": 1,
"aa_start": 509,
"aa_end": null,
"aa_length": 577,
"cds_start": 1525,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018133.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000309993.3"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"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": "MSL2",
"gene_hgnc_id": 25544,
"hgvs_c": "c.1513A>C",
"hgvs_p": "p.Lys505Gln",
"transcript": "ENST00000703105.1",
"protein_id": "ENSP00000515172.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 573,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703105.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"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": "MSL2",
"gene_hgnc_id": 25544,
"hgvs_c": "c.1303A>C",
"hgvs_p": "p.Lys435Gln",
"transcript": "NM_001145417.2",
"protein_id": "NP_001138889.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 503,
"cds_start": 1303,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145417.2"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"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": "MSL2",
"gene_hgnc_id": 25544,
"hgvs_c": "c.1303A>C",
"hgvs_p": "p.Lys435Gln",
"transcript": "ENST00000434835.2",
"protein_id": "ENSP00000387948.2",
"transcript_support_level": 2,
"aa_start": 435,
"aa_end": null,
"aa_length": 503,
"cds_start": 1303,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434835.2"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"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": "MSL2",
"gene_hgnc_id": 25544,
"hgvs_c": "c.1303A>C",
"hgvs_p": "p.Lys435Gln",
"transcript": "ENST00000473093.2",
"protein_id": "ENSP00000418655.2",
"transcript_support_level": 4,
"aa_start": 435,
"aa_end": null,
"aa_length": 503,
"cds_start": 1303,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000473093.2"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"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": "MSL2",
"gene_hgnc_id": 25544,
"hgvs_c": "c.1303A>C",
"hgvs_p": "p.Lys435Gln",
"transcript": "ENST00000481989.2",
"protein_id": "ENSP00000418752.2",
"transcript_support_level": 4,
"aa_start": 435,
"aa_end": null,
"aa_length": 503,
"cds_start": 1303,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000481989.2"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"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": "MSL2",
"gene_hgnc_id": 25544,
"hgvs_c": "c.1303A>C",
"hgvs_p": "p.Lys435Gln",
"transcript": "ENST00000491050.2",
"protein_id": "ENSP00000417956.2",
"transcript_support_level": 4,
"aa_start": 435,
"aa_end": null,
"aa_length": 503,
"cds_start": 1303,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000491050.2"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"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": "MSL2",
"gene_hgnc_id": 25544,
"hgvs_c": "c.1303A>C",
"hgvs_p": "p.Lys435Gln",
"transcript": "ENST00000703103.1",
"protein_id": "ENSP00000515170.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 503,
"cds_start": 1303,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703103.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"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": "MSL2",
"gene_hgnc_id": 25544,
"hgvs_c": "c.1303A>C",
"hgvs_p": "p.Lys435Gln",
"transcript": "ENST00000703104.1",
"protein_id": "ENSP00000515171.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 503,
"cds_start": 1303,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703104.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"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": "MSL2",
"gene_hgnc_id": 25544,
"hgvs_c": "c.1303A>C",
"hgvs_p": "p.Lys435Gln",
"transcript": "XM_005247571.4",
"protein_id": "XP_005247628.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 503,
"cds_start": 1303,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005247571.4"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"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": "MSL2",
"gene_hgnc_id": 25544,
"hgvs_c": "c.1303A>C",
"hgvs_p": "p.Lys435Gln",
"transcript": "XM_011512949.3",
"protein_id": "XP_011511251.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 503,
"cds_start": 1303,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512949.3"
}
],
"gene_symbol": "MSL2",
"gene_hgnc_id": 25544,
"dbsnp": "rs1559954217",
"frequency_reference_population": 0.0000013681257,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136813,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4192515015602112,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.567,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9968,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.015,
"phylop100way_prediction": "Pathogenic",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_018133.4",
"gene_symbol": "MSL2",
"hgnc_id": 25544,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1525A>C",
"hgvs_p": "p.Lys509Gln"
}
],
"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
}