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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: 18-33745021-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=33745021&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 33745021,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_030632.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "c.5173G>A",
"hgvs_p": "p.Asp1725Asn",
"transcript": "NM_030632.3",
"protein_id": "NP_085135.1",
"transcript_support_level": null,
"aa_start": 1725,
"aa_end": null,
"aa_length": 2248,
"cds_start": 5173,
"cds_end": null,
"cds_length": 6747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000269197.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030632.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "c.5173G>A",
"hgvs_p": "p.Asp1725Asn",
"transcript": "ENST00000269197.12",
"protein_id": "ENSP00000269197.4",
"transcript_support_level": 5,
"aa_start": 1725,
"aa_end": null,
"aa_length": 2248,
"cds_start": 5173,
"cds_end": null,
"cds_length": 6747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030632.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000269197.12"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "c.5176G>A",
"hgvs_p": "p.Asp1726Asn",
"transcript": "ENST00000696964.1",
"protein_id": "ENSP00000513003.1",
"transcript_support_level": null,
"aa_start": 1726,
"aa_end": null,
"aa_length": 2249,
"cds_start": 5176,
"cds_end": null,
"cds_length": 6750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696964.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "c.5053G>A",
"hgvs_p": "p.Asp1685Asn",
"transcript": "ENST00000681521.1",
"protein_id": "ENSP00000506037.1",
"transcript_support_level": null,
"aa_start": 1685,
"aa_end": null,
"aa_length": 2208,
"cds_start": 5053,
"cds_end": null,
"cds_length": 6627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681521.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "c.5176G>A",
"hgvs_p": "p.Asp1726Asn",
"transcript": "XM_005258356.2",
"protein_id": "XP_005258413.1",
"transcript_support_level": null,
"aa_start": 1726,
"aa_end": null,
"aa_length": 2249,
"cds_start": 5176,
"cds_end": null,
"cds_length": 6750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005258356.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "c.5149G>A",
"hgvs_p": "p.Asp1717Asn",
"transcript": "XM_011526205.3",
"protein_id": "XP_011524507.1",
"transcript_support_level": null,
"aa_start": 1717,
"aa_end": null,
"aa_length": 2240,
"cds_start": 5149,
"cds_end": null,
"cds_length": 6723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526205.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "c.5095G>A",
"hgvs_p": "p.Asp1699Asn",
"transcript": "XM_011526206.3",
"protein_id": "XP_011524508.1",
"transcript_support_level": null,
"aa_start": 1699,
"aa_end": null,
"aa_length": 2222,
"cds_start": 5095,
"cds_end": null,
"cds_length": 6669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526206.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "c.5095G>A",
"hgvs_p": "p.Asp1699Asn",
"transcript": "XM_017026012.1",
"protein_id": "XP_016881501.1",
"transcript_support_level": null,
"aa_start": 1699,
"aa_end": null,
"aa_length": 2222,
"cds_start": 5095,
"cds_end": null,
"cds_length": 6669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026012.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "c.5005G>A",
"hgvs_p": "p.Asp1669Asn",
"transcript": "XM_011526209.2",
"protein_id": "XP_011524511.1",
"transcript_support_level": null,
"aa_start": 1669,
"aa_end": null,
"aa_length": 2192,
"cds_start": 5005,
"cds_end": null,
"cds_length": 6579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526209.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "c.5005G>A",
"hgvs_p": "p.Asp1669Asn",
"transcript": "XM_011526212.2",
"protein_id": "XP_011524514.1",
"transcript_support_level": null,
"aa_start": 1669,
"aa_end": null,
"aa_length": 2192,
"cds_start": 5005,
"cds_end": null,
"cds_length": 6579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526212.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "c.5005G>A",
"hgvs_p": "p.Asp1669Asn",
"transcript": "XM_024451269.2",
"protein_id": "XP_024307037.1",
"transcript_support_level": null,
"aa_start": 1669,
"aa_end": null,
"aa_length": 2192,
"cds_start": 5005,
"cds_end": null,
"cds_length": 6579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451269.2"
}
],
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"dbsnp": "rs201072457",
"frequency_reference_population": 0.00015861352,
"hom_count_reference_population": 2,
"allele_count_reference_population": 256,
"gnomad_exomes_af": 0.000162141,
"gnomad_genomes_af": 0.000124757,
"gnomad_exomes_ac": 237,
"gnomad_genomes_ac": 19,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06967470049858093,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.162,
"revel_prediction": "Benign",
"alphamissense_score": 0.1384,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.635,
"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": -18,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -18,
"benign_score": 18,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_030632.3",
"gene_symbol": "ASXL3",
"hgnc_id": 29357,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5173G>A",
"hgvs_p": "p.Asp1725Asn"
}
],
"clinvar_disease": "ASXL3-related disorder,Inborn genetic diseases,Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:2",
"phenotype_combined": "not specified|not provided|Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome|ASXL3-related disorder|Inborn genetic diseases",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}