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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: 18-33744850-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=33744850&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 33744850,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000269197.12",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"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.5002G>A",
"hgvs_p": "p.Val1668Met",
"transcript": "NM_030632.3",
"protein_id": "NP_085135.1",
"transcript_support_level": null,
"aa_start": 1668,
"aa_end": null,
"aa_length": 2248,
"cds_start": 5002,
"cds_end": null,
"cds_length": 6747,
"cdna_start": 5415,
"cdna_end": null,
"cdna_length": 11760,
"mane_select": "ENST00000269197.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.5002G>A",
"hgvs_p": "p.Val1668Met",
"transcript": "ENST00000269197.12",
"protein_id": "ENSP00000269197.4",
"transcript_support_level": 5,
"aa_start": 1668,
"aa_end": null,
"aa_length": 2248,
"cds_start": 5002,
"cds_end": null,
"cds_length": 6747,
"cdna_start": 5415,
"cdna_end": null,
"cdna_length": 11760,
"mane_select": "NM_030632.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.Val1669Met",
"transcript": "ENST00000696964.1",
"protein_id": "ENSP00000513003.1",
"transcript_support_level": null,
"aa_start": 1669,
"aa_end": null,
"aa_length": 2249,
"cds_start": 5005,
"cds_end": null,
"cds_length": 6750,
"cdna_start": 5418,
"cdna_end": null,
"cdna_length": 11763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.4882G>A",
"hgvs_p": "p.Val1628Met",
"transcript": "ENST00000681521.1",
"protein_id": "ENSP00000506037.1",
"transcript_support_level": null,
"aa_start": 1628,
"aa_end": null,
"aa_length": 2208,
"cds_start": 4882,
"cds_end": null,
"cds_length": 6627,
"cdna_start": 5295,
"cdna_end": null,
"cdna_length": 11640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.Val1669Met",
"transcript": "XM_005258356.2",
"protein_id": "XP_005258413.1",
"transcript_support_level": null,
"aa_start": 1669,
"aa_end": null,
"aa_length": 2249,
"cds_start": 5005,
"cds_end": null,
"cds_length": 6750,
"cdna_start": 5418,
"cdna_end": null,
"cdna_length": 11763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.4978G>A",
"hgvs_p": "p.Val1660Met",
"transcript": "XM_011526205.3",
"protein_id": "XP_011524507.1",
"transcript_support_level": null,
"aa_start": 1660,
"aa_end": null,
"aa_length": 2240,
"cds_start": 4978,
"cds_end": null,
"cds_length": 6723,
"cdna_start": 10441,
"cdna_end": null,
"cdna_length": 16786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.4924G>A",
"hgvs_p": "p.Val1642Met",
"transcript": "XM_011526206.3",
"protein_id": "XP_011524508.1",
"transcript_support_level": null,
"aa_start": 1642,
"aa_end": null,
"aa_length": 2222,
"cds_start": 4924,
"cds_end": null,
"cds_length": 6669,
"cdna_start": 5023,
"cdna_end": null,
"cdna_length": 11368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.4924G>A",
"hgvs_p": "p.Val1642Met",
"transcript": "XM_017026012.1",
"protein_id": "XP_016881501.1",
"transcript_support_level": null,
"aa_start": 1642,
"aa_end": null,
"aa_length": 2222,
"cds_start": 4924,
"cds_end": null,
"cds_length": 6669,
"cdna_start": 8432,
"cdna_end": null,
"cdna_length": 14777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.4834G>A",
"hgvs_p": "p.Val1612Met",
"transcript": "XM_011526209.2",
"protein_id": "XP_011524511.1",
"transcript_support_level": null,
"aa_start": 1612,
"aa_end": null,
"aa_length": 2192,
"cds_start": 4834,
"cds_end": null,
"cds_length": 6579,
"cdna_start": 5162,
"cdna_end": null,
"cdna_length": 11507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.4834G>A",
"hgvs_p": "p.Val1612Met",
"transcript": "XM_011526212.2",
"protein_id": "XP_011524514.1",
"transcript_support_level": null,
"aa_start": 1612,
"aa_end": null,
"aa_length": 2192,
"cds_start": 4834,
"cds_end": null,
"cds_length": 6579,
"cdna_start": 5159,
"cdna_end": null,
"cdna_length": 11504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.4834G>A",
"hgvs_p": "p.Val1612Met",
"transcript": "XM_024451269.2",
"protein_id": "XP_024307037.1",
"transcript_support_level": null,
"aa_start": 1612,
"aa_end": null,
"aa_length": 2192,
"cds_start": 4834,
"cds_end": null,
"cds_length": 6579,
"cdna_start": 5153,
"cdna_end": null,
"cdna_length": 11498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"dbsnp": "rs143578678",
"frequency_reference_population": 0.00039032876,
"hom_count_reference_population": 5,
"allele_count_reference_population": 630,
"gnomad_exomes_af": 0.000220976,
"gnomad_genomes_af": 0.00201541,
"gnomad_exomes_ac": 323,
"gnomad_genomes_ac": 307,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.007395923137664795,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.013,
"revel_prediction": "Benign",
"alphamissense_score": 0.1255,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.611,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000269197.12",
"gene_symbol": "ASXL3",
"hgnc_id": 29357,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5002G>A",
"hgvs_p": "p.Val1668Met"
}
],
"clinvar_disease": "ASXL3-related disorder,Inborn genetic diseases,Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:3",
"phenotype_combined": "not provided|Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome|Inborn genetic diseases|ASXL3-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}