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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: 18-33738858-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=33738858&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 33738858,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000269197.12",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "c.1454A>G",
"hgvs_p": "p.Asn485Ser",
"transcript": "NM_030632.3",
"protein_id": "NP_085135.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 2248,
"cds_start": 1454,
"cds_end": null,
"cds_length": 6747,
"cdna_start": 1867,
"cdna_end": null,
"cdna_length": 11760,
"mane_select": "ENST00000269197.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "c.1454A>G",
"hgvs_p": "p.Asn485Ser",
"transcript": "ENST00000269197.12",
"protein_id": "ENSP00000269197.4",
"transcript_support_level": 5,
"aa_start": 485,
"aa_end": null,
"aa_length": 2248,
"cds_start": 1454,
"cds_end": null,
"cds_length": 6747,
"cdna_start": 1867,
"cdna_end": null,
"cdna_length": 11760,
"mane_select": "NM_030632.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "c.1457A>G",
"hgvs_p": "p.Asn486Ser",
"transcript": "ENST00000696964.1",
"protein_id": "ENSP00000513003.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 2249,
"cds_start": 1457,
"cds_end": null,
"cds_length": 6750,
"cdna_start": 1870,
"cdna_end": null,
"cdna_length": 11763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "c.1334A>G",
"hgvs_p": "p.Asn445Ser",
"transcript": "ENST00000681521.1",
"protein_id": "ENSP00000506037.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 2208,
"cds_start": 1334,
"cds_end": null,
"cds_length": 6627,
"cdna_start": 1747,
"cdna_end": null,
"cdna_length": 11640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "c.1286A>G",
"hgvs_p": "p.Asn429Ser",
"transcript": "ENST00000642541.1",
"protein_id": "ENSP00000493665.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 1190,
"cds_start": 1286,
"cds_end": null,
"cds_length": 3573,
"cdna_start": 1929,
"cdna_end": null,
"cdna_length": 4216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "c.1457A>G",
"hgvs_p": "p.Asn486Ser",
"transcript": "XM_005258356.2",
"protein_id": "XP_005258413.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 2249,
"cds_start": 1457,
"cds_end": null,
"cds_length": 6750,
"cdna_start": 1870,
"cdna_end": null,
"cdna_length": 11763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "c.1430A>G",
"hgvs_p": "p.Asn477Ser",
"transcript": "XM_011526205.3",
"protein_id": "XP_011524507.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 2240,
"cds_start": 1430,
"cds_end": null,
"cds_length": 6723,
"cdna_start": 6893,
"cdna_end": null,
"cdna_length": 16786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "c.1376A>G",
"hgvs_p": "p.Asn459Ser",
"transcript": "XM_011526206.3",
"protein_id": "XP_011524508.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 2222,
"cds_start": 1376,
"cds_end": null,
"cds_length": 6669,
"cdna_start": 1475,
"cdna_end": null,
"cdna_length": 11368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "c.1376A>G",
"hgvs_p": "p.Asn459Ser",
"transcript": "XM_017026012.1",
"protein_id": "XP_016881501.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 2222,
"cds_start": 1376,
"cds_end": null,
"cds_length": 6669,
"cdna_start": 4884,
"cdna_end": null,
"cdna_length": 14777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "c.1286A>G",
"hgvs_p": "p.Asn429Ser",
"transcript": "XM_011526209.2",
"protein_id": "XP_011524511.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 2192,
"cds_start": 1286,
"cds_end": null,
"cds_length": 6579,
"cdna_start": 1614,
"cdna_end": null,
"cdna_length": 11507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "c.1286A>G",
"hgvs_p": "p.Asn429Ser",
"transcript": "XM_011526212.2",
"protein_id": "XP_011524514.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 2192,
"cds_start": 1286,
"cds_end": null,
"cds_length": 6579,
"cdna_start": 1611,
"cdna_end": null,
"cdna_length": 11504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "c.1286A>G",
"hgvs_p": "p.Asn429Ser",
"transcript": "XM_024451269.2",
"protein_id": "XP_024307037.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 2192,
"cds_start": 1286,
"cds_end": null,
"cds_length": 6579,
"cdna_start": 1605,
"cdna_end": null,
"cdna_length": 11498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "n.*578A>G",
"hgvs_p": null,
"transcript": "ENST00000592288.6",
"protein_id": "ENSP00000465053.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "n.*1113A>G",
"hgvs_p": null,
"transcript": "ENST00000592541.6",
"protein_id": "ENSP00000466655.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "n.*1480A>G",
"hgvs_p": null,
"transcript": "ENST00000593195.6",
"protein_id": "ENSP00000466073.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "n.*578A>G",
"hgvs_p": null,
"transcript": "ENST00000592288.6",
"protein_id": "ENSP00000465053.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "n.*1113A>G",
"hgvs_p": null,
"transcript": "ENST00000592541.6",
"protein_id": "ENSP00000466655.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "n.*1480A>G",
"hgvs_p": null,
"transcript": "ENST00000593195.6",
"protein_id": "ENSP00000466073.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"dbsnp": "rs151027205",
"frequency_reference_population": 0.00022246983,
"hom_count_reference_population": 0,
"allele_count_reference_population": 359,
"gnomad_exomes_af": 0.000197074,
"gnomad_genomes_af": 0.000466124,
"gnomad_exomes_ac": 288,
"gnomad_genomes_ac": 71,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0081559419631958,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.021,
"revel_prediction": "Benign",
"alphamissense_score": 0.0642,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.105,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000269197.12",
"gene_symbol": "ASXL3",
"hgnc_id": 29357,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1454A>G",
"hgvs_p": "p.Asn485Ser"
}
],
"clinvar_disease": "Inborn genetic diseases,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1 B:1",
"phenotype_combined": "not specified|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}