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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: 13-20799253-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=20799253&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 20799253,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_022459.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO4",
"gene_hgnc_id": 17796,
"hgvs_c": "c.2234G>A",
"hgvs_p": "p.Ser745Asn",
"transcript": "NM_022459.5",
"protein_id": "NP_071904.4",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 1151,
"cds_start": 2234,
"cds_end": null,
"cds_length": 3456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000255305.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022459.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO4",
"gene_hgnc_id": 17796,
"hgvs_c": "c.2234G>A",
"hgvs_p": "p.Ser745Asn",
"transcript": "ENST00000255305.11",
"protein_id": "ENSP00000255305.6",
"transcript_support_level": 1,
"aa_start": 745,
"aa_end": null,
"aa_length": 1151,
"cds_start": 2234,
"cds_end": null,
"cds_length": 3456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022459.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000255305.11"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO4",
"gene_hgnc_id": 17796,
"hgvs_c": "c.2234G>A",
"hgvs_p": "p.Ser745Asn",
"transcript": "ENST00000909777.1",
"protein_id": "ENSP00000579836.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 1149,
"cds_start": 2234,
"cds_end": null,
"cds_length": 3450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909777.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO4",
"gene_hgnc_id": 17796,
"hgvs_c": "c.2234G>A",
"hgvs_p": "p.Ser745Asn",
"transcript": "ENST00000953408.1",
"protein_id": "ENSP00000623467.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 1120,
"cds_start": 2234,
"cds_end": null,
"cds_length": 3363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953408.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO4",
"gene_hgnc_id": 17796,
"hgvs_c": "c.2234G>A",
"hgvs_p": "p.Ser745Asn",
"transcript": "ENST00000936073.1",
"protein_id": "ENSP00000606132.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 1068,
"cds_start": 2234,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936073.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO4",
"gene_hgnc_id": 17796,
"hgvs_c": "c.2234G>A",
"hgvs_p": "p.Ser745Asn",
"transcript": "NM_001372061.1",
"protein_id": "NP_001358990.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 1037,
"cds_start": 2234,
"cds_end": null,
"cds_length": 3114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001372061.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO4",
"gene_hgnc_id": 17796,
"hgvs_c": "c.2234G>A",
"hgvs_p": "p.Ser745Asn",
"transcript": "ENST00000909776.1",
"protein_id": "ENSP00000579835.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 1037,
"cds_start": 2234,
"cds_end": null,
"cds_length": 3114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909776.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO4",
"gene_hgnc_id": 17796,
"hgvs_c": "c.1847G>A",
"hgvs_p": "p.Ser616Asn",
"transcript": "ENST00000936072.1",
"protein_id": "ENSP00000606131.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 1022,
"cds_start": 1847,
"cds_end": null,
"cds_length": 3069,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936072.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO4",
"gene_hgnc_id": 17796,
"hgvs_c": "c.2153G>A",
"hgvs_p": "p.Ser718Asn",
"transcript": "XM_047430537.1",
"protein_id": "XP_047286493.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 1124,
"cds_start": 2153,
"cds_end": null,
"cds_length": 3375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430537.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO4",
"gene_hgnc_id": 17796,
"hgvs_c": "c.2012G>A",
"hgvs_p": "p.Ser671Asn",
"transcript": "XM_024449394.2",
"protein_id": "XP_024305162.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 1077,
"cds_start": 2012,
"cds_end": null,
"cds_length": 3234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449394.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO4",
"gene_hgnc_id": 17796,
"hgvs_c": "c.1709G>A",
"hgvs_p": "p.Ser570Asn",
"transcript": "XM_017020704.3",
"protein_id": "XP_016876193.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 976,
"cds_start": 1709,
"cds_end": null,
"cds_length": 2931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020704.3"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO4",
"gene_hgnc_id": 17796,
"hgvs_c": "c.1697G>A",
"hgvs_p": "p.Ser566Asn",
"transcript": "XM_011535200.3",
"protein_id": "XP_011533502.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 972,
"cds_start": 1697,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535200.3"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO4",
"gene_hgnc_id": 17796,
"hgvs_c": "c.1697G>A",
"hgvs_p": "p.Ser566Asn",
"transcript": "XM_017020705.2",
"protein_id": "XP_016876194.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 972,
"cds_start": 1697,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020705.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO4",
"gene_hgnc_id": 17796,
"hgvs_c": "c.1697G>A",
"hgvs_p": "p.Ser566Asn",
"transcript": "XM_047430538.1",
"protein_id": "XP_047286494.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 972,
"cds_start": 1697,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430538.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO4",
"gene_hgnc_id": 17796,
"hgvs_c": "c.1697G>A",
"hgvs_p": "p.Ser566Asn",
"transcript": "XM_047430539.1",
"protein_id": "XP_047286495.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 972,
"cds_start": 1697,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430539.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO4",
"gene_hgnc_id": 17796,
"hgvs_c": "c.1697G>A",
"hgvs_p": "p.Ser566Asn",
"transcript": "XM_047430540.1",
"protein_id": "XP_047286496.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 972,
"cds_start": 1697,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430540.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO4",
"gene_hgnc_id": 17796,
"hgvs_c": "c.1406G>A",
"hgvs_p": "p.Ser469Asn",
"transcript": "XM_017020706.3",
"protein_id": "XP_016876195.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 875,
"cds_start": 1406,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020706.3"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO4",
"gene_hgnc_id": 17796,
"hgvs_c": "c.1364G>A",
"hgvs_p": "p.Ser455Asn",
"transcript": "XM_005266504.5",
"protein_id": "XP_005266561.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 861,
"cds_start": 1364,
"cds_end": null,
"cds_length": 2586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005266504.5"
}
],
"gene_symbol": "XPO4",
"gene_hgnc_id": 17796,
"dbsnp": "rs752423460",
"frequency_reference_population": 0.000023544895,
"hom_count_reference_population": 0,
"allele_count_reference_population": 38,
"gnomad_exomes_af": 0.0000239432,
"gnomad_genomes_af": 0.0000197182,
"gnomad_exomes_ac": 35,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.33179527521133423,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07999999821186066,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.079,
"revel_prediction": "Benign",
"alphamissense_score": 0.1741,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.415,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.08,
"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,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_022459.5",
"gene_symbol": "XPO4",
"hgnc_id": 17796,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2234G>A",
"hgvs_p": "p.Ser745Asn"
}
],
"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
}