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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: 11-65714734-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=65714734&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 65714734,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_182710.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT5",
"gene_hgnc_id": 5275,
"hgvs_c": "c.930G>C",
"hgvs_p": "p.Gln310His",
"transcript": "NM_182710.3",
"protein_id": "NP_874369.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 546,
"cds_start": 930,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 946,
"cdna_end": null,
"cdna_length": 2080,
"mane_select": "ENST00000341318.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182710.3"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT5",
"gene_hgnc_id": 5275,
"hgvs_c": "c.930G>C",
"hgvs_p": "p.Gln310His",
"transcript": "ENST00000341318.9",
"protein_id": "ENSP00000340330.4",
"transcript_support_level": 1,
"aa_start": 310,
"aa_end": null,
"aa_length": 546,
"cds_start": 930,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 946,
"cdna_end": null,
"cdna_length": 2080,
"mane_select": "NM_182710.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341318.9"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT5",
"gene_hgnc_id": 5275,
"hgvs_c": "c.831G>C",
"hgvs_p": "p.Gln277His",
"transcript": "ENST00000377046.7",
"protein_id": "ENSP00000366245.3",
"transcript_support_level": 1,
"aa_start": 277,
"aa_end": null,
"aa_length": 513,
"cds_start": 831,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1103,
"cdna_end": null,
"cdna_length": 2237,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377046.7"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT5",
"gene_hgnc_id": 5275,
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Gln258His",
"transcript": "ENST00000530446.5",
"protein_id": "ENSP00000434765.1",
"transcript_support_level": 1,
"aa_start": 258,
"aa_end": null,
"aa_length": 494,
"cds_start": 774,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 803,
"cdna_end": null,
"cdna_length": 1697,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530446.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT5",
"gene_hgnc_id": 5275,
"hgvs_c": "c.675G>C",
"hgvs_p": "p.Gln225His",
"transcript": "ENST00000352980.8",
"protein_id": "ENSP00000344955.4",
"transcript_support_level": 1,
"aa_start": 225,
"aa_end": null,
"aa_length": 461,
"cds_start": 675,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 925,
"cdna_end": null,
"cdna_length": 2059,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352980.8"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT5",
"gene_hgnc_id": 5275,
"hgvs_c": "c.198G>C",
"hgvs_p": "p.Gln66His",
"transcript": "ENST00000534650.5",
"protein_id": "ENSP00000431819.1",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 302,
"cds_start": 198,
"cds_end": null,
"cds_length": 909,
"cdna_start": 742,
"cdna_end": null,
"cdna_length": 1875,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534650.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT5",
"gene_hgnc_id": 5275,
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Gln258His",
"transcript": "ENST00000948346.1",
"protein_id": "ENSP00000618405.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 527,
"cds_start": 774,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 790,
"cdna_end": null,
"cdna_length": 2023,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948346.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT5",
"gene_hgnc_id": 5275,
"hgvs_c": "c.831G>C",
"hgvs_p": "p.Gln277His",
"transcript": "NM_006388.4",
"protein_id": "NP_006379.2",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 513,
"cds_start": 831,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 1981,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006388.4"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT5",
"gene_hgnc_id": 5275,
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Gln258His",
"transcript": "NM_001206833.2",
"protein_id": "NP_001193762.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 494,
"cds_start": 774,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 790,
"cdna_end": null,
"cdna_length": 1924,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206833.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT5",
"gene_hgnc_id": 5275,
"hgvs_c": "c.765G>C",
"hgvs_p": "p.Gln255His",
"transcript": "ENST00000948347.1",
"protein_id": "ENSP00000618406.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 491,
"cds_start": 765,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 1914,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948347.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT5",
"gene_hgnc_id": 5275,
"hgvs_c": "c.675G>C",
"hgvs_p": "p.Gln225His",
"transcript": "NM_182709.3",
"protein_id": "NP_874368.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 461,
"cds_start": 675,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 691,
"cdna_end": null,
"cdna_length": 1825,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182709.3"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT5",
"gene_hgnc_id": 5275,
"hgvs_c": "c.858G>C",
"hgvs_p": "p.Gln286His",
"transcript": "XM_006718421.4",
"protein_id": "XP_006718484.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 522,
"cds_start": 858,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 874,
"cdna_end": null,
"cdna_length": 2008,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006718421.4"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT5",
"gene_hgnc_id": 5275,
"hgvs_c": "c.858G>C",
"hgvs_p": "p.Gln286His",
"transcript": "XM_047426252.1",
"protein_id": "XP_047282208.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 400,
"cds_start": 858,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 874,
"cdna_end": null,
"cdna_length": 1301,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426252.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT5",
"gene_hgnc_id": 5275,
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Gln258His",
"transcript": "XM_047426253.1",
"protein_id": "XP_047282209.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 372,
"cds_start": 774,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1024,
"cdna_end": null,
"cdna_length": 1451,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426253.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT5",
"gene_hgnc_id": 5275,
"hgvs_c": "n.618G>C",
"hgvs_p": null,
"transcript": "ENST00000527544.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 745,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000527544.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT5",
"gene_hgnc_id": 5275,
"hgvs_c": "n.460G>C",
"hgvs_p": null,
"transcript": "ENST00000534293.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 559,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000534293.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2C",
"gene_hgnc_id": 24116,
"hgvs_c": "n.1078C>G",
"hgvs_p": null,
"transcript": "ENST00000644198.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1807,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000644198.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT5",
"gene_hgnc_id": 5275,
"hgvs_c": "c.*5G>C",
"hgvs_p": null,
"transcript": "ENST00000531880.1",
"protein_id": "ENSP00000436012.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 268,
"cds_start": null,
"cds_end": null,
"cds_length": 808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 845,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531880.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT5",
"gene_hgnc_id": 5275,
"hgvs_c": "c.*89G>C",
"hgvs_p": null,
"transcript": "ENST00000528198.5",
"protein_id": "ENSP00000436000.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 188,
"cds_start": null,
"cds_end": null,
"cds_length": 568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 609,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528198.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT5",
"gene_hgnc_id": 5275,
"hgvs_c": "c.*61G>C",
"hgvs_p": null,
"transcript": "ENST00000534681.1",
"protein_id": "ENSP00000434993.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 44,
"cds_start": null,
"cds_end": null,
"cds_length": 137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 583,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534681.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT5",
"gene_hgnc_id": 5275,
"hgvs_c": "c.*150G>C",
"hgvs_p": null,
"transcript": "ENST00000534104.5",
"protein_id": "ENSP00000435939.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 15,
"cds_start": null,
"cds_end": null,
"cds_length": 48,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 576,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534104.5"
}
],
"gene_symbol": "KAT5",
"gene_hgnc_id": 5275,
"dbsnp": "rs1009501704",
"frequency_reference_population": 0.000006815087,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000684045,
"gnomad_genomes_af": 0.00000657142,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.30492332577705383,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.145,
"revel_prediction": "Benign",
"alphamissense_score": 0.4239,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.473,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"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_182710.3",
"gene_symbol": "KAT5",
"hgnc_id": 5275,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.930G>C",
"hgvs_p": "p.Gln310His"
},
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "ENST00000644198.1",
"gene_symbol": "RNASEH2C",
"hgnc_id": 24116,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "n.1078C>G",
"hgvs_p": null
}
],
"clinvar_disease": " and brain abnormalities, sleep disturbance,Neurodevelopmental disorder with dysmorphic facies,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "not specified|Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}