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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: 1-202752979-CAA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=202752979&ref=CAA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 202752979,
"ref": "CAA",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_006618.5",
"consequences": [
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5B",
"gene_hgnc_id": 18039,
"hgvs_c": "c.1625_1626delTT",
"hgvs_p": "p.Phe542fs",
"transcript": "NM_006618.5",
"protein_id": "NP_006609.3",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 1544,
"cds_start": 1625,
"cds_end": null,
"cds_length": 4635,
"cdna_start": 1742,
"cdna_end": null,
"cdna_length": 9292,
"mane_select": "ENST00000367265.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5B",
"gene_hgnc_id": 18039,
"hgvs_c": "c.1625_1626delTT",
"hgvs_p": "p.Phe542fs",
"transcript": "ENST00000367265.9",
"protein_id": "ENSP00000356234.3",
"transcript_support_level": 1,
"aa_start": 542,
"aa_end": null,
"aa_length": 1544,
"cds_start": 1625,
"cds_end": null,
"cds_length": 4635,
"cdna_start": 1742,
"cdna_end": null,
"cdna_length": 9292,
"mane_select": "NM_006618.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5B",
"gene_hgnc_id": 18039,
"hgvs_c": "c.1733_1734delTT",
"hgvs_p": "p.Phe578fs",
"transcript": "ENST00000367264.7",
"protein_id": "ENSP00000356233.2",
"transcript_support_level": 1,
"aa_start": 578,
"aa_end": null,
"aa_length": 1580,
"cds_start": 1733,
"cds_end": null,
"cds_length": 4743,
"cdna_start": 1910,
"cdna_end": null,
"cdna_length": 6520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5B",
"gene_hgnc_id": 18039,
"hgvs_c": "c.1733_1734delTT",
"hgvs_p": "p.Phe578fs",
"transcript": "NM_001314042.2",
"protein_id": "NP_001300971.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 1580,
"cds_start": 1733,
"cds_end": null,
"cds_length": 4743,
"cdna_start": 1850,
"cdna_end": null,
"cdna_length": 9400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5B",
"gene_hgnc_id": 18039,
"hgvs_c": "c.1610_1611delTT",
"hgvs_p": "p.Phe537fs",
"transcript": "NM_001399817.1",
"protein_id": "NP_001386746.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 1539,
"cds_start": 1610,
"cds_end": null,
"cds_length": 4620,
"cdna_start": 1727,
"cdna_end": null,
"cdna_length": 9277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5B",
"gene_hgnc_id": 18039,
"hgvs_c": "c.1610_1611delTT",
"hgvs_p": "p.Phe537fs",
"transcript": "ENST00000648056.1",
"protein_id": "ENSP00000497113.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 1539,
"cds_start": 1610,
"cds_end": null,
"cds_length": 4620,
"cdna_start": 1793,
"cdna_end": null,
"cdna_length": 6390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5B",
"gene_hgnc_id": 18039,
"hgvs_c": "c.1625_1626delTT",
"hgvs_p": "p.Phe542fs",
"transcript": "ENST00000648338.1",
"protein_id": "ENSP00000497564.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 1517,
"cds_start": 1625,
"cds_end": null,
"cds_length": 4554,
"cdna_start": 1794,
"cdna_end": null,
"cdna_length": 9485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5B",
"gene_hgnc_id": 18039,
"hgvs_c": "c.1625_1626delTT",
"hgvs_p": "p.Phe542fs",
"transcript": "ENST00000648473.1",
"protein_id": "ENSP00000497743.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 1505,
"cds_start": 1625,
"cds_end": null,
"cds_length": 4518,
"cdna_start": 1802,
"cdna_end": null,
"cdna_length": 6703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5B",
"gene_hgnc_id": 18039,
"hgvs_c": "c.1502_1503delTT",
"hgvs_p": "p.Phe501fs",
"transcript": "ENST00000648469.1",
"protein_id": "ENSP00000497827.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 1503,
"cds_start": 1502,
"cds_end": null,
"cds_length": 4512,
"cdna_start": 1668,
"cdna_end": null,
"cdna_length": 5422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5B",
"gene_hgnc_id": 18039,
"hgvs_c": "c.1490_1491delTT",
"hgvs_p": "p.Phe497fs",
"transcript": "NM_001347591.2",
"protein_id": "NP_001334520.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 1499,
"cds_start": 1490,
"cds_end": null,
"cds_length": 4500,
"cdna_start": 1607,
"cdna_end": null,
"cdna_length": 9157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5B",
"gene_hgnc_id": 18039,
"hgvs_c": "c.1490_1491delTT",
"hgvs_p": "p.Phe497fs",
"transcript": "ENST00000650569.1",
"protein_id": "ENSP00000497671.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 1499,
"cds_start": 1490,
"cds_end": null,
"cds_length": 4500,
"cdna_start": 1602,
"cdna_end": null,
"cdna_length": 6202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5B",
"gene_hgnc_id": 18039,
"hgvs_c": "c.1502_1503delTT",
"hgvs_p": "p.Phe501fs",
"transcript": "ENST00000649770.1",
"protein_id": "ENSP00000497288.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 1472,
"cds_start": 1502,
"cds_end": null,
"cds_length": 4419,
"cdna_start": 1619,
"cdna_end": null,
"cdna_length": 5919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5B",
"gene_hgnc_id": 18039,
"hgvs_c": "c.1151_1152delTT",
"hgvs_p": "p.Phe384fs",
"transcript": "ENST00000235790.9",
"protein_id": "ENSP00000235790.4",
"transcript_support_level": 2,
"aa_start": 384,
"aa_end": null,
"aa_length": 1274,
"cds_start": 1151,
"cds_end": null,
"cds_length": 3825,
"cdna_start": 1794,
"cdna_end": null,
"cdna_length": 4467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5B",
"gene_hgnc_id": 18039,
"hgvs_c": "c.185_186delTT",
"hgvs_p": "p.Phe62fs",
"transcript": "ENST00000649929.1",
"protein_id": "ENSP00000497621.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 296,
"cds_start": 185,
"cds_end": null,
"cds_length": 891,
"cdna_start": 188,
"cdna_end": null,
"cdna_length": 1188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5B",
"gene_hgnc_id": 18039,
"hgvs_c": "c.1259_1260delTT",
"hgvs_p": "p.Phe420fs",
"transcript": "XM_011509090.4",
"protein_id": "XP_011507392.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 1422,
"cds_start": 1259,
"cds_end": null,
"cds_length": 4269,
"cdna_start": 1853,
"cdna_end": null,
"cdna_length": 9403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5B",
"gene_hgnc_id": 18039,
"hgvs_c": "c.1259_1260delTT",
"hgvs_p": "p.Phe420fs",
"transcript": "XM_011509091.3",
"protein_id": "XP_011507393.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 1422,
"cds_start": 1259,
"cds_end": null,
"cds_length": 4269,
"cdna_start": 1577,
"cdna_end": null,
"cdna_length": 9127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5B",
"gene_hgnc_id": 18039,
"hgvs_c": "n.1362_1363delTT",
"hgvs_p": null,
"transcript": "ENST00000647754.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5B",
"gene_hgnc_id": 18039,
"hgvs_c": "n.1511_1512delTT",
"hgvs_p": null,
"transcript": "ENST00000647757.1",
"protein_id": null,
"transcript_support_level": null,
"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": 6678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5B",
"gene_hgnc_id": 18039,
"hgvs_c": "n.1508_1509delTT",
"hgvs_p": null,
"transcript": "ENST00000649542.1",
"protein_id": null,
"transcript_support_level": null,
"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": 6149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5B",
"gene_hgnc_id": 18039,
"hgvs_c": "n.*1051_*1052delTT",
"hgvs_p": null,
"transcript": "ENST00000650417.1",
"protein_id": "ENSP00000497297.1",
"transcript_support_level": null,
"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": 5362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5B",
"gene_hgnc_id": 18039,
"hgvs_c": "n.1908_1909delTT",
"hgvs_p": null,
"transcript": "ENST00000650422.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5B",
"gene_hgnc_id": 18039,
"hgvs_c": "n.*1051_*1052delTT",
"hgvs_p": null,
"transcript": "ENST00000650417.1",
"protein_id": "ENSP00000497297.1",
"transcript_support_level": null,
"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": 5362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5B",
"gene_hgnc_id": 18039,
"hgvs_c": "n.*50_*51delTT",
"hgvs_p": null,
"transcript": "ENST00000456180.2",
"protein_id": null,
"transcript_support_level": 4,
"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": 574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KDM5B",
"gene_hgnc_id": 18039,
"dbsnp": "rs755833290",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 9.321,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_006618.5",
"gene_symbol": "KDM5B",
"hgnc_id": 18039,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "Unknown,AR,AD",
"hgvs_c": "c.1625_1626delTT",
"hgvs_p": "p.Phe542fs"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}