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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: 16-29799998-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=29799998&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 29799998,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000160827.9",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "M",
"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": "KIF22",
"gene_hgnc_id": 6391,
"hgvs_c": "c.1230C>G",
"hgvs_p": "p.Ile410Met",
"transcript": "NM_007317.3",
"protein_id": "NP_015556.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 665,
"cds_start": 1230,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 1239,
"cdna_end": null,
"cdna_length": 2081,
"mane_select": "ENST00000160827.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": true,
"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": "KIF22",
"gene_hgnc_id": 6391,
"hgvs_c": "c.1230C>G",
"hgvs_p": "p.Ile410Met",
"transcript": "ENST00000160827.9",
"protein_id": "ENSP00000160827.5",
"transcript_support_level": 1,
"aa_start": 410,
"aa_end": null,
"aa_length": 665,
"cds_start": 1230,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 1239,
"cdna_end": null,
"cdna_length": 2081,
"mane_select": "NM_007317.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"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": "KIF22",
"gene_hgnc_id": 6391,
"hgvs_c": "c.1230C>G",
"hgvs_p": "p.Ile410Met",
"transcript": "ENST00000569382.3",
"protein_id": "ENSP00000456165.3",
"transcript_support_level": 5,
"aa_start": 410,
"aa_end": null,
"aa_length": 679,
"cds_start": 1230,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 1249,
"cdna_end": null,
"cdna_length": 2102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"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": "KIF22",
"gene_hgnc_id": 6391,
"hgvs_c": "c.1182C>G",
"hgvs_p": "p.Ile394Met",
"transcript": "ENST00000689660.1",
"protein_id": "ENSP00000509285.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 649,
"cds_start": 1182,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 1201,
"cdna_end": null,
"cdna_length": 2044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF22",
"gene_hgnc_id": 6391,
"hgvs_c": "c.1230C>G",
"hgvs_p": "p.Ile410Met",
"transcript": "ENST00000689107.1",
"protein_id": "ENSP00000509175.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 645,
"cds_start": 1230,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 1233,
"cdna_end": null,
"cdna_length": 2015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF22",
"gene_hgnc_id": 6391,
"hgvs_c": "c.1026C>G",
"hgvs_p": "p.Ile342Met",
"transcript": "NM_001256269.2",
"protein_id": "NP_001243198.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 597,
"cds_start": 1026,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1288,
"cdna_end": null,
"cdna_length": 2130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"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": "KIF22",
"gene_hgnc_id": 6391,
"hgvs_c": "c.1026C>G",
"hgvs_p": "p.Ile342Met",
"transcript": "NM_001256270.1",
"protein_id": "NP_001243199.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 597,
"cds_start": 1026,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1414,
"cdna_end": null,
"cdna_length": 2257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"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": "KIF22",
"gene_hgnc_id": 6391,
"hgvs_c": "c.1026C>G",
"hgvs_p": "p.Ile342Met",
"transcript": "ENST00000400751.9",
"protein_id": "ENSP00000383562.5",
"transcript_support_level": 2,
"aa_start": 342,
"aa_end": null,
"aa_length": 597,
"cds_start": 1026,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1651,
"cdna_end": null,
"cdna_length": 2493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"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": "KIF22",
"gene_hgnc_id": 6391,
"hgvs_c": "c.1026C>G",
"hgvs_p": "p.Ile342Met",
"transcript": "ENST00000561482.6",
"protein_id": "ENSP00000454957.1",
"transcript_support_level": 2,
"aa_start": 342,
"aa_end": null,
"aa_length": 597,
"cds_start": 1026,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1414,
"cdna_end": null,
"cdna_length": 2256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF22",
"gene_hgnc_id": 6391,
"hgvs_c": "c.1026C>G",
"hgvs_p": "p.Ile342Met",
"transcript": "ENST00000690258.1",
"protein_id": "ENSP00000509977.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 597,
"cds_start": 1026,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 2155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF22",
"gene_hgnc_id": 6391,
"hgvs_c": "c.963C>G",
"hgvs_p": "p.Ile321Met",
"transcript": "ENST00000687634.1",
"protein_id": "ENSP00000509819.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 353,
"cds_start": 963,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 964,
"cdna_end": null,
"cdna_length": 1648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF22",
"gene_hgnc_id": 6391,
"hgvs_c": "c.1230C>G",
"hgvs_p": "p.Ile410Met",
"transcript": "XM_047434094.1",
"protein_id": "XP_047290050.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 542,
"cds_start": 1230,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1239,
"cdna_end": null,
"cdna_length": 1742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF22",
"gene_hgnc_id": 6391,
"hgvs_c": "c.1230C>G",
"hgvs_p": "p.Ile410Met",
"transcript": "XM_047434095.1",
"protein_id": "XP_047290051.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 442,
"cds_start": 1230,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 1239,
"cdna_end": null,
"cdna_length": 1918,
"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": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF22",
"gene_hgnc_id": 6391,
"hgvs_c": "n.1615C>G",
"hgvs_p": null,
"transcript": "ENST00000563263.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 3822,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF22",
"gene_hgnc_id": 6391,
"hgvs_c": "n.1619C>G",
"hgvs_p": null,
"transcript": "ENST00000563666.2",
"protein_id": null,
"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": 3870,
"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": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF22",
"gene_hgnc_id": 6391,
"hgvs_c": "n.1230C>G",
"hgvs_p": null,
"transcript": "ENST00000685401.1",
"protein_id": "ENSP00000509077.1",
"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": 2237,
"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": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF22",
"gene_hgnc_id": 6391,
"hgvs_c": "n.1230C>G",
"hgvs_p": null,
"transcript": "ENST00000685526.1",
"protein_id": "ENSP00000510465.1",
"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": 2877,
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF22",
"gene_hgnc_id": 6391,
"hgvs_c": "n.963C>G",
"hgvs_p": null,
"transcript": "ENST00000685961.1",
"protein_id": "ENSP00000509367.1",
"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": 1314,
"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": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF22",
"gene_hgnc_id": 6391,
"hgvs_c": "n.1242C>G",
"hgvs_p": null,
"transcript": "ENST00000686384.1",
"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": 4673,
"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": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF22",
"gene_hgnc_id": 6391,
"hgvs_c": "n.1240C>G",
"hgvs_p": null,
"transcript": "ENST00000688492.1",
"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": 2805,
"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": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF22",
"gene_hgnc_id": 6391,
"hgvs_c": "n.1230C>G",
"hgvs_p": null,
"transcript": "ENST00000689089.1",
"protein_id": "ENSP00000509109.1",
"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": 2125,
"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": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF22",
"gene_hgnc_id": 6391,
"hgvs_c": "n.1259C>G",
"hgvs_p": null,
"transcript": "ENST00000689743.1",
"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": 2938,
"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": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF22",
"gene_hgnc_id": 6391,
"hgvs_c": "n.1230C>G",
"hgvs_p": null,
"transcript": "ENST00000690419.1",
"protein_id": "ENSP00000509446.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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{
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},
{
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],
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}
],
"gene_symbol": "KIF22",
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"dbsnp": "rs235648",
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"gnomad_exomes_homalt": 2,
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"computational_score_selected": 0.031077861785888672,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.062,
"revel_prediction": "Benign",
"alphamissense_score": 0.0507,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.074,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -14,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000160827.9",
"gene_symbol": "KIF22",
"hgnc_id": 6391,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}