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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: 10-69011001-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=69011001&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 69011001,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000361983.7",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "KIFBP",
"gene_hgnc_id": 23419,
"hgvs_c": "c.976C>G",
"hgvs_p": "p.Gln326Glu",
"transcript": "NM_015634.4",
"protein_id": "NP_056449.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 621,
"cds_start": 976,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 1006,
"cdna_end": null,
"cdna_length": 2462,
"mane_select": "ENST00000361983.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": true,
"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": "KIFBP",
"gene_hgnc_id": 23419,
"hgvs_c": "c.976C>G",
"hgvs_p": "p.Gln326Glu",
"transcript": "ENST00000361983.7",
"protein_id": "ENSP00000354848.4",
"transcript_support_level": 1,
"aa_start": 326,
"aa_end": null,
"aa_length": 621,
"cds_start": 976,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 1006,
"cdna_end": null,
"cdna_length": 2462,
"mane_select": "NM_015634.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFBP",
"gene_hgnc_id": 23419,
"hgvs_c": "c.1051C>G",
"hgvs_p": "p.Gln351Glu",
"transcript": "ENST00000638119.2",
"protein_id": "ENSP00000490026.1",
"transcript_support_level": 5,
"aa_start": 351,
"aa_end": null,
"aa_length": 646,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 1081,
"cdna_end": null,
"cdna_length": 2533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "KIFBP",
"gene_hgnc_id": 23419,
"hgvs_c": "c.925C>G",
"hgvs_p": "p.Gln309Glu",
"transcript": "ENST00000674660.1",
"protein_id": "ENSP00000502562.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 604,
"cds_start": 925,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 955,
"cdna_end": null,
"cdna_length": 2407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFBP",
"gene_hgnc_id": 23419,
"hgvs_c": "c.877C>G",
"hgvs_p": "p.Gln293Glu",
"transcript": "ENST00000675576.1",
"protein_id": "ENSP00000502750.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 588,
"cds_start": 877,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 907,
"cdna_end": null,
"cdna_length": 2359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "KIFBP",
"gene_hgnc_id": 23419,
"hgvs_c": "c.460C>G",
"hgvs_p": "p.Gln154Glu",
"transcript": "ENST00000674897.1",
"protein_id": "ENSP00000502225.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 449,
"cds_start": 460,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 2151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFBP",
"gene_hgnc_id": 23419,
"hgvs_c": "c.178C>G",
"hgvs_p": "p.Gln60Glu",
"transcript": "XM_017016067.2",
"protein_id": "XP_016871556.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 355,
"cds_start": 178,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 1041,
"cdna_end": null,
"cdna_length": 2497,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFBP",
"gene_hgnc_id": 23419,
"hgvs_c": "n.284C>G",
"hgvs_p": null,
"transcript": "ENST00000481912.2",
"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": 397,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFBP",
"gene_hgnc_id": 23419,
"hgvs_c": "n.607C>G",
"hgvs_p": null,
"transcript": "ENST00000627949.4",
"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": 2059,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFBP",
"gene_hgnc_id": 23419,
"hgvs_c": "n.*297C>G",
"hgvs_p": null,
"transcript": "ENST00000635779.2",
"protein_id": "ENSP00000489663.1",
"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": 2583,
"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": "KIFBP",
"gene_hgnc_id": 23419,
"hgvs_c": "n.976C>G",
"hgvs_p": null,
"transcript": "ENST00000636200.2",
"protein_id": "ENSP00000490113.2",
"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": 2848,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFBP",
"gene_hgnc_id": 23419,
"hgvs_c": "n.*549C>G",
"hgvs_p": null,
"transcript": "ENST00000637101.2",
"protein_id": "ENSP00000490704.1",
"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": 2601,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFBP",
"gene_hgnc_id": 23419,
"hgvs_c": "n.*545C>G",
"hgvs_p": null,
"transcript": "ENST00000637104.2",
"protein_id": "ENSP00000490019.2",
"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": 2438,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFBP",
"gene_hgnc_id": 23419,
"hgvs_c": "n.*617C>G",
"hgvs_p": null,
"transcript": "ENST00000637323.2",
"protein_id": "ENSP00000489659.2",
"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": 2558,
"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": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFBP",
"gene_hgnc_id": 23419,
"hgvs_c": "n.*251C>G",
"hgvs_p": null,
"transcript": "ENST00000637420.2",
"protein_id": "ENSP00000490404.2",
"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": 2625,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFBP",
"gene_hgnc_id": 23419,
"hgvs_c": "n.*251C>G",
"hgvs_p": null,
"transcript": "ENST00000637738.2",
"protein_id": "ENSP00000490742.2",
"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": 2546,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFBP",
"gene_hgnc_id": 23419,
"hgvs_c": "n.2842C>G",
"hgvs_p": null,
"transcript": "ENST00000674688.1",
"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": 4294,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFBP",
"gene_hgnc_id": 23419,
"hgvs_c": "n.*489C>G",
"hgvs_p": null,
"transcript": "ENST00000676080.1",
"protein_id": "ENSP00000502706.1",
"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": 2412,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFBP",
"gene_hgnc_id": 23419,
"hgvs_c": "n.*297C>G",
"hgvs_p": null,
"transcript": "ENST00000635779.2",
"protein_id": "ENSP00000489663.1",
"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": 2583,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFBP",
"gene_hgnc_id": 23419,
"hgvs_c": "n.*549C>G",
"hgvs_p": null,
"transcript": "ENST00000637101.2",
"protein_id": "ENSP00000490704.1",
"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": 2601,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFBP",
"gene_hgnc_id": 23419,
"hgvs_c": "n.*545C>G",
"hgvs_p": null,
"transcript": "ENST00000637104.2",
"protein_id": "ENSP00000490019.2",
"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": 2438,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFBP",
"gene_hgnc_id": 23419,
"hgvs_c": "n.*617C>G",
"hgvs_p": null,
"transcript": "ENST00000637323.2",
"protein_id": "ENSP00000489659.2",
"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": 2558,
"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": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFBP",
"gene_hgnc_id": 23419,
"hgvs_c": "n.*251C>G",
"hgvs_p": null,
"transcript": "ENST00000637420.2",
"protein_id": "ENSP00000490404.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.61,
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{
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"verdict": "Uncertain_significance",
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"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}