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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: 11-233067-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=233067&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 233067,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000382743.9",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.622G>A",
"hgvs_p": "p.Val208Ile",
"transcript": "NM_012239.6",
"protein_id": "NP_036371.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 399,
"cds_start": 622,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 2882,
"mane_select": "ENST00000382743.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.622G>A",
"hgvs_p": "p.Val208Ile",
"transcript": "ENST00000382743.9",
"protein_id": "ENSP00000372191.4",
"transcript_support_level": 1,
"aa_start": 208,
"aa_end": null,
"aa_length": 399,
"cds_start": 622,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 2882,
"mane_select": "NM_012239.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.622G>A",
"hgvs_p": "p.Val208Ile",
"transcript": "NM_001370310.1",
"protein_id": "NP_001357239.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 417,
"cds_start": 622,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 2936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.430G>A",
"hgvs_p": "p.Val144Ile",
"transcript": "NM_001370312.1",
"protein_id": "NP_001357241.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 353,
"cds_start": 430,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 444,
"cdna_end": null,
"cdna_length": 2744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.430G>A",
"hgvs_p": "p.Val144Ile",
"transcript": "ENST00000524564.5",
"protein_id": "ENSP00000432937.1",
"transcript_support_level": 2,
"aa_start": 144,
"aa_end": null,
"aa_length": 353,
"cds_start": 430,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 1395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.622G>A",
"hgvs_p": "p.Val208Ile",
"transcript": "NM_001370314.1",
"protein_id": "NP_001357243.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 345,
"cds_start": 622,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 2720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.622G>A",
"hgvs_p": "p.Val208Ile",
"transcript": "ENST00000532956.5",
"protein_id": "ENSP00000433077.1",
"transcript_support_level": 2,
"aa_start": 208,
"aa_end": null,
"aa_length": 345,
"cds_start": 622,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 1235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.379G>A",
"hgvs_p": "p.Val127Ile",
"transcript": "NM_001370315.1",
"protein_id": "NP_001357244.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 318,
"cds_start": 379,
"cds_end": null,
"cds_length": 957,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 2639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.379G>A",
"hgvs_p": "p.Val127Ile",
"transcript": "ENST00000525319.5",
"protein_id": "ENSP00000435464.1",
"transcript_support_level": 2,
"aa_start": 127,
"aa_end": null,
"aa_length": 318,
"cds_start": 379,
"cds_end": null,
"cds_length": 957,
"cdna_start": 405,
"cdna_end": null,
"cdna_length": 1475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Val66Ile",
"transcript": "NM_001370321.1",
"protein_id": "NP_001357250.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 275,
"cds_start": 196,
"cds_end": null,
"cds_length": 828,
"cdna_start": 657,
"cdna_end": null,
"cdna_length": 2957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Val66Ile",
"transcript": "NM_001370322.1",
"protein_id": "NP_001357251.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 275,
"cds_start": 196,
"cds_end": null,
"cds_length": 828,
"cdna_start": 560,
"cdna_end": null,
"cdna_length": 2860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Val66Ile",
"transcript": "NM_001370323.1",
"protein_id": "NP_001357252.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 275,
"cds_start": 196,
"cds_end": null,
"cds_length": 828,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 2790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Val66Ile",
"transcript": "NM_001017524.3",
"protein_id": "NP_001017524.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 257,
"cds_start": 196,
"cds_end": null,
"cds_length": 774,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 2736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Val66Ile",
"transcript": "NM_001370318.1",
"protein_id": "NP_001357247.1",
"transcript_support_level": null,
"aa_start": 66,
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"aa_length": 257,
"cds_start": 196,
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"cdna_start": 657,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Val66Ile",
"transcript": "NM_001370319.1",
"protein_id": "NP_001357248.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 257,
"cds_start": 196,
"cds_end": null,
"cds_length": 774,
"cdna_start": 584,
"cdna_end": null,
"cdna_length": 2830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Val66Ile",
"transcript": "NM_001370320.1",
"protein_id": "NP_001357249.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
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"cds_start": 196,
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"cdna_start": 582,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Val66Ile",
"transcript": "ENST00000529382.5",
"protein_id": "ENSP00000437216.1",
"transcript_support_level": 2,
"aa_start": 66,
"aa_end": null,
"aa_length": 257,
"cds_start": 196,
"cds_end": null,
"cds_length": 774,
"cdna_start": 560,
"cdna_end": null,
"cdna_length": 1225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Val66Ile",
"transcript": "NM_001370324.1",
"protein_id": "NP_001357253.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 187,
"cds_start": 196,
"cds_end": null,
"cds_length": 564,
"cdna_start": 582,
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"cdna_length": 2618,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Val66Ile",
"transcript": "NM_001370325.1",
"protein_id": "NP_001357254.1",
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"aa_start": 66,
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"aa_length": 187,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Val66Ile",
"transcript": "ENST00000528469.1",
"protein_id": "ENSP00000432857.1",
"transcript_support_level": 5,
"aa_start": 66,
"aa_end": null,
"aa_length": 92,
"cds_start": 196,
"cds_end": null,
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"cdna_start": 679,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Val66Ile",
"transcript": "XM_011519956.3",
"protein_id": "XP_011518258.1",
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"aa_start": 66,
"aa_end": null,
"aa_length": 275,
"cds_start": 196,
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"cdna_start": 2156,
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"cdna_length": 4456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Val66Ile",
"transcript": "XM_011519957.3",
"protein_id": "XP_011518259.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 275,
"cds_start": 196,
"cds_end": null,
"cds_length": 828,
"cdna_start": 1985,
"cdna_end": null,
"cdna_length": 4285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Val66Ile",
"transcript": "XM_017017431.2",
"protein_id": "XP_016872920.1",
"transcript_support_level": null,
"aa_start": 66,
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],
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"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.115,
"revel_prediction": "Benign",
"alphamissense_score": 0.0678,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.829,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BP6",
"BA1"
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"verdict": "Benign",
"transcript": "ENST00000382743.9",
"gene_symbol": "SIRT3",
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"effects": [
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"inheritance_mode": "AR",
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],
"clinvar_disease": "SIRT3-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "SIRT3-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}