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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: 6-109762167-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=109762167&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 109762167,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014845.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.1348C>A",
"hgvs_p": "p.Arg450Ser",
"transcript": "NM_014845.6",
"protein_id": "NP_055660.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 907,
"cds_start": 1348,
"cds_end": null,
"cds_length": 2724,
"cdna_start": 1488,
"cdna_end": null,
"cdna_length": 3025,
"mane_select": "ENST00000230124.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014845.6"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.1348C>A",
"hgvs_p": "p.Arg450Ser",
"transcript": "ENST00000230124.8",
"protein_id": "ENSP00000230124.4",
"transcript_support_level": 1,
"aa_start": 450,
"aa_end": null,
"aa_length": 907,
"cds_start": 1348,
"cds_end": null,
"cds_length": 2724,
"cdna_start": 1488,
"cdna_end": null,
"cdna_length": 3025,
"mane_select": "NM_014845.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000230124.8"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.1366C>A",
"hgvs_p": "p.Arg456Ser",
"transcript": "ENST00000674884.1",
"protein_id": "ENSP00000502668.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 913,
"cds_start": 1366,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 1487,
"cdna_end": null,
"cdna_length": 3003,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674884.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.1342C>A",
"hgvs_p": "p.Arg448Ser",
"transcript": "ENST00000674744.1",
"protein_id": "ENSP00000501661.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 905,
"cds_start": 1342,
"cds_end": null,
"cds_length": 2718,
"cdna_start": 1497,
"cdna_end": null,
"cdna_length": 2999,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674744.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.1348C>A",
"hgvs_p": "p.Arg450Ser",
"transcript": "ENST00000675726.1",
"protein_id": "ENSP00000502452.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 878,
"cds_start": 1348,
"cds_end": null,
"cds_length": 2637,
"cdna_start": 1535,
"cdna_end": null,
"cdna_length": 2966,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675726.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.1348C>A",
"hgvs_p": "p.Arg450Ser",
"transcript": "ENST00000675772.1",
"protein_id": "ENSP00000501678.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 864,
"cds_start": 1348,
"cds_end": null,
"cds_length": 2595,
"cdna_start": 1488,
"cdna_end": null,
"cdna_length": 2963,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675772.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.1219C>A",
"hgvs_p": "p.Arg407Ser",
"transcript": "ENST00000676442.1",
"protein_id": "ENSP00000502595.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 864,
"cds_start": 1219,
"cds_end": null,
"cds_length": 2595,
"cdna_start": 1390,
"cdna_end": null,
"cdna_length": 2915,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676442.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.1348C>A",
"hgvs_p": "p.Arg450Ser",
"transcript": "ENST00000675284.1",
"protein_id": "ENSP00000502758.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 849,
"cds_start": 1348,
"cds_end": null,
"cds_length": 2550,
"cdna_start": 1488,
"cdna_end": null,
"cdna_length": 3137,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675284.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.1348C>A",
"hgvs_p": "p.Arg450Ser",
"transcript": "ENST00000675096.1",
"protein_id": "ENSP00000502116.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 838,
"cds_start": 1348,
"cds_end": null,
"cds_length": 2517,
"cdna_start": 1472,
"cdna_end": null,
"cdna_length": 2715,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675096.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.1219C>A",
"hgvs_p": "p.Arg407Ser",
"transcript": "ENST00000922531.1",
"protein_id": "ENSP00000592590.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 835,
"cds_start": 1219,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 1369,
"cdna_end": null,
"cdna_length": 2822,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922531.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.1117C>A",
"hgvs_p": "p.Arg373Ser",
"transcript": "ENST00000675523.1",
"protein_id": "ENSP00000502384.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 830,
"cds_start": 1117,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 1496,
"cdna_end": null,
"cdna_length": 3033,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675523.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.1348C>A",
"hgvs_p": "p.Arg450Ser",
"transcript": "ENST00000675714.1",
"protein_id": "ENSP00000502561.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 816,
"cds_start": 1348,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 1496,
"cdna_end": null,
"cdna_length": 2725,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675714.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.1117C>A",
"hgvs_p": "p.Arg373Ser",
"transcript": "ENST00000674933.1",
"protein_id": "ENSP00000502376.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 801,
"cds_start": 1117,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 1517,
"cdna_end": null,
"cdna_length": 2912,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674933.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.1003C>A",
"hgvs_p": "p.Arg335Ser",
"transcript": "ENST00000674641.1",
"protein_id": "ENSP00000501609.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 792,
"cds_start": 1003,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 1265,
"cdna_end": null,
"cdna_length": 2786,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674641.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.955C>A",
"hgvs_p": "p.Arg319Ser",
"transcript": "ENST00000675831.1",
"protein_id": "ENSP00000502382.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 776,
"cds_start": 955,
"cds_end": null,
"cds_length": 2331,
"cdna_start": 1078,
"cdna_end": null,
"cdna_length": 2501,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675831.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.1348C>A",
"hgvs_p": "p.Arg450Ser",
"transcript": "ENST00000675681.1",
"protein_id": "ENSP00000502705.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 604,
"cds_start": 1348,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 1472,
"cdna_end": null,
"cdna_length": 2187,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675681.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.1219C>A",
"hgvs_p": "p.Arg407Ser",
"transcript": "ENST00000675973.1",
"protein_id": "ENSP00000502407.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 561,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1343,
"cdna_end": null,
"cdna_length": 1877,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675973.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.418C>A",
"hgvs_p": "p.Arg140Ser",
"transcript": "ENST00000674644.1",
"protein_id": "ENSP00000502201.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 489,
"cds_start": 418,
"cds_end": null,
"cds_length": 1471,
"cdna_start": 878,
"cdna_end": null,
"cdna_length": 1931,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674644.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.1285C>A",
"hgvs_p": "p.Arg429Ser",
"transcript": "XM_011536281.4",
"protein_id": "XP_011534583.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 886,
"cds_start": 1285,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 2103,
"cdna_end": null,
"cdna_length": 3640,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536281.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.-147C>A",
"hgvs_p": null,
"transcript": "ENST00000415980.2",
"protein_id": "ENSP00000405660.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 409,
"cds_start": null,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1712,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415980.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "n.4544C>A",
"hgvs_p": null,
"transcript": "ENST00000674532.1",
"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": 6030,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000674532.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "n.*780C>A",
"hgvs_p": null,
"transcript": "ENST00000674557.1",
"protein_id": "ENSP00000501608.1",
"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": 2688,
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"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
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"hgvs_c": "n.*27C>A",
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"transcript": "ENST00000675516.1",
"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": 552,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000675516.1"
}
],
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"dbsnp": "rs201072058",
"frequency_reference_population": 0.0000047931153,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000479312,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7124156951904297,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.169,
"revel_prediction": "Benign",
"alphamissense_score": 0.5603,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.689,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_014845.6",
"gene_symbol": "FIG4",
"hgnc_id": 16873,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD,Unknown",
"hgvs_c": "c.1348C>A",
"hgvs_p": "p.Arg450Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}