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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: 6-168059165-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=168059165&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 168059165,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000283309.11",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD1",
"gene_hgnc_id": 21240,
"hgvs_c": "c.1366C>A",
"hgvs_p": "p.Gln456Lys",
"transcript": "NM_024919.6",
"protein_id": "NP_079195.3",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 549,
"cds_start": 1366,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 1484,
"cdna_end": null,
"cdna_length": 5770,
"mane_select": "ENST00000283309.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD1",
"gene_hgnc_id": 21240,
"hgvs_c": "c.1366C>A",
"hgvs_p": "p.Gln456Lys",
"transcript": "ENST00000283309.11",
"protein_id": "ENSP00000283309.6",
"transcript_support_level": 1,
"aa_start": 456,
"aa_end": null,
"aa_length": 549,
"cds_start": 1366,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 1484,
"cdna_end": null,
"cdna_length": 5770,
"mane_select": "NM_024919.6",
"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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD1",
"gene_hgnc_id": 21240,
"hgvs_c": "n.1053C>A",
"hgvs_p": null,
"transcript": "ENST00000432403.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 2650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD1",
"gene_hgnc_id": 21240,
"hgvs_c": "c.1561C>A",
"hgvs_p": "p.Gln521Lys",
"transcript": "ENST00000646385.1",
"protein_id": "ENSP00000494166.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 614,
"cds_start": 1561,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1927,
"cdna_end": null,
"cdna_length": 6142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD1",
"gene_hgnc_id": 21240,
"hgvs_c": "c.1354C>A",
"hgvs_p": "p.Gln452Lys",
"transcript": "ENST00000644440.1",
"protein_id": "ENSP00000496464.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 545,
"cds_start": 1354,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1452,
"cdna_end": null,
"cdna_length": 5667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD1",
"gene_hgnc_id": 21240,
"hgvs_c": "c.1171C>A",
"hgvs_p": "p.Gln391Lys",
"transcript": "NM_001394681.1",
"protein_id": "NP_001381610.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 484,
"cds_start": 1171,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1208,
"cdna_end": null,
"cdna_length": 5494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD1",
"gene_hgnc_id": 21240,
"hgvs_c": "c.1171C>A",
"hgvs_p": "p.Gln391Lys",
"transcript": "ENST00000336070.11",
"protein_id": "ENSP00000495639.1",
"transcript_support_level": 2,
"aa_start": 391,
"aa_end": null,
"aa_length": 484,
"cds_start": 1171,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1208,
"cdna_end": null,
"cdna_length": 1600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD1",
"gene_hgnc_id": 21240,
"hgvs_c": "c.1162C>A",
"hgvs_p": "p.Gln388Lys",
"transcript": "NM_001122841.3",
"protein_id": "NP_001116313.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 481,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 1250,
"cdna_end": null,
"cdna_length": 5465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD1",
"gene_hgnc_id": 21240,
"hgvs_c": "c.1162C>A",
"hgvs_p": "p.Gln388Lys",
"transcript": "ENST00000440994.6",
"protein_id": "ENSP00000414115.2",
"transcript_support_level": 2,
"aa_start": 388,
"aa_end": null,
"aa_length": 481,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 1281,
"cdna_end": null,
"cdna_length": 2857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD1",
"gene_hgnc_id": 21240,
"hgvs_c": "c.1561C>A",
"hgvs_p": "p.Gln521Lys",
"transcript": "XM_011536137.2",
"protein_id": "XP_011534439.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 614,
"cds_start": 1561,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1939,
"cdna_end": null,
"cdna_length": 6225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD1",
"gene_hgnc_id": 21240,
"hgvs_c": "c.1492C>A",
"hgvs_p": "p.Gln498Lys",
"transcript": "XM_017011317.2",
"protein_id": "XP_016866806.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 591,
"cds_start": 1492,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1869,
"cdna_end": null,
"cdna_length": 6155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD1",
"gene_hgnc_id": 21240,
"hgvs_c": "c.1375C>A",
"hgvs_p": "p.Gln459Lys",
"transcript": "XM_011536138.2",
"protein_id": "XP_011534440.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 552,
"cds_start": 1375,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1451,
"cdna_end": null,
"cdna_length": 5737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD1",
"gene_hgnc_id": 21240,
"hgvs_c": "c.1294C>A",
"hgvs_p": "p.Gln432Lys",
"transcript": "XM_011536140.2",
"protein_id": "XP_011534442.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 525,
"cds_start": 1294,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1435,
"cdna_end": null,
"cdna_length": 5721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD1",
"gene_hgnc_id": 21240,
"hgvs_c": "c.1237C>A",
"hgvs_p": "p.Gln413Lys",
"transcript": "XM_011536141.2",
"protein_id": "XP_011534443.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 506,
"cds_start": 1237,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 1339,
"cdna_end": null,
"cdna_length": 5625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD1",
"gene_hgnc_id": 21240,
"hgvs_c": "c.1237C>A",
"hgvs_p": "p.Gln413Lys",
"transcript": "XM_011536142.3",
"protein_id": "XP_011534444.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 506,
"cds_start": 1237,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 1381,
"cdna_end": null,
"cdna_length": 5667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD1",
"gene_hgnc_id": 21240,
"hgvs_c": "c.1237C>A",
"hgvs_p": "p.Gln413Lys",
"transcript": "XM_011536143.2",
"protein_id": "XP_011534445.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 506,
"cds_start": 1237,
"cds_end": null,
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"cdna_start": 1360,
"cdna_end": null,
"cdna_length": 5646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD1",
"gene_hgnc_id": 21240,
"hgvs_c": "c.1231C>A",
"hgvs_p": "p.Gln411Lys",
"transcript": "XM_011536145.2",
"protein_id": "XP_011534447.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 504,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 1319,
"cdna_end": null,
"cdna_length": 5605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD1",
"gene_hgnc_id": 21240,
"hgvs_c": "c.748C>A",
"hgvs_p": "p.Gln250Lys",
"transcript": "XM_017011318.2",
"protein_id": "XP_016866807.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 343,
"cds_start": 748,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 2169,
"cdna_end": null,
"cdna_length": 6455,
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD1",
"gene_hgnc_id": 21240,
"hgvs_c": "n.3100C>A",
"hgvs_p": null,
"transcript": "ENST00000358587.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 4677,
"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": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD1",
"gene_hgnc_id": 21240,
"hgvs_c": "n.*1483C>A",
"hgvs_p": null,
"transcript": "ENST00000468647.5",
"protein_id": "ENSP00000427668.1",
"transcript_support_level": 2,
"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": 3821,
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD1",
"gene_hgnc_id": 21240,
"hgvs_c": "n.*1001C>A",
"hgvs_p": null,
"transcript": "ENST00000509157.5",
"protein_id": "ENSP00000423552.1",
"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": 2108,
"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": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD1",
"gene_hgnc_id": 21240,
"hgvs_c": "n.2054C>A",
"hgvs_p": null,
"transcript": "NR_110312.2",
"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": 6559,
"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": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD1",
"gene_hgnc_id": 21240,
"hgvs_c": "n.*1483C>A",
"hgvs_p": null,
"transcript": "ENST00000468647.5",
"protein_id": "ENSP00000427668.1",
"transcript_support_level": 2,
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{
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}
],
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"computational_score_selected": 0.022548526525497437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.038,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.76,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000283309.11",
"gene_symbol": "FRMD1",
"hgnc_id": 21240,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1366C>A",
"hgvs_p": "p.Gln456Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}