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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: X-12706923-CTTTTTTTTT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=12706923&ref=CTTTTTTTTT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 12706923,
"ref": "CTTTTTTTTT",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001368395.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "FRMPD4",
"gene_hgnc_id": 29007,
"hgvs_c": "c.1287+18_1287+26delTTTTTTTTT",
"hgvs_p": null,
"transcript": "NM_001368397.1",
"protein_id": "NP_001355326.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1762,
"cds_start": null,
"cds_end": null,
"cds_length": 5289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000675598.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368397.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "FRMPD4",
"gene_hgnc_id": 29007,
"hgvs_c": "c.1287+9_1287+17delTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000675598.1",
"protein_id": "ENSP00000502607.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1762,
"cds_start": null,
"cds_end": null,
"cds_length": 5289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001368397.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675598.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "FRMPD4",
"gene_hgnc_id": 29007,
"hgvs_c": "c.1287+9_1287+17delTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000380682.5",
"protein_id": "ENSP00000370057.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1322,
"cds_start": null,
"cds_end": null,
"cds_length": 3969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380682.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "FRMPD4",
"gene_hgnc_id": 29007,
"hgvs_c": "c.1398+18_1398+26delTTTTTTTTT",
"hgvs_p": null,
"transcript": "NM_001368395.3",
"protein_id": "NP_001355324.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1799,
"cds_start": null,
"cds_end": null,
"cds_length": 5400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368395.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "FRMPD4",
"gene_hgnc_id": 29007,
"hgvs_c": "c.1341+9_1341+17delTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000656302.1",
"protein_id": "ENSP00000499481.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1780,
"cds_start": null,
"cds_end": null,
"cds_length": 5343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000656302.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "FRMPD4",
"gene_hgnc_id": 29007,
"hgvs_c": "c.1293+18_1293+26delTTTTTTTTT",
"hgvs_p": null,
"transcript": "NM_001368396.3",
"protein_id": "NP_001355325.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1764,
"cds_start": null,
"cds_end": null,
"cds_length": 5295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368396.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "FRMPD4",
"gene_hgnc_id": 29007,
"hgvs_c": "c.1398+18_1398+26delTTTTTTTTT",
"hgvs_p": null,
"transcript": "NM_001368398.3",
"protein_id": "NP_001355327.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1359,
"cds_start": null,
"cds_end": null,
"cds_length": 4080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368398.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "FRMPD4",
"gene_hgnc_id": 29007,
"hgvs_c": "c.1341+9_1341+17delTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000640291.2",
"protein_id": "ENSP00000492353.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1340,
"cds_start": null,
"cds_end": null,
"cds_length": 4023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640291.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "FRMPD4",
"gene_hgnc_id": 29007,
"hgvs_c": "c.1341+9_1341+17delTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000672869.2",
"protein_id": "ENSP00000500566.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1338,
"cds_start": null,
"cds_end": null,
"cds_length": 4018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672869.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "FRMPD4",
"gene_hgnc_id": 29007,
"hgvs_c": "c.1287+18_1287+26delTTTTTTTTT",
"hgvs_p": null,
"transcript": "NM_014728.3",
"protein_id": "NP_055543.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1322,
"cds_start": null,
"cds_end": null,
"cds_length": 3969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014728.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "FRMPD4",
"gene_hgnc_id": 29007,
"hgvs_c": "c.1278+18_1278+26delTTTTTTTTT",
"hgvs_p": null,
"transcript": "NM_001368399.3",
"protein_id": "NP_001355328.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1319,
"cds_start": null,
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"cds_length": 3960,
"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001368399.3"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "FRMPD4",
"gene_hgnc_id": 29007,
"hgvs_c": "c.1278+9_1278+17delTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000672010.1",
"protein_id": "ENSP00000499962.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1319,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672010.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "FRMPD4",
"gene_hgnc_id": 29007,
"hgvs_c": "c.1263+18_1263+26delTTTTTTTTT",
"hgvs_p": null,
"transcript": "NM_001368401.1",
"protein_id": "NP_001355330.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001368401.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "FRMPD4",
"gene_hgnc_id": 29007,
"hgvs_c": "c.1263+18_1263+26delTTTTTTTTT",
"hgvs_p": null,
"transcript": "NM_001368402.3",
"protein_id": "NP_001355331.1",
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368402.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "FRMPD4",
"gene_hgnc_id": 29007,
"hgvs_c": "c.1167+18_1167+26delTTTTTTTTT",
"hgvs_p": null,
"transcript": "NM_001368400.3",
"protein_id": "NP_001355329.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"biotype": "protein_coding",
"feature": "NM_001368400.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
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"exon_count": 18,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "FRMPD4",
"gene_hgnc_id": 29007,
"hgvs_c": "c.1167+9_1167+17delTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000616992.2",
"protein_id": "ENSP00000482182.2",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000616992.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "FRMPD4",
"gene_hgnc_id": 29007,
"hgvs_c": "c.1263+9_1263+17delTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000657176.2",
"protein_id": "ENSP00000499417.2",
"transcript_support_level": null,
"aa_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000657176.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "FRMPD4",
"gene_hgnc_id": 29007,
"hgvs_c": "c.1287+18_1287+26delTTTTTTTTT",
"hgvs_p": null,
"transcript": "XM_005274632.4",
"protein_id": "XP_005274689.3",
"transcript_support_level": null,
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"feature": "XM_005274632.4"
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "FRMPD4",
"gene_hgnc_id": 29007,
"hgvs_c": "c.1278+18_1278+26delTTTTTTTTT",
"hgvs_p": null,
"transcript": "XM_017029983.2",
"protein_id": "XP_016885472.1",
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"biotype": "protein_coding",
"feature": "XM_017029983.2"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
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"intron_rank_end": null,
"gene_symbol": "FRMPD4",
"gene_hgnc_id": 29007,
"hgvs_c": "c.1198-536_1198-528delTTTTTTTTT",
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"transcript": "XM_017029984.2",
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"biotype": "protein_coding",
"feature": "XM_017029984.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "FRMPD4",
"gene_hgnc_id": 29007,
"hgvs_c": "c.1287+18_1287+26delTTTTTTTTT",
"hgvs_p": null,
"transcript": "XM_017029985.2",
"protein_id": "XP_016885474.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1322,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029985.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "FRMPD4",
"gene_hgnc_id": 29007,
"hgvs_c": "c.1189-536_1189-528delTTTTTTTTT",
"hgvs_p": null,
"transcript": "XM_047442680.1",
"protein_id": "XP_047298636.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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{
"aa_ref": null,
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"biotype": "pseudogene",
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{
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"protein_coding": false,
"strand": true,
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"intron_variant"
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"transcript": "ENST00000673271.2",
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"biotype": "pseudogene",
"feature": "ENST00000673271.2"
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],
"gene_symbol": "FRMPD4",
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"dbsnp": "rs746601138",
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"hom_count_reference_population": 5,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.0000170791,
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"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 2,
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"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.484,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001368395.3",
"gene_symbol": "FRMPD4",
"hgnc_id": 29007,
"effects": [
"intron_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.1398+18_1398+26delTTTTTTTTT",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}