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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-91877414-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=91877414&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 91877414,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032968.5",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH11X",
"gene_hgnc_id": 8656,
"hgvs_c": "c.1174C>T",
"hgvs_p": "p.His392Tyr",
"transcript": "NM_032968.5",
"protein_id": "NP_116750.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 1347,
"cds_start": 1174,
"cds_end": null,
"cds_length": 4044,
"cdna_start": 1862,
"cdna_end": null,
"cdna_length": 9022,
"mane_select": "ENST00000682573.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH11X",
"gene_hgnc_id": 8656,
"hgvs_c": "c.1174C>T",
"hgvs_p": "p.His392Tyr",
"transcript": "ENST00000682573.1",
"protein_id": "ENSP00000507225.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 1347,
"cds_start": 1174,
"cds_end": null,
"cds_length": 4044,
"cdna_start": 1862,
"cdna_end": null,
"cdna_length": 9022,
"mane_select": "NM_032968.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH11X",
"gene_hgnc_id": 8656,
"hgvs_c": "c.1174C>T",
"hgvs_p": "p.His392Tyr",
"transcript": "ENST00000373094.5",
"protein_id": "ENSP00000362186.1",
"transcript_support_level": 1,
"aa_start": 392,
"aa_end": null,
"aa_length": 1347,
"cds_start": 1174,
"cds_end": null,
"cds_length": 4044,
"cdna_start": 2019,
"cdna_end": null,
"cdna_length": 9179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH11X",
"gene_hgnc_id": 8656,
"hgvs_c": "c.1174C>T",
"hgvs_p": "p.His392Tyr",
"transcript": "ENST00000406881.3",
"protein_id": "ENSP00000384758.1",
"transcript_support_level": 1,
"aa_start": 392,
"aa_end": null,
"aa_length": 1339,
"cds_start": 1174,
"cds_end": null,
"cds_length": 4020,
"cdna_start": 1174,
"cdna_end": null,
"cdna_length": 4156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH11X",
"gene_hgnc_id": 8656,
"hgvs_c": "c.1174C>T",
"hgvs_p": "p.His392Tyr",
"transcript": "ENST00000373097.5",
"protein_id": "ENSP00000362189.1",
"transcript_support_level": 1,
"aa_start": 392,
"aa_end": null,
"aa_length": 1337,
"cds_start": 1174,
"cds_end": null,
"cds_length": 4014,
"cdna_start": 2019,
"cdna_end": null,
"cdna_length": 9146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH11X",
"gene_hgnc_id": 8656,
"hgvs_c": "c.1174C>T",
"hgvs_p": "p.His392Tyr",
"transcript": "ENST00000361655.6",
"protein_id": "ENSP00000355105.2",
"transcript_support_level": 1,
"aa_start": 392,
"aa_end": null,
"aa_length": 1329,
"cds_start": 1174,
"cds_end": null,
"cds_length": 3990,
"cdna_start": 1174,
"cdna_end": null,
"cdna_length": 4126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH11X",
"gene_hgnc_id": 8656,
"hgvs_c": "c.1174C>T",
"hgvs_p": "p.His392Tyr",
"transcript": "ENST00000373088.5",
"protein_id": "ENSP00000362180.1",
"transcript_support_level": 1,
"aa_start": 392,
"aa_end": null,
"aa_length": 1310,
"cds_start": 1174,
"cds_end": null,
"cds_length": 3933,
"cdna_start": 1174,
"cdna_end": null,
"cdna_length": 4069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH11X",
"gene_hgnc_id": 8656,
"hgvs_c": "c.1174C>T",
"hgvs_p": "p.His392Tyr",
"transcript": "ENST00000504220.6",
"protein_id": "ENSP00000423762.1",
"transcript_support_level": 1,
"aa_start": 392,
"aa_end": null,
"aa_length": 1065,
"cds_start": 1174,
"cds_end": null,
"cds_length": 3198,
"cdna_start": 1174,
"cdna_end": null,
"cdna_length": 4017,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH11X",
"gene_hgnc_id": 8656,
"hgvs_c": "n.1807C>T",
"hgvs_p": null,
"transcript": "ENST00000298274.12",
"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": 4767,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH11X",
"gene_hgnc_id": 8656,
"hgvs_c": "n.2019C>T",
"hgvs_p": null,
"transcript": "ENST00000361724.3",
"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": 4603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH11X",
"gene_hgnc_id": 8656,
"hgvs_c": "c.1174C>T",
"hgvs_p": "p.His392Tyr",
"transcript": "NM_001168360.1",
"protein_id": "NP_001161832.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 1339,
"cds_start": 1174,
"cds_end": null,
"cds_length": 4020,
"cdna_start": 1218,
"cdna_end": null,
"cdna_length": 8354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH11X",
"gene_hgnc_id": 8656,
"hgvs_c": "c.1174C>T",
"hgvs_p": "p.His392Tyr",
"transcript": "NM_032969.4",
"protein_id": "NP_116751.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 1337,
"cds_start": 1174,
"cds_end": null,
"cds_length": 4014,
"cdna_start": 1218,
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"cdna_length": 8348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH11X",
"gene_hgnc_id": 8656,
"hgvs_c": "c.1174C>T",
"hgvs_p": "p.His392Tyr",
"transcript": "NM_001168363.1",
"protein_id": "NP_001161835.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 1329,
"cds_start": 1174,
"cds_end": null,
"cds_length": 3990,
"cdna_start": 1218,
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"cdna_length": 8324,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH11X",
"gene_hgnc_id": 8656,
"hgvs_c": "c.1174C>T",
"hgvs_p": "p.His392Tyr",
"transcript": "NM_001168362.1",
"protein_id": "NP_001161834.1",
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"cdna_start": 1218,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH11X",
"gene_hgnc_id": 8656,
"hgvs_c": "c.1174C>T",
"hgvs_p": "p.His392Tyr",
"transcript": "NM_001168361.1",
"protein_id": "NP_001161833.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 1065,
"cds_start": 1174,
"cds_end": null,
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"cdna_start": 1218,
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"cdna_length": 8215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH11X",
"gene_hgnc_id": 8656,
"hgvs_c": "c.1261C>T",
"hgvs_p": "p.His421Tyr",
"transcript": "XM_011530910.1",
"protein_id": "XP_011529212.1",
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"aa_start": 421,
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"cdna_start": 1693,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH11X",
"gene_hgnc_id": 8656,
"hgvs_c": "c.1261C>T",
"hgvs_p": "p.His421Tyr",
"transcript": "XM_011530911.3",
"protein_id": "XP_011529213.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 1376,
"cds_start": 1261,
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"cds_length": 4131,
"cdna_start": 1916,
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"cdna_length": 9076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH11X",
"gene_hgnc_id": 8656,
"hgvs_c": "c.1261C>T",
"hgvs_p": "p.His421Tyr",
"transcript": "XM_047441993.1",
"protein_id": "XP_047297949.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 1368,
"cds_start": 1261,
"cds_end": null,
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"cdna_start": 4139,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH11X",
"gene_hgnc_id": 8656,
"hgvs_c": "c.1261C>T",
"hgvs_p": "p.His421Tyr",
"transcript": "XM_047441994.1",
"protein_id": "XP_047297950.1",
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},
{
"aa_ref": "H",
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH11X",
"gene_hgnc_id": 8656,
"hgvs_c": "c.1174C>T",
"hgvs_p": "p.His392Tyr",
"transcript": "XM_011530914.3",
"protein_id": "XP_011529216.1",
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"aa_start": 392,
"aa_end": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH11X",
"gene_hgnc_id": 8656,
"hgvs_c": "c.1174C>T",
"hgvs_p": "p.His392Tyr",
"transcript": "XM_017029416.2",
"protein_id": "XP_016884905.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 1345,
"cds_start": 1174,
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"cdna_start": 1218,
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"cdna_length": 8372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH11X",
"gene_hgnc_id": 8656,
"hgvs_c": "c.1174C>T",
"hgvs_p": "p.His392Tyr",
"transcript": "XM_017029419.2",
"protein_id": "XP_016884908.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 1308,
"cds_start": 1174,
"cds_end": null,
"cds_length": 3927,
"cdna_start": 1218,
"cdna_end": null,
"cdna_length": 8261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH11X",
"gene_hgnc_id": 8656,
"hgvs_c": "c.1174C>T",
"hgvs_p": "p.His392Tyr",
"transcript": "XM_017029421.2",
"protein_id": "XP_016884910.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 1076,
"cds_start": 1174,
"cds_end": null,
"cds_length": 3231,
"cdna_start": 1218,
"cdna_end": null,
"cdna_length": 7295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"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": "PCDH11X",
"gene_hgnc_id": 8656,
"hgvs_c": "c.1261C>T",
"hgvs_p": "p.His421Tyr",
"transcript": "XM_047441995.1",
"protein_id": "XP_047297951.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 1054,
"cds_start": 1261,
"cds_end": null,
"cds_length": 3165,
"cdna_start": 4139,
"cdna_end": null,
"cdna_length": 10398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PCDH11X",
"gene_hgnc_id": 8656,
"dbsnp": "rs746010686",
"frequency_reference_population": 0.000004973104,
"hom_count_reference_population": 3,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000455336,
"gnomad_genomes_af": 0.00000922509,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09423142671585083,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.086,
"revel_prediction": "Benign",
"alphamissense_score": 0.0813,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.77,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.01,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_032968.5",
"gene_symbol": "PCDH11X",
"hgnc_id": 8656,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1174C>T",
"hgvs_p": "p.His392Tyr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}