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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: 10-94171182-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=94171182&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 94171182,
"ref": "C",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_016341.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.1495C>A",
"hgvs_p": "p.Arg499Ser",
"transcript": "NM_016341.4",
"protein_id": "NP_057425.3",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 2302,
"cds_start": 1495,
"cds_end": null,
"cds_length": 6909,
"cdna_start": 2187,
"cdna_end": null,
"cdna_length": 12481,
"mane_select": "ENST00000371380.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.1495C>A",
"hgvs_p": "p.Arg499Ser",
"transcript": "ENST00000371380.8",
"protein_id": "ENSP00000360431.2",
"transcript_support_level": 1,
"aa_start": 499,
"aa_end": null,
"aa_length": 2302,
"cds_start": 1495,
"cds_end": null,
"cds_length": 6909,
"cdna_start": 2187,
"cdna_end": null,
"cdna_length": 12481,
"mane_select": "NM_016341.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.571C>A",
"hgvs_p": "p.Arg191Ser",
"transcript": "ENST00000371375.2",
"protein_id": "ENSP00000360426.1",
"transcript_support_level": 1,
"aa_start": 191,
"aa_end": null,
"aa_length": 1994,
"cds_start": 571,
"cds_end": null,
"cds_length": 5985,
"cdna_start": 571,
"cdna_end": null,
"cdna_length": 9275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.1495C>A",
"hgvs_p": "p.Arg499Ser",
"transcript": "NM_001288989.2",
"protein_id": "NP_001275918.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 2286,
"cds_start": 1495,
"cds_end": null,
"cds_length": 6861,
"cdna_start": 2187,
"cdna_end": null,
"cdna_length": 12433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.1495C>A",
"hgvs_p": "p.Arg499Ser",
"transcript": "ENST00000692396.1",
"protein_id": "ENSP00000508605.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 2286,
"cds_start": 1495,
"cds_end": null,
"cds_length": 6861,
"cdna_start": 2084,
"cdna_end": null,
"cdna_length": 9157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.1495C>A",
"hgvs_p": "p.Arg499Ser",
"transcript": "ENST00000692286.1",
"protein_id": "ENSP00000509490.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 2230,
"cds_start": 1495,
"cds_end": null,
"cds_length": 6694,
"cdna_start": 1825,
"cdna_end": null,
"cdna_length": 7024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.571C>A",
"hgvs_p": "p.Arg191Ser",
"transcript": "NM_001165979.2",
"protein_id": "NP_001159451.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 1994,
"cds_start": 571,
"cds_end": null,
"cds_length": 5985,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 6503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.571C>A",
"hgvs_p": "p.Arg191Ser",
"transcript": "ENST00000675218.1",
"protein_id": "ENSP00000501910.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 1994,
"cds_start": 571,
"cds_end": null,
"cds_length": 5985,
"cdna_start": 571,
"cdna_end": null,
"cdna_length": 6381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.571C>A",
"hgvs_p": "p.Arg191Ser",
"transcript": "ENST00000688810.1",
"protein_id": "ENSP00000509140.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 1978,
"cds_start": 571,
"cds_end": null,
"cds_length": 5937,
"cdna_start": 571,
"cdna_end": null,
"cdna_length": 7644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.571C>A",
"hgvs_p": "p.Arg191Ser",
"transcript": "ENST00000371385.8",
"protein_id": "ENSP00000360438.4",
"transcript_support_level": 5,
"aa_start": 191,
"aa_end": null,
"aa_length": 1960,
"cds_start": 571,
"cds_end": null,
"cds_length": 5883,
"cdna_start": 626,
"cdna_end": null,
"cdna_length": 6360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.340C>A",
"hgvs_p": "p.Arg114Ser",
"transcript": "ENST00000676102.1",
"protein_id": "ENSP00000502811.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 1369,
"cds_start": 340,
"cds_end": null,
"cds_length": 4111,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 4166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.1495C>A",
"hgvs_p": "p.Arg499Ser",
"transcript": "XM_006717885.5",
"protein_id": "XP_006717948.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 2316,
"cds_start": 1495,
"cds_end": null,
"cds_length": 6951,
"cdna_start": 2187,
"cdna_end": null,
"cdna_length": 12523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.1495C>A",
"hgvs_p": "p.Arg499Ser",
"transcript": "XM_017016310.3",
"protein_id": "XP_016871799.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 2316,
"cds_start": 1495,
"cds_end": null,
"cds_length": 6951,
"cdna_start": 2234,
"cdna_end": null,
"cdna_length": 12570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.1495C>A",
"hgvs_p": "p.Arg499Ser",
"transcript": "XM_017016311.3",
"protein_id": "XP_016871800.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 2316,
"cds_start": 1495,
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"cdna_start": 2187,
"cdna_end": null,
"cdna_length": 10857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.1495C>A",
"hgvs_p": "p.Arg499Ser",
"transcript": "XM_047425284.1",
"protein_id": "XP_047281240.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 2316,
"cds_start": 1495,
"cds_end": null,
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"cdna_start": 1913,
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"cdna_length": 12249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
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"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.1495C>A",
"hgvs_p": "p.Arg499Ser",
"transcript": "XM_047425285.1",
"protein_id": "XP_047281241.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 2316,
"cds_start": 1495,
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"cdna_start": 3669,
"cdna_end": null,
"cdna_length": 14005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.1495C>A",
"hgvs_p": "p.Arg499Ser",
"transcript": "XM_047425286.1",
"protein_id": "XP_047281242.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 2316,
"cds_start": 1495,
"cds_end": null,
"cds_length": 6951,
"cdna_start": 2272,
"cdna_end": null,
"cdna_length": 12608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.1495C>A",
"hgvs_p": "p.Arg499Ser",
"transcript": "XM_047425287.1",
"protein_id": "XP_047281243.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 2316,
"cds_start": 1495,
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"cdna_start": 2319,
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"cdna_length": 12655,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.1495C>A",
"hgvs_p": "p.Arg499Ser",
"transcript": "XM_006717888.5",
"protein_id": "XP_006717951.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 2315,
"cds_start": 1495,
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"cdna_start": 2187,
"cdna_end": null,
"cdna_length": 12520,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.1495C>A",
"hgvs_p": "p.Arg499Ser",
"transcript": "XM_047425288.1",
"protein_id": "XP_047281244.1",
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"aa_start": 499,
"aa_end": null,
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"cds_start": 1495,
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"cdna_start": 2187,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.1495C>A",
"hgvs_p": "p.Arg499Ser",
"transcript": "XM_047425289.1",
"protein_id": "XP_047281245.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 2302,
"cds_start": 1495,
"cds_end": null,
"cds_length": 6909,
"cdna_start": 2479,
"cdna_end": null,
"cdna_length": 12773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.1495C>A",
"hgvs_p": "p.Arg499Ser",
"transcript": "XM_047425290.1",
"protein_id": "XP_047281246.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 2302,
"cds_start": 1495,
"cds_end": null,
"cds_length": 6909,
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},
{
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"non_coding_transcript_exon_variant"
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{
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},
{
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"gene_symbol": "PLCE1",
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}
],
"gene_symbol": "PLCE1",
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"dbsnp": "rs61751493",
"frequency_reference_population": 0.0000020524833,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
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"gnomad_exomes_ac": 3,
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4810118079185486,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10999999940395355,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.364,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4558,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.277,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.11,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
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"verdict": "Uncertain_significance",
"transcript": "NM_016341.4",
"gene_symbol": "PLCE1",
"hgnc_id": 17175,
"effects": [
"missense_variant",
"splice_region_variant"
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"inheritance_mode": "AR,AD",
"hgvs_c": "c.1495C>A",
"hgvs_p": "p.Arg499Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}