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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: 18-23534479-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=23534479&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 23534479,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_000271.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.3558C>G",
"hgvs_p": "p.Arg1186Arg",
"transcript": "NM_000271.5",
"protein_id": "NP_000262.2",
"transcript_support_level": null,
"aa_start": 1186,
"aa_end": null,
"aa_length": 1278,
"cds_start": 3558,
"cds_end": null,
"cds_length": 3837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000269228.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000271.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.3558C>G",
"hgvs_p": "p.Arg1186Arg",
"transcript": "ENST00000269228.10",
"protein_id": "ENSP00000269228.4",
"transcript_support_level": 1,
"aa_start": 1186,
"aa_end": null,
"aa_length": 1278,
"cds_start": 3558,
"cds_end": null,
"cds_length": 3837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000271.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000269228.10"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.3609C>G",
"hgvs_p": "p.Arg1203Arg",
"transcript": "ENST00000897526.1",
"protein_id": "ENSP00000567585.1",
"transcript_support_level": null,
"aa_start": 1203,
"aa_end": null,
"aa_length": 1295,
"cds_start": 3609,
"cds_end": null,
"cds_length": 3888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897526.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.3558C>G",
"hgvs_p": "p.Arg1186Arg",
"transcript": "ENST00000926494.1",
"protein_id": "ENSP00000596553.1",
"transcript_support_level": null,
"aa_start": 1186,
"aa_end": null,
"aa_length": 1293,
"cds_start": 3558,
"cds_end": null,
"cds_length": 3882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926494.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.3564C>G",
"hgvs_p": "p.Arg1188Arg",
"transcript": "ENST00000897529.1",
"protein_id": "ENSP00000567588.1",
"transcript_support_level": null,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1280,
"cds_start": 3564,
"cds_end": null,
"cds_length": 3843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897529.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.3546C>G",
"hgvs_p": "p.Arg1182Arg",
"transcript": "ENST00000897527.1",
"protein_id": "ENSP00000567586.1",
"transcript_support_level": null,
"aa_start": 1182,
"aa_end": null,
"aa_length": 1274,
"cds_start": 3546,
"cds_end": null,
"cds_length": 3825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897527.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.3546C>G",
"hgvs_p": "p.Arg1182Arg",
"transcript": "ENST00000949154.1",
"protein_id": "ENSP00000619213.1",
"transcript_support_level": null,
"aa_start": 1182,
"aa_end": null,
"aa_length": 1274,
"cds_start": 3546,
"cds_end": null,
"cds_length": 3825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949154.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.3519C>G",
"hgvs_p": "p.Arg1173Arg",
"transcript": "ENST00000949157.1",
"protein_id": "ENSP00000619216.1",
"transcript_support_level": null,
"aa_start": 1173,
"aa_end": null,
"aa_length": 1265,
"cds_start": 3519,
"cds_end": null,
"cds_length": 3798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949157.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.3513C>G",
"hgvs_p": "p.Arg1171Arg",
"transcript": "ENST00000949155.1",
"protein_id": "ENSP00000619214.1",
"transcript_support_level": null,
"aa_start": 1171,
"aa_end": null,
"aa_length": 1263,
"cds_start": 3513,
"cds_end": null,
"cds_length": 3792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949155.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.3468C>G",
"hgvs_p": "p.Arg1156Arg",
"transcript": "ENST00000926493.1",
"protein_id": "ENSP00000596552.1",
"transcript_support_level": null,
"aa_start": 1156,
"aa_end": null,
"aa_length": 1248,
"cds_start": 3468,
"cds_end": null,
"cds_length": 3747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926493.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.3435C>G",
"hgvs_p": "p.Arg1145Arg",
"transcript": "ENST00000949151.1",
"protein_id": "ENSP00000619210.1",
"transcript_support_level": null,
"aa_start": 1145,
"aa_end": null,
"aa_length": 1237,
"cds_start": 3435,
"cds_end": null,
"cds_length": 3714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949151.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.3417C>G",
"hgvs_p": "p.Arg1139Arg",
"transcript": "ENST00000897530.1",
"protein_id": "ENSP00000567589.1",
"transcript_support_level": null,
"aa_start": 1139,
"aa_end": null,
"aa_length": 1231,
"cds_start": 3417,
"cds_end": null,
"cds_length": 3696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897530.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.3390C>G",
"hgvs_p": "p.Arg1130Arg",
"transcript": "ENST00000949152.1",
"protein_id": "ENSP00000619211.1",
"transcript_support_level": null,
"aa_start": 1130,
"aa_end": null,
"aa_length": 1222,
"cds_start": 3390,
"cds_end": null,
"cds_length": 3669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949152.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.3354C>G",
"hgvs_p": "p.Arg1118Arg",
"transcript": "ENST00000897528.1",
"protein_id": "ENSP00000567587.1",
"transcript_support_level": null,
"aa_start": 1118,
"aa_end": null,
"aa_length": 1210,
"cds_start": 3354,
"cds_end": null,
"cds_length": 3633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897528.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.2634C>G",
"hgvs_p": "p.Arg878Arg",
"transcript": "ENST00000591051.1",
"protein_id": "ENSP00000467636.1",
"transcript_support_level": 2,
"aa_start": 878,
"aa_end": null,
"aa_length": 970,
"cds_start": 2634,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591051.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.234C>G",
"hgvs_p": "p.Arg78Arg",
"transcript": "ENST00000591107.6",
"protein_id": "ENSP00000468438.1",
"transcript_support_level": 3,
"aa_start": 78,
"aa_end": null,
"aa_length": 178,
"cds_start": 234,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591107.6"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.312C>G",
"hgvs_p": "p.Arg104Arg",
"transcript": "ENST00000586150.5",
"protein_id": "ENSP00000468321.1",
"transcript_support_level": 3,
"aa_start": 104,
"aa_end": null,
"aa_length": 174,
"cds_start": 312,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586150.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.3609C>G",
"hgvs_p": "p.Arg1203Arg",
"transcript": "XM_005258277.1",
"protein_id": "XP_005258334.1",
"transcript_support_level": null,
"aa_start": 1203,
"aa_end": null,
"aa_length": 1303,
"cds_start": 3609,
"cds_end": null,
"cds_length": 3912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005258277.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.3609C>G",
"hgvs_p": "p.Arg1203Arg",
"transcript": "XM_005258278.6",
"protein_id": "XP_005258335.1",
"transcript_support_level": null,
"aa_start": 1203,
"aa_end": null,
"aa_length": 1295,
"cds_start": 3609,
"cds_end": null,
"cds_length": 3888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005258278.6"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.3558C>G",
"hgvs_p": "p.Arg1186Arg",
"transcript": "XM_005258279.3",
"protein_id": "XP_005258336.1",
"transcript_support_level": null,
"aa_start": 1186,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3558,
"cds_end": null,
"cds_length": 3861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005258279.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.3609C>G",
"hgvs_p": "p.Arg1203Arg",
"transcript": "XM_017025784.1",
"protein_id": "XP_016881273.1",
"transcript_support_level": null,
"aa_start": 1203,
"aa_end": null,
"aa_length": 1281,
"cds_start": 3609,
"cds_end": null,
"cds_length": 3846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025784.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.3609C>G",
"hgvs_p": "p.Arg1203Arg",
"transcript": "XM_006722479.4",
"protein_id": "XP_006722542.1",
"transcript_support_level": null,
"aa_start": 1203,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3609,
"cds_end": null,
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"cdna_start": null,
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],
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"computational_score_selected": -0.8700000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.14000000059604645,
"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.87,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -5,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
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"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
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"inheritance_mode": "AR",
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],
"clinvar_disease": " type C1,Niemann-Pick disease",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Niemann-Pick disease, type C1",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}