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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: 18-23556268-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=23556268&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PP2",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NPC1",
"hgnc_id": 7897,
"hgvs_c": "c.1301C>T",
"hgvs_p": "p.Pro434Leu",
"inheritance_mode": "AR",
"pathogenic_score": 13,
"score": 13,
"transcript": "NM_000271.5",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PP2,PP5_Very_Strong",
"acmg_score": 13,
"allele_count_reference_population": 48,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1247,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.18,
"chr": "18",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": " type C1,Niemann-Pick disease,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:2",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5448904037475586,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1278,
"aa_ref": "P",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4760,
"cdna_start": 1464,
"cds_end": null,
"cds_length": 3837,
"cds_start": 1301,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_000271.5",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.1301C>T",
"hgvs_p": "p.Pro434Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000269228.10",
"protein_coding": true,
"protein_id": "NP_000262.2",
"strand": false,
"transcript": "NM_000271.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1278,
"aa_ref": "P",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4760,
"cdna_start": 1464,
"cds_end": null,
"cds_length": 3837,
"cds_start": 1301,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000269228.10",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.1301C>T",
"hgvs_p": "p.Pro434Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000271.5",
"protein_coding": true,
"protein_id": "ENSP00000269228.4",
"strand": false,
"transcript": "ENST00000269228.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1295,
"aa_ref": "P",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6272,
"cdna_start": 1978,
"cds_end": null,
"cds_length": 3888,
"cds_start": 1352,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000897526.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.1352C>T",
"hgvs_p": "p.Pro451Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567585.1",
"strand": false,
"transcript": "ENST00000897526.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1293,
"aa_ref": "P",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4728,
"cdna_start": 1444,
"cds_end": null,
"cds_length": 3882,
"cds_start": 1301,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000926494.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.1301C>T",
"hgvs_p": "p.Pro434Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596553.1",
"strand": false,
"transcript": "ENST00000926494.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1280,
"aa_ref": "P",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4705,
"cdna_start": 1458,
"cds_end": null,
"cds_length": 3843,
"cds_start": 1352,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000897529.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.1352C>T",
"hgvs_p": "p.Pro451Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567588.1",
"strand": false,
"transcript": "ENST00000897529.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1274,
"aa_ref": "P",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4943,
"cdna_start": 1663,
"cds_end": null,
"cds_length": 3825,
"cds_start": 1301,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000897527.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.1301C>T",
"hgvs_p": "p.Pro434Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567586.1",
"strand": false,
"transcript": "ENST00000897527.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1274,
"aa_ref": "P",
"aa_start": 430,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4662,
"cdna_start": 1427,
"cds_end": null,
"cds_length": 3825,
"cds_start": 1289,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000949154.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.1289C>T",
"hgvs_p": "p.Pro430Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619213.1",
"strand": false,
"transcript": "ENST00000949154.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1274,
"aa_ref": "P",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4655,
"cdna_start": 1483,
"cds_end": null,
"cds_length": 3825,
"cds_start": 1352,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000949156.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.1352C>T",
"hgvs_p": "p.Pro451Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619215.1",
"strand": false,
"transcript": "ENST00000949156.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1265,
"aa_ref": "P",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4623,
"cdna_start": 1478,
"cds_end": null,
"cds_length": 3798,
"cds_start": 1352,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000949157.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.1352C>T",
"hgvs_p": "p.Pro451Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619216.1",
"strand": false,
"transcript": "ENST00000949157.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1263,
"aa_ref": "P",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4623,
"cdna_start": 1431,
"cds_end": null,
"cds_length": 3792,
"cds_start": 1301,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000949155.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.1301C>T",
"hgvs_p": "p.Pro434Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619214.1",
"strand": false,
"transcript": "ENST00000949155.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1257,
"aa_ref": "P",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4614,
"cdna_start": 1440,
"cds_end": null,
"cds_length": 3774,
"cds_start": 1301,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000949153.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.1301C>T",
"hgvs_p": "p.Pro434Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619212.1",
"strand": false,
"transcript": "ENST00000949153.1",
"transcript_support_level": null
},
{
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"aa_length": 1248,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4608,
"cdna_start": 1461,
"cds_end": null,
"cds_length": 3747,
"cds_start": 1301,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000926493.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.1301C>T",
"hgvs_p": "p.Pro434Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596552.1",
"strand": false,
"transcript": "ENST00000926493.1",
"transcript_support_level": null
},
{
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"aa_length": 1237,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5030,
"cdna_start": 1791,
"cds_end": null,
"cds_length": 3714,
"cds_start": 1178,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000949151.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.1178C>T",
"hgvs_p": "p.Pro393Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619210.1",
"strand": false,
"transcript": "ENST00000949151.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 1231,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4508,
"cdna_start": 1413,
"cds_end": null,
"cds_length": 3696,
"cds_start": 1301,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000897530.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.1301C>T",
"hgvs_p": "p.Pro434Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567589.1",
"strand": false,
"transcript": "ENST00000897530.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 1222,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4975,
"cdna_start": 1738,
"cds_end": null,
"cds_length": 3669,
"cds_start": 1133,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000949152.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.1133C>T",
"hgvs_p": "p.Pro378Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619211.1",
"strand": false,
"transcript": "ENST00000949152.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1210,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4529,
"cdna_start": 1494,
"cds_end": null,
"cds_length": 3633,
"cds_start": 1301,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000897528.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.1301C>T",
"hgvs_p": "p.Pro434Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567587.1",
"strand": false,
"transcript": "ENST00000897528.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 970,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3171,
"cdna_start": 583,
"cds_end": null,
"cds_length": 2913,
"cds_start": 581,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000591051.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.581C>T",
"hgvs_p": "p.Pro194Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467636.1",
"strand": false,
"transcript": "ENST00000591051.1",
"transcript_support_level": 2
},
{
"aa_alt": "L",
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"biotype": "protein_coding",
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"cds_end": null,
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"cds_start": 1352,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_005258277.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.1352C>T",
"hgvs_p": "p.Pro451Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005258334.1",
"strand": false,
"transcript": "XM_005258277.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_ref": "P",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 1515,
"cds_end": null,
"cds_length": 3888,
"cds_start": 1352,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_005258278.6",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.1352C>T",
"hgvs_p": "p.Pro451Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005258335.1",
"strand": false,
"transcript": "XM_005258278.6",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1286,
"aa_ref": "P",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4376,
"cdna_start": 1464,
"cds_end": null,
"cds_length": 3861,
"cds_start": 1301,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_005258279.3",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.1301C>T",
"hgvs_p": "p.Pro434Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005258336.1",
"strand": false,
"transcript": "XM_005258279.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 1281,
"aa_ref": "P",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5489,
"cdna_start": 1515,
"cds_end": null,
"cds_length": 3846,
"cds_start": 1352,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 8,
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