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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: 18-23539446-CGA-TAG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=23539446&ref=CGA&alt=TAG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS1_Very_Strong",
"PM1",
"PM5",
"PP2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NPC1",
"hgnc_id": 7897,
"hgvs_c": "c.2818_2820delTCGinsCTA",
"hgvs_p": "p.Ser940Leu",
"inheritance_mode": "AR",
"pathogenic_score": 14,
"score": 14,
"transcript": "NM_000271.5",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS1_Very_Strong,PM1,PM5,PP2,PP3",
"acmg_score": 14,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TAG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "18",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1278,
"aa_ref": "S",
"aa_start": 940,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4760,
"cdna_start": 2983,
"cds_end": null,
"cds_length": 3837,
"cds_start": 2818,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000271.5",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.2818_2820delTCGinsCTA",
"hgvs_p": "p.Ser940Leu",
"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": "S",
"aa_start": 940,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4760,
"cdna_start": 2983,
"cds_end": null,
"cds_length": 3837,
"cds_start": 2818,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000269228.10",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.2818_2820delTCGinsCTA",
"hgvs_p": "p.Ser940Leu",
"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": "S",
"aa_start": 957,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6272,
"cdna_start": 3497,
"cds_end": null,
"cds_length": 3888,
"cds_start": 2869,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897526.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.2869_2871delTCGinsCTA",
"hgvs_p": "p.Ser957Leu",
"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": "S",
"aa_start": 940,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4728,
"cdna_start": 2963,
"cds_end": null,
"cds_length": 3882,
"cds_start": 2818,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926494.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.2818_2820delTCGinsCTA",
"hgvs_p": "p.Ser940Leu",
"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": "S",
"aa_start": 942,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4705,
"cdna_start": 2932,
"cds_end": null,
"cds_length": 3843,
"cds_start": 2824,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897529.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.2824_2826delTCGinsCTA",
"hgvs_p": "p.Ser942Leu",
"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": "S",
"aa_start": 936,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4943,
"cdna_start": 3170,
"cds_end": null,
"cds_length": 3825,
"cds_start": 2806,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897527.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.2806_2808delTCGinsCTA",
"hgvs_p": "p.Ser936Leu",
"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": "S",
"aa_start": 936,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4662,
"cdna_start": 2946,
"cds_end": null,
"cds_length": 3825,
"cds_start": 2806,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000949154.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.2806_2808delTCGinsCTA",
"hgvs_p": "p.Ser936Leu",
"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": "S",
"aa_start": 957,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4655,
"cdna_start": 3002,
"cds_end": null,
"cds_length": 3825,
"cds_start": 2869,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000949156.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.2869_2871delTCGinsCTA",
"hgvs_p": "p.Ser957Leu",
"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": "S",
"aa_start": 927,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4623,
"cdna_start": 2907,
"cds_end": null,
"cds_length": 3798,
"cds_start": 2779,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000949157.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.2779_2781delTCGinsCTA",
"hgvs_p": "p.Ser927Leu",
"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": "S",
"aa_start": 925,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4623,
"cdna_start": 2905,
"cds_end": null,
"cds_length": 3792,
"cds_start": 2773,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000949155.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.2773_2775delTCGinsCTA",
"hgvs_p": "p.Ser925Leu",
"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": "S",
"aa_start": 940,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4614,
"cdna_start": 2959,
"cds_end": null,
"cds_length": 3774,
"cds_start": 2818,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000949153.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.2818_2820delTCGinsCTA",
"hgvs_p": "p.Ser940Leu",
"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
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1248,
"aa_ref": "S",
"aa_start": 910,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4608,
"cdna_start": 2890,
"cds_end": null,
"cds_length": 3747,
"cds_start": 2728,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926493.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.2728_2730delTCGinsCTA",
"hgvs_p": "p.Ser910Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596552.1",
"strand": false,
"transcript": "ENST00000926493.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1237,
"aa_ref": "S",
"aa_start": 899,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5030,
"cdna_start": 3310,
"cds_end": null,
"cds_length": 3714,
"cds_start": 2695,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000949151.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.2695_2697delTCGinsCTA",
"hgvs_p": "p.Ser899Leu",
"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",
"aa_end": null,
"aa_length": 1231,
"aa_ref": "S",
"aa_start": 893,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4508,
"cdna_start": 2791,
"cds_end": null,
"cds_length": 3696,
"cds_start": 2677,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897530.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.2677_2679delTCGinsCTA",
"hgvs_p": "p.Ser893Leu",
"intron_rank": null,
"intron_rank_end": null,
"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",
"aa_end": null,
"aa_length": 1222,
"aa_ref": "S",
"aa_start": 884,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4975,
"cdna_start": 3257,
"cds_end": null,
"cds_length": 3669,
"cds_start": 2650,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000949152.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.2650_2652delTCGinsCTA",
"hgvs_p": "p.Ser884Leu",
"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": "S",
"aa_start": 872,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4529,
"cdna_start": 2809,
"cds_end": null,
"cds_length": 3633,
"cds_start": 2614,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897528.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.2614_2616delTCGinsCTA",
"hgvs_p": "p.Ser872Leu",
"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": "S",
"aa_start": 632,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3171,
"cdna_start": 1898,
"cds_end": null,
"cds_length": 2913,
"cds_start": 1894,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000591051.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.1894_1896delTCGinsCTA",
"hgvs_p": "p.Ser632Leu",
"intron_rank": null,
"intron_rank_end": null,
"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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"aa_length": 1303,
"aa_ref": "S",
"aa_start": 957,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4427,
"cdna_start": 3034,
"cds_end": null,
"cds_length": 3912,
"cds_start": 2869,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005258277.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.2869_2871delTCGinsCTA",
"hgvs_p": "p.Ser957Leu",
"intron_rank": null,
"intron_rank_end": null,
"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": "S",
"aa_start": 957,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4811,
"cdna_start": 3034,
"cds_end": null,
"cds_length": 3888,
"cds_start": 2869,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005258278.6",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.2869_2871delTCGinsCTA",
"hgvs_p": "p.Ser957Leu",
"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": "S",
"aa_start": 940,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4376,
"cdna_start": 2983,
"cds_end": null,
"cds_length": 3861,
"cds_start": 2818,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005258279.3",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.2818_2820delTCGinsCTA",
"hgvs_p": "p.Ser940Leu",
"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",
"aa_end": null,
"aa_length": 1281,
"aa_ref": "S",
"aa_start": 957,
"biotype": "protein_coding",
"canonical": false,
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