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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: 22-23834152-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=23834152&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 23834152,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001362877.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.1130G>T",
"hgvs_p": "p.Arg377Leu",
"transcript": "NM_003073.5",
"protein_id": "NP_003064.2",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 385,
"cds_start": 1130,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000644036.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003073.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.1130G>T",
"hgvs_p": "p.Arg377Leu",
"transcript": "ENST00000644036.2",
"protein_id": "ENSP00000494049.2",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 385,
"cds_start": 1130,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003073.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644036.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.1103G>T",
"hgvs_p": "p.Arg368Leu",
"transcript": "ENST00000407422.8",
"protein_id": "ENSP00000383984.3",
"transcript_support_level": 1,
"aa_start": 368,
"aa_end": null,
"aa_length": 376,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407422.8"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.992G>T",
"hgvs_p": "p.Arg331Leu",
"transcript": "ENST00000263121.12",
"protein_id": "ENSP00000263121.8",
"transcript_support_level": 1,
"aa_start": 331,
"aa_end": null,
"aa_length": 339,
"cds_start": 992,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263121.12"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.1184G>T",
"hgvs_p": "p.Arg395Leu",
"transcript": "NM_001362877.2",
"protein_id": "NP_001349806.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 403,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362877.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.1181G>T",
"hgvs_p": "p.Arg394Leu",
"transcript": "ENST00000877795.1",
"protein_id": "ENSP00000547854.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 402,
"cds_start": 1181,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877795.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.1160G>T",
"hgvs_p": "p.Arg387Leu",
"transcript": "ENST00000877796.1",
"protein_id": "ENSP00000547855.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 395,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877796.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.1157G>T",
"hgvs_p": "p.Arg386Leu",
"transcript": "NM_001317946.2",
"protein_id": "NP_001304875.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 394,
"cds_start": 1157,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317946.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.1157G>T",
"hgvs_p": "p.Arg386Leu",
"transcript": "ENST00000344921.11",
"protein_id": "ENSP00000340883.6",
"transcript_support_level": 2,
"aa_start": 386,
"aa_end": null,
"aa_length": 394,
"cds_start": 1157,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344921.11"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.1154G>T",
"hgvs_p": "p.Arg385Leu",
"transcript": "ENST00000877792.1",
"protein_id": "ENSP00000547851.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 393,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877792.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.1133G>T",
"hgvs_p": "p.Arg378Leu",
"transcript": "ENST00000877797.1",
"protein_id": "ENSP00000547856.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 386,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877797.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.1106G>T",
"hgvs_p": "p.Arg369Leu",
"transcript": "ENST00000877793.1",
"protein_id": "ENSP00000547852.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 377,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877793.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.1103G>T",
"hgvs_p": "p.Arg368Leu",
"transcript": "NM_001007468.3",
"protein_id": "NP_001007469.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 376,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001007468.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.1100G>T",
"hgvs_p": "p.Arg367Leu",
"transcript": "ENST00000923808.1",
"protein_id": "ENSP00000593867.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 375,
"cds_start": 1100,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923808.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.1085G>T",
"hgvs_p": "p.Arg362Leu",
"transcript": "ENST00000948392.1",
"protein_id": "ENSP00000618451.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 370,
"cds_start": 1085,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948392.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.1073G>T",
"hgvs_p": "p.Arg358Leu",
"transcript": "ENST00000877791.1",
"protein_id": "ENSP00000547850.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 366,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877791.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.1070G>T",
"hgvs_p": "p.Arg357Leu",
"transcript": "ENST00000948393.1",
"protein_id": "ENSP00000618452.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 365,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948393.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.1043G>T",
"hgvs_p": "p.Arg348Leu",
"transcript": "ENST00000877794.1",
"protein_id": "ENSP00000547853.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 356,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877794.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "n.*1197G>T",
"hgvs_p": null,
"transcript": "ENST00000644462.1",
"protein_id": "ENSP00000494283.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000644462.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "n.2452G>T",
"hgvs_p": null,
"transcript": "ENST00000645799.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000645799.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "n.3476G>T",
"hgvs_p": null,
"transcript": "ENST00000646723.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000646723.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "n.*624G>T",
"hgvs_p": null,
"transcript": "ENST00000647057.1",
"protein_id": "ENSP00000494757.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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{
"aa_ref": null,
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"canonical": false,
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"strand": true,
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"3_prime_UTR_variant"
],
"exon_rank": 8,
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"exon_count": 8,
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"gene_symbol": "SMARCB1",
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"hgvs_c": "n.*1197G>T",
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"transcript": "ENST00000644462.1",
"protein_id": "ENSP00000494283.1",
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"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
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"biotype": "nonsense_mediated_decay",
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
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"exon_count": 7,
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"gene_symbol": "SMARCB1",
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"hgvs_c": "n.*624G>T",
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"transcript": "ENST00000647057.1",
"protein_id": "ENSP00000494757.1",
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"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000647057.1"
}
],
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"dbsnp": "rs387906812",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8701074123382568,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.886,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9992,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.52,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.63,
"phylop100way_prediction": "Pathogenic",
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001362877.2",
"gene_symbol": "SMARCB1",
"hgnc_id": 11103,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1184G>T",
"hgvs_p": "p.Arg395Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}