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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: 9-133154040-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=133154040&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 133154040,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_021996.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.581G>C",
"hgvs_p": "p.Arg194Thr",
"transcript": "NM_021996.6",
"protein_id": "NP_068836.2",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 347,
"cds_start": 581,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372040.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021996.6"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.581G>C",
"hgvs_p": "p.Arg194Thr",
"transcript": "ENST00000372040.9",
"protein_id": "ENSP00000361110.3",
"transcript_support_level": 1,
"aa_start": 194,
"aa_end": null,
"aa_length": 347,
"cds_start": 581,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021996.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372040.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.*1134G>C",
"hgvs_p": null,
"transcript": "ENST00000470431.5",
"protein_id": "ENSP00000495017.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 120,
"cds_start": null,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000470431.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285245",
"gene_hgnc_id": null,
"hgvs_c": "c.396+1138G>C",
"hgvs_p": null,
"transcript": "ENST00000647146.1",
"protein_id": "ENSP00000493691.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 985,
"cds_start": null,
"cds_end": null,
"cds_length": 2958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647146.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.650G>C",
"hgvs_p": "p.Arg217Thr",
"transcript": "ENST00000953305.1",
"protein_id": "ENSP00000623364.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 370,
"cds_start": 650,
"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": "ENST00000953305.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.629G>C",
"hgvs_p": "p.Arg210Thr",
"transcript": "ENST00000953298.1",
"protein_id": "ENSP00000623357.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 363,
"cds_start": 629,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953298.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.599G>C",
"hgvs_p": "p.Arg200Thr",
"transcript": "ENST00000913414.1",
"protein_id": "ENSP00000583473.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 353,
"cds_start": 599,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913414.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.599G>C",
"hgvs_p": "p.Arg200Thr",
"transcript": "ENST00000953297.1",
"protein_id": "ENSP00000623356.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 353,
"cds_start": 599,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953297.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.599G>C",
"hgvs_p": "p.Arg200Thr",
"transcript": "ENST00000953302.1",
"protein_id": "ENSP00000623361.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 353,
"cds_start": 599,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953302.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.581G>C",
"hgvs_p": "p.Arg194Thr",
"transcript": "ENST00000900751.1",
"protein_id": "ENSP00000570810.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 347,
"cds_start": 581,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900751.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.581G>C",
"hgvs_p": "p.Arg194Thr",
"transcript": "ENST00000913413.1",
"protein_id": "ENSP00000583472.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 347,
"cds_start": 581,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913413.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.581G>C",
"hgvs_p": "p.Arg194Thr",
"transcript": "ENST00000953293.1",
"protein_id": "ENSP00000623352.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 347,
"cds_start": 581,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953293.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.581G>C",
"hgvs_p": "p.Arg194Thr",
"transcript": "ENST00000953294.1",
"protein_id": "ENSP00000623353.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 347,
"cds_start": 581,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953294.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.581G>C",
"hgvs_p": "p.Arg194Thr",
"transcript": "ENST00000953300.1",
"protein_id": "ENSP00000623359.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 347,
"cds_start": 581,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953300.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.578G>C",
"hgvs_p": "p.Arg193Thr",
"transcript": "ENST00000953301.1",
"protein_id": "ENSP00000623360.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 346,
"cds_start": 578,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953301.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.557G>C",
"hgvs_p": "p.Arg186Thr",
"transcript": "ENST00000900748.1",
"protein_id": "ENSP00000570807.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 339,
"cds_start": 557,
"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": "ENST00000900748.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.557G>C",
"hgvs_p": "p.Arg186Thr",
"transcript": "ENST00000953304.1",
"protein_id": "ENSP00000623363.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 339,
"cds_start": 557,
"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": "ENST00000953304.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.530G>C",
"hgvs_p": "p.Arg177Thr",
"transcript": "NM_001282632.2",
"protein_id": "NP_001269561.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 330,
"cds_start": 530,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282632.2"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.530G>C",
"hgvs_p": "p.Arg177Thr",
"transcript": "ENST00000540636.6",
"protein_id": "ENSP00000437663.1",
"transcript_support_level": 2,
"aa_start": 177,
"aa_end": null,
"aa_length": 330,
"cds_start": 530,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540636.6"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.464G>C",
"hgvs_p": "p.Arg155Thr",
"transcript": "ENST00000900749.1",
"protein_id": "ENSP00000570808.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 308,
"cds_start": 464,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900749.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.464G>C",
"hgvs_p": "p.Arg155Thr",
"transcript": "ENST00000953295.1",
"protein_id": "ENSP00000623354.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 308,
"cds_start": 464,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953295.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBGT1",
"gene_hgnc_id": 20460,
"hgvs_c": "c.464G>C",
"hgvs_p": "p.Arg155Thr",
"transcript": "ENST00000953296.1",
"protein_id": "ENSP00000623355.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 308,
"cds_start": 464,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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{
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{
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{
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{
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],
"gene_symbol": "GBGT1",
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"dbsnp": "rs145248624",
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"hom_count_reference_population": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.045117318630218506,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.053,
"revel_prediction": "Benign",
"alphamissense_score": 0.0742,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.622,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_021996.6",
"gene_symbol": "GBGT1",
"hgnc_id": 20460,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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},
{
"score": -4,
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"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000647146.1",
"gene_symbol": "ENSG00000285245",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.396+1138G>C",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}