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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: 2-190995184-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=190995184&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 190995184,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000361099.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT1",
"gene_hgnc_id": 11362,
"hgvs_c": "c.821G>A",
"hgvs_p": "p.Arg274Gln",
"transcript": "NM_007315.4",
"protein_id": "NP_009330.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 750,
"cds_start": 821,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 1130,
"cdna_end": null,
"cdna_length": 4116,
"mane_select": "ENST00000361099.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT1",
"gene_hgnc_id": 11362,
"hgvs_c": "c.821G>A",
"hgvs_p": "p.Arg274Gln",
"transcript": "ENST00000361099.8",
"protein_id": "ENSP00000354394.4",
"transcript_support_level": 1,
"aa_start": 274,
"aa_end": null,
"aa_length": 750,
"cds_start": 821,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 1130,
"cdna_end": null,
"cdna_length": 4116,
"mane_select": "NM_007315.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT1",
"gene_hgnc_id": 11362,
"hgvs_c": "c.821G>A",
"hgvs_p": "p.Arg274Gln",
"transcript": "ENST00000409465.5",
"protein_id": "ENSP00000386244.1",
"transcript_support_level": 1,
"aa_start": 274,
"aa_end": null,
"aa_length": 750,
"cds_start": 821,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 1253,
"cdna_end": null,
"cdna_length": 3097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT1",
"gene_hgnc_id": 11362,
"hgvs_c": "c.821G>A",
"hgvs_p": "p.Arg274Gln",
"transcript": "ENST00000392322.7",
"protein_id": "ENSP00000376136.3",
"transcript_support_level": 1,
"aa_start": 274,
"aa_end": null,
"aa_length": 712,
"cds_start": 821,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1127,
"cdna_end": null,
"cdna_length": 2716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT1",
"gene_hgnc_id": 11362,
"hgvs_c": "n.*147G>A",
"hgvs_p": null,
"transcript": "ENST00000452281.6",
"protein_id": "ENSP00000394512.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT1",
"gene_hgnc_id": 11362,
"hgvs_c": "n.*147G>A",
"hgvs_p": null,
"transcript": "ENST00000452281.6",
"protein_id": "ENSP00000394512.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT1",
"gene_hgnc_id": 11362,
"hgvs_c": "c.821G>A",
"hgvs_p": "p.Arg274Gln",
"transcript": "ENST00000673952.1",
"protein_id": "ENSP00000501115.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 791,
"cds_start": 821,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 3385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT1",
"gene_hgnc_id": 11362,
"hgvs_c": "c.821G>A",
"hgvs_p": "p.Arg274Gln",
"transcript": "ENST00000673847.1",
"protein_id": "ENSP00000501185.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 779,
"cds_start": 821,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 3559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT1",
"gene_hgnc_id": 11362,
"hgvs_c": "c.857G>A",
"hgvs_p": "p.Arg286Gln",
"transcript": "NM_001384891.1",
"protein_id": "NP_001371820.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 762,
"cds_start": 857,
"cds_end": null,
"cds_length": 2289,
"cdna_start": 1166,
"cdna_end": null,
"cdna_length": 4152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT1",
"gene_hgnc_id": 11362,
"hgvs_c": "c.821G>A",
"hgvs_p": "p.Arg274Gln",
"transcript": "NM_001384886.1",
"protein_id": "NP_001371815.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 758,
"cds_start": 821,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 1130,
"cdna_end": null,
"cdna_length": 4140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT1",
"gene_hgnc_id": 11362,
"hgvs_c": "c.827G>A",
"hgvs_p": "p.Arg276Gln",
"transcript": "NM_001384881.1",
"protein_id": "NP_001371810.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 752,
"cds_start": 827,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 1213,
"cdna_end": null,
"cdna_length": 4199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT1",
"gene_hgnc_id": 11362,
"hgvs_c": "c.821G>A",
"hgvs_p": "p.Arg274Gln",
"transcript": "NM_001437284.1",
"protein_id": "NP_001424213.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 750,
"cds_start": 821,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 976,
"cdna_end": null,
"cdna_length": 3962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT1",
"gene_hgnc_id": 11362,
"hgvs_c": "c.821G>A",
"hgvs_p": "p.Arg274Gln",
"transcript": "ENST00000540176.6",
"protein_id": "ENSP00000438703.2",
"transcript_support_level": 5,
"aa_start": 274,
"aa_end": null,
"aa_length": 750,
"cds_start": 821,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 1036,
"cdna_end": null,
"cdna_length": 4020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT1",
"gene_hgnc_id": 11362,
"hgvs_c": "c.821G>A",
"hgvs_p": "p.Arg274Gln",
"transcript": "ENST00000698141.1",
"protein_id": "ENSP00000513582.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 750,
"cds_start": 821,
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"cdna_start": 1221,
"cdna_end": null,
"cdna_length": 5495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT1",
"gene_hgnc_id": 11362,
"hgvs_c": "c.821G>A",
"hgvs_p": "p.Arg274Gln",
"transcript": "NM_001384882.1",
"protein_id": "NP_001371811.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 748,
"cds_start": 821,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 1130,
"cdna_end": null,
"cdna_length": 4110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT1",
"gene_hgnc_id": 11362,
"hgvs_c": "c.821G>A",
"hgvs_p": "p.Arg274Gln",
"transcript": "ENST00000673777.1",
"protein_id": "ENSP00000500982.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 748,
"cds_start": 821,
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"cdna_start": 1058,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT1",
"gene_hgnc_id": 11362,
"hgvs_c": "c.821G>A",
"hgvs_p": "p.Arg274Gln",
"transcript": "ENST00000673816.1",
"protein_id": "ENSP00000501127.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 748,
"cds_start": 821,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 3145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT1",
"gene_hgnc_id": 11362,
"hgvs_c": "c.821G>A",
"hgvs_p": "p.Arg274Gln",
"transcript": "ENST00000673942.1",
"protein_id": "ENSP00000501145.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 748,
"cds_start": 821,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 1120,
"cdna_end": null,
"cdna_length": 3937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT1",
"gene_hgnc_id": 11362,
"hgvs_c": "c.821G>A",
"hgvs_p": "p.Arg274Gln",
"transcript": "NM_001384889.1",
"protein_id": "NP_001371818.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 746,
"cds_start": 821,
"cds_end": null,
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"cdna_start": 1130,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT1",
"gene_hgnc_id": 11362,
"hgvs_c": "c.821G>A",
"hgvs_p": "p.Arg274Gln",
"transcript": "NM_001384888.1",
"protein_id": "NP_001371817.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 740,
"cds_start": 821,
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"cdna_start": 1130,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT1",
"gene_hgnc_id": 11362,
"hgvs_c": "c.821G>A",
"hgvs_p": "p.Arg274Gln",
"transcript": "NM_001384880.1",
"protein_id": "NP_001371809.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 730,
"cds_start": 821,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 1130,
"cdna_end": null,
"cdna_length": 4056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT1",
"gene_hgnc_id": 11362,
"hgvs_c": "c.821G>A",
"hgvs_p": "p.Arg274Gln",
"transcript": "ENST00000698142.1",
"protein_id": "ENSP00000513583.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 730,
"cds_start": 821,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 1117,
"cdna_end": null,
"cdna_length": 4498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT1",
"gene_hgnc_id": 11362,
"hgvs_c": "c.731G>A",
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}
],
"gene_symbol": "STAT1",
"gene_hgnc_id": 11362,
"dbsnp": "rs387906760",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8374850749969482,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.598,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3258,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.23,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.964,
"phylop100way_prediction": "Uncertain_significance",
"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": 14,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PM5,PP2,PP3,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PM2",
"PM5",
"PP2",
"PP3",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000361099.8",
"gene_symbol": "STAT1",
"hgnc_id": 11362,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.821G>A",
"hgvs_p": "p.Arg274Gln"
}
],
"clinvar_disease": "Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome,Immunodeficiency 31B,Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency,STAT1-related disorder,See cases,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:5",
"phenotype_combined": "Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome|Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome;Immunodeficiency 31B;Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency|not provided|STAT1-related disorder|See cases",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}