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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: 3-136443400-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=136443400&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 136443400,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_005862.3",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG1",
"gene_hgnc_id": 11354,
"hgvs_c": "c.1433A>C",
"hgvs_p": "p.His478Pro",
"transcript": "NM_005862.3",
"protein_id": "NP_005853.2",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 1258,
"cds_start": 1433,
"cds_end": null,
"cds_length": 3777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000383202.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005862.3"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG1",
"gene_hgnc_id": 11354,
"hgvs_c": "c.1433A>C",
"hgvs_p": "p.His478Pro",
"transcript": "ENST00000383202.7",
"protein_id": "ENSP00000372689.2",
"transcript_support_level": 1,
"aa_start": 478,
"aa_end": null,
"aa_length": 1258,
"cds_start": 1433,
"cds_end": null,
"cds_length": 3777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005862.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000383202.7"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG1",
"gene_hgnc_id": 11354,
"hgvs_c": "c.1433A>C",
"hgvs_p": "p.His478Pro",
"transcript": "ENST00000236698.9",
"protein_id": "ENSP00000236698.5",
"transcript_support_level": 1,
"aa_start": 478,
"aa_end": null,
"aa_length": 1221,
"cds_start": 1433,
"cds_end": null,
"cds_length": 3666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000236698.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG1",
"gene_hgnc_id": 11354,
"hgvs_c": "n.*1525A>C",
"hgvs_p": null,
"transcript": "ENST00000483235.5",
"protein_id": "ENSP00000419093.1",
"transcript_support_level": 1,
"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": "ENST00000483235.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG1",
"gene_hgnc_id": 11354,
"hgvs_c": "n.*1072A>C",
"hgvs_p": null,
"transcript": "ENST00000487065.5",
"protein_id": "ENSP00000418472.1",
"transcript_support_level": 1,
"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": "ENST00000487065.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG1",
"gene_hgnc_id": 11354,
"hgvs_c": "n.*1525A>C",
"hgvs_p": null,
"transcript": "ENST00000483235.5",
"protein_id": "ENSP00000419093.1",
"transcript_support_level": 1,
"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": "ENST00000483235.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG1",
"gene_hgnc_id": 11354,
"hgvs_c": "n.*1072A>C",
"hgvs_p": null,
"transcript": "ENST00000487065.5",
"protein_id": "ENSP00000418472.1",
"transcript_support_level": 1,
"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": "ENST00000487065.5"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG1",
"gene_hgnc_id": 11354,
"hgvs_c": "c.1463A>C",
"hgvs_p": "p.His488Pro",
"transcript": "ENST00000862968.1",
"protein_id": "ENSP00000533027.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 1268,
"cds_start": 1463,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862968.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG1",
"gene_hgnc_id": 11354,
"hgvs_c": "c.1433A>C",
"hgvs_p": "p.His478Pro",
"transcript": "ENST00000968454.1",
"protein_id": "ENSP00000638513.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 1265,
"cds_start": 1433,
"cds_end": null,
"cds_length": 3798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968454.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG1",
"gene_hgnc_id": 11354,
"hgvs_c": "c.1433A>C",
"hgvs_p": "p.His478Pro",
"transcript": "ENST00000862965.1",
"protein_id": "ENSP00000533024.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 1258,
"cds_start": 1433,
"cds_end": null,
"cds_length": 3777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862965.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG1",
"gene_hgnc_id": 11354,
"hgvs_c": "c.1433A>C",
"hgvs_p": "p.His478Pro",
"transcript": "ENST00000862966.1",
"protein_id": "ENSP00000533025.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 1258,
"cds_start": 1433,
"cds_end": null,
"cds_length": 3777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862966.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG1",
"gene_hgnc_id": 11354,
"hgvs_c": "c.1433A>C",
"hgvs_p": "p.His478Pro",
"transcript": "ENST00000862969.1",
"protein_id": "ENSP00000533028.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 1258,
"cds_start": 1433,
"cds_end": null,
"cds_length": 3777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862969.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG1",
"gene_hgnc_id": 11354,
"hgvs_c": "c.1433A>C",
"hgvs_p": "p.His478Pro",
"transcript": "ENST00000968452.1",
"protein_id": "ENSP00000638511.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 1258,
"cds_start": 1433,
"cds_end": null,
"cds_length": 3777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968452.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG1",
"gene_hgnc_id": 11354,
"hgvs_c": "c.1433A>C",
"hgvs_p": "p.His478Pro",
"transcript": "ENST00000968456.1",
"protein_id": "ENSP00000638515.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 1258,
"cds_start": 1433,
"cds_end": null,
"cds_length": 3777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968456.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG1",
"gene_hgnc_id": 11354,
"hgvs_c": "c.1433A>C",
"hgvs_p": "p.His478Pro",
"transcript": "ENST00000862964.1",
"protein_id": "ENSP00000533023.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 1231,
"cds_start": 1433,
"cds_end": null,
"cds_length": 3696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862964.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG1",
"gene_hgnc_id": 11354,
"hgvs_c": "c.1433A>C",
"hgvs_p": "p.His478Pro",
"transcript": "ENST00000862967.1",
"protein_id": "ENSP00000533026.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 1227,
"cds_start": 1433,
"cds_end": null,
"cds_length": 3684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862967.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG1",
"gene_hgnc_id": 11354,
"hgvs_c": "c.1433A>C",
"hgvs_p": "p.His478Pro",
"transcript": "ENST00000968455.1",
"protein_id": "ENSP00000638514.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 1190,
"cds_start": 1433,
"cds_end": null,
"cds_length": 3573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968455.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG1",
"gene_hgnc_id": 11354,
"hgvs_c": "c.1433A>C",
"hgvs_p": "p.His478Pro",
"transcript": "ENST00000968453.1",
"protein_id": "ENSP00000638512.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 1153,
"cds_start": 1433,
"cds_end": null,
"cds_length": 3462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968453.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG1",
"gene_hgnc_id": 11354,
"hgvs_c": "c.755A>C",
"hgvs_p": "p.His252Pro",
"transcript": "ENST00000434713.6",
"protein_id": "ENSP00000404396.2",
"transcript_support_level": 5,
"aa_start": 252,
"aa_end": null,
"aa_length": 998,
"cds_start": 755,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434713.6"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG1",
"gene_hgnc_id": 11354,
"hgvs_c": "c.263A>C",
"hgvs_p": "p.His88Pro",
"transcript": "ENST00000492318.1",
"protein_id": "ENSP00000419317.1",
"transcript_support_level": 5,
"aa_start": 88,
"aa_end": null,
"aa_length": 188,
"cds_start": 263,
"cds_end": null,
"cds_length": 568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000492318.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG1",
"gene_hgnc_id": 11354,
"hgvs_c": "c.1142A>C",
"hgvs_p": "p.His381Pro",
"transcript": "XM_047447228.1",
"protein_id": "XP_047303184.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 1161,
"cds_start": 1142,
"cds_end": null,
"cds_length": 3486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447228.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG1",
"gene_hgnc_id": 11354,
"hgvs_c": "c.1142A>C",
"hgvs_p": "p.His381Pro",
"transcript": "XM_047447229.1",
"protein_id": "XP_047303185.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 1161,
"cds_start": 1142,
"cds_end": null,
"cds_length": 3486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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{
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"biotype": "pseudogene",
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],
"gene_symbol": "STAG1",
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"dbsnp": "rs1553722309",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.8544092178344727,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.574,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9809,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.13,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.017,
"phylop100way_prediction": "Pathogenic",
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"spliceai_max_prediction": "Benign",
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"acmg_score": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 7,
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"pathogenic_score": 7,
"criteria": [
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"PM5",
"PP3_Moderate",
"PP5"
],
"verdict": "Likely_pathogenic",
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],
"clinvar_disease": " autosomal dominant 47,Intellectual disability,STAG1-related disorder",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Intellectual disability, autosomal dominant 47|STAG1-related disorder",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}