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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: 8-119732046-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=119732046&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 119732046,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000378164.7",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "c.3478A>C",
"hgvs_p": "p.Lys1160Gln",
"transcript": "NM_003184.4",
"protein_id": "NP_003175.2",
"transcript_support_level": null,
"aa_start": 1160,
"aa_end": null,
"aa_length": 1199,
"cds_start": 3478,
"cds_end": null,
"cds_length": 3600,
"cdna_start": 3755,
"cdna_end": null,
"cdna_length": 5027,
"mane_select": "ENST00000378164.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "c.3478A>C",
"hgvs_p": "p.Lys1160Gln",
"transcript": "ENST00000378164.7",
"protein_id": "ENSP00000367406.2",
"transcript_support_level": 1,
"aa_start": 1160,
"aa_end": null,
"aa_length": 1199,
"cds_start": 3478,
"cds_end": null,
"cds_length": 3600,
"cdna_start": 3755,
"cdna_end": null,
"cdna_length": 5027,
"mane_select": "NM_003184.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "c.3634A>C",
"hgvs_p": "p.Lys1212Gln",
"transcript": "ENST00000686879.1",
"protein_id": "ENSP00000509206.1",
"transcript_support_level": null,
"aa_start": 1212,
"aa_end": null,
"aa_length": 1251,
"cds_start": 3634,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 3925,
"cdna_end": null,
"cdna_length": 5016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "c.3523A>C",
"hgvs_p": "p.Lys1175Gln",
"transcript": "ENST00000685235.1",
"protein_id": "ENSP00000510174.1",
"transcript_support_level": null,
"aa_start": 1175,
"aa_end": null,
"aa_length": 1214,
"cds_start": 3523,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 3814,
"cdna_end": null,
"cdna_length": 4891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "c.3367A>C",
"hgvs_p": "p.Lys1123Gln",
"transcript": "ENST00000688645.1",
"protein_id": "ENSP00000509978.1",
"transcript_support_level": null,
"aa_start": 1123,
"aa_end": null,
"aa_length": 1162,
"cds_start": 3367,
"cds_end": null,
"cds_length": 3489,
"cdna_start": 3658,
"cdna_end": null,
"cdna_length": 4911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "c.3364A>C",
"hgvs_p": "p.Lys1122Gln",
"transcript": "ENST00000523904.2",
"protein_id": "ENSP00000430832.2",
"transcript_support_level": 3,
"aa_start": 1122,
"aa_end": null,
"aa_length": 1161,
"cds_start": 3364,
"cds_end": null,
"cds_length": 3486,
"cdna_start": 3634,
"cdna_end": null,
"cdna_length": 4887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "n.*1003A>C",
"hgvs_p": null,
"transcript": "ENST00000685202.1",
"protein_id": "ENSP00000509214.1",
"transcript_support_level": null,
"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": 5187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "n.*2870A>C",
"hgvs_p": null,
"transcript": "ENST00000685503.1",
"protein_id": "ENSP00000509198.1",
"transcript_support_level": null,
"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": 5202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "n.*3350A>C",
"hgvs_p": null,
"transcript": "ENST00000685663.1",
"protein_id": "ENSP00000508988.1",
"transcript_support_level": null,
"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": 5237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "n.*4945A>C",
"hgvs_p": null,
"transcript": "ENST00000685684.1",
"protein_id": "ENSP00000509441.1",
"transcript_support_level": null,
"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": 7061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "n.*3179A>C",
"hgvs_p": null,
"transcript": "ENST00000685824.1",
"protein_id": "ENSP00000510262.1",
"transcript_support_level": null,
"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": 4834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "n.*3196A>C",
"hgvs_p": null,
"transcript": "ENST00000685876.1",
"protein_id": "ENSP00000510493.1",
"transcript_support_level": null,
"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": 5090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "n.*3293A>C",
"hgvs_p": null,
"transcript": "ENST00000685993.1",
"protein_id": "ENSP00000510102.1",
"transcript_support_level": null,
"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": 4946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "n.*2123A>C",
"hgvs_p": null,
"transcript": "ENST00000686098.1",
"protein_id": "ENSP00000509102.1",
"transcript_support_level": null,
"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": 4922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "n.*2897A>C",
"hgvs_p": null,
"transcript": "ENST00000688037.1",
"protein_id": "ENSP00000510169.1",
"transcript_support_level": null,
"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": 4586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "n.*3085A>C",
"hgvs_p": null,
"transcript": "ENST00000689919.1",
"protein_id": "ENSP00000510768.1",
"transcript_support_level": null,
"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": 4965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "n.*2714A>C",
"hgvs_p": null,
"transcript": "ENST00000690808.1",
"protein_id": "ENSP00000509791.1",
"transcript_support_level": null,
"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": 4861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "n.*1890A>C",
"hgvs_p": null,
"transcript": "ENST00000690922.1",
"protein_id": "ENSP00000509498.1",
"transcript_support_level": null,
"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": 5001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "n.*3134A>C",
"hgvs_p": null,
"transcript": "ENST00000691880.1",
"protein_id": "ENSP00000508515.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "n.*3344A>C",
"hgvs_p": null,
"transcript": "ENST00000692518.1",
"protein_id": "ENSP00000508959.1",
"transcript_support_level": null,
"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": 5006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "n.*3346A>C",
"hgvs_p": null,
"transcript": "ENST00000692707.1",
"protein_id": "ENSP00000509024.1",
"transcript_support_level": null,
"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": 5249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "n.*2865A>C",
"hgvs_p": null,
"transcript": "ENST00000692916.1",
"protein_id": "ENSP00000509603.1",
"transcript_support_level": null,
"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": 4665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "c.*609A>C",
"hgvs_p": null,
"transcript": "ENST00000690144.1",
"protein_id": "ENSP00000510548.1",
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},
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],
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}
],
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"dbsnp": "rs755785500",
"frequency_reference_population": 0.000022305634,
"hom_count_reference_population": 0,
"allele_count_reference_population": 36,
"gnomad_exomes_af": 0.0000198393,
"gnomad_genomes_af": 0.0000459939,
"gnomad_exomes_ac": 29,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2379351258277893,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.16,
"revel_prediction": "Benign",
"alphamissense_score": 0.7745,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.289,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000378164.7",
"gene_symbol": "TAF2",
"hgnc_id": 11536,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3478A>C",
"hgvs_p": "p.Lys1160Gln"
}
],
"clinvar_disease": "Inborn genetic diseases,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "not specified|Inborn genetic diseases|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}