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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: 4-16176168-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=16176168&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 16176168,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_153365.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPT1",
"gene_hgnc_id": 26887,
"hgvs_c": "c.1058A>G",
"hgvs_p": "p.Asp353Gly",
"transcript": "NM_153365.3",
"protein_id": "NP_699196.2",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 567,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1072,
"cdna_end": null,
"cdna_length": 4521,
"mane_select": "ENST00000405303.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153365.3"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPT1",
"gene_hgnc_id": 26887,
"hgvs_c": "c.1058A>G",
"hgvs_p": "p.Asp353Gly",
"transcript": "ENST00000405303.7",
"protein_id": "ENSP00000385347.2",
"transcript_support_level": 1,
"aa_start": 353,
"aa_end": null,
"aa_length": 567,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1072,
"cdna_end": null,
"cdna_length": 4521,
"mane_select": "NM_153365.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405303.7"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPT1",
"gene_hgnc_id": 26887,
"hgvs_c": "c.1052A>G",
"hgvs_p": "p.Asp351Gly",
"transcript": "ENST00000963923.1",
"protein_id": "ENSP00000633982.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 565,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1071,
"cdna_end": null,
"cdna_length": 3727,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963923.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPT1",
"gene_hgnc_id": 26887,
"hgvs_c": "c.1058A>G",
"hgvs_p": "p.Asp353Gly",
"transcript": "ENST00000963924.1",
"protein_id": "ENSP00000633983.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 544,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1072,
"cdna_end": null,
"cdna_length": 3661,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963924.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPT1",
"gene_hgnc_id": 26887,
"hgvs_c": "c.977A>G",
"hgvs_p": "p.Asp326Gly",
"transcript": "ENST00000880929.1",
"protein_id": "ENSP00000550988.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 540,
"cds_start": 977,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 999,
"cdna_end": null,
"cdna_length": 3662,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880929.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPT1",
"gene_hgnc_id": 26887,
"hgvs_c": "c.923A>G",
"hgvs_p": "p.Asp308Gly",
"transcript": "ENST00000880928.1",
"protein_id": "ENSP00000550987.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 522,
"cds_start": 923,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1000,
"cdna_end": null,
"cdna_length": 3657,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880928.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPT1",
"gene_hgnc_id": 26887,
"hgvs_c": "c.923A>G",
"hgvs_p": "p.Asp308Gly",
"transcript": "XM_011513812.4",
"protein_id": "XP_011512114.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 522,
"cds_start": 923,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 937,
"cdna_end": null,
"cdna_length": 4386,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513812.4"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPT1",
"gene_hgnc_id": 26887,
"hgvs_c": "c.725A>G",
"hgvs_p": "p.Asp242Gly",
"transcript": "XM_011513816.4",
"protein_id": "XP_011512118.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 456,
"cds_start": 725,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 4390,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513816.4"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPT1",
"gene_hgnc_id": 26887,
"hgvs_c": "c.725A>G",
"hgvs_p": "p.Asp242Gly",
"transcript": "XM_047449754.1",
"protein_id": "XP_047305710.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 456,
"cds_start": 725,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 4390,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449754.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPT1",
"gene_hgnc_id": 26887,
"hgvs_c": "c.680A>G",
"hgvs_p": "p.Asp227Gly",
"transcript": "XM_047449755.1",
"protein_id": "XP_047305711.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 441,
"cds_start": 680,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1377,
"cdna_end": null,
"cdna_length": 4826,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449755.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPT1",
"gene_hgnc_id": 26887,
"hgvs_c": "c.635A>G",
"hgvs_p": "p.Asp212Gly",
"transcript": "XM_047449756.1",
"protein_id": "XP_047305712.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 426,
"cds_start": 635,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 4214,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449756.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPT1",
"gene_hgnc_id": 26887,
"hgvs_c": "c.635A>G",
"hgvs_p": "p.Asp212Gly",
"transcript": "XM_047449757.1",
"protein_id": "XP_047305713.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 426,
"cds_start": 635,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 5408,
"cdna_end": null,
"cdna_length": 8857,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449757.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPT1",
"gene_hgnc_id": 26887,
"hgvs_c": "c.1058A>G",
"hgvs_p": "p.Asp353Gly",
"transcript": "XM_047449758.1",
"protein_id": "XP_047305714.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 419,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1072,
"cdna_end": null,
"cdna_length": 1411,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449758.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPT1",
"gene_hgnc_id": 26887,
"hgvs_c": "c.923A>G",
"hgvs_p": "p.Asp308Gly",
"transcript": "XM_047449759.1",
"protein_id": "XP_047305715.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 374,
"cds_start": 923,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 937,
"cdna_end": null,
"cdna_length": 1276,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449759.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPT1",
"gene_hgnc_id": 26887,
"hgvs_c": "c.329A>G",
"hgvs_p": "p.Asp110Gly",
"transcript": "XM_011513817.4",
"protein_id": "XP_011512119.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 324,
"cds_start": 329,
"cds_end": null,
"cds_length": 975,
"cdna_start": 514,
"cdna_end": null,
"cdna_length": 3963,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513817.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TAPT1",
"gene_hgnc_id": 26887,
"hgvs_c": "c.1032+26A>G",
"hgvs_p": null,
"transcript": "ENST00000880930.1",
"protein_id": "ENSP00000550989.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 542,
"cds_start": null,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3657,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880930.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TAPT1",
"gene_hgnc_id": 26887,
"hgvs_c": "c.228-9375A>G",
"hgvs_p": null,
"transcript": "ENST00000928084.1",
"protein_id": "ENSP00000598143.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 205,
"cds_start": null,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1186,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928084.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPT1",
"gene_hgnc_id": 26887,
"hgvs_c": "n.374A>G",
"hgvs_p": null,
"transcript": "ENST00000488714.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 391,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000488714.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPT1",
"gene_hgnc_id": 26887,
"hgvs_c": "n.*573A>G",
"hgvs_p": null,
"transcript": "ENST00000505603.5",
"protein_id": "ENSP00000422652.1",
"transcript_support_level": 2,
"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": 1634,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000505603.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPT1",
"gene_hgnc_id": 26887,
"hgvs_c": "n.434A>G",
"hgvs_p": null,
"transcript": "ENST00000513782.1",
"protein_id": "ENSP00000423359.1",
"transcript_support_level": 2,
"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": 1016,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000513782.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPT1",
"gene_hgnc_id": 26887,
"hgvs_c": "n.*573A>G",
"hgvs_p": null,
"transcript": "ENST00000505603.5",
"protein_id": "ENSP00000422652.1",
"transcript_support_level": 2,
"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": 1634,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000505603.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000296956",
"gene_hgnc_id": null,
"hgvs_c": "n.236-17278T>C",
"hgvs_p": null,
"transcript": "ENST00000743820.1",
"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": 669,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000743820.1"
}
],
"gene_symbol": "TAPT1",
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"dbsnp": "rs869312980",
"frequency_reference_population": 7.012082e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.01208e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9847444891929626,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.27000001072883606,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.89,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9979,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.32,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.644,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.27,
"spliceai_max_prediction": "Uncertain_significance",
"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": "PM2,PM5,PP3_Strong",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PM5",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_153365.3",
"gene_symbol": "TAPT1",
"hgnc_id": 26887,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1058A>G",
"hgvs_p": "p.Asp353Gly"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000743820.1",
"gene_symbol": "ENSG00000296956",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.236-17278T>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}