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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: 3-100748273-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=100748273&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 100748273,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_006070.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.945G>A",
"hgvs_p": "p.Pro315Pro",
"transcript": "NM_006070.6",
"protein_id": "NP_006061.2",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 400,
"cds_start": 945,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1216,
"cdna_end": null,
"cdna_length": 1907,
"mane_select": "ENST00000240851.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006070.6"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.945G>A",
"hgvs_p": "p.Pro315Pro",
"transcript": "ENST00000240851.9",
"protein_id": "ENSP00000240851.4",
"transcript_support_level": 1,
"aa_start": 315,
"aa_end": null,
"aa_length": 400,
"cds_start": 945,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1216,
"cdna_end": null,
"cdna_length": 1907,
"mane_select": "NM_006070.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000240851.9"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.933G>A",
"hgvs_p": "p.Pro311Pro",
"transcript": "ENST00000476228.5",
"protein_id": "ENSP00000417952.1",
"transcript_support_level": 1,
"aa_start": 311,
"aa_end": null,
"aa_length": 396,
"cds_start": 933,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1092,
"cdna_end": null,
"cdna_length": 1783,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000476228.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.*131G>A",
"hgvs_p": null,
"transcript": "ENST00000615993.2",
"protein_id": "ENSP00000479269.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 280,
"cds_start": null,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1759,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615993.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.941G>A",
"hgvs_p": "p.Arg314His",
"transcript": "ENST00000675246.1",
"protein_id": "ENSP00000501620.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 369,
"cds_start": 941,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1277,
"cdna_end": null,
"cdna_length": 1968,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675246.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.981G>A",
"hgvs_p": "p.Pro327Pro",
"transcript": "ENST00000675692.1",
"protein_id": "ENSP00000502034.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 412,
"cds_start": 981,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1317,
"cdna_end": null,
"cdna_length": 2008,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675692.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.978G>A",
"hgvs_p": "p.Pro326Pro",
"transcript": "ENST00000873440.1",
"protein_id": "ENSP00000543499.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 411,
"cds_start": 978,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 1198,
"cdna_end": null,
"cdna_length": 1888,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873440.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.972G>A",
"hgvs_p": "p.Pro324Pro",
"transcript": "ENST00000873441.1",
"protein_id": "ENSP00000543500.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 409,
"cds_start": 972,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 1149,
"cdna_end": null,
"cdna_length": 1839,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873441.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.945G>A",
"hgvs_p": "p.Pro315Pro",
"transcript": "NM_001007565.2",
"protein_id": "NP_001007566.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 400,
"cds_start": 945,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1130,
"cdna_end": null,
"cdna_length": 1824,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001007565.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.945G>A",
"hgvs_p": "p.Pro315Pro",
"transcript": "NM_001195478.2",
"protein_id": "NP_001182407.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 400,
"cds_start": 945,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1083,
"cdna_end": null,
"cdna_length": 1774,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195478.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.945G>A",
"hgvs_p": "p.Pro315Pro",
"transcript": "ENST00000487505.6",
"protein_id": "ENSP00000420797.2",
"transcript_support_level": 3,
"aa_start": 315,
"aa_end": null,
"aa_length": 400,
"cds_start": 945,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1314,
"cdna_end": null,
"cdna_length": 2005,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000487505.6"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.945G>A",
"hgvs_p": "p.Pro315Pro",
"transcript": "ENST00000490574.6",
"protein_id": "ENSP00000419960.1",
"transcript_support_level": 3,
"aa_start": 315,
"aa_end": null,
"aa_length": 400,
"cds_start": 945,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1125,
"cdna_end": null,
"cdna_length": 1816,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000490574.6"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.945G>A",
"hgvs_p": "p.Pro315Pro",
"transcript": "ENST00000674615.1",
"protein_id": "ENSP00000502734.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 400,
"cds_start": 945,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1346,
"cdna_end": null,
"cdna_length": 2037,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674615.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.945G>A",
"hgvs_p": "p.Pro315Pro",
"transcript": "ENST00000675243.1",
"protein_id": "ENSP00000502592.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 400,
"cds_start": 945,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1163,
"cdna_end": null,
"cdna_length": 1854,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675243.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.945G>A",
"hgvs_p": "p.Pro315Pro",
"transcript": "ENST00000675499.1",
"protein_id": "ENSP00000502450.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 400,
"cds_start": 945,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1114,
"cdna_end": null,
"cdna_length": 1805,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675499.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.945G>A",
"hgvs_p": "p.Pro315Pro",
"transcript": "ENST00000675553.1",
"protein_id": "ENSP00000501815.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 400,
"cds_start": 945,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1215,
"cdna_end": null,
"cdna_length": 1906,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675553.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.945G>A",
"hgvs_p": "p.Pro315Pro",
"transcript": "ENST00000676395.1",
"protein_id": "ENSP00000502071.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 400,
"cds_start": 945,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1197,
"cdna_end": null,
"cdna_length": 1888,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676395.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.945G>A",
"hgvs_p": "p.Pro315Pro",
"transcript": "ENST00000873442.1",
"protein_id": "ENSP00000543501.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 400,
"cds_start": 945,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 2047,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873442.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.945G>A",
"hgvs_p": "p.Pro315Pro",
"transcript": "ENST00000917751.1",
"protein_id": "ENSP00000587810.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 400,
"cds_start": 945,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 1875,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917751.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.945G>A",
"hgvs_p": "p.Pro315Pro",
"transcript": "ENST00000917752.1",
"protein_id": "ENSP00000587811.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 400,
"cds_start": 945,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1539,
"cdna_end": null,
"cdna_length": 2229,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917752.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.945G>A",
"hgvs_p": "p.Pro315Pro",
"transcript": "ENST00000917753.1",
"protein_id": "ENSP00000587812.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 400,
"cds_start": 945,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1320,
"cdna_end": null,
"cdna_length": 2011,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917753.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.945G>A",
"hgvs_p": "p.Pro315Pro",
"transcript": "ENST00000917757.1",
"protein_id": "ENSP00000587816.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 400,
"cds_start": 945,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1196,
"cdna_end": null,
"cdna_length": 1887,
"mane_select": null,
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{
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],
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"dbsnp": "rs61736338",
"frequency_reference_population": 0.0025161277,
"hom_count_reference_population": 94,
"allele_count_reference_population": 4061,
"gnomad_exomes_af": 0.00136267,
"gnomad_genomes_af": 0.0135981,
"gnomad_exomes_ac": 1992,
"gnomad_genomes_ac": 2069,
"gnomad_exomes_homalt": 55,
"gnomad_genomes_homalt": 39,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.023000000044703484,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.023,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.78,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.525,
"phylop100way_prediction": "Benign",
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_006070.6",
"gene_symbol": "TFG",
"hgnc_id": 11758,
"effects": [
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],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.945G>A",
"hgvs_p": "p.Pro315Pro"
}
],
"clinvar_disease": " Okinawa type,Hereditary motor and sensory neuropathy,Hereditary spastic paraplegia 57,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "not specified|Hereditary motor and sensory neuropathy, Okinawa type;Hereditary spastic paraplegia 57|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}