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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: 1-61406720-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=61406720&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 61406720,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000403491.8",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1413G>T",
"hgvs_p": "p.Thr471Thr",
"transcript": "NM_001134673.4",
"protein_id": "NP_001128145.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 509,
"cds_start": 1413,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1644,
"cdna_end": null,
"cdna_length": 9229,
"mane_select": "ENST00000403491.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1413G>T",
"hgvs_p": "p.Thr471Thr",
"transcript": "ENST00000403491.8",
"protein_id": "ENSP00000384523.3",
"transcript_support_level": 1,
"aa_start": 471,
"aa_end": null,
"aa_length": 509,
"cds_start": 1413,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1644,
"cdna_end": null,
"cdna_length": 9229,
"mane_select": "NM_001134673.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1413G>T",
"hgvs_p": "p.Thr471Thr",
"transcript": "ENST00000371187.7",
"protein_id": "ENSP00000360229.3",
"transcript_support_level": 1,
"aa_start": 471,
"aa_end": null,
"aa_length": 498,
"cds_start": 1413,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 1584,
"cdna_end": null,
"cdna_length": 2683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.48G>T",
"hgvs_p": "p.Thr16Thr",
"transcript": "ENST00000493627.1",
"protein_id": "ENSP00000474817.1",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 46,
"cds_start": 48,
"cds_end": null,
"cds_length": 141,
"cdna_start": 49,
"cdna_end": null,
"cdna_length": 696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1548G>T",
"hgvs_p": "p.Thr516Thr",
"transcript": "NM_001145512.2",
"protein_id": "NP_001138984.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 554,
"cds_start": 1548,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 1753,
"cdna_end": null,
"cdna_length": 9338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1548G>T",
"hgvs_p": "p.Thr516Thr",
"transcript": "ENST00000371189.8",
"protein_id": "ENSP00000360231.3",
"transcript_support_level": 2,
"aa_start": 516,
"aa_end": null,
"aa_length": 554,
"cds_start": 1548,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 1630,
"cdna_end": null,
"cdna_length": 1989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1536G>T",
"hgvs_p": "p.Thr512Thr",
"transcript": "ENST00000699987.1",
"protein_id": "ENSP00000514740.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 550,
"cds_start": 1536,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1907,
"cdna_end": null,
"cdna_length": 3047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1482G>T",
"hgvs_p": "p.Thr494Thr",
"transcript": "ENST00000371191.5",
"protein_id": "ENSP00000360233.1",
"transcript_support_level": 5,
"aa_start": 494,
"aa_end": null,
"aa_length": 532,
"cds_start": 1482,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1594,
"cdna_end": null,
"cdna_length": 1916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1452G>T",
"hgvs_p": "p.Thr484Thr",
"transcript": "ENST00000482020.2",
"protein_id": "ENSP00000474806.2",
"transcript_support_level": 3,
"aa_start": 484,
"aa_end": null,
"aa_length": 511,
"cds_start": 1452,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1552,
"cdna_end": null,
"cdna_length": 2513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1413G>T",
"hgvs_p": "p.Thr471Thr",
"transcript": "ENST00000699965.1",
"protein_id": "ENSP00000514721.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 510,
"cds_start": 1413,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 1807,
"cdna_end": null,
"cdna_length": 4396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1413G>T",
"hgvs_p": "p.Thr471Thr",
"transcript": "ENST00000664149.1",
"protein_id": "ENSP00000499651.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 508,
"cds_start": 1413,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1807,
"cdna_end": null,
"cdna_length": 3401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1389G>T",
"hgvs_p": "p.Thr463Thr",
"transcript": "NM_001145511.2",
"protein_id": "NP_001138983.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 501,
"cds_start": 1389,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1788,
"cdna_end": null,
"cdna_length": 9373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1389G>T",
"hgvs_p": "p.Thr463Thr",
"transcript": "ENST00000407417.7",
"protein_id": "ENSP00000384680.2",
"transcript_support_level": 2,
"aa_start": 463,
"aa_end": null,
"aa_length": 501,
"cds_start": 1389,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1741,
"cdna_end": null,
"cdna_length": 2123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1413G>T",
"hgvs_p": "p.Thr471Thr",
"transcript": "NM_005595.5",
"protein_id": "NP_005586.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 498,
"cds_start": 1413,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 1644,
"cdna_end": null,
"cdna_length": 9137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1389G>T",
"hgvs_p": "p.Thr463Thr",
"transcript": "ENST00000699964.1",
"protein_id": "ENSP00000514720.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 490,
"cds_start": 1389,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1629,
"cdna_end": null,
"cdna_length": 2617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1347G>T",
"hgvs_p": "p.Thr449Thr",
"transcript": "ENST00000371185.6",
"protein_id": "ENSP00000360227.1",
"transcript_support_level": 5,
"aa_start": 449,
"aa_end": null,
"aa_length": 487,
"cds_start": 1347,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1391,
"cdna_end": null,
"cdna_length": 1714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1347G>T",
"hgvs_p": "p.Thr449Thr",
"transcript": "ENST00000699986.1",
"protein_id": "ENSP00000514739.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 487,
"cds_start": 1347,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1436,
"cdna_end": null,
"cdna_length": 2545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1284G>T",
"hgvs_p": "p.Thr428Thr",
"transcript": "ENST00000485903.6",
"protein_id": "ENSP00000419785.2",
"transcript_support_level": 5,
"aa_start": 428,
"aa_end": null,
"aa_length": 466,
"cds_start": 1284,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 1353,
"cdna_end": null,
"cdna_length": 1674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1167G>T",
"hgvs_p": "p.Thr389Thr",
"transcript": "ENST00000699967.1",
"protein_id": "ENSP00000514723.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 416,
"cds_start": 1167,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1498,
"cdna_end": null,
"cdna_length": 2198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1026G>T",
"hgvs_p": "p.Thr342Thr",
"transcript": "ENST00000371184.6",
"protein_id": "ENSP00000360226.1",
"transcript_support_level": 5,
"aa_start": 342,
"aa_end": null,
"aa_length": 380,
"cds_start": 1026,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 1064,
"cdna_end": null,
"cdna_length": 1348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.888G>T",
"hgvs_p": "p.Thr296Thr",
"transcript": "ENST00000699968.1",
"protein_id": "ENSP00000514724.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 334,
"cds_start": 888,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 2062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.645G>T",
"hgvs_p": "p.Thr215Thr",
"transcript": "ENST00000657234.1",
"protein_id": "ENSP00000499693.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 253,
"cds_start": 645,
"cds_end": null,
"cds_length": 762,
"cdna_start": 1188,
"cdna_end": null,
"cdna_length": 3861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.645G>T",
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}
],
"gene_symbol": "NFIA",
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"dbsnp": "rs146012018",
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"computational_score_selected": -0.4000000059604645,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.924,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"mitotip_prediction": null,
"acmg_score": -9,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -9,
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"pathogenic_score": 0,
"criteria": [
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"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000403491.8",
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],
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}