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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: 2-159248378-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=159248378&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 159248378,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_152528.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDSUB1",
"gene_hgnc_id": 26697,
"hgvs_c": "c.1267G>A",
"hgvs_p": "p.Ala423Thr",
"transcript": "NM_001128212.3",
"protein_id": "NP_001121684.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 476,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000359774.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128212.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDSUB1",
"gene_hgnc_id": 26697,
"hgvs_c": "c.1267G>A",
"hgvs_p": "p.Ala423Thr",
"transcript": "ENST00000359774.9",
"protein_id": "ENSP00000352820.4",
"transcript_support_level": 5,
"aa_start": 423,
"aa_end": null,
"aa_length": 476,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001128212.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359774.9"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDSUB1",
"gene_hgnc_id": 26697,
"hgvs_c": "c.991G>A",
"hgvs_p": "p.Ala331Thr",
"transcript": "ENST00000358147.8",
"protein_id": "ENSP00000350866.4",
"transcript_support_level": 1,
"aa_start": 331,
"aa_end": null,
"aa_length": 384,
"cds_start": 991,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358147.8"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDSUB1",
"gene_hgnc_id": 26697,
"hgvs_c": "c.1267G>A",
"hgvs_p": "p.Ala423Thr",
"transcript": "ENST00000851154.1",
"protein_id": "ENSP00000521213.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 491,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851154.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDSUB1",
"gene_hgnc_id": 26697,
"hgvs_c": "c.1267G>A",
"hgvs_p": "p.Ala423Thr",
"transcript": "ENST00000851158.1",
"protein_id": "ENSP00000521217.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 491,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851158.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDSUB1",
"gene_hgnc_id": 26697,
"hgvs_c": "c.1267G>A",
"hgvs_p": "p.Ala423Thr",
"transcript": "ENST00000969547.1",
"protein_id": "ENSP00000639606.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 491,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969547.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDSUB1",
"gene_hgnc_id": 26697,
"hgvs_c": "c.1267G>A",
"hgvs_p": "p.Ala423Thr",
"transcript": "NM_001128213.2",
"protein_id": "NP_001121685.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 476,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128213.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDSUB1",
"gene_hgnc_id": 26697,
"hgvs_c": "c.1267G>A",
"hgvs_p": "p.Ala423Thr",
"transcript": "NM_001330278.2",
"protein_id": "NP_001317207.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 476,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330278.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDSUB1",
"gene_hgnc_id": 26697,
"hgvs_c": "c.1267G>A",
"hgvs_p": "p.Ala423Thr",
"transcript": "NM_152528.3",
"protein_id": "NP_689741.2",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 476,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152528.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDSUB1",
"gene_hgnc_id": 26697,
"hgvs_c": "c.1267G>A",
"hgvs_p": "p.Ala423Thr",
"transcript": "ENST00000392796.7",
"protein_id": "ENSP00000376545.3",
"transcript_support_level": 2,
"aa_start": 423,
"aa_end": null,
"aa_length": 476,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392796.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDSUB1",
"gene_hgnc_id": 26697,
"hgvs_c": "c.1267G>A",
"hgvs_p": "p.Ala423Thr",
"transcript": "ENST00000409990.7",
"protein_id": "ENSP00000387078.3",
"transcript_support_level": 2,
"aa_start": 423,
"aa_end": null,
"aa_length": 476,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409990.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDSUB1",
"gene_hgnc_id": 26697,
"hgvs_c": "c.1267G>A",
"hgvs_p": "p.Ala423Thr",
"transcript": "ENST00000851151.1",
"protein_id": "ENSP00000521210.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 476,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851151.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDSUB1",
"gene_hgnc_id": 26697,
"hgvs_c": "c.1267G>A",
"hgvs_p": "p.Ala423Thr",
"transcript": "ENST00000851156.1",
"protein_id": "ENSP00000521215.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 476,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851156.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDSUB1",
"gene_hgnc_id": 26697,
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"transcript": "ENST00000969541.1",
"protein_id": "ENSP00000639600.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 473,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969541.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDSUB1",
"gene_hgnc_id": 26697,
"hgvs_c": "c.1192G>A",
"hgvs_p": "p.Ala398Thr",
"transcript": "ENST00000851153.1",
"protein_id": "ENSP00000521212.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 451,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851153.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDSUB1",
"gene_hgnc_id": 26697,
"hgvs_c": "c.1192G>A",
"hgvs_p": "p.Ala398Thr",
"transcript": "ENST00000969543.1",
"protein_id": "ENSP00000639602.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 451,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969543.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDSUB1",
"gene_hgnc_id": 26697,
"hgvs_c": "c.1174G>A",
"hgvs_p": "p.Ala392Thr",
"transcript": "ENST00000969542.1",
"protein_id": "ENSP00000639601.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 445,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969542.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDSUB1",
"gene_hgnc_id": 26697,
"hgvs_c": "c.1168G>A",
"hgvs_p": "p.Ala390Thr",
"transcript": "ENST00000851157.1",
"protein_id": "ENSP00000521216.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 443,
"cds_start": 1168,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851157.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDSUB1",
"gene_hgnc_id": 26697,
"hgvs_c": "c.1081G>A",
"hgvs_p": "p.Ala361Thr",
"transcript": "ENST00000936441.1",
"protein_id": "ENSP00000606500.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 414,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936441.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDSUB1",
"gene_hgnc_id": 26697,
"hgvs_c": "c.991G>A",
"hgvs_p": "p.Ala331Thr",
"transcript": "ENST00000969538.1",
"protein_id": "ENSP00000639597.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 399,
"cds_start": 991,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969538.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDSUB1",
"gene_hgnc_id": 26697,
"hgvs_c": "c.1006G>A",
"hgvs_p": "p.Ala336Thr",
"transcript": "NM_001330277.2",
"protein_id": "NP_001317206.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 389,
"cds_start": 1006,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330277.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDSUB1",
"gene_hgnc_id": 26697,
"hgvs_c": "c.991G>A",
"hgvs_p": "p.Ala331Thr",
"transcript": "NM_001307994.2",
"protein_id": "NP_001294923.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 384,
"cds_start": 991,
"cds_end": null,
"cds_length": 1155,
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"computational_prediction_selected": "Uncertain_significance",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.52,
"phylop100way_prediction": "Uncertain_significance",
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
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"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_152528.3",
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"effects": [
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}