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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: 10-112951574-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=112951574&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 112951574,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001367943.1",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7L2",
"gene_hgnc_id": 11641,
"hgvs_c": "c.348C>T",
"hgvs_p": "p.Leu116Leu",
"transcript": "NM_001367943.1",
"protein_id": "NP_001354872.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 619,
"cds_start": 348,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355995.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367943.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7L2",
"gene_hgnc_id": 11641,
"hgvs_c": "c.348C>T",
"hgvs_p": "p.Leu116Leu",
"transcript": "ENST00000355995.9",
"protein_id": "ENSP00000348274.4",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 619,
"cds_start": 348,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001367943.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355995.9"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7L2",
"gene_hgnc_id": 11641,
"hgvs_c": "c.348C>T",
"hgvs_p": "p.Leu116Leu",
"transcript": "ENST00000627217.3",
"protein_id": "ENSP00000486891.1",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 602,
"cds_start": 348,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000627217.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7L2",
"gene_hgnc_id": 11641,
"hgvs_c": "c.348C>T",
"hgvs_p": "p.Leu116Leu",
"transcript": "ENST00000369397.8",
"protein_id": "ENSP00000358404.4",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 596,
"cds_start": 348,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369397.8"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7L2",
"gene_hgnc_id": 11641,
"hgvs_c": "c.348C>T",
"hgvs_p": "p.Leu116Leu",
"transcript": "ENST00000629706.2",
"protein_id": "ENSP00000487507.1",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 584,
"cds_start": 348,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000629706.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7L2",
"gene_hgnc_id": 11641,
"hgvs_c": "c.348C>T",
"hgvs_p": "p.Leu116Leu",
"transcript": "ENST00000355717.9",
"protein_id": "ENSP00000347949.4",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 489,
"cds_start": 348,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355717.9"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7L2",
"gene_hgnc_id": 11641,
"hgvs_c": "c.348C>T",
"hgvs_p": "p.Leu116Leu",
"transcript": "ENST00000538897.5",
"protein_id": "ENSP00000446172.1",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 482,
"cds_start": 348,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538897.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7L2",
"gene_hgnc_id": 11641,
"hgvs_c": "c.348C>T",
"hgvs_p": "p.Leu116Leu",
"transcript": "ENST00000545257.6",
"protein_id": "ENSP00000440547.2",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 476,
"cds_start": 348,
"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": "ENST00000545257.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7L2",
"gene_hgnc_id": 11641,
"hgvs_c": "c.348C>T",
"hgvs_p": "p.Leu116Leu",
"transcript": "ENST00000352065.10",
"protein_id": "ENSP00000344823.5",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 459,
"cds_start": 348,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352065.10"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7L2",
"gene_hgnc_id": 11641,
"hgvs_c": "c.348C>T",
"hgvs_p": "p.Leu116Leu",
"transcript": "ENST00000369395.6",
"protein_id": "ENSP00000358402.2",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 455,
"cds_start": 348,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369395.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7L2",
"gene_hgnc_id": 11641,
"hgvs_c": "c.348C>T",
"hgvs_p": "p.Leu116Leu",
"transcript": "ENST00000534894.5",
"protein_id": "ENSP00000443626.2",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 408,
"cds_start": 348,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534894.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7L2",
"gene_hgnc_id": 11641,
"hgvs_c": "c.348C>T",
"hgvs_p": "p.Leu116Leu",
"transcript": "ENST00000867576.1",
"protein_id": "ENSP00000537635.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 655,
"cds_start": 348,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867576.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7L2",
"gene_hgnc_id": 11641,
"hgvs_c": "c.348C>T",
"hgvs_p": "p.Leu116Leu",
"transcript": "ENST00000867568.1",
"protein_id": "ENSP00000537627.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 650,
"cds_start": 348,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867568.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7L2",
"gene_hgnc_id": 11641,
"hgvs_c": "c.348C>T",
"hgvs_p": "p.Leu116Leu",
"transcript": "ENST00000928216.1",
"protein_id": "ENSP00000598275.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 650,
"cds_start": 348,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928216.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7L2",
"gene_hgnc_id": 11641,
"hgvs_c": "c.348C>T",
"hgvs_p": "p.Leu116Leu",
"transcript": "ENST00000928214.1",
"protein_id": "ENSP00000598273.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 643,
"cds_start": 348,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928214.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7L2",
"gene_hgnc_id": 11641,
"hgvs_c": "c.348C>T",
"hgvs_p": "p.Leu116Leu",
"transcript": "ENST00000928218.1",
"protein_id": "ENSP00000598277.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 632,
"cds_start": 348,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928218.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7L2",
"gene_hgnc_id": 11641,
"hgvs_c": "c.348C>T",
"hgvs_p": "p.Leu116Leu",
"transcript": "ENST00000928217.1",
"protein_id": "ENSP00000598276.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 631,
"cds_start": 348,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928217.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7L2",
"gene_hgnc_id": 11641,
"hgvs_c": "c.348C>T",
"hgvs_p": "p.Leu116Leu",
"transcript": "ENST00000949140.1",
"protein_id": "ENSP00000619199.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 631,
"cds_start": 348,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949140.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7L2",
"gene_hgnc_id": 11641,
"hgvs_c": "c.348C>T",
"hgvs_p": "p.Leu116Leu",
"transcript": "ENST00000867581.1",
"protein_id": "ENSP00000537640.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 627,
"cds_start": 348,
"cds_end": null,
"cds_length": 1884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867581.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7L2",
"gene_hgnc_id": 11641,
"hgvs_c": "c.348C>T",
"hgvs_p": "p.Leu116Leu",
"transcript": "ENST00000867582.1",
"protein_id": "ENSP00000537641.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 627,
"cds_start": 348,
"cds_end": null,
"cds_length": 1884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867582.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7L2",
"gene_hgnc_id": 11641,
"hgvs_c": "c.348C>T",
"hgvs_p": "p.Leu116Leu",
"transcript": "ENST00000867566.1",
"protein_id": "ENSP00000537625.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 626,
"cds_start": 348,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867566.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7L2",
"gene_hgnc_id": 11641,
"hgvs_c": "c.348C>T",
"hgvs_p": "p.Leu116Leu",
"transcript": "ENST00000867578.1",
"protein_id": "ENSP00000537637.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 626,
"cds_start": 348,
"cds_end": null,
"cds_length": 1881,
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"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001367943.1",
"gene_symbol": "TCF7L2",
"hgnc_id": 11641,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.348C>T",
"hgvs_p": "p.Leu116Leu"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000849774.1",
"gene_symbol": "ENSG00000233547",
"hgnc_id": null,
"effects": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.74G>A",
"hgvs_p": null
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "XR_007062291.1",
"gene_symbol": "LOC124902502",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.565+204G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}