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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: 7-129671445-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=129671445&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 129671445,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001293163.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"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": "NRF1",
"gene_hgnc_id": 7996,
"hgvs_c": "c.240C>T",
"hgvs_p": "p.Ala80Ala",
"transcript": "NM_005011.5",
"protein_id": "NP_005002.3",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 503,
"cds_start": 240,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000393232.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005011.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"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": "NRF1",
"gene_hgnc_id": 7996,
"hgvs_c": "c.240C>T",
"hgvs_p": "p.Ala80Ala",
"transcript": "ENST00000393232.6",
"protein_id": "ENSP00000376924.1",
"transcript_support_level": 1,
"aa_start": 80,
"aa_end": null,
"aa_length": 503,
"cds_start": 240,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005011.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393232.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRF1",
"gene_hgnc_id": 7996,
"hgvs_c": "c.240C>T",
"hgvs_p": "p.Ala80Ala",
"transcript": "ENST00000311967.6",
"protein_id": "ENSP00000309826.2",
"transcript_support_level": 1,
"aa_start": 80,
"aa_end": null,
"aa_length": 522,
"cds_start": 240,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311967.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"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": "NRF1",
"gene_hgnc_id": 7996,
"hgvs_c": "c.240C>T",
"hgvs_p": "p.Ala80Ala",
"transcript": "ENST00000393230.6",
"protein_id": "ENSP00000376922.2",
"transcript_support_level": 1,
"aa_start": 80,
"aa_end": null,
"aa_length": 503,
"cds_start": 240,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393230.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRF1",
"gene_hgnc_id": 7996,
"hgvs_c": "c.240C>T",
"hgvs_p": "p.Ala80Ala",
"transcript": "NM_001293163.2",
"protein_id": "NP_001280092.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 522,
"cds_start": 240,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293163.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRF1",
"gene_hgnc_id": 7996,
"hgvs_c": "c.240C>T",
"hgvs_p": "p.Ala80Ala",
"transcript": "ENST00000353868.5",
"protein_id": "ENSP00000342351.5",
"transcript_support_level": 5,
"aa_start": 80,
"aa_end": null,
"aa_length": 522,
"cds_start": 240,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353868.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRF1",
"gene_hgnc_id": 7996,
"hgvs_c": "c.240C>T",
"hgvs_p": "p.Ala80Ala",
"transcript": "ENST00000928009.1",
"protein_id": "ENSP00000598068.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 522,
"cds_start": 240,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928009.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"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": "NRF1",
"gene_hgnc_id": 7996,
"hgvs_c": "c.240C>T",
"hgvs_p": "p.Ala80Ala",
"transcript": "ENST00000928018.1",
"protein_id": "ENSP00000598077.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 511,
"cds_start": 240,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928018.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"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": "NRF1",
"gene_hgnc_id": 7996,
"hgvs_c": "c.240C>T",
"hgvs_p": "p.Ala80Ala",
"transcript": "ENST00000928011.1",
"protein_id": "ENSP00000598070.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 504,
"cds_start": 240,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928011.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"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": "NRF1",
"gene_hgnc_id": 7996,
"hgvs_c": "c.240C>T",
"hgvs_p": "p.Ala80Ala",
"transcript": "ENST00000928013.1",
"protein_id": "ENSP00000598072.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 504,
"cds_start": 240,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928013.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRF1",
"gene_hgnc_id": 7996,
"hgvs_c": "c.240C>T",
"hgvs_p": "p.Ala80Ala",
"transcript": "ENST00000962505.1",
"protein_id": "ENSP00000632564.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 504,
"cds_start": 240,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962505.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"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": "NRF1",
"gene_hgnc_id": 7996,
"hgvs_c": "c.240C>T",
"hgvs_p": "p.Ala80Ala",
"transcript": "NM_001040110.2",
"protein_id": "NP_001035199.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 503,
"cds_start": 240,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040110.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"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": "NRF1",
"gene_hgnc_id": 7996,
"hgvs_c": "c.240C>T",
"hgvs_p": "p.Ala80Ala",
"transcript": "ENST00000223190.8",
"protein_id": "ENSP00000223190.4",
"transcript_support_level": 5,
"aa_start": 80,
"aa_end": null,
"aa_length": 503,
"cds_start": 240,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000223190.8"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRF1",
"gene_hgnc_id": 7996,
"hgvs_c": "c.240C>T",
"hgvs_p": "p.Ala80Ala",
"transcript": "ENST00000928007.1",
"protein_id": "ENSP00000598066.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 503,
"cds_start": 240,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928007.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRF1",
"gene_hgnc_id": 7996,
"hgvs_c": "c.240C>T",
"hgvs_p": "p.Ala80Ala",
"transcript": "ENST00000928010.1",
"protein_id": "ENSP00000598069.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 503,
"cds_start": 240,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928010.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRF1",
"gene_hgnc_id": 7996,
"hgvs_c": "c.240C>T",
"hgvs_p": "p.Ala80Ala",
"transcript": "ENST00000928012.1",
"protein_id": "ENSP00000598071.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 503,
"cds_start": 240,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928012.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRF1",
"gene_hgnc_id": 7996,
"hgvs_c": "c.240C>T",
"hgvs_p": "p.Ala80Ala",
"transcript": "ENST00000962504.1",
"protein_id": "ENSP00000632563.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 503,
"cds_start": 240,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962504.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"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": "NRF1",
"gene_hgnc_id": 7996,
"hgvs_c": "c.240C>T",
"hgvs_p": "p.Ala80Ala",
"transcript": "ENST00000962507.1",
"protein_id": "ENSP00000632566.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 503,
"cds_start": 240,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962507.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"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": "NRF1",
"gene_hgnc_id": 7996,
"hgvs_c": "c.240C>T",
"hgvs_p": "p.Ala80Ala",
"transcript": "ENST00000962508.1",
"protein_id": "ENSP00000632567.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 503,
"cds_start": 240,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962508.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRF1",
"gene_hgnc_id": 7996,
"hgvs_c": "c.240C>T",
"hgvs_p": "p.Ala80Ala",
"transcript": "ENST00000962511.1",
"protein_id": "ENSP00000632570.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 503,
"cds_start": 240,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962511.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRF1",
"gene_hgnc_id": 7996,
"hgvs_c": "c.240C>T",
"hgvs_p": "p.Ala80Ala",
"transcript": "ENST00000962512.1",
"protein_id": "ENSP00000632571.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 503,
"cds_start": 240,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962512.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRF1",
"gene_hgnc_id": 7996,
"hgvs_c": "c.240C>T",
"hgvs_p": "p.Ala80Ala",
"transcript": "ENST00000962513.1",
"protein_id": "ENSP00000632572.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 503,
"cds_start": 240,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962513.1"
},
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"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
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}
],
"message": null
}