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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: 1-92246558-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=92246558&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 92246558,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_053274.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1757C>T",
"hgvs_p": "p.Thr586Ile",
"transcript": "NM_053274.3",
"protein_id": "NP_444504.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 594,
"cds_start": 1757,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370360.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_053274.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1757C>T",
"hgvs_p": "p.Thr586Ile",
"transcript": "ENST00000370360.8",
"protein_id": "ENSP00000359385.3",
"transcript_support_level": 1,
"aa_start": 586,
"aa_end": null,
"aa_length": 594,
"cds_start": 1757,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_053274.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370360.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "n.*418C>T",
"hgvs_p": null,
"transcript": "ENST00000495106.5",
"protein_id": "ENSP00000436829.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000495106.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "n.*418C>T",
"hgvs_p": null,
"transcript": "ENST00000495106.5",
"protein_id": "ENSP00000436829.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000495106.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1823C>T",
"hgvs_p": "p.Thr608Ile",
"transcript": "ENST00000931421.1",
"protein_id": "ENSP00000601480.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 616,
"cds_start": 1823,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931421.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1793C>T",
"hgvs_p": "p.Thr598Ile",
"transcript": "ENST00000896612.1",
"protein_id": "ENSP00000566671.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 606,
"cds_start": 1793,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896612.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1757C>T",
"hgvs_p": "p.Thr586Ile",
"transcript": "ENST00000896609.1",
"protein_id": "ENSP00000566668.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 594,
"cds_start": 1757,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896609.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1715C>T",
"hgvs_p": "p.Thr572Ile",
"transcript": "NM_001319683.2",
"protein_id": "NP_001306612.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 580,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319683.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1667C>T",
"hgvs_p": "p.Thr556Ile",
"transcript": "ENST00000896610.1",
"protein_id": "ENSP00000566669.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 564,
"cds_start": 1667,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896610.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1637C>T",
"hgvs_p": "p.Thr546Ile",
"transcript": "ENST00000931417.1",
"protein_id": "ENSP00000601476.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 554,
"cds_start": 1637,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931417.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1631C>T",
"hgvs_p": "p.Thr544Ile",
"transcript": "ENST00000896611.1",
"protein_id": "ENSP00000566670.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 552,
"cds_start": 1631,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896611.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1625C>T",
"hgvs_p": "p.Thr542Ile",
"transcript": "ENST00000931420.1",
"protein_id": "ENSP00000601479.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 550,
"cds_start": 1625,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931420.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1562C>T",
"hgvs_p": "p.Thr521Ile",
"transcript": "ENST00000946567.1",
"protein_id": "ENSP00000616626.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 529,
"cds_start": 1562,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946567.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1187C>T",
"hgvs_p": "p.Thr396Ile",
"transcript": "ENST00000931415.1",
"protein_id": "ENSP00000601474.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 404,
"cds_start": 1187,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931415.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.824C>T",
"hgvs_p": "p.Thr275Ile",
"transcript": "ENST00000896608.1",
"protein_id": "ENSP00000566667.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 283,
"cds_start": 824,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896608.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.449C>T",
"hgvs_p": "p.Thr150Ile",
"transcript": "ENST00000931416.1",
"protein_id": "ENSP00000601475.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 158,
"cds_start": 449,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931416.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.323C>T",
"hgvs_p": "p.Thr108Ile",
"transcript": "ENST00000931419.1",
"protein_id": "ENSP00000601478.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 116,
"cds_start": 323,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931419.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.254C>T",
"hgvs_p": "p.Thr85Ile",
"transcript": "ENST00000931418.1",
"protein_id": "ENSP00000601477.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 93,
"cds_start": 254,
"cds_end": null,
"cds_length": 282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931418.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1856C>T",
"hgvs_p": "p.Thr619Ile",
"transcript": "XM_017000137.2",
"protein_id": "XP_016855626.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 627,
"cds_start": 1856,
"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": "XM_017000137.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1814C>T",
"hgvs_p": "p.Thr605Ile",
"transcript": "XM_017000138.2",
"protein_id": "XP_016855627.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 613,
"cds_start": 1814,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000138.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1757C>T",
"hgvs_p": "p.Thr586Ile",
"transcript": "XM_011540546.3",
"protein_id": "XP_011538848.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 594,
"cds_start": 1757,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540546.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1751C>T",
"hgvs_p": "p.Thr584Ile",
"transcript": "XM_017000139.2",
"protein_id": "XP_016855628.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 592,
"cds_start": 1751,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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}
],
"message": null
}