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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: 1-109751343-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=109751343&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 109751343,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_139053.3",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1572G>A",
"hgvs_p": "p.Met524Ile",
"transcript": "NM_133181.4",
"protein_id": "NP_573444.2",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 593,
"cds_start": 1572,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361965.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133181.4"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1572G>A",
"hgvs_p": "p.Met524Ile",
"transcript": "ENST00000361965.9",
"protein_id": "ENSP00000355255.4",
"transcript_support_level": 1,
"aa_start": 524,
"aa_end": null,
"aa_length": 593,
"cds_start": 1572,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_133181.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361965.9"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1575G>A",
"hgvs_p": "p.Met525Ile",
"transcript": "ENST00000369805.7",
"protein_id": "ENSP00000358820.3",
"transcript_support_level": 1,
"aa_start": 525,
"aa_end": null,
"aa_length": 594,
"cds_start": 1575,
"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": "ENST00000369805.7"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1482G>A",
"hgvs_p": "p.Met494Ile",
"transcript": "ENST00000361852.8",
"protein_id": "ENSP00000354551.4",
"transcript_support_level": 1,
"aa_start": 494,
"aa_end": null,
"aa_length": 563,
"cds_start": 1482,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361852.8"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1818G>A",
"hgvs_p": "p.Met606Ile",
"transcript": "ENST00000888981.1",
"protein_id": "ENSP00000559040.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 675,
"cds_start": 1818,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888981.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1815G>A",
"hgvs_p": "p.Met605Ile",
"transcript": "ENST00000888977.1",
"protein_id": "ENSP00000559036.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 674,
"cds_start": 1815,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888977.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1812G>A",
"hgvs_p": "p.Met604Ile",
"transcript": "ENST00000888985.1",
"protein_id": "ENSP00000559044.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 673,
"cds_start": 1812,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888985.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1728G>A",
"hgvs_p": "p.Met576Ile",
"transcript": "ENST00000888976.1",
"protein_id": "ENSP00000559035.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 645,
"cds_start": 1728,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888976.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1725G>A",
"hgvs_p": "p.Met575Ile",
"transcript": "ENST00000888982.1",
"protein_id": "ENSP00000559041.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 644,
"cds_start": 1725,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888982.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1599G>A",
"hgvs_p": "p.Met533Ile",
"transcript": "ENST00000888983.1",
"protein_id": "ENSP00000559042.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 602,
"cds_start": 1599,
"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": "ENST00000888983.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1596G>A",
"hgvs_p": "p.Met532Ile",
"transcript": "ENST00000888978.1",
"protein_id": "ENSP00000559037.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 601,
"cds_start": 1596,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888978.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1575G>A",
"hgvs_p": "p.Met525Ile",
"transcript": "NM_139053.3",
"protein_id": "NP_620641.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 594,
"cds_start": 1575,
"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": "NM_139053.3"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1572G>A",
"hgvs_p": "p.Met524Ile",
"transcript": "ENST00000888980.1",
"protein_id": "ENSP00000559039.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 593,
"cds_start": 1572,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888980.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1569G>A",
"hgvs_p": "p.Met523Ile",
"transcript": "ENST00000888974.1",
"protein_id": "ENSP00000559033.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 592,
"cds_start": 1569,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888974.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1530G>A",
"hgvs_p": "p.Met510Ile",
"transcript": "ENST00000888975.1",
"protein_id": "ENSP00000559034.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 579,
"cds_start": 1530,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888975.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1485G>A",
"hgvs_p": "p.Met495Ile",
"transcript": "ENST00000888973.1",
"protein_id": "ENSP00000559032.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 564,
"cds_start": 1485,
"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": "ENST00000888973.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1482G>A",
"hgvs_p": "p.Met494Ile",
"transcript": "NM_024526.4",
"protein_id": "NP_078802.2",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 563,
"cds_start": 1482,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024526.4"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1479G>A",
"hgvs_p": "p.Met493Ile",
"transcript": "ENST00000888979.1",
"protein_id": "ENSP00000559038.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 562,
"cds_start": 1479,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888979.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1476G>A",
"hgvs_p": "p.Met492Ile",
"transcript": "ENST00000952212.1",
"protein_id": "ENSP00000622271.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 561,
"cds_start": 1476,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952212.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1458G>A",
"hgvs_p": "p.Met486Ile",
"transcript": "ENST00000952210.1",
"protein_id": "ENSP00000622269.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 555,
"cds_start": 1458,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952210.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1383G>A",
"hgvs_p": "p.Met461Ile",
"transcript": "NM_001319952.2",
"protein_id": "NP_001306881.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 530,
"cds_start": 1383,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319952.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1341G>A",
"hgvs_p": "p.Met447Ile",
"transcript": "ENST00000888984.1",
"protein_id": "ENSP00000559043.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 516,
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"transcript": "ENST00000431955.1",
"gene_symbol": "ENSG00000241720",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.627+14202C>T",
"hgvs_p": null
}
],
"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
}