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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: 20-36197912-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=36197912&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 36197912,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000338074.7",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.1539G>A",
"hgvs_p": "p.Glu513Glu",
"transcript": "NM_012156.2",
"protein_id": "NP_036288.2",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 881,
"cds_start": 1539,
"cds_end": null,
"cds_length": 2646,
"cdna_start": 1710,
"cdna_end": null,
"cdna_length": 6276,
"mane_select": "ENST00000338074.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.1539G>A",
"hgvs_p": "p.Glu513Glu",
"transcript": "ENST00000338074.7",
"protein_id": "ENSP00000337168.2",
"transcript_support_level": 1,
"aa_start": 513,
"aa_end": null,
"aa_length": 881,
"cds_start": 1539,
"cds_end": null,
"cds_length": 2646,
"cdna_start": 1710,
"cdna_end": null,
"cdna_length": 6276,
"mane_select": "NM_012156.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.1539G>A",
"hgvs_p": "p.Glu513Glu",
"transcript": "ENST00000373946.7",
"protein_id": "ENSP00000363057.4",
"transcript_support_level": 1,
"aa_start": 513,
"aa_end": null,
"aa_length": 880,
"cds_start": 1539,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 1764,
"cdna_end": null,
"cdna_length": 6327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.1317G>A",
"hgvs_p": "p.Glu439Glu",
"transcript": "ENST00000202028.9",
"protein_id": "ENSP00000202028.5",
"transcript_support_level": 1,
"aa_start": 439,
"aa_end": null,
"aa_length": 779,
"cds_start": 1317,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 1490,
"cdna_end": null,
"cdna_length": 3514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.1539G>A",
"hgvs_p": "p.Glu513Glu",
"transcript": "ENST00000636016.2",
"protein_id": "ENSP00000489867.2",
"transcript_support_level": 2,
"aa_start": 513,
"aa_end": null,
"aa_length": 1595,
"cds_start": 1539,
"cds_end": null,
"cds_length": 4788,
"cdna_start": 1710,
"cdna_end": null,
"cdna_length": 8418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.1539G>A",
"hgvs_p": "p.Glu513Glu",
"transcript": "NM_001433605.1",
"protein_id": "NP_001420534.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 1538,
"cds_start": 1539,
"cds_end": null,
"cds_length": 4617,
"cdna_start": 1710,
"cdna_end": null,
"cdna_length": 8247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.1539G>A",
"hgvs_p": "p.Glu513Glu",
"transcript": "NM_001258329.1",
"protein_id": "NP_001245258.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 880,
"cds_start": 1539,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 1764,
"cdna_end": null,
"cdna_length": 6327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.1536G>A",
"hgvs_p": "p.Glu512Glu",
"transcript": "NM_001424402.1",
"protein_id": "NP_001411331.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 880,
"cds_start": 1536,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 1707,
"cdna_end": null,
"cdna_length": 6273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.1539G>A",
"hgvs_p": "p.Glu513Glu",
"transcript": "ENST00000373941.5",
"protein_id": "ENSP00000363052.1",
"transcript_support_level": 5,
"aa_start": 513,
"aa_end": null,
"aa_length": 880,
"cds_start": 1539,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 1548,
"cdna_end": null,
"cdna_length": 2652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.1503G>A",
"hgvs_p": "p.Glu501Glu",
"transcript": "NM_001424401.1",
"protein_id": "NP_001411330.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 869,
"cds_start": 1503,
"cds_end": null,
"cds_length": 2610,
"cdna_start": 1674,
"cdna_end": null,
"cdna_length": 6240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.1500G>A",
"hgvs_p": "p.Glu500Glu",
"transcript": "NM_001424399.1",
"protein_id": "NP_001411328.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 868,
"cds_start": 1500,
"cds_end": null,
"cds_length": 2607,
"cdna_start": 1671,
"cdna_end": null,
"cdna_length": 6237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.1503G>A",
"hgvs_p": "p.Glu501Glu",
"transcript": "NM_001424400.1",
"protein_id": "NP_001411329.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 868,
"cds_start": 1503,
"cds_end": null,
"cds_length": 2607,
"cdna_start": 1674,
"cdna_end": null,
"cdna_length": 6237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.1500G>A",
"hgvs_p": "p.Glu500Glu",
"transcript": "NM_001424398.1",
"protein_id": "NP_001411327.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 867,
"cds_start": 1500,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 1671,
"cdna_end": null,
"cdna_length": 6234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.1539G>A",
"hgvs_p": "p.Glu513Glu",
"transcript": "NM_001424397.1",
"protein_id": "NP_001411326.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 853,
"cds_start": 1539,
"cds_end": null,
"cds_length": 2562,
"cdna_start": 1710,
"cdna_end": null,
"cdna_length": 6192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.1503G>A",
"hgvs_p": "p.Glu501Glu",
"transcript": "NM_001424396.1",
"protein_id": "NP_001411325.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 841,
"cds_start": 1503,
"cds_end": null,
"cds_length": 2526,
"cdna_start": 1674,
"cdna_end": null,
"cdna_length": 6156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.1500G>A",
"hgvs_p": "p.Glu500Glu",
"transcript": "NM_001424395.1",
"protein_id": "NP_001411324.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 840,
"cds_start": 1500,
"cds_end": null,
"cds_length": 2523,
"cdna_start": 1671,
"cdna_end": null,
"cdna_length": 6153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.1317G>A",
"hgvs_p": "p.Glu439Glu",
"transcript": "NM_001424394.1",
"protein_id": "NP_001411323.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 807,
"cds_start": 1317,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 1483,
"cdna_end": null,
"cdna_length": 6049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.1317G>A",
"hgvs_p": "p.Glu439Glu",
"transcript": "NM_001424407.1",
"protein_id": "NP_001411336.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 807,
"cds_start": 1317,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 1485,
"cdna_end": null,
"cdna_length": 6051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.1314G>A",
"hgvs_p": "p.Glu438Glu",
"transcript": "NM_001424392.1",
"protein_id": "NP_001411321.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 806,
"cds_start": 1314,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 1480,
"cdna_end": null,
"cdna_length": 6046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.1317G>A",
"hgvs_p": "p.Glu439Glu",
"transcript": "NM_001424393.1",
"protein_id": "NP_001411322.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 806,
"cds_start": 1317,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 1483,
"cdna_end": null,
"cdna_length": 6046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.1317G>A",
"hgvs_p": "p.Glu439Glu",
"transcript": "NM_001424406.1",
"protein_id": "NP_001411335.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 806,
"cds_start": 1317,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 1485,
"cdna_end": null,
"cdna_length": 6048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.1314G>A",
"hgvs_p": "p.Glu438Glu",
"transcript": "NM_001424391.1",
"protein_id": "NP_001411320.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 805,
"cds_start": 1314,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 1480,
"cdna_end": null,
"cdna_length": 6043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
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{
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"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}