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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: 3-49123554-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49123554&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 49123554,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002292.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB2",
"gene_hgnc_id": 6487,
"hgvs_c": "c.3875A>T",
"hgvs_p": "p.Asn1292Ile",
"transcript": "NM_002292.4",
"protein_id": "NP_002283.3",
"transcript_support_level": null,
"aa_start": 1292,
"aa_end": null,
"aa_length": 1798,
"cds_start": 3875,
"cds_end": null,
"cds_length": 5397,
"cdna_start": 4058,
"cdna_end": null,
"cdna_length": 5692,
"mane_select": "ENST00000305544.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002292.4"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB2",
"gene_hgnc_id": 6487,
"hgvs_c": "c.3875A>T",
"hgvs_p": "p.Asn1292Ile",
"transcript": "ENST00000305544.9",
"protein_id": "ENSP00000307156.4",
"transcript_support_level": 1,
"aa_start": 1292,
"aa_end": null,
"aa_length": 1798,
"cds_start": 3875,
"cds_end": null,
"cds_length": 5397,
"cdna_start": 4058,
"cdna_end": null,
"cdna_length": 5692,
"mane_select": "NM_002292.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000305544.9"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB2",
"gene_hgnc_id": 6487,
"hgvs_c": "c.3875A>T",
"hgvs_p": "p.Asn1292Ile",
"transcript": "ENST00000418109.5",
"protein_id": "ENSP00000388325.1",
"transcript_support_level": 1,
"aa_start": 1292,
"aa_end": null,
"aa_length": 1798,
"cds_start": 3875,
"cds_end": null,
"cds_length": 5397,
"cdna_start": 4040,
"cdna_end": null,
"cdna_length": 5674,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418109.5"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB2",
"gene_hgnc_id": 6487,
"hgvs_c": "c.3917A>T",
"hgvs_p": "p.Asn1306Ile",
"transcript": "ENST00000960189.1",
"protein_id": "ENSP00000630248.1",
"transcript_support_level": null,
"aa_start": 1306,
"aa_end": null,
"aa_length": 1812,
"cds_start": 3917,
"cds_end": null,
"cds_length": 5439,
"cdna_start": 4093,
"cdna_end": null,
"cdna_length": 5728,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960189.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB2",
"gene_hgnc_id": 6487,
"hgvs_c": "c.3917A>T",
"hgvs_p": "p.Asn1306Ile",
"transcript": "ENST00000960202.1",
"protein_id": "ENSP00000630261.1",
"transcript_support_level": null,
"aa_start": 1306,
"aa_end": null,
"aa_length": 1812,
"cds_start": 3917,
"cds_end": null,
"cds_length": 5439,
"cdna_start": 4052,
"cdna_end": null,
"cdna_length": 5683,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960202.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB2",
"gene_hgnc_id": 6487,
"hgvs_c": "c.3875A>T",
"hgvs_p": "p.Asn1292Ile",
"transcript": "ENST00000960193.1",
"protein_id": "ENSP00000630252.1",
"transcript_support_level": null,
"aa_start": 1292,
"aa_end": null,
"aa_length": 1807,
"cds_start": 3875,
"cds_end": null,
"cds_length": 5424,
"cdna_start": 4033,
"cdna_end": null,
"cdna_length": 5694,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960193.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB2",
"gene_hgnc_id": 6487,
"hgvs_c": "c.3887A>T",
"hgvs_p": "p.Asn1296Ile",
"transcript": "ENST00000884814.1",
"protein_id": "ENSP00000554873.1",
"transcript_support_level": null,
"aa_start": 1296,
"aa_end": null,
"aa_length": 1802,
"cds_start": 3887,
"cds_end": null,
"cds_length": 5409,
"cdna_start": 4050,
"cdna_end": null,
"cdna_length": 5684,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884814.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB2",
"gene_hgnc_id": 6487,
"hgvs_c": "c.3887A>T",
"hgvs_p": "p.Asn1296Ile",
"transcript": "ENST00000960192.1",
"protein_id": "ENSP00000630251.1",
"transcript_support_level": null,
"aa_start": 1296,
"aa_end": null,
"aa_length": 1800,
"cds_start": 3887,
"cds_end": null,
"cds_length": 5403,
"cdna_start": 4048,
"cdna_end": null,
"cdna_length": 5675,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960192.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB2",
"gene_hgnc_id": 6487,
"hgvs_c": "c.3875A>T",
"hgvs_p": "p.Asn1292Ile",
"transcript": "ENST00000960197.1",
"protein_id": "ENSP00000630256.1",
"transcript_support_level": null,
"aa_start": 1292,
"aa_end": null,
"aa_length": 1797,
"cds_start": 3875,
"cds_end": null,
"cds_length": 5394,
"cdna_start": 4030,
"cdna_end": null,
"cdna_length": 5661,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960197.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB2",
"gene_hgnc_id": 6487,
"hgvs_c": "c.3875A>T",
"hgvs_p": "p.Asn1292Ile",
"transcript": "ENST00000884810.1",
"protein_id": "ENSP00000554869.1",
"transcript_support_level": null,
"aa_start": 1292,
"aa_end": null,
"aa_length": 1796,
"cds_start": 3875,
"cds_end": null,
"cds_length": 5391,
"cdna_start": 4064,
"cdna_end": null,
"cdna_length": 5693,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884810.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB2",
"gene_hgnc_id": 6487,
"hgvs_c": "c.3866A>T",
"hgvs_p": "p.Asn1289Ile",
"transcript": "ENST00000921218.1",
"protein_id": "ENSP00000591277.1",
"transcript_support_level": null,
"aa_start": 1289,
"aa_end": null,
"aa_length": 1795,
"cds_start": 3866,
"cds_end": null,
"cds_length": 5388,
"cdna_start": 4048,
"cdna_end": null,
"cdna_length": 5682,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921218.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB2",
"gene_hgnc_id": 6487,
"hgvs_c": "c.3866A>T",
"hgvs_p": "p.Asn1289Ile",
"transcript": "ENST00000960188.1",
"protein_id": "ENSP00000630247.1",
"transcript_support_level": null,
"aa_start": 1289,
"aa_end": null,
"aa_length": 1795,
"cds_start": 3866,
"cds_end": null,
"cds_length": 5388,
"cdna_start": 4048,
"cdna_end": null,
"cdna_length": 5681,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960188.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB2",
"gene_hgnc_id": 6487,
"hgvs_c": "c.3875A>T",
"hgvs_p": "p.Asn1292Ile",
"transcript": "ENST00000960187.1",
"protein_id": "ENSP00000630246.1",
"transcript_support_level": null,
"aa_start": 1292,
"aa_end": null,
"aa_length": 1791,
"cds_start": 3875,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 4057,
"cdna_end": null,
"cdna_length": 5670,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960187.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB2",
"gene_hgnc_id": 6487,
"hgvs_c": "c.3809A>T",
"hgvs_p": "p.Asn1270Ile",
"transcript": "ENST00000960195.1",
"protein_id": "ENSP00000630254.1",
"transcript_support_level": null,
"aa_start": 1270,
"aa_end": null,
"aa_length": 1776,
"cds_start": 3809,
"cds_end": null,
"cds_length": 5331,
"cdna_start": 3966,
"cdna_end": null,
"cdna_length": 5599,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960195.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB2",
"gene_hgnc_id": 6487,
"hgvs_c": "c.3875A>T",
"hgvs_p": "p.Asn1292Ile",
"transcript": "ENST00000960203.1",
"protein_id": "ENSP00000630262.1",
"transcript_support_level": null,
"aa_start": 1292,
"aa_end": null,
"aa_length": 1776,
"cds_start": 3875,
"cds_end": null,
"cds_length": 5331,
"cdna_start": 3964,
"cdna_end": null,
"cdna_length": 5532,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960203.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB2",
"gene_hgnc_id": 6487,
"hgvs_c": "c.3875A>T",
"hgvs_p": "p.Asn1292Ile",
"transcript": "ENST00000960199.1",
"protein_id": "ENSP00000630258.1",
"transcript_support_level": null,
"aa_start": 1292,
"aa_end": null,
"aa_length": 1767,
"cds_start": 3875,
"cds_end": null,
"cds_length": 5304,
"cdna_start": 4028,
"cdna_end": null,
"cdna_length": 5568,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960199.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB2",
"gene_hgnc_id": 6487,
"hgvs_c": "c.3875A>T",
"hgvs_p": "p.Asn1292Ile",
"transcript": "ENST00000960186.1",
"protein_id": "ENSP00000630245.1",
"transcript_support_level": null,
"aa_start": 1292,
"aa_end": null,
"aa_length": 1762,
"cds_start": 3875,
"cds_end": null,
"cds_length": 5289,
"cdna_start": 4057,
"cdna_end": null,
"cdna_length": 5584,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960186.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB2",
"gene_hgnc_id": 6487,
"hgvs_c": "c.3764A>T",
"hgvs_p": "p.Asn1255Ile",
"transcript": "ENST00000884809.1",
"protein_id": "ENSP00000554868.1",
"transcript_support_level": null,
"aa_start": 1255,
"aa_end": null,
"aa_length": 1761,
"cds_start": 3764,
"cds_end": null,
"cds_length": 5286,
"cdna_start": 3960,
"cdna_end": null,
"cdna_length": 5594,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884809.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB2",
"gene_hgnc_id": 6487,
"hgvs_c": "c.3764A>T",
"hgvs_p": "p.Asn1255Ile",
"transcript": "ENST00000960191.1",
"protein_id": "ENSP00000630250.1",
"transcript_support_level": null,
"aa_start": 1255,
"aa_end": null,
"aa_length": 1759,
"cds_start": 3764,
"cds_end": null,
"cds_length": 5280,
"cdna_start": 3932,
"cdna_end": null,
"cdna_length": 5560,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960191.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB2",
"gene_hgnc_id": 6487,
"hgvs_c": "c.3731A>T",
"hgvs_p": "p.Asn1244Ile",
"transcript": "ENST00000884815.1",
"protein_id": "ENSP00000554874.1",
"transcript_support_level": null,
"aa_start": 1244,
"aa_end": null,
"aa_length": 1750,
"cds_start": 3731,
"cds_end": null,
"cds_length": 5253,
"cdna_start": 3893,
"cdna_end": null,
"cdna_length": 5527,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884815.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB2",
"gene_hgnc_id": 6487,
"hgvs_c": "c.3716A>T",
"hgvs_p": "p.Asn1239Ile",
"transcript": "ENST00000960185.1",
"protein_id": "ENSP00000630244.1",
"transcript_support_level": null,
"aa_start": 1239,
"aa_end": null,
"aa_length": 1745,
"cds_start": 3716,
"cds_end": null,
"cds_length": 5238,
"cdna_start": 3899,
"cdna_end": null,
"cdna_length": 5533,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960185.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB2",
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{
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"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"phenotype_combined": "LAMB2-related infantile-onset nephrotic syndrome;Pierson syndrome|Pierson syndrome|LAMB2-related infantile-onset nephrotic syndrome|LAMB2-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}