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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: 1-156136252-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=156136252&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 156136252,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_170707.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1196G>A",
"hgvs_p": "p.Arg399His",
"transcript": "NM_170707.4",
"protein_id": "NP_733821.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 664,
"cds_start": 1196,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1404,
"cdna_end": null,
"cdna_length": 3178,
"mane_select": "ENST00000368300.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1196G>A",
"hgvs_p": "p.Arg399His",
"transcript": "ENST00000368300.9",
"protein_id": "ENSP00000357283.4",
"transcript_support_level": 1,
"aa_start": 399,
"aa_end": null,
"aa_length": 664,
"cds_start": 1196,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1404,
"cdna_end": null,
"cdna_length": 3178,
"mane_select": "NM_170707.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1196G>A",
"hgvs_p": "p.Arg399His",
"transcript": "NM_005572.4",
"protein_id": "NP_005563.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 572,
"cds_start": 1196,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1404,
"cdna_end": null,
"cdna_length": 2029,
"mane_select": null,
"mane_plus": "ENST00000677389.1",
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1196G>A",
"hgvs_p": "p.Arg399His",
"transcript": "ENST00000677389.1",
"protein_id": "ENSP00000503633.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 572,
"cds_start": 1196,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1404,
"cdna_end": null,
"cdna_length": 2029,
"mane_select": null,
"mane_plus": "NM_005572.4",
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1196G>A",
"hgvs_p": "p.Arg399His",
"transcript": "ENST00000368299.7",
"protein_id": "ENSP00000357282.3",
"transcript_support_level": 1,
"aa_start": 399,
"aa_end": null,
"aa_length": 614,
"cds_start": 1196,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1393,
"cdna_end": null,
"cdna_length": 2253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "n.460G>A",
"hgvs_p": null,
"transcript": "ENST00000368298.2",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1196G>A",
"hgvs_p": "p.Arg399His",
"transcript": "ENST00000675667.1",
"protein_id": "ENSP00000501803.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 729,
"cds_start": 1196,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 1571,
"cdna_end": null,
"cdna_length": 2826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1196G>A",
"hgvs_p": "p.Arg399His",
"transcript": "NM_001406985.1",
"protein_id": "NP_001393914.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 686,
"cds_start": 1196,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1404,
"cdna_end": null,
"cdna_length": 2511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1196G>A",
"hgvs_p": "p.Arg399His",
"transcript": "NM_001406983.1",
"protein_id": "NP_001393912.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 664,
"cds_start": 1196,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1730,
"cdna_end": null,
"cdna_length": 3504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1196G>A",
"hgvs_p": "p.Arg399His",
"transcript": "NM_001406991.1",
"protein_id": "NP_001393920.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 664,
"cds_start": 1196,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1510,
"cdna_end": null,
"cdna_length": 3284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1196G>A",
"hgvs_p": "p.Arg399His",
"transcript": "ENST00000361308.9",
"protein_id": "ENSP00000355292.6",
"transcript_support_level": 5,
"aa_start": 399,
"aa_end": null,
"aa_length": 664,
"cds_start": 1196,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1479,
"cdna_end": null,
"cdna_length": 2465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1196G>A",
"hgvs_p": "p.Arg399His",
"transcript": "ENST00000675939.1",
"protein_id": "ENSP00000502256.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 664,
"cds_start": 1196,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1415,
"cdna_end": null,
"cdna_length": 2401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1196G>A",
"hgvs_p": "p.Arg399His",
"transcript": "ENST00000683032.1",
"protein_id": "ENSP00000506771.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 664,
"cds_start": 1196,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1411,
"cdna_end": null,
"cdna_length": 2329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1196G>A",
"hgvs_p": "p.Arg399His",
"transcript": "NM_170708.4",
"protein_id": "NP_733822.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 634,
"cds_start": 1196,
"cds_end": null,
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"cdna_start": 1404,
"cdna_end": null,
"cdna_length": 3088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1196G>A",
"hgvs_p": "p.Arg399His",
"transcript": "ENST00000676385.2",
"protein_id": "ENSP00000502091.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 634,
"cds_start": 1196,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 2037,
"cdna_end": null,
"cdna_length": 2811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1196G>A",
"hgvs_p": "p.Arg399His",
"transcript": "ENST00000682650.1",
"protein_id": "ENSP00000506904.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 634,
"cds_start": 1196,
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"cdna_start": 1410,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1196G>A",
"hgvs_p": "p.Arg399His",
"transcript": "NM_001282626.2",
"protein_id": "NP_001269555.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 614,
"cds_start": 1196,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1404,
"cdna_end": null,
"cdna_length": 3028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.953G>A",
"hgvs_p": "p.Arg318His",
"transcript": "NM_001406986.1",
"protein_id": "NP_001393915.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 583,
"cds_start": 953,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 1584,
"cdna_end": null,
"cdna_length": 3358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.953G>A",
"hgvs_p": "p.Arg318His",
"transcript": "NM_001406987.1",
"protein_id": "NP_001393916.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 583,
"cds_start": 953,
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"cdna_start": 1074,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.860G>A",
"hgvs_p": "p.Arg287His",
"transcript": "NM_001257374.3",
"protein_id": "NP_001244303.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 574,
"cds_start": 860,
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"cdna_start": 894,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.860G>A",
"hgvs_p": "p.Arg287His",
"transcript": "ENST00000448611.6",
"protein_id": "ENSP00000395597.2",
"transcript_support_level": 2,
"aa_start": 287,
"aa_end": null,
"aa_length": 574,
"cds_start": 860,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 904,
"cdna_end": null,
"cdna_length": 1943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1196G>A",
"hgvs_p": "p.Arg399His",
"transcript": "NM_001282625.2",
"protein_id": "NP_001269554.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 572,
"cds_start": 1196,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1842,
"cdna_end": null,
"cdna_length": 2467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1196G>A",
"hgvs_p": "p.Arg399His",
"transcript": "NM_001406984.1",
"protein_id": "NP_001393913.1",
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"phenotype_combined": "not provided|Charcot-Marie-Tooth disease type 2|Cardiomyopathy|Cardiovascular phenotype|11 conditions|Primary dilated cardiomyopathy",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}