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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: 1-66972905-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=66972905&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 66972905,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001350530.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.1015T>C",
"hgvs_p": "p.Ser339Pro",
"transcript": "NM_001077700.3",
"protein_id": "NP_001071168.2",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 565,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1054,
"cdna_end": null,
"cdna_length": 5456,
"mane_select": "ENST00000401041.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001077700.3"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.1015T>C",
"hgvs_p": "p.Ser339Pro",
"transcript": "ENST00000401041.6",
"protein_id": "ENSP00000383820.1",
"transcript_support_level": 2,
"aa_start": 339,
"aa_end": null,
"aa_length": 565,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1054,
"cdna_end": null,
"cdna_length": 5456,
"mane_select": "NM_001077700.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401041.6"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.907T>C",
"hgvs_p": "p.Ser303Pro",
"transcript": "ENST00000357692.6",
"protein_id": "ENSP00000350321.2",
"transcript_support_level": 1,
"aa_start": 303,
"aa_end": null,
"aa_length": 529,
"cds_start": 907,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1164,
"cdna_end": null,
"cdna_length": 4978,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357692.6"
},
{
"aa_ref": "S",
"aa_alt": "P",
"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": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.856T>C",
"hgvs_p": "p.Ser286Pro",
"transcript": "ENST00000355356.3",
"protein_id": "ENSP00000347514.3",
"transcript_support_level": 1,
"aa_start": 286,
"aa_end": null,
"aa_length": 512,
"cds_start": 856,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 1005,
"cdna_end": null,
"cdna_length": 4818,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355356.3"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.907T>C",
"hgvs_p": "p.Ser303Pro",
"transcript": "ENST00000371018.7",
"protein_id": "ENSP00000360057.3",
"transcript_support_level": 1,
"aa_start": 303,
"aa_end": null,
"aa_length": 470,
"cds_start": 907,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 1223,
"cdna_end": null,
"cdna_length": 3875,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371018.7"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.907T>C",
"hgvs_p": "p.Ser303Pro",
"transcript": "ENST00000371016.5",
"protein_id": "ENSP00000360055.1",
"transcript_support_level": 1,
"aa_start": 303,
"aa_end": null,
"aa_length": 450,
"cds_start": 907,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 1159,
"cdna_end": null,
"cdna_length": 1802,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371016.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.856T>C",
"hgvs_p": "p.Ser286Pro",
"transcript": "ENST00000401042.7",
"protein_id": "ENSP00000383821.3",
"transcript_support_level": 1,
"aa_start": 286,
"aa_end": null,
"aa_length": 433,
"cds_start": 856,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1005,
"cdna_end": null,
"cdna_length": 1648,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401042.7"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.1126T>C",
"hgvs_p": "p.Ser376Pro",
"transcript": "NM_001350530.2",
"protein_id": "NP_001337459.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 602,
"cds_start": 1126,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1165,
"cdna_end": null,
"cdna_length": 5567,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350530.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.907T>C",
"hgvs_p": "p.Ser303Pro",
"transcript": "NM_001146110.2",
"protein_id": "NP_001139582.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 529,
"cds_start": 907,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1131,
"cdna_end": null,
"cdna_length": 5533,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146110.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.907T>C",
"hgvs_p": "p.Ser303Pro",
"transcript": "NM_020948.4",
"protein_id": "NP_065999.2",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 529,
"cds_start": 907,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1128,
"cdna_end": null,
"cdna_length": 5530,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020948.4"
},
{
"aa_ref": "S",
"aa_alt": "P",
"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": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.856T>C",
"hgvs_p": "p.Ser286Pro",
"transcript": "NM_001077701.3",
"protein_id": "NP_001071169.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 512,
"cds_start": 856,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 992,
"cdna_end": null,
"cdna_length": 5394,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001077701.3"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.1015T>C",
"hgvs_p": "p.Ser339Pro",
"transcript": "NM_001077703.3",
"protein_id": "NP_001071171.2",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 486,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 1054,
"cdna_end": null,
"cdna_length": 3646,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001077703.3"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.1015T>C",
"hgvs_p": "p.Ser339Pro",
"transcript": "ENST00000371014.5",
"protein_id": "ENSP00000360053.1",
"transcript_support_level": 2,
"aa_start": 339,
"aa_end": null,
"aa_length": 486,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 1085,
"cdna_end": null,
"cdna_length": 1728,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371014.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.775T>C",
"hgvs_p": "p.Ser259Pro",
"transcript": "NM_001146112.2",
"protein_id": "NP_001139584.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 485,
"cds_start": 775,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 1089,
"cdna_end": null,
"cdna_length": 5491,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146112.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.907T>C",
"hgvs_p": "p.Ser303Pro",
"transcript": "NM_001146111.2",
"protein_id": "NP_001139583.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 470,
"cds_start": 907,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 1128,
"cdna_end": null,
"cdna_length": 3780,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146111.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.907T>C",
"hgvs_p": "p.Ser303Pro",
"transcript": "NM_001077702.3",
"protein_id": "NP_001071170.2",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 450,
"cds_start": 907,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 1128,
"cdna_end": null,
"cdna_length": 3720,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001077702.3"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.856T>C",
"hgvs_p": "p.Ser286Pro",
"transcript": "NM_001077704.3",
"protein_id": "NP_001071172.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 433,
"cds_start": 856,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 992,
"cdna_end": null,
"cdna_length": 3584,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001077704.3"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.667T>C",
"hgvs_p": "p.Ser223Pro",
"transcript": "NM_001146113.2",
"protein_id": "NP_001139585.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 370,
"cds_start": 667,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 908,
"cdna_end": null,
"cdna_length": 3500,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146113.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.667T>C",
"hgvs_p": "p.Ser223Pro",
"transcript": "ENST00000355977.10",
"protein_id": "ENSP00000348253.6",
"transcript_support_level": 5,
"aa_start": 223,
"aa_end": null,
"aa_length": 370,
"cds_start": 667,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1003,
"cdna_end": null,
"cdna_length": 3595,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355977.10"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.1087T>C",
"hgvs_p": "p.Ser363Pro",
"transcript": "XM_011541865.3",
"protein_id": "XP_011540167.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 589,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1126,
"cdna_end": null,
"cdna_length": 5528,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541865.3"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.964T>C",
"hgvs_p": "p.Ser322Pro",
"transcript": "XM_017001919.2",
"protein_id": "XP_016857408.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 548,
"cds_start": 964,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1108,
"cdna_end": null,
"cdna_length": 5510,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001919.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.964T>C",
"hgvs_p": "p.Ser322Pro",
"transcript": "XM_017001920.2",
"protein_id": "XP_016857409.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 548,
"cds_start": 964,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1108,
"cdna_end": null,
"cdna_length": 5510,
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{
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}