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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: 1-66958953-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=66958953&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 66958953,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001350530.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Arg202Cys",
"transcript": "NM_001077700.3",
"protein_id": "NP_001071168.2",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 565,
"cds_start": 604,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000401041.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001077700.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Arg202Cys",
"transcript": "ENST00000401041.6",
"protein_id": "ENSP00000383820.1",
"transcript_support_level": 2,
"aa_start": 202,
"aa_end": null,
"aa_length": 565,
"cds_start": 604,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001077700.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401041.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.496C>T",
"hgvs_p": "p.Arg166Cys",
"transcript": "ENST00000357692.6",
"protein_id": "ENSP00000350321.2",
"transcript_support_level": 1,
"aa_start": 166,
"aa_end": null,
"aa_length": 529,
"cds_start": 496,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357692.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Arg149Cys",
"transcript": "ENST00000355356.3",
"protein_id": "ENSP00000347514.3",
"transcript_support_level": 1,
"aa_start": 149,
"aa_end": null,
"aa_length": 512,
"cds_start": 445,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355356.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.496C>T",
"hgvs_p": "p.Arg166Cys",
"transcript": "ENST00000371018.7",
"protein_id": "ENSP00000360057.3",
"transcript_support_level": 1,
"aa_start": 166,
"aa_end": null,
"aa_length": 470,
"cds_start": 496,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371018.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.496C>T",
"hgvs_p": "p.Arg166Cys",
"transcript": "ENST00000371016.5",
"protein_id": "ENSP00000360055.1",
"transcript_support_level": 1,
"aa_start": 166,
"aa_end": null,
"aa_length": 450,
"cds_start": 496,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371016.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Arg149Cys",
"transcript": "ENST00000401042.7",
"protein_id": "ENSP00000383821.3",
"transcript_support_level": 1,
"aa_start": 149,
"aa_end": null,
"aa_length": 433,
"cds_start": 445,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401042.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.715C>T",
"hgvs_p": "p.Arg239Cys",
"transcript": "NM_001350530.2",
"protein_id": "NP_001337459.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 602,
"cds_start": 715,
"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": "NM_001350530.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.496C>T",
"hgvs_p": "p.Arg166Cys",
"transcript": "NM_001146110.2",
"protein_id": "NP_001139582.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 529,
"cds_start": 496,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146110.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.496C>T",
"hgvs_p": "p.Arg166Cys",
"transcript": "NM_020948.4",
"protein_id": "NP_065999.2",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 529,
"cds_start": 496,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020948.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Arg149Cys",
"transcript": "NM_001077701.3",
"protein_id": "NP_001071169.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 512,
"cds_start": 445,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001077701.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Arg202Cys",
"transcript": "NM_001077703.3",
"protein_id": "NP_001071171.2",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 486,
"cds_start": 604,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001077703.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Arg202Cys",
"transcript": "ENST00000371014.5",
"protein_id": "ENSP00000360053.1",
"transcript_support_level": 2,
"aa_start": 202,
"aa_end": null,
"aa_length": 486,
"cds_start": 604,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371014.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Arg122Cys",
"transcript": "NM_001146112.2",
"protein_id": "NP_001139584.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 485,
"cds_start": 364,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146112.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.496C>T",
"hgvs_p": "p.Arg166Cys",
"transcript": "NM_001146111.2",
"protein_id": "NP_001139583.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 470,
"cds_start": 496,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146111.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.496C>T",
"hgvs_p": "p.Arg166Cys",
"transcript": "NM_001077702.3",
"protein_id": "NP_001071170.2",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 450,
"cds_start": 496,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001077702.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Arg149Cys",
"transcript": "NM_001077704.3",
"protein_id": "NP_001071172.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 433,
"cds_start": 445,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001077704.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Arg86Cys",
"transcript": "NM_001146113.2",
"protein_id": "NP_001139585.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 370,
"cds_start": 256,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146113.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Arg86Cys",
"transcript": "ENST00000355977.10",
"protein_id": "ENSP00000348253.6",
"transcript_support_level": 5,
"aa_start": 86,
"aa_end": null,
"aa_length": 370,
"cds_start": 256,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355977.10"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.676C>T",
"hgvs_p": "p.Arg226Cys",
"transcript": "XM_011541865.3",
"protein_id": "XP_011540167.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 589,
"cds_start": 676,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541865.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.553C>T",
"hgvs_p": "p.Arg185Cys",
"transcript": "XM_017001919.2",
"protein_id": "XP_016857408.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 548,
"cds_start": 553,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001919.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.553C>T",
"hgvs_p": "p.Arg185Cys",
"transcript": "XM_017001920.2",
"protein_id": "XP_016857409.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 548,
"cds_start": 553,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001920.2"
},
{
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],
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}