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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: 1-66972852-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=66972852&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 66972852,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000401041.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.1007-45A>T",
"hgvs_p": null,
"transcript": "NM_001077700.3",
"protein_id": "NP_001071168.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 565,
"cds_start": -4,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5456,
"mane_select": "ENST00000401041.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.1007-45A>T",
"hgvs_p": null,
"transcript": "ENST00000401041.6",
"protein_id": "ENSP00000383820.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 565,
"cds_start": -4,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5456,
"mane_select": "NM_001077700.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.899-45A>T",
"hgvs_p": null,
"transcript": "ENST00000357692.6",
"protein_id": "ENSP00000350321.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 529,
"cds_start": -4,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.848-45A>T",
"hgvs_p": null,
"transcript": "ENST00000355356.3",
"protein_id": "ENSP00000347514.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 512,
"cds_start": -4,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.899-45A>T",
"hgvs_p": null,
"transcript": "ENST00000371018.7",
"protein_id": "ENSP00000360057.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 470,
"cds_start": -4,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.899-45A>T",
"hgvs_p": null,
"transcript": "ENST00000371016.5",
"protein_id": "ENSP00000360055.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 450,
"cds_start": -4,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.848-45A>T",
"hgvs_p": null,
"transcript": "ENST00000401042.7",
"protein_id": "ENSP00000383821.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 433,
"cds_start": -4,
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"cds_length": 1302,
"cdna_start": null,
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"cdna_length": 1648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.1118-45A>T",
"hgvs_p": null,
"transcript": "NM_001350530.2",
"protein_id": "NP_001337459.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 602,
"cds_start": -4,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.899-45A>T",
"hgvs_p": null,
"transcript": "NM_001146110.2",
"protein_id": "NP_001139582.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 529,
"cds_start": -4,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.899-45A>T",
"hgvs_p": null,
"transcript": "NM_020948.4",
"protein_id": "NP_065999.2",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 529,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 9,
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"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.848-45A>T",
"hgvs_p": null,
"transcript": "NM_001077701.3",
"protein_id": "NP_001071169.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "MIER1",
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"transcript": "NM_001077703.3",
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},
{
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"consequences": [
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],
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"gene_symbol": "MIER1",
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"hgvs_c": "c.1007-45A>T",
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"transcript": "ENST00000371014.5",
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},
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],
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"gene_symbol": "MIER1",
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],
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},
{
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],
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"intron_rank": 11,
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"gene_symbol": "MIER1",
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"hgvs_c": "c.899-45A>T",
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"gene_symbol": "MIER1",
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"hgvs_c": "c.848-45A>T",
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},
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],
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"intron_rank": 9,
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"gene_symbol": "MIER1",
"gene_hgnc_id": 29657,
"hgvs_c": "c.659-45A>T",
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"transcript": "NM_001146113.2",
"protein_id": "NP_001139585.1",
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],
"exon_rank": null,
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"intron_rank": 9,
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"gene_symbol": "MIER1",
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"hgvs_c": "c.659-45A>T",
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"transcript": "ENST00000355977.10",
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},
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],
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"gene_symbol": "MIER1",
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"transcript": "XM_011541865.3",
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},
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],
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"gene_symbol": "MIER1",
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},
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],
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"gene_symbol": "MIER1",
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"hgvs_c": "c.956-45A>T",
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"transcript": "XM_017001920.2",
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},
{
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"protein_coding": true,
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"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "MIER1",
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"hgvs_c": "c.947-45A>T",
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"transcript": "XM_047426255.1",
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