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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: 3-9657375-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=9657375&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 9657375,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001400518.1",
"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": 19,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.308+3606G>C",
"hgvs_p": null,
"transcript": "NM_001077525.3",
"protein_id": "NP_001070993.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 650,
"cds_start": null,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2452,
"mane_select": "ENST00000296003.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001077525.3"
},
{
"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": 19,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.308+3606G>C",
"hgvs_p": null,
"transcript": "ENST00000296003.9",
"protein_id": "ENSP00000296003.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 650,
"cds_start": null,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2452,
"mane_select": "NM_001077525.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296003.9"
},
{
"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": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.308+3606G>C",
"hgvs_p": null,
"transcript": "ENST00000353332.9",
"protein_id": "ENSP00000323462.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 598,
"cds_start": null,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2368,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353332.9"
},
{
"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": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.308+3606G>C",
"hgvs_p": null,
"transcript": "ENST00000351233.9",
"protein_id": "ENSP00000334070.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 538,
"cds_start": null,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2105,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000351233.9"
},
{
"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": 20,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.377+3606G>C",
"hgvs_p": null,
"transcript": "NM_001400518.1",
"protein_id": "NP_001387447.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 673,
"cds_start": null,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2654,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400518.1"
},
{
"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": 19,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.308+3606G>C",
"hgvs_p": null,
"transcript": "NM_001400519.1",
"protein_id": "NP_001387448.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 649,
"cds_start": null,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2449,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400519.1"
},
{
"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": 19,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.308+3606G>C",
"hgvs_p": null,
"transcript": "ENST00000863569.1",
"protein_id": "ENSP00000533628.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 649,
"cds_start": null,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2510,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863569.1"
},
{
"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": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.308+3606G>C",
"hgvs_p": null,
"transcript": "NM_001400520.1",
"protein_id": "NP_001387449.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 625,
"cds_start": null,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2377,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400520.1"
},
{
"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": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.308+3606G>C",
"hgvs_p": null,
"transcript": "ENST00000863571.1",
"protein_id": "ENSP00000533630.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 624,
"cds_start": null,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2417,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863571.1"
},
{
"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": 19,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.377+3606G>C",
"hgvs_p": null,
"transcript": "NM_001400521.1",
"protein_id": "NP_001387450.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 621,
"cds_start": null,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2498,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400521.1"
},
{
"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": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.308+3606G>C",
"hgvs_p": null,
"transcript": "NM_001077526.3",
"protein_id": "NP_001070994.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 598,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001077526.3"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 2,
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"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.308+3606G>C",
"hgvs_p": null,
"transcript": "NM_001400522.1",
"protein_id": "NP_001387451.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 597,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400522.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 2,
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"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.308+3606G>C",
"hgvs_p": null,
"transcript": "ENST00000863570.1",
"protein_id": "ENSP00000533629.1",
"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000863570.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "MTMR14",
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"hgvs_c": "c.308+3606G>C",
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"biotype": "protein_coding",
"feature": "ENST00000936842.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.308+3606G>C",
"hgvs_p": null,
"transcript": "ENST00000936843.1",
"protein_id": "ENSP00000606902.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000936843.1"
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 2,
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"gene_symbol": "MTMR14",
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"hgvs_c": "c.308+3606G>C",
"hgvs_p": null,
"transcript": "NM_001400523.1",
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"biotype": "protein_coding",
"feature": "NM_001400523.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 2,
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"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.308+3606G>C",
"hgvs_p": null,
"transcript": "ENST00000958417.1",
"protein_id": "ENSP00000628476.1",
"transcript_support_level": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000958417.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.308+3606G>C",
"hgvs_p": null,
"transcript": "NM_001400524.1",
"protein_id": "NP_001387453.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"feature": "NM_001400524.1"
},
{
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"strand": true,
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"intron_variant"
],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "MTMR14",
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"hgvs_c": "c.308+3606G>C",
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"transcript": "ENST00000863573.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
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"intron_rank": 2,
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"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.308+3606G>C",
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"transcript": "ENST00000958419.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.27-4892G>C",
"hgvs_p": null,
"transcript": "NM_001400525.1",
"protein_id": "NP_001387454.1",
"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400525.1"
},
{
"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": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.308+3606G>C",
"hgvs_p": null,
"transcript": "NM_022485.5",
"protein_id": "NP_071930.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 538,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 2116,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022485.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"verdict": "Benign",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
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"custom_annotations": null
}
],
"message": null
}