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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: 3-48964947-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=48964947&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 48964947,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001349213.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH2",
"gene_hgnc_id": 690,
"hgvs_c": "c.352G>T",
"hgvs_p": "p.Val118Phe",
"transcript": "NM_006321.4",
"protein_id": "NP_006312.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 493,
"cds_start": 352,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 4912,
"mane_select": "ENST00000356401.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006321.4"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH2",
"gene_hgnc_id": 690,
"hgvs_c": "c.352G>T",
"hgvs_p": "p.Val118Phe",
"transcript": "ENST00000356401.9",
"protein_id": "ENSP00000348769.4",
"transcript_support_level": 1,
"aa_start": 118,
"aa_end": null,
"aa_length": 493,
"cds_start": 352,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 4912,
"mane_select": "NM_006321.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356401.9"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH2",
"gene_hgnc_id": 690,
"hgvs_c": "c.352G>T",
"hgvs_p": "p.Val118Phe",
"transcript": "ENST00000449376.5",
"protein_id": "ENSP00000403222.1",
"transcript_support_level": 1,
"aa_start": 118,
"aa_end": null,
"aa_length": 493,
"cds_start": 352,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 798,
"cdna_end": null,
"cdna_length": 2278,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449376.5"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH2",
"gene_hgnc_id": 690,
"hgvs_c": "c.352G>T",
"hgvs_p": "p.Val118Phe",
"transcript": "ENST00000972221.1",
"protein_id": "ENSP00000642280.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 523,
"cds_start": 352,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 2888,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972221.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH2",
"gene_hgnc_id": 690,
"hgvs_c": "c.352G>T",
"hgvs_p": "p.Val118Phe",
"transcript": "NM_001349213.2",
"protein_id": "NP_001336142.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 516,
"cds_start": 352,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 792,
"cdna_end": null,
"cdna_length": 5103,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349213.2"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH2",
"gene_hgnc_id": 690,
"hgvs_c": "c.352G>T",
"hgvs_p": "p.Val118Phe",
"transcript": "NM_001349214.2",
"protein_id": "NP_001336143.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 516,
"cds_start": 352,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 4981,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349214.2"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH2",
"gene_hgnc_id": 690,
"hgvs_c": "c.352G>T",
"hgvs_p": "p.Val118Phe",
"transcript": "ENST00000907509.1",
"protein_id": "ENSP00000577568.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 516,
"cds_start": 352,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 808,
"cdna_end": null,
"cdna_length": 2906,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907509.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH2",
"gene_hgnc_id": 690,
"hgvs_c": "c.352G>T",
"hgvs_p": "p.Val118Phe",
"transcript": "ENST00000907514.1",
"protein_id": "ENSP00000577573.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 516,
"cds_start": 352,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 789,
"cdna_end": null,
"cdna_length": 2338,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907514.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH2",
"gene_hgnc_id": 690,
"hgvs_c": "c.352G>T",
"hgvs_p": "p.Val118Phe",
"transcript": "ENST00000907520.1",
"protein_id": "ENSP00000577579.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 516,
"cds_start": 352,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 2314,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907520.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH2",
"gene_hgnc_id": 690,
"hgvs_c": "c.352G>T",
"hgvs_p": "p.Val118Phe",
"transcript": "ENST00000907521.1",
"protein_id": "ENSP00000577580.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 516,
"cds_start": 352,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 705,
"cdna_end": null,
"cdna_length": 2240,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907521.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH2",
"gene_hgnc_id": 690,
"hgvs_c": "c.352G>T",
"hgvs_p": "p.Val118Phe",
"transcript": "ENST00000913588.1",
"protein_id": "ENSP00000583647.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 516,
"cds_start": 352,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 643,
"cdna_end": null,
"cdna_length": 2252,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913588.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH2",
"gene_hgnc_id": 690,
"hgvs_c": "c.352G>T",
"hgvs_p": "p.Val118Phe",
"transcript": "ENST00000972216.1",
"protein_id": "ENSP00000642275.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 516,
"cds_start": 352,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 723,
"cdna_end": null,
"cdna_length": 4188,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972216.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH2",
"gene_hgnc_id": 690,
"hgvs_c": "c.352G>T",
"hgvs_p": "p.Val118Phe",
"transcript": "ENST00000972220.1",
"protein_id": "ENSP00000642279.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 516,
"cds_start": 352,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 869,
"cdna_end": null,
"cdna_length": 4334,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972220.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 5,
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"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH2",
"gene_hgnc_id": 690,
"hgvs_c": "c.352G>T",
"hgvs_p": "p.Val118Phe",
"transcript": "ENST00000972226.1",
"protein_id": "ENSP00000642285.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 516,
"cds_start": 352,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 709,
"cdna_end": null,
"cdna_length": 2317,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972226.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH2",
"gene_hgnc_id": 690,
"hgvs_c": "c.421G>T",
"hgvs_p": "p.Val141Phe",
"transcript": "ENST00000972227.1",
"protein_id": "ENSP00000642286.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 516,
"cds_start": 421,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 853,
"cdna_end": null,
"cdna_length": 2333,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972227.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH2",
"gene_hgnc_id": 690,
"hgvs_c": "c.352G>T",
"hgvs_p": "p.Val118Phe",
"transcript": "ENST00000972233.1",
"protein_id": "ENSP00000642292.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 516,
"cds_start": 352,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 767,
"cdna_end": null,
"cdna_length": 2300,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972233.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH2",
"gene_hgnc_id": 690,
"hgvs_c": "c.352G>T",
"hgvs_p": "p.Val118Phe",
"transcript": "ENST00000972218.1",
"protein_id": "ENSP00000642277.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 499,
"cds_start": 352,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 778,
"cdna_end": null,
"cdna_length": 4191,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972218.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH2",
"gene_hgnc_id": 690,
"hgvs_c": "c.352G>T",
"hgvs_p": "p.Val118Phe",
"transcript": "NM_001317333.2",
"protein_id": "NP_001304262.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 493,
"cds_start": 352,
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"cdna_start": 792,
"cdna_end": null,
"cdna_length": 5034,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317333.2"
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH2",
"gene_hgnc_id": 690,
"hgvs_c": "c.352G>T",
"hgvs_p": "p.Val118Phe",
"transcript": "NM_001349209.2",
"protein_id": "NP_001336138.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 493,
"cds_start": 352,
"cds_end": null,
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"cdna_start": 728,
"cdna_end": null,
"cdna_length": 4970,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349209.2"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH2",
"gene_hgnc_id": 690,
"hgvs_c": "c.352G>T",
"hgvs_p": "p.Val118Phe",
"transcript": "NM_001349210.2",
"protein_id": "NP_001336139.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 493,
"cds_start": 352,
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"cdna_start": 912,
"cdna_end": null,
"cdna_length": 5154,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349210.2"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH2",
"gene_hgnc_id": 690,
"hgvs_c": "c.352G>T",
"hgvs_p": "p.Val118Phe",
"transcript": "NM_001349211.2",
"protein_id": "NP_001336140.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 493,
"cds_start": 352,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 606,
"cdna_end": null,
"cdna_length": 4848,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349211.2"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH2",
"gene_hgnc_id": 690,
"hgvs_c": "c.352G>T",
"hgvs_p": "p.Val118Phe",
"transcript": "ENST00000907507.1",
"protein_id": "ENSP00000577566.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 493,
"cds_start": 352,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 804,
"cdna_end": null,
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"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}