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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: 10-32911497-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=32911497&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 32911497,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_033668.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB1",
"gene_hgnc_id": 6153,
"hgvs_c": "c.1882C>G",
"hgvs_p": "p.Gln628Glu",
"transcript": "NM_002211.4",
"protein_id": "NP_002202.2",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 798,
"cds_start": 1882,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000302278.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002211.4"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB1",
"gene_hgnc_id": 6153,
"hgvs_c": "c.1882C>G",
"hgvs_p": "p.Gln628Glu",
"transcript": "ENST00000302278.8",
"protein_id": "ENSP00000303351.3",
"transcript_support_level": 1,
"aa_start": 628,
"aa_end": null,
"aa_length": 798,
"cds_start": 1882,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002211.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302278.8"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB1",
"gene_hgnc_id": 6153,
"hgvs_c": "c.1711C>G",
"hgvs_p": "p.Gln571Glu",
"transcript": "ENST00000488427.2",
"protein_id": "ENSP00000417508.2",
"transcript_support_level": 1,
"aa_start": 571,
"aa_end": null,
"aa_length": 741,
"cds_start": 1711,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000488427.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB1",
"gene_hgnc_id": 6153,
"hgvs_c": "c.2119C>G",
"hgvs_p": "p.Gln707Glu",
"transcript": "ENST00000966597.1",
"protein_id": "ENSP00000636656.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 877,
"cds_start": 2119,
"cds_end": null,
"cds_length": 2634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966597.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB1",
"gene_hgnc_id": 6153,
"hgvs_c": "c.1882C>G",
"hgvs_p": "p.Gln628Glu",
"transcript": "ENST00000677310.2",
"protein_id": "ENSP00000504508.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 825,
"cds_start": 1882,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677310.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB1",
"gene_hgnc_id": 6153,
"hgvs_c": "c.1882C>G",
"hgvs_p": "p.Gln628Glu",
"transcript": "ENST00000678766.1",
"protein_id": "ENSP00000503538.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 825,
"cds_start": 1882,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678766.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB1",
"gene_hgnc_id": 6153,
"hgvs_c": "c.1882C>G",
"hgvs_p": "p.Gln628Glu",
"transcript": "ENST00000676659.1",
"protein_id": "ENSP00000502979.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 819,
"cds_start": 1882,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676659.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB1",
"gene_hgnc_id": 6153,
"hgvs_c": "c.1906C>G",
"hgvs_p": "p.Gln636Glu",
"transcript": "ENST00000474568.6",
"protein_id": "ENSP00000420282.2",
"transcript_support_level": 5,
"aa_start": 636,
"aa_end": null,
"aa_length": 809,
"cds_start": 1906,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000474568.6"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB1",
"gene_hgnc_id": 6153,
"hgvs_c": "c.1906C>G",
"hgvs_p": "p.Gln636Glu",
"transcript": "ENST00000677363.1",
"protein_id": "ENSP00000504791.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 809,
"cds_start": 1906,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677363.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB1",
"gene_hgnc_id": 6153,
"hgvs_c": "c.1915C>G",
"hgvs_p": "p.Gln639Glu",
"transcript": "ENST00000898627.1",
"protein_id": "ENSP00000568686.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 809,
"cds_start": 1915,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898627.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB1",
"gene_hgnc_id": 6153,
"hgvs_c": "c.1912C>G",
"hgvs_p": "p.Gln638Glu",
"transcript": "ENST00000966589.1",
"protein_id": "ENSP00000636648.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 808,
"cds_start": 1912,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966589.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB1",
"gene_hgnc_id": 6153,
"hgvs_c": "c.1903C>G",
"hgvs_p": "p.Gln635Glu",
"transcript": "ENST00000898622.1",
"protein_id": "ENSP00000568681.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 805,
"cds_start": 1903,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898622.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB1",
"gene_hgnc_id": 6153,
"hgvs_c": "c.1882C>G",
"hgvs_p": "p.Gln628Glu",
"transcript": "NM_033668.2",
"protein_id": "NP_391988.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 801,
"cds_start": 1882,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033668.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB1",
"gene_hgnc_id": 6153,
"hgvs_c": "c.1882C>G",
"hgvs_p": "p.Gln628Glu",
"transcript": "ENST00000423113.6",
"protein_id": "ENSP00000388694.1",
"transcript_support_level": 5,
"aa_start": 628,
"aa_end": null,
"aa_length": 801,
"cds_start": 1882,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423113.6"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB1",
"gene_hgnc_id": 6153,
"hgvs_c": "c.1891C>G",
"hgvs_p": "p.Gln631Glu",
"transcript": "ENST00000488494.6",
"protein_id": "ENSP00000418725.2",
"transcript_support_level": 4,
"aa_start": 631,
"aa_end": null,
"aa_length": 801,
"cds_start": 1891,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000488494.6"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB1",
"gene_hgnc_id": 6153,
"hgvs_c": "c.1882C>G",
"hgvs_p": "p.Gln628Glu",
"transcript": "NM_133376.3",
"protein_id": "NP_596867.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 798,
"cds_start": 1882,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133376.3"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB1",
"gene_hgnc_id": 6153,
"hgvs_c": "c.1882C>G",
"hgvs_p": "p.Gln628Glu",
"transcript": "ENST00000396033.6",
"protein_id": "ENSP00000379350.2",
"transcript_support_level": 5,
"aa_start": 628,
"aa_end": null,
"aa_length": 798,
"cds_start": 1882,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396033.6"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB1",
"gene_hgnc_id": 6153,
"hgvs_c": "c.1882C>G",
"hgvs_p": "p.Gln628Glu",
"transcript": "ENST00000417122.7",
"protein_id": "ENSP00000404546.3",
"transcript_support_level": 4,
"aa_start": 628,
"aa_end": null,
"aa_length": 798,
"cds_start": 1882,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417122.7"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB1",
"gene_hgnc_id": 6153,
"hgvs_c": "c.1882C>G",
"hgvs_p": "p.Gln628Glu",
"transcript": "ENST00000437302.6",
"protein_id": "ENSP00000398029.2",
"transcript_support_level": 5,
"aa_start": 628,
"aa_end": null,
"aa_length": 798,
"cds_start": 1882,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437302.6"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB1",
"gene_hgnc_id": 6153,
"hgvs_c": "c.1882C>G",
"hgvs_p": "p.Gln628Glu",
"transcript": "ENST00000677999.1",
"protein_id": "ENSP00000503546.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 798,
"cds_start": 1882,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677999.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB1",
"gene_hgnc_id": 6153,
"hgvs_c": "c.1882C>G",
"hgvs_p": "p.Gln628Glu",
"transcript": "ENST00000678701.1",
"protein_id": "ENSP00000504205.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 798,
"cds_start": 1882,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678701.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB1",
"gene_hgnc_id": 6153,
"hgvs_c": "c.1882C>G",
"hgvs_p": "p.Gln628Glu",
"transcript": "ENST00000678943.1",
"protein_id": "ENSP00000503916.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 798,
"cds_start": 1882,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}