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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: 14-105211266-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=105211266&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 105211266,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001519.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1852G>A",
"hgvs_p": "p.Gly618Arg",
"transcript": "NM_001519.4",
"protein_id": "NP_001510.2",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 677,
"cds_start": 1852,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000547530.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001519.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1852G>A",
"hgvs_p": "p.Gly618Arg",
"transcript": "ENST00000547530.7",
"protein_id": "ENSP00000448387.2",
"transcript_support_level": 1,
"aa_start": 618,
"aa_end": null,
"aa_length": 677,
"cds_start": 1852,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001519.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547530.7"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1771G>A",
"hgvs_p": "p.Gly591Arg",
"transcript": "ENST00000379937.6",
"protein_id": "ENSP00000369269.2",
"transcript_support_level": 1,
"aa_start": 591,
"aa_end": null,
"aa_length": 650,
"cds_start": 1771,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379937.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1240G>A",
"hgvs_p": "p.Gly414Arg",
"transcript": "ENST00000392557.8",
"protein_id": "ENSP00000376340.4",
"transcript_support_level": 1,
"aa_start": 414,
"aa_end": null,
"aa_length": 473,
"cds_start": 1240,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392557.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.403-1607G>A",
"hgvs_p": null,
"transcript": "ENST00000551787.5",
"protein_id": "ENSP00000446901.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 161,
"cds_start": null,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551787.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1972G>A",
"hgvs_p": "p.Gly658Arg",
"transcript": "ENST00000910241.1",
"protein_id": "ENSP00000580300.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 717,
"cds_start": 1972,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910241.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1960G>A",
"hgvs_p": "p.Gly654Arg",
"transcript": "ENST00000910245.1",
"protein_id": "ENSP00000580304.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 713,
"cds_start": 1960,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910245.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1915G>A",
"hgvs_p": "p.Gly639Arg",
"transcript": "ENST00000910239.1",
"protein_id": "ENSP00000580298.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 698,
"cds_start": 1915,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910239.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1849G>A",
"hgvs_p": "p.Gly617Arg",
"transcript": "NM_001440449.1",
"protein_id": "NP_001427378.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 676,
"cds_start": 1849,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440449.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1849G>A",
"hgvs_p": "p.Gly617Arg",
"transcript": "ENST00000910238.1",
"protein_id": "ENSP00000580297.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 676,
"cds_start": 1849,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910238.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1846G>A",
"hgvs_p": "p.Gly616Arg",
"transcript": "ENST00000910242.1",
"protein_id": "ENSP00000580301.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 675,
"cds_start": 1846,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910242.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1771G>A",
"hgvs_p": "p.Gly591Arg",
"transcript": "NM_001242788.2",
"protein_id": "NP_001229717.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 650,
"cds_start": 1771,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242788.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1768G>A",
"hgvs_p": "p.Gly590Arg",
"transcript": "ENST00000910240.1",
"protein_id": "ENSP00000580299.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 649,
"cds_start": 1768,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910240.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1702G>A",
"hgvs_p": "p.Gly568Arg",
"transcript": "NM_001440450.1",
"protein_id": "NP_001427379.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 627,
"cds_start": 1702,
"cds_end": null,
"cds_length": 1884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440450.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1699G>A",
"hgvs_p": "p.Gly567Arg",
"transcript": "ENST00000957204.1",
"protein_id": "ENSP00000627263.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 626,
"cds_start": 1699,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957204.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1573G>A",
"hgvs_p": "p.Gly525Arg",
"transcript": "NM_001242786.2",
"protein_id": "NP_001229715.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 584,
"cds_start": 1573,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242786.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1573G>A",
"hgvs_p": "p.Gly525Arg",
"transcript": "ENST00000440513.7",
"protein_id": "ENSP00000388877.3",
"transcript_support_level": 2,
"aa_start": 525,
"aa_end": null,
"aa_length": 584,
"cds_start": 1573,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440513.7"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1507G>A",
"hgvs_p": "p.Gly503Arg",
"transcript": "NM_001242787.2",
"protein_id": "NP_001229716.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 562,
"cds_start": 1507,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242787.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1507G>A",
"hgvs_p": "p.Gly503Arg",
"transcript": "ENST00000327359.7",
"protein_id": "ENSP00000329029.3",
"transcript_support_level": 2,
"aa_start": 503,
"aa_end": null,
"aa_length": 562,
"cds_start": 1507,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327359.7"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1498G>A",
"hgvs_p": "p.Gly500Arg",
"transcript": "ENST00000910244.1",
"protein_id": "ENSP00000580303.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 559,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910244.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1420G>A",
"hgvs_p": "p.Gly474Arg",
"transcript": "ENST00000910247.1",
"protein_id": "ENSP00000580306.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 533,
"cds_start": 1420,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910247.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1357G>A",
"hgvs_p": "p.Gly453Arg",
"transcript": "NM_001440451.1",
"protein_id": "NP_001427380.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 512,
"cds_start": 1357,
"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_001440451.1"
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{
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}