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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: 7-2539313-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=2539313&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 2539313,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001350626.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"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": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.1636G>A",
"hgvs_p": "p.Val546Met",
"transcript": "NM_152743.4",
"protein_id": "NP_689956.2",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 821,
"cds_start": 1636,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000340611.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152743.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"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": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.1636G>A",
"hgvs_p": "p.Val546Met",
"transcript": "ENST00000340611.9",
"protein_id": "ENSP00000339637.4",
"transcript_support_level": 1,
"aa_start": 546,
"aa_end": null,
"aa_length": 821,
"cds_start": 1636,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152743.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340611.9"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.1873G>A",
"hgvs_p": "p.Val625Met",
"transcript": "ENST00000890463.1",
"protein_id": "ENSP00000560522.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 900,
"cds_start": 1873,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890463.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.1870G>A",
"hgvs_p": "p.Val624Met",
"transcript": "ENST00000917322.1",
"protein_id": "ENSP00000587381.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 899,
"cds_start": 1870,
"cds_end": null,
"cds_length": 2700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917322.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.1843G>A",
"hgvs_p": "p.Val615Met",
"transcript": "ENST00000890472.1",
"protein_id": "ENSP00000560531.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 890,
"cds_start": 1843,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890472.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.1828G>A",
"hgvs_p": "p.Val610Met",
"transcript": "ENST00000917323.1",
"protein_id": "ENSP00000587382.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 885,
"cds_start": 1828,
"cds_end": null,
"cds_length": 2658,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917323.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.1636G>A",
"hgvs_p": "p.Val546Met",
"transcript": "NM_001350626.2",
"protein_id": "NP_001337555.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 881,
"cds_start": 1636,
"cds_end": null,
"cds_length": 2646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350626.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.1636G>A",
"hgvs_p": "p.Val546Met",
"transcript": "ENST00000890462.1",
"protein_id": "ENSP00000560521.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 881,
"cds_start": 1636,
"cds_end": null,
"cds_length": 2646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890462.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.1636G>A",
"hgvs_p": "p.Val546Met",
"transcript": "ENST00000890481.1",
"protein_id": "ENSP00000560540.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 881,
"cds_start": 1636,
"cds_end": null,
"cds_length": 2646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890481.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.1633G>A",
"hgvs_p": "p.Val545Met",
"transcript": "ENST00000890470.1",
"protein_id": "ENSP00000560529.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 880,
"cds_start": 1633,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890470.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.1777G>A",
"hgvs_p": "p.Val593Met",
"transcript": "ENST00000890464.1",
"protein_id": "ENSP00000560523.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 868,
"cds_start": 1777,
"cds_end": null,
"cds_length": 2607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890464.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.1753G>A",
"hgvs_p": "p.Val585Met",
"transcript": "ENST00000970715.1",
"protein_id": "ENSP00000640774.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 860,
"cds_start": 1753,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970715.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.1741G>A",
"hgvs_p": "p.Val581Met",
"transcript": "ENST00000917321.1",
"protein_id": "ENSP00000587380.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 856,
"cds_start": 1741,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917321.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.1720G>A",
"hgvs_p": "p.Val574Met",
"transcript": "ENST00000890468.1",
"protein_id": "ENSP00000560527.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 849,
"cds_start": 1720,
"cds_end": null,
"cds_length": 2550,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890468.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.1717G>A",
"hgvs_p": "p.Val573Met",
"transcript": "ENST00000917319.1",
"protein_id": "ENSP00000587378.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 848,
"cds_start": 1717,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917319.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.1693G>A",
"hgvs_p": "p.Val565Met",
"transcript": "ENST00000890471.1",
"protein_id": "ENSP00000560530.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 840,
"cds_start": 1693,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890471.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.1693G>A",
"hgvs_p": "p.Val565Met",
"transcript": "ENST00000890484.1",
"protein_id": "ENSP00000560543.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 840,
"cds_start": 1693,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890484.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.1693G>A",
"hgvs_p": "p.Val565Met",
"transcript": "ENST00000970714.1",
"protein_id": "ENSP00000640773.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 840,
"cds_start": 1693,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970714.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.1690G>A",
"hgvs_p": "p.Val564Met",
"transcript": "ENST00000890474.1",
"protein_id": "ENSP00000560533.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 839,
"cds_start": 1690,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890474.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.1690G>A",
"hgvs_p": "p.Val564Met",
"transcript": "ENST00000890475.1",
"protein_id": "ENSP00000560534.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 839,
"cds_start": 1690,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890475.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.1684G>A",
"hgvs_p": "p.Val562Met",
"transcript": "ENST00000917329.1",
"protein_id": "ENSP00000587388.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 837,
"cds_start": 1684,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917329.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.1669G>A",
"hgvs_p": "p.Val557Met",
"transcript": "ENST00000890476.1",
"protein_id": "ENSP00000560535.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 832,
"cds_start": 1669,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420036.1"
}
],
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"dbsnp": "rs34656552",
"frequency_reference_population": 0.0000034258871,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000342589,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1842229664325714,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.165,
"revel_prediction": "Benign",
"alphamissense_score": 0.1767,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.026,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001350626.2",
"gene_symbol": "BRAT1",
"hgnc_id": 21701,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1636G>A",
"hgvs_p": "p.Val546Met"
}
],
"clinvar_disease": "Inborn genetic diseases,Neonatal-onset encephalopathy with rigidity and seizures",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Neonatal-onset encephalopathy with rigidity and seizures|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}