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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: 15-82849827-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=82849827&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 82849827,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_199330.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOMER2",
"gene_hgnc_id": 17513,
"hgvs_c": "c.920G>A",
"hgvs_p": "p.Arg307Gln",
"transcript": "NM_004839.4",
"protein_id": "NP_004830.2",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 343,
"cds_start": 920,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000450735.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004839.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOMER2",
"gene_hgnc_id": 17513,
"hgvs_c": "c.920G>A",
"hgvs_p": "p.Arg307Gln",
"transcript": "ENST00000450735.7",
"protein_id": "ENSP00000407634.2",
"transcript_support_level": 1,
"aa_start": 307,
"aa_end": null,
"aa_length": 343,
"cds_start": 920,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004839.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450735.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOMER2",
"gene_hgnc_id": 17513,
"hgvs_c": "c.983G>A",
"hgvs_p": "p.Arg328Gln",
"transcript": "ENST00000855505.1",
"protein_id": "ENSP00000525564.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 364,
"cds_start": 983,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855505.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOMER2",
"gene_hgnc_id": 17513,
"hgvs_c": "c.953G>A",
"hgvs_p": "p.Arg318Gln",
"transcript": "NM_199330.3",
"protein_id": "NP_955362.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 354,
"cds_start": 953,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199330.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOMER2",
"gene_hgnc_id": 17513,
"hgvs_c": "c.953G>A",
"hgvs_p": "p.Arg318Gln",
"transcript": "ENST00000304231.12",
"protein_id": "ENSP00000305632.8",
"transcript_support_level": 5,
"aa_start": 318,
"aa_end": null,
"aa_length": 354,
"cds_start": 953,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304231.12"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOMER2",
"gene_hgnc_id": 17513,
"hgvs_c": "c.953G>A",
"hgvs_p": "p.Arg318Gln",
"transcript": "ENST00000960877.1",
"protein_id": "ENSP00000630936.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 354,
"cds_start": 953,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960877.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOMER2",
"gene_hgnc_id": 17513,
"hgvs_c": "c.920G>A",
"hgvs_p": "p.Arg307Gln",
"transcript": "ENST00000855499.1",
"protein_id": "ENSP00000525558.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 343,
"cds_start": 920,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855499.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOMER2",
"gene_hgnc_id": 17513,
"hgvs_c": "c.920G>A",
"hgvs_p": "p.Arg307Gln",
"transcript": "ENST00000855501.1",
"protein_id": "ENSP00000525559.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 343,
"cds_start": 920,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855501.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOMER2",
"gene_hgnc_id": 17513,
"hgvs_c": "c.842G>A",
"hgvs_p": "p.Arg281Gln",
"transcript": "ENST00000960879.1",
"protein_id": "ENSP00000630938.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 317,
"cds_start": 842,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960879.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOMER2",
"gene_hgnc_id": 17513,
"hgvs_c": "c.827G>A",
"hgvs_p": "p.Arg276Gln",
"transcript": "ENST00000855504.1",
"protein_id": "ENSP00000525562.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 312,
"cds_start": 827,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855504.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOMER2",
"gene_hgnc_id": 17513,
"hgvs_c": "c.827G>A",
"hgvs_p": "p.Arg276Gln",
"transcript": "ENST00000960878.1",
"protein_id": "ENSP00000630937.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 312,
"cds_start": 827,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960878.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOMER2",
"gene_hgnc_id": 17513,
"hgvs_c": "c.821G>A",
"hgvs_p": "p.Arg274Gln",
"transcript": "ENST00000960880.1",
"protein_id": "ENSP00000630939.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 310,
"cds_start": 821,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960880.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOMER2",
"gene_hgnc_id": 17513,
"hgvs_c": "c.788G>A",
"hgvs_p": "p.Arg263Gln",
"transcript": "ENST00000855502.1",
"protein_id": "ENSP00000525561.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 299,
"cds_start": 788,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855502.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOMER2",
"gene_hgnc_id": 17513,
"hgvs_c": "c.983G>A",
"hgvs_p": "p.Arg328Gln",
"transcript": "XM_006720775.4",
"protein_id": "XP_006720838.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 364,
"cds_start": 983,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006720775.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOMER2",
"gene_hgnc_id": 17513,
"hgvs_c": "c.983G>A",
"hgvs_p": "p.Arg328Gln",
"transcript": "XM_011522232.3",
"protein_id": "XP_011520534.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 364,
"cds_start": 983,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522232.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOMER2",
"gene_hgnc_id": 17513,
"hgvs_c": "c.977G>A",
"hgvs_p": "p.Arg326Gln",
"transcript": "XM_011522233.4",
"protein_id": "XP_011520535.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 362,
"cds_start": 977,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522233.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOMER2",
"gene_hgnc_id": 17513,
"hgvs_c": "c.953G>A",
"hgvs_p": "p.Arg318Gln",
"transcript": "XM_006720776.5",
"protein_id": "XP_006720839.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 354,
"cds_start": 953,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006720776.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOMER2",
"gene_hgnc_id": 17513,
"hgvs_c": "c.953G>A",
"hgvs_p": "p.Arg318Gln",
"transcript": "XM_047433355.1",
"protein_id": "XP_047289311.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 354,
"cds_start": 953,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433355.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOMER2",
"gene_hgnc_id": 17513,
"hgvs_c": "c.950G>A",
"hgvs_p": "p.Arg317Gln",
"transcript": "XM_047433356.1",
"protein_id": "XP_047289312.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 353,
"cds_start": 950,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433356.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOMER2",
"gene_hgnc_id": 17513,
"hgvs_c": "c.950G>A",
"hgvs_p": "p.Arg317Gln",
"transcript": "XM_047433357.1",
"protein_id": "XP_047289313.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 353,
"cds_start": 950,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433357.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOMER2",
"gene_hgnc_id": 17513,
"hgvs_c": "c.920G>A",
"hgvs_p": "p.Arg307Gln",
"transcript": "XM_005272449.5",
"protein_id": "XP_005272506.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 343,
"cds_start": 920,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005272449.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOMER2",
"gene_hgnc_id": 17513,
"hgvs_c": "c.920G>A",
"hgvs_p": "p.Arg307Gln",
"transcript": "XM_047433358.1",
"protein_id": "XP_047289314.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 343,
"cds_start": 920,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
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{
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{
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{
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],
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],
"gene_symbol": "HOMER2",
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"dbsnp": "rs376015771",
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"hom_count_reference_population": 0,
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"gnomad_genomes_ac": 2,
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"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14414027333259583,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.046,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.018,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
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"criteria": [
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"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_199330.3",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
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],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}