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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: 12-121420313-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=121420313&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 121420313,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_194271.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF34",
"gene_hgnc_id": 17297,
"hgvs_c": "c.705A>G",
"hgvs_p": "p.Glu235Glu",
"transcript": "NM_025126.4",
"protein_id": "NP_079402.2",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 372,
"cds_start": 705,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361234.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025126.4"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF34",
"gene_hgnc_id": 17297,
"hgvs_c": "c.705A>G",
"hgvs_p": "p.Glu235Glu",
"transcript": "ENST00000361234.10",
"protein_id": "ENSP00000355137.5",
"transcript_support_level": 1,
"aa_start": 235,
"aa_end": null,
"aa_length": 372,
"cds_start": 705,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_025126.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361234.10"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF34",
"gene_hgnc_id": 17297,
"hgvs_c": "c.705A>G",
"hgvs_p": "p.Glu235Glu",
"transcript": "ENST00000392464.3",
"protein_id": "ENSP00000376257.2",
"transcript_support_level": 5,
"aa_start": 235,
"aa_end": null,
"aa_length": 507,
"cds_start": 705,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392464.3"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF34",
"gene_hgnc_id": 17297,
"hgvs_c": "c.708A>G",
"hgvs_p": "p.Glu236Glu",
"transcript": "NM_001394208.1",
"protein_id": "NP_001381137.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 373,
"cds_start": 708,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394208.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF34",
"gene_hgnc_id": 17297,
"hgvs_c": "c.708A>G",
"hgvs_p": "p.Glu236Glu",
"transcript": "NM_194271.3",
"protein_id": "NP_919247.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 373,
"cds_start": 708,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_194271.3"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF34",
"gene_hgnc_id": 17297,
"hgvs_c": "c.708A>G",
"hgvs_p": "p.Glu236Glu",
"transcript": "ENST00000392465.7",
"protein_id": "ENSP00000376258.3",
"transcript_support_level": 5,
"aa_start": 236,
"aa_end": null,
"aa_length": 373,
"cds_start": 708,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392465.7"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF34",
"gene_hgnc_id": 17297,
"hgvs_c": "c.486A>G",
"hgvs_p": "p.Glu162Glu",
"transcript": "ENST00000867130.1",
"protein_id": "ENSP00000537189.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 299,
"cds_start": 486,
"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": "ENST00000867130.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF34",
"gene_hgnc_id": 17297,
"hgvs_c": "c.348A>G",
"hgvs_p": "p.Glu116Glu",
"transcript": "ENST00000867133.1",
"protein_id": "ENSP00000537191.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 253,
"cds_start": 348,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867133.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF34",
"gene_hgnc_id": 17297,
"hgvs_c": "c.297A>G",
"hgvs_p": "p.Glu99Glu",
"transcript": "ENST00000917689.1",
"protein_id": "ENSP00000587748.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 236,
"cds_start": 297,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917689.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF34",
"gene_hgnc_id": 17297,
"hgvs_c": "c.129A>G",
"hgvs_p": "p.Glu43Glu",
"transcript": "NM_001256858.2",
"protein_id": "NP_001243787.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 180,
"cds_start": 129,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256858.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF34",
"gene_hgnc_id": 17297,
"hgvs_c": "c.129A>G",
"hgvs_p": "p.Glu43Glu",
"transcript": "ENST00000613529.4",
"protein_id": "ENSP00000477987.1",
"transcript_support_level": 2,
"aa_start": 43,
"aa_end": null,
"aa_length": 180,
"cds_start": 129,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613529.4"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF34",
"gene_hgnc_id": 17297,
"hgvs_c": "c.78A>G",
"hgvs_p": "p.Glu26Glu",
"transcript": "ENST00000867131.1",
"protein_id": "ENSP00000537190.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 163,
"cds_start": 78,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867131.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF34",
"gene_hgnc_id": 17297,
"hgvs_c": "c.684A>G",
"hgvs_p": "p.Glu228Glu",
"transcript": "XM_024449191.2",
"protein_id": "XP_024304959.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 365,
"cds_start": 684,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449191.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF34",
"gene_hgnc_id": 17297,
"hgvs_c": "c.684A>G",
"hgvs_p": "p.Glu228Glu",
"transcript": "XM_047429564.1",
"protein_id": "XP_047285520.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 365,
"cds_start": 684,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429564.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RNF34",
"gene_hgnc_id": 17297,
"hgvs_c": "c.634-264A>G",
"hgvs_p": null,
"transcript": "ENST00000964569.1",
"protein_id": "ENSP00000634628.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 341,
"cds_start": null,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964569.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RNF34",
"gene_hgnc_id": 17297,
"hgvs_c": "c.7-3073A>G",
"hgvs_p": null,
"transcript": "ENST00000555076.1",
"protein_id": "ENSP00000452200.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 45,
"cds_start": null,
"cds_end": null,
"cds_length": 138,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555076.1"
},
{
"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": 24,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "KDM2B",
"gene_hgnc_id": 13610,
"hgvs_c": "c.3966+10029T>C",
"hgvs_p": null,
"transcript": "XM_011538867.4",
"protein_id": "XP_011537169.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1399,
"cds_start": null,
"cds_end": null,
"cds_length": 4200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538867.4"
},
{
"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": 24,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "KDM2B",
"gene_hgnc_id": 13610,
"hgvs_c": "c.3957+10029T>C",
"hgvs_p": null,
"transcript": "XM_047429681.1",
"protein_id": "XP_047285637.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1396,
"cds_start": null,
"cds_end": null,
"cds_length": 4191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429681.1"
},
{
"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": 24,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "KDM2B",
"gene_hgnc_id": 13610,
"hgvs_c": "c.3894+10029T>C",
"hgvs_p": null,
"transcript": "XM_047429682.1",
"protein_id": "XP_047285638.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1375,
"cds_start": null,
"cds_end": null,
"cds_length": 4128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429682.1"
},
{
"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": 24,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "KDM2B",
"gene_hgnc_id": 13610,
"hgvs_c": "c.3873+10029T>C",
"hgvs_p": null,
"transcript": "XM_047429683.1",
"protein_id": "XP_047285639.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1368,
"cds_start": null,
"cds_end": null,
"cds_length": 4107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429683.1"
},
{
"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": 24,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "KDM2B",
"gene_hgnc_id": 13610,
"hgvs_c": "c.3864+10029T>C",
"hgvs_p": null,
"transcript": "XM_047429684.1",
"protein_id": "XP_047285640.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1365,
"cds_start": null,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429684.1"
},
{
"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": 24,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "KDM2B",
"gene_hgnc_id": 13610,
"hgvs_c": "c.3855+10029T>C",
"hgvs_p": null,
"transcript": "XM_047429688.1",
"protein_id": "XP_047285644.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1362,
"cds_start": null,
"cds_end": null,
"cds_length": 4089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429688.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
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{
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}
],
"message": null
}