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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: 16-68329105-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=68329105&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 68329105,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001351143.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "NM_019023.5",
"protein_id": "NP_061896.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 692,
"cds_start": 322,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000441236.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019023.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "ENST00000441236.3",
"protein_id": "ENSP00000409324.2",
"transcript_support_level": 1,
"aa_start": 108,
"aa_end": null,
"aa_length": 692,
"cds_start": 322,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_019023.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441236.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.850+4273G>C",
"hgvs_p": null,
"transcript": "ENST00000567542.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000567542.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "NM_001351143.3",
"protein_id": "NP_001338072.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 713,
"cds_start": 322,
"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": "NM_001351143.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "NM_001351144.3",
"protein_id": "NP_001338073.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 693,
"cds_start": 322,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351144.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "ENST00000692632.1",
"protein_id": "ENSP00000510669.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 693,
"cds_start": 322,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692632.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "ENST00000897113.1",
"protein_id": "ENSP00000567172.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 693,
"cds_start": 322,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897113.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "ENST00000950171.1",
"protein_id": "ENSP00000620230.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 693,
"cds_start": 322,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950171.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "NM_001290018.2",
"protein_id": "NP_001276947.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 692,
"cds_start": 322,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290018.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "NM_001378018.1",
"protein_id": "NP_001364947.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 692,
"cds_start": 322,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378018.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "ENST00000339507.9",
"protein_id": "ENSP00000343103.5",
"transcript_support_level": 2,
"aa_start": 108,
"aa_end": null,
"aa_length": 692,
"cds_start": 322,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339507.9"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "ENST00000687558.1",
"protein_id": "ENSP00000509003.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 692,
"cds_start": 322,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687558.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "ENST00000692760.1",
"protein_id": "ENSP00000510748.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 692,
"cds_start": 322,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692760.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "ENST00000897111.1",
"protein_id": "ENSP00000567170.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 692,
"cds_start": 322,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897111.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "ENST00000897112.1",
"protein_id": "ENSP00000567171.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 692,
"cds_start": 322,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897112.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "ENST00000897114.1",
"protein_id": "ENSP00000567173.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 692,
"cds_start": 322,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897114.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "ENST00000897115.1",
"protein_id": "ENSP00000567174.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 692,
"cds_start": 322,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897115.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "ENST00000897118.1",
"protein_id": "ENSP00000567177.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 692,
"cds_start": 322,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897118.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "ENST00000926970.1",
"protein_id": "ENSP00000597029.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 692,
"cds_start": 322,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926970.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "ENST00000926975.1",
"protein_id": "ENSP00000597034.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 692,
"cds_start": 322,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926975.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "ENST00000950164.1",
"protein_id": "ENSP00000620223.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 692,
"cds_start": 322,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950164.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "ENST00000950163.1",
"protein_id": "ENSP00000620222.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 677,
"cds_start": 322,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950163.1"
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 5,
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"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.581+4273G>C",
"hgvs_p": null,
"transcript": "NR_165371.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_165371.1"
}
],
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"dbsnp": "rs1014959895",
"frequency_reference_population": 0.0000013693434,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136934,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14596745371818542,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.021,
"revel_prediction": "Benign",
"alphamissense_score": 0.0672,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.625,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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_001351143.3",
"gene_symbol": "PRMT7",
"hgnc_id": 25557,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}