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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: 1-206935683-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=206935683&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 206935683,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002644.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGR",
"gene_hgnc_id": 8968,
"hgvs_c": "c.1181G>A",
"hgvs_p": "p.Arg394His",
"transcript": "NM_002644.4",
"protein_id": "NP_002635.2",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 764,
"cds_start": 1181,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356495.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002644.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGR",
"gene_hgnc_id": 8968,
"hgvs_c": "c.1181G>A",
"hgvs_p": "p.Arg394His",
"transcript": "ENST00000356495.5",
"protein_id": "ENSP00000348888.4",
"transcript_support_level": 1,
"aa_start": 394,
"aa_end": null,
"aa_length": 764,
"cds_start": 1181,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002644.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356495.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGR",
"gene_hgnc_id": 8968,
"hgvs_c": "c.1241G>A",
"hgvs_p": "p.Arg414His",
"transcript": "ENST00000942167.1",
"protein_id": "ENSP00000612226.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 784,
"cds_start": 1241,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942167.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGR",
"gene_hgnc_id": 8968,
"hgvs_c": "c.1181G>A",
"hgvs_p": "p.Arg394His",
"transcript": "ENST00000860528.1",
"protein_id": "ENSP00000530587.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 771,
"cds_start": 1181,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860528.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGR",
"gene_hgnc_id": 8968,
"hgvs_c": "c.1181G>A",
"hgvs_p": "p.Arg394His",
"transcript": "ENST00000860525.1",
"protein_id": "ENSP00000530584.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 764,
"cds_start": 1181,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860525.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGR",
"gene_hgnc_id": 8968,
"hgvs_c": "c.1181G>A",
"hgvs_p": "p.Arg394His",
"transcript": "ENST00000860526.1",
"protein_id": "ENSP00000530585.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 764,
"cds_start": 1181,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860526.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGR",
"gene_hgnc_id": 8968,
"hgvs_c": "c.1181G>A",
"hgvs_p": "p.Arg394His",
"transcript": "ENST00000860527.1",
"protein_id": "ENSP00000530586.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 764,
"cds_start": 1181,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860527.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGR",
"gene_hgnc_id": 8968,
"hgvs_c": "c.1181G>A",
"hgvs_p": "p.Arg394His",
"transcript": "ENST00000860531.1",
"protein_id": "ENSP00000530589.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 764,
"cds_start": 1181,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860531.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGR",
"gene_hgnc_id": 8968,
"hgvs_c": "c.1181G>A",
"hgvs_p": "p.Arg394His",
"transcript": "ENST00000860532.1",
"protein_id": "ENSP00000530590.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 764,
"cds_start": 1181,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860532.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGR",
"gene_hgnc_id": 8968,
"hgvs_c": "c.1181G>A",
"hgvs_p": "p.Arg394His",
"transcript": "ENST00000860533.1",
"protein_id": "ENSP00000530592.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 764,
"cds_start": 1181,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860533.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGR",
"gene_hgnc_id": 8968,
"hgvs_c": "c.1181G>A",
"hgvs_p": "p.Arg394His",
"transcript": "ENST00000860539.1",
"protein_id": "ENSP00000530598.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 764,
"cds_start": 1181,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860539.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGR",
"gene_hgnc_id": 8968,
"hgvs_c": "c.1181G>A",
"hgvs_p": "p.Arg394His",
"transcript": "ENST00000942162.1",
"protein_id": "ENSP00000612221.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 764,
"cds_start": 1181,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942162.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGR",
"gene_hgnc_id": 8968,
"hgvs_c": "c.1181G>A",
"hgvs_p": "p.Arg394His",
"transcript": "ENST00000942164.1",
"protein_id": "ENSP00000612223.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 764,
"cds_start": 1181,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942164.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGR",
"gene_hgnc_id": 8968,
"hgvs_c": "c.1181G>A",
"hgvs_p": "p.Arg394His",
"transcript": "ENST00000942169.1",
"protein_id": "ENSP00000612228.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 764,
"cds_start": 1181,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942169.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGR",
"gene_hgnc_id": 8968,
"hgvs_c": "c.1181G>A",
"hgvs_p": "p.Arg394His",
"transcript": "ENST00000942170.1",
"protein_id": "ENSP00000612229.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 764,
"cds_start": 1181,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942170.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGR",
"gene_hgnc_id": 8968,
"hgvs_c": "c.890G>A",
"hgvs_p": "p.Arg297His",
"transcript": "ENST00000860537.1",
"protein_id": "ENSP00000530596.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 667,
"cds_start": 890,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860537.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGR",
"gene_hgnc_id": 8968,
"hgvs_c": "c.836G>A",
"hgvs_p": "p.Arg279His",
"transcript": "ENST00000860535.1",
"protein_id": "ENSP00000530594.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 649,
"cds_start": 836,
"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": "ENST00000860535.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGR",
"gene_hgnc_id": 8968,
"hgvs_c": "c.629G>A",
"hgvs_p": "p.Arg210His",
"transcript": "ENST00000942165.1",
"protein_id": "ENSP00000612224.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 580,
"cds_start": 629,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942165.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGR",
"gene_hgnc_id": 8968,
"hgvs_c": "c.1181G>A",
"hgvs_p": "p.Arg394His",
"transcript": "ENST00000942166.1",
"protein_id": "ENSP00000612225.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 524,
"cds_start": 1181,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942166.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGR",
"gene_hgnc_id": 8968,
"hgvs_c": "c.1181G>A",
"hgvs_p": "p.Arg394His",
"transcript": "XM_011509629.2",
"protein_id": "XP_011507931.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 764,
"cds_start": 1181,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509629.2"
},
{
"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": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PIGR",
"gene_hgnc_id": 8968,
"hgvs_c": "c.1046-937G>A",
"hgvs_p": null,
"transcript": "ENST00000860529.1",
"protein_id": "ENSP00000530588.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 653,
"cds_start": null,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860529.1"
},
{
"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": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PIGR",
"gene_hgnc_id": 8968,
"hgvs_c": "c.1045+1412G>A",
"hgvs_p": null,
"transcript": "ENST00000942163.1",
"protein_id": "ENSP00000612222.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 544,
"cds_start": null,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942163.1"
},
{
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PIGR",
"gene_hgnc_id": 8968,
"hgvs_c": "c.1045+1412G>A",
"hgvs_p": null,
"transcript": "ENST00000942168.1",
"protein_id": "ENSP00000612227.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 443,
"cds_start": null,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942168.1"
}
],
"gene_symbol": "PIGR",
"gene_hgnc_id": 8968,
"dbsnp": "rs774661832",
"frequency_reference_population": 0.000013011507,
"hom_count_reference_population": 0,
"allele_count_reference_population": 21,
"gnomad_exomes_af": 0.0000116307,
"gnomad_genomes_af": 0.0000262633,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03367355465888977,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.075,
"revel_prediction": "Benign",
"alphamissense_score": 0.0736,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.925,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_002644.4",
"gene_symbol": "PIGR",
"hgnc_id": 8968,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1181G>A",
"hgvs_p": "p.Arg394His"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}