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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: 22-44802097-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=44802097&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 44802097,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_181334.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP8",
"gene_hgnc_id": 677,
"hgvs_c": "c.100C>T",
"hgvs_p": "p.Arg34Cys",
"transcript": "NM_181335.3",
"protein_id": "NP_851852.2",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 433,
"cds_start": 100,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356099.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181335.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP8",
"gene_hgnc_id": 677,
"hgvs_c": "c.100C>T",
"hgvs_p": "p.Arg34Cys",
"transcript": "ENST00000356099.11",
"protein_id": "ENSP00000348407.6",
"transcript_support_level": 1,
"aa_start": 34,
"aa_end": null,
"aa_length": 433,
"cds_start": 100,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_181335.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356099.11"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR5-ARHGAP8",
"gene_hgnc_id": 34512,
"hgvs_c": "c.862C>T",
"hgvs_p": "p.Arg288Cys",
"transcript": "ENST00000352766.11",
"protein_id": "ENSP00000262731.11",
"transcript_support_level": 2,
"aa_start": 288,
"aa_end": null,
"aa_length": 643,
"cds_start": 862,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352766.11"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP8",
"gene_hgnc_id": 677,
"hgvs_c": "c.100C>T",
"hgvs_p": "p.Arg34Cys",
"transcript": "ENST00000336963.8",
"protein_id": "ENSP00000337287.4",
"transcript_support_level": 1,
"aa_start": 34,
"aa_end": null,
"aa_length": 305,
"cds_start": 100,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336963.8"
},
{
"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": "ARHGAP8",
"gene_hgnc_id": 677,
"hgvs_c": "n.80-6210C>T",
"hgvs_p": null,
"transcript": "ENST00000389772.8",
"protein_id": "ENSP00000374422.4",
"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": "nonsense_mediated_decay",
"feature": "ENST00000389772.8"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR5-ARHGAP8",
"gene_hgnc_id": 34512,
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Arg165Cys",
"transcript": "NM_181334.6",
"protein_id": "NP_851851.3",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 564,
"cds_start": 493,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181334.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR5-ARHGAP8",
"gene_hgnc_id": 34512,
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Arg165Cys",
"transcript": "ENST00000361473.9",
"protein_id": "ENSP00000354732.5",
"transcript_support_level": 5,
"aa_start": 165,
"aa_end": null,
"aa_length": 564,
"cds_start": 493,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361473.9"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR5-ARHGAP8",
"gene_hgnc_id": 34512,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Arg87Cys",
"transcript": "ENST00000515632.2",
"protein_id": "ENSP00000425026.1",
"transcript_support_level": 2,
"aa_start": 87,
"aa_end": null,
"aa_length": 503,
"cds_start": 259,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515632.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP8",
"gene_hgnc_id": 677,
"hgvs_c": "c.100C>T",
"hgvs_p": "p.Arg34Cys",
"transcript": "ENST00000954603.1",
"protein_id": "ENSP00000624662.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 498,
"cds_start": 100,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954603.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP8",
"gene_hgnc_id": 677,
"hgvs_c": "c.100C>T",
"hgvs_p": "p.Arg34Cys",
"transcript": "ENST00000954605.1",
"protein_id": "ENSP00000624664.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 481,
"cds_start": 100,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954605.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP8",
"gene_hgnc_id": 677,
"hgvs_c": "c.100C>T",
"hgvs_p": "p.Arg34Cys",
"transcript": "ENST00000929963.1",
"protein_id": "ENSP00000600022.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 476,
"cds_start": 100,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929963.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP8",
"gene_hgnc_id": 677,
"hgvs_c": "c.100C>T",
"hgvs_p": "p.Arg34Cys",
"transcript": "ENST00000859072.1",
"protein_id": "ENSP00000529131.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 467,
"cds_start": 100,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859072.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP8",
"gene_hgnc_id": 677,
"hgvs_c": "c.100C>T",
"hgvs_p": "p.Arg34Cys",
"transcript": "NM_001017526.2",
"protein_id": "NP_001017526.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 464,
"cds_start": 100,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001017526.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP8",
"gene_hgnc_id": 677,
"hgvs_c": "c.100C>T",
"hgvs_p": "p.Arg34Cys",
"transcript": "ENST00000389774.6",
"protein_id": "ENSP00000374424.2",
"transcript_support_level": 2,
"aa_start": 34,
"aa_end": null,
"aa_length": 464,
"cds_start": 100,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389774.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP8",
"gene_hgnc_id": 677,
"hgvs_c": "c.100C>T",
"hgvs_p": "p.Arg34Cys",
"transcript": "ENST00000859080.1",
"protein_id": "ENSP00000529139.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 464,
"cds_start": 100,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859080.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP8",
"gene_hgnc_id": 677,
"hgvs_c": "c.100C>T",
"hgvs_p": "p.Arg34Cys",
"transcript": "ENST00000859071.1",
"protein_id": "ENSP00000529130.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 459,
"cds_start": 100,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859071.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP8",
"gene_hgnc_id": 677,
"hgvs_c": "c.100C>T",
"hgvs_p": "p.Arg34Cys",
"transcript": "ENST00000859074.1",
"protein_id": "ENSP00000529133.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 450,
"cds_start": 100,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859074.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP8",
"gene_hgnc_id": 677,
"hgvs_c": "c.100C>T",
"hgvs_p": "p.Arg34Cys",
"transcript": "ENST00000859083.1",
"protein_id": "ENSP00000529142.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 450,
"cds_start": 100,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859083.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP8",
"gene_hgnc_id": 677,
"hgvs_c": "c.100C>T",
"hgvs_p": "p.Arg34Cys",
"transcript": "ENST00000859073.1",
"protein_id": "ENSP00000529132.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 433,
"cds_start": 100,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859073.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP8",
"gene_hgnc_id": 677,
"hgvs_c": "c.100C>T",
"hgvs_p": "p.Arg34Cys",
"transcript": "ENST00000859076.1",
"protein_id": "ENSP00000529135.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 433,
"cds_start": 100,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859076.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP8",
"gene_hgnc_id": 677,
"hgvs_c": "c.100C>T",
"hgvs_p": "p.Arg34Cys",
"transcript": "ENST00000859077.1",
"protein_id": "ENSP00000529136.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 433,
"cds_start": 100,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859077.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP8",
"gene_hgnc_id": 677,
"hgvs_c": "c.100C>T",
"hgvs_p": "p.Arg34Cys",
"transcript": "ENST00000859078.1",
"protein_id": "ENSP00000529137.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 433,
"cds_start": 100,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"feature": "ENST00000498310.1"
}
],
"gene_symbol": "PRR5-ARHGAP8",
"gene_hgnc_id": 34512,
"dbsnp": "rs779829700",
"frequency_reference_population": 0.00001486952,
"hom_count_reference_population": 0,
"allele_count_reference_population": 24,
"gnomad_exomes_af": 0.0000157339,
"gnomad_genomes_af": 0.00000656909,
"gnomad_exomes_ac": 23,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4124828577041626,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.198,
"revel_prediction": "Benign",
"alphamissense_score": 0.2344,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.641,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_181334.6",
"gene_symbol": "PRR5-ARHGAP8",
"hgnc_id": 34512,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Arg165Cys"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001017526.2",
"gene_symbol": "ARHGAP8",
"hgnc_id": 677,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.100C>T",
"hgvs_p": "p.Arg34Cys"
}
],
"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
}