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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: 20-59747791-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=59747791&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 59747791,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_080672.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"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": "PHACTR3",
"gene_hgnc_id": 15833,
"hgvs_c": "c.314G>T",
"hgvs_p": "p.Arg105Leu",
"transcript": "NM_080672.5",
"protein_id": "NP_542403.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 559,
"cds_start": 314,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371015.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080672.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"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": "PHACTR3",
"gene_hgnc_id": 15833,
"hgvs_c": "c.314G>T",
"hgvs_p": "p.Arg105Leu",
"transcript": "ENST00000371015.6",
"protein_id": "ENSP00000360054.1",
"transcript_support_level": 1,
"aa_start": 105,
"aa_end": null,
"aa_length": 559,
"cds_start": 314,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_080672.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371015.6"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "PHACTR3",
"gene_hgnc_id": 15833,
"hgvs_c": "c.191G>T",
"hgvs_p": "p.Arg64Leu",
"transcript": "ENST00000395636.6",
"protein_id": "ENSP00000378998.2",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 518,
"cds_start": 191,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395636.6"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "PHACTR3",
"gene_hgnc_id": 15833,
"hgvs_c": "c.191G>T",
"hgvs_p": "p.Arg64Leu",
"transcript": "ENST00000361300.4",
"protein_id": "ENSP00000354555.4",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 448,
"cds_start": 191,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361300.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "PHACTR3",
"gene_hgnc_id": 15833,
"hgvs_c": "c.305G>T",
"hgvs_p": "p.Arg102Leu",
"transcript": "NM_001199505.1",
"protein_id": "NP_001186434.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 556,
"cds_start": 305,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199505.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "PHACTR3",
"gene_hgnc_id": 15833,
"hgvs_c": "c.305G>T",
"hgvs_p": "p.Arg102Leu",
"transcript": "ENST00000359926.7",
"protein_id": "ENSP00000353002.3",
"transcript_support_level": 2,
"aa_start": 102,
"aa_end": null,
"aa_length": 556,
"cds_start": 305,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359926.7"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "PHACTR3",
"gene_hgnc_id": 15833,
"hgvs_c": "c.191G>T",
"hgvs_p": "p.Arg64Leu",
"transcript": "NM_001199506.2",
"protein_id": "NP_001186435.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 518,
"cds_start": 191,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199506.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "PHACTR3",
"gene_hgnc_id": 15833,
"hgvs_c": "c.191G>T",
"hgvs_p": "p.Arg64Leu",
"transcript": "NM_001281507.2",
"protein_id": "NP_001268436.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 518,
"cds_start": 191,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281507.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "PHACTR3",
"gene_hgnc_id": 15833,
"hgvs_c": "c.191G>T",
"hgvs_p": "p.Arg64Leu",
"transcript": "NM_183244.2",
"protein_id": "NP_899067.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 518,
"cds_start": 191,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_183244.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "PHACTR3",
"gene_hgnc_id": 15833,
"hgvs_c": "c.191G>T",
"hgvs_p": "p.Arg64Leu",
"transcript": "ENST00000355648.8",
"protein_id": "ENSP00000347866.4",
"transcript_support_level": 2,
"aa_start": 64,
"aa_end": null,
"aa_length": 518,
"cds_start": 191,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355648.8"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "PHACTR3",
"gene_hgnc_id": 15833,
"hgvs_c": "c.191G>T",
"hgvs_p": "p.Arg64Leu",
"transcript": "ENST00000541461.5",
"protein_id": "ENSP00000442483.1",
"transcript_support_level": 2,
"aa_start": 64,
"aa_end": null,
"aa_length": 518,
"cds_start": 191,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541461.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "PHACTR3",
"gene_hgnc_id": 15833,
"hgvs_c": "c.314G>T",
"hgvs_p": "p.Arg105Leu",
"transcript": "ENST00000908180.1",
"protein_id": "ENSP00000578239.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 512,
"cds_start": 314,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908180.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "PHACTR3",
"gene_hgnc_id": 15833,
"hgvs_c": "c.191G>T",
"hgvs_p": "p.Arg64Leu",
"transcript": "NM_183246.2",
"protein_id": "NP_899069.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 448,
"cds_start": 191,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_183246.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHACTR3",
"gene_hgnc_id": 15833,
"hgvs_c": "c.314G>T",
"hgvs_p": "p.Arg105Leu",
"transcript": "ENST00000944653.1",
"protein_id": "ENSP00000614712.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 348,
"cds_start": 314,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944653.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "PHACTR3",
"gene_hgnc_id": 15833,
"hgvs_c": "c.191G>T",
"hgvs_p": "p.Arg64Leu",
"transcript": "XM_011528525.3",
"protein_id": "XP_011526827.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 518,
"cds_start": 191,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528525.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "PHACTR3",
"gene_hgnc_id": 15833,
"hgvs_c": "c.191G>T",
"hgvs_p": "p.Arg64Leu",
"transcript": "XM_017027626.3",
"protein_id": "XP_016883115.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 518,
"cds_start": 191,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027626.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "PHACTR3",
"gene_hgnc_id": 15833,
"hgvs_c": "c.191G>T",
"hgvs_p": "p.Arg64Leu",
"transcript": "XM_017027627.3",
"protein_id": "XP_016883116.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 518,
"cds_start": 191,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027627.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "PHACTR3",
"gene_hgnc_id": 15833,
"hgvs_c": "c.191G>T",
"hgvs_p": "p.Arg64Leu",
"transcript": "XM_017027631.2",
"protein_id": "XP_016883120.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 518,
"cds_start": 191,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027631.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "PHACTR3",
"gene_hgnc_id": 15833,
"hgvs_c": "c.314G>T",
"hgvs_p": "p.Arg105Leu",
"transcript": "XM_011528526.3",
"protein_id": "XP_011526828.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 489,
"cds_start": 314,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528526.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "PHACTR3",
"gene_hgnc_id": 15833,
"hgvs_c": "c.305G>T",
"hgvs_p": "p.Arg102Leu",
"transcript": "XM_017027628.2",
"protein_id": "XP_016883117.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 486,
"cds_start": 305,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027628.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "PHACTR3",
"gene_hgnc_id": 15833,
"hgvs_c": "c.191G>T",
"hgvs_p": "p.Arg64Leu",
"transcript": "XM_017027630.2",
"protein_id": "XP_016883119.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 448,
"cds_start": 191,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027630.2"
},
{
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PHACTR3",
"gene_hgnc_id": 15833,
"hgvs_c": "c.119-7391G>T",
"hgvs_p": null,
"transcript": "ENST00000908181.1",
"protein_id": "ENSP00000578240.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 479,
"cds_start": null,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908181.1"
}
],
"gene_symbol": "PHACTR3",
"gene_hgnc_id": 15833,
"dbsnp": "rs2039428587",
"frequency_reference_population": 6.8410685e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84107e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7338339686393738,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.308,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4892,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.652,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_080672.5",
"gene_symbol": "PHACTR3",
"hgnc_id": 15833,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.314G>T",
"hgvs_p": "p.Arg105Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}