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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: 2-113942312-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=113942312&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 113942312,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_005721.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR3",
"gene_hgnc_id": 170,
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Val271Ile",
"transcript": "NM_005721.5",
"protein_id": "NP_005712.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 418,
"cds_start": 811,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263238.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005721.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR3",
"gene_hgnc_id": 170,
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Val271Ile",
"transcript": "ENST00000263238.7",
"protein_id": "ENSP00000263238.2",
"transcript_support_level": 1,
"aa_start": 271,
"aa_end": null,
"aa_length": 418,
"cds_start": 811,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005721.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263238.7"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR3",
"gene_hgnc_id": 170,
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Val271Ile",
"transcript": "ENST00000868069.1",
"protein_id": "ENSP00000538128.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 418,
"cds_start": 811,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868069.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR3",
"gene_hgnc_id": 170,
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Val271Ile",
"transcript": "ENST00000868078.1",
"protein_id": "ENSP00000538137.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 418,
"cds_start": 811,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868078.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR3",
"gene_hgnc_id": 170,
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Val271Ile",
"transcript": "ENST00000958926.1",
"protein_id": "ENSP00000628985.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 418,
"cds_start": 811,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958926.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR3",
"gene_hgnc_id": 170,
"hgvs_c": "c.808G>A",
"hgvs_p": "p.Val270Ile",
"transcript": "ENST00000868074.1",
"protein_id": "ENSP00000538133.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 417,
"cds_start": 808,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868074.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR3",
"gene_hgnc_id": 170,
"hgvs_c": "c.808G>A",
"hgvs_p": "p.Val270Ile",
"transcript": "ENST00000868077.1",
"protein_id": "ENSP00000538136.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 417,
"cds_start": 808,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868077.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR3",
"gene_hgnc_id": 170,
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Val271Ile",
"transcript": "ENST00000958927.1",
"protein_id": "ENSP00000628986.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 404,
"cds_start": 811,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958927.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR3",
"gene_hgnc_id": 170,
"hgvs_c": "c.703G>A",
"hgvs_p": "p.Val235Ile",
"transcript": "ENST00000931225.1",
"protein_id": "ENSP00000601284.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 382,
"cds_start": 703,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931225.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR3",
"gene_hgnc_id": 170,
"hgvs_c": "c.700G>A",
"hgvs_p": "p.Val234Ile",
"transcript": "ENST00000868070.1",
"protein_id": "ENSP00000538129.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 381,
"cds_start": 700,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868070.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR3",
"gene_hgnc_id": 170,
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Val271Ile",
"transcript": "ENST00000958928.1",
"protein_id": "ENSP00000628987.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 376,
"cds_start": 811,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958928.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR3",
"gene_hgnc_id": 170,
"hgvs_c": "c.667G>A",
"hgvs_p": "p.Val223Ile",
"transcript": "ENST00000868075.1",
"protein_id": "ENSP00000538134.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 370,
"cds_start": 667,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868075.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR3",
"gene_hgnc_id": 170,
"hgvs_c": "c.658G>A",
"hgvs_p": "p.Val220Ile",
"transcript": "NM_001277140.1",
"protein_id": "NP_001264069.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 367,
"cds_start": 658,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001277140.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR3",
"gene_hgnc_id": 170,
"hgvs_c": "c.658G>A",
"hgvs_p": "p.Val220Ile",
"transcript": "ENST00000535589.3",
"protein_id": "ENSP00000444987.1",
"transcript_support_level": 2,
"aa_start": 220,
"aa_end": null,
"aa_length": 367,
"cds_start": 658,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535589.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR3",
"gene_hgnc_id": 170,
"hgvs_c": "c.607G>A",
"hgvs_p": "p.Val203Ile",
"transcript": "ENST00000868076.1",
"protein_id": "ENSP00000538135.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 350,
"cds_start": 607,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868076.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR3",
"gene_hgnc_id": 170,
"hgvs_c": "c.604G>A",
"hgvs_p": "p.Val202Ile",
"transcript": "ENST00000931226.1",
"protein_id": "ENSP00000601285.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 349,
"cds_start": 604,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931226.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR3",
"gene_hgnc_id": 170,
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Val271Ile",
"transcript": "ENST00000868073.1",
"protein_id": "ENSP00000538132.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 345,
"cds_start": 811,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868073.1"
},
{
"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": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ACTR3",
"gene_hgnc_id": 170,
"hgvs_c": "c.684+2210G>A",
"hgvs_p": null,
"transcript": "ENST00000868072.1",
"protein_id": "ENSP00000538131.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 360,
"cds_start": null,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868072.1"
},
{
"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": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ACTR3",
"gene_hgnc_id": 170,
"hgvs_c": "c.636+2258G>A",
"hgvs_p": null,
"transcript": "ENST00000868079.1",
"protein_id": "ENSP00000538138.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 344,
"cds_start": null,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868079.1"
},
{
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ACTR3",
"gene_hgnc_id": 170,
"hgvs_c": "c.540+7926G>A",
"hgvs_p": null,
"transcript": "ENST00000868071.1",
"protein_id": "ENSP00000538130.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 312,
"cds_start": null,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868071.1"
},
{
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ACTR3",
"gene_hgnc_id": 170,
"hgvs_c": "c.226-9167G>A",
"hgvs_p": null,
"transcript": "ENST00000958925.1",
"protein_id": "ENSP00000628984.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 207,
"cds_start": null,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958925.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR3",
"gene_hgnc_id": 170,
"hgvs_c": "n.1032G>A",
"hgvs_p": null,
"transcript": "NR_102318.1",
"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_102318.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR3",
"gene_hgnc_id": 170,
"hgvs_c": "n.*560G>A",
"hgvs_p": null,
"transcript": "ENST00000446821.5",
"protein_id": "ENSP00000394213.1",
"transcript_support_level": 3,
"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": "ENST00000446821.5"
}
],
"gene_symbol": "ACTR3",
"gene_hgnc_id": 170,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5026655793190002,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.503,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1323,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.114,
"phylop100way_prediction": "Pathogenic",
"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_005721.5",
"gene_symbol": "ACTR3",
"hgnc_id": 170,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Val271Ile"
}
],
"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
}