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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: 1-243505296-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=243505296&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 243505296,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000673466.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.1393C>T",
"hgvs_p": "p.Arg465Trp",
"transcript": "NM_005465.7",
"protein_id": "NP_005456.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 479,
"cds_start": 1393,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1709,
"cdna_end": null,
"cdna_length": 7281,
"mane_select": "ENST00000673466.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.1393C>T",
"hgvs_p": "p.Arg465Trp",
"transcript": "ENST00000673466.1",
"protein_id": "ENSP00000500582.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 479,
"cds_start": 1393,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1709,
"cdna_end": null,
"cdna_length": 7281,
"mane_select": "NM_005465.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.1393C>T",
"hgvs_p": "p.Arg465Trp",
"transcript": "ENST00000263826.12",
"protein_id": "ENSP00000263826.5",
"transcript_support_level": 1,
"aa_start": 465,
"aa_end": null,
"aa_length": 479,
"cds_start": 1393,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1536,
"cdna_end": null,
"cdna_length": 1583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.1355-5510C>T",
"hgvs_p": null,
"transcript": "ENST00000336199.9",
"protein_id": "ENSP00000336943.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 465,
"cds_start": -4,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.1355-5510C>T",
"hgvs_p": null,
"transcript": "ENST00000366540.5",
"protein_id": "ENSP00000355498.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 465,
"cds_start": -4,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.1393C>T",
"hgvs_p": "p.Arg465Trp",
"transcript": "NM_001370074.1",
"protein_id": "NP_001357003.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 479,
"cds_start": 1393,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1536,
"cdna_end": null,
"cdna_length": 7108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.1324C>T",
"hgvs_p": "p.Arg442Trp",
"transcript": "ENST00000366539.6",
"protein_id": "ENSP00000355497.2",
"transcript_support_level": 5,
"aa_start": 442,
"aa_end": null,
"aa_length": 456,
"cds_start": 1324,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 1467,
"cdna_end": null,
"cdna_length": 4967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.1267C>T",
"hgvs_p": "p.Arg423Trp",
"transcript": "ENST00000680056.1",
"protein_id": "ENSP00000505337.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 437,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1267,
"cdna_end": null,
"cdna_length": 1314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.1210C>T",
"hgvs_p": "p.Arg404Trp",
"transcript": "ENST00000672578.1",
"protein_id": "ENSP00000500597.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 418,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1411,
"cdna_end": null,
"cdna_length": 4925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.1210C>T",
"hgvs_p": "p.Arg404Trp",
"transcript": "XM_047417359.1",
"protein_id": "XP_047273315.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 418,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 3907,
"cdna_end": null,
"cdna_length": 9479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.1210C>T",
"hgvs_p": "p.Arg404Trp",
"transcript": "XM_047419186.1",
"protein_id": "XP_047275142.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 418,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 2808,
"cdna_end": null,
"cdna_length": 8380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.1210C>T",
"hgvs_p": "p.Arg404Trp",
"transcript": "XM_047420641.1",
"protein_id": "XP_047276597.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 418,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1713,
"cdna_end": null,
"cdna_length": 7285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.1210C>T",
"hgvs_p": "p.Arg404Trp",
"transcript": "XM_047422391.1",
"protein_id": "XP_047278347.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 418,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1753,
"cdna_end": null,
"cdna_length": 7325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.1210C>T",
"hgvs_p": "p.Arg404Trp",
"transcript": "XM_047424332.1",
"protein_id": "XP_047280288.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 418,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 4021,
"cdna_end": null,
"cdna_length": 9593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.703C>T",
"hgvs_p": "p.Arg235Trp",
"transcript": "XM_011544014.3",
"protein_id": "XP_011542316.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 249,
"cds_start": 703,
"cds_end": null,
"cds_length": 750,
"cdna_start": 910,
"cdna_end": null,
"cdna_length": 6482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "n.1150C>T",
"hgvs_p": null,
"transcript": "ENST00000672460.1",
"protein_id": "ENSP00000499842.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "n.2404C>T",
"hgvs_p": null,
"transcript": "ENST00000679831.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "n.1393C>T",
"hgvs_p": null,
"transcript": "ENST00000680118.1",
"protein_id": "ENSP00000505276.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "n.281C>T",
"hgvs_p": null,
"transcript": "ENST00000681055.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "n.*608C>T",
"hgvs_p": null,
"transcript": "ENST00000681794.1",
"protein_id": "ENSP00000506399.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "n.*608C>T",
"hgvs_p": null,
"transcript": "ENST00000681794.1",
"protein_id": "ENSP00000506399.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.1355-5510C>T",
"hgvs_p": null,
"transcript": "NM_001206729.2",
"protein_id": "NP_001193658.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 465,
"cds_start": -4,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.1355-5510C>T",
"hgvs_p": null,
"transcript": "NM_181690.2",
"protein_id": "NP_859029.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 465,
"cds_start": -4,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"dbsnp": "rs587776935",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7413887977600098,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.402,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5928,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.19,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.588,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.05,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PP2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PM2",
"PP2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000673466.1",
"gene_symbol": "AKT3",
"hgnc_id": 393,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1393C>T",
"hgvs_p": "p.Arg465Trp"
}
],
"clinvar_disease": "AKT3-related disorder,Capillary hemangioma,Global developmental delay,Inborn genetic diseases,Macrocephaly,Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2,Neoplasm,Polymicrogyria,See cases,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:10 LP:2 US:1 O:1",
"phenotype_combined": "Polymicrogyria;Capillary hemangioma;Global developmental delay;Macrocephaly|Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2|See cases|not provided|Inborn genetic diseases|AKT3-related disorder|Neoplasm",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}