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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: 3-48752260-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=48752260&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 48752260,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004157.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR2A",
"gene_hgnc_id": 9391,
"hgvs_c": "c.997G>A",
"hgvs_p": "p.Gly333Arg",
"transcript": "NM_004157.4",
"protein_id": "NP_004148.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 404,
"cds_start": 997,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265563.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004157.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR2A",
"gene_hgnc_id": 9391,
"hgvs_c": "c.997G>A",
"hgvs_p": "p.Gly333Arg",
"transcript": "ENST00000265563.13",
"protein_id": "ENSP00000265563.8",
"transcript_support_level": 1,
"aa_start": 333,
"aa_end": null,
"aa_length": 404,
"cds_start": 997,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004157.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265563.13"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR2A",
"gene_hgnc_id": 9391,
"hgvs_c": "c.931G>A",
"hgvs_p": "p.Gly311Arg",
"transcript": "ENST00000296446.12",
"protein_id": "ENSP00000296446.8",
"transcript_support_level": 1,
"aa_start": 311,
"aa_end": null,
"aa_length": 382,
"cds_start": 931,
"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": "ENST00000296446.12"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR2A",
"gene_hgnc_id": 9391,
"hgvs_c": "c.997G>A",
"hgvs_p": "p.Gly333Arg",
"transcript": "ENST00000706572.1",
"protein_id": "ENSP00000516457.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 458,
"cds_start": 997,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706572.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR2A",
"gene_hgnc_id": 9391,
"hgvs_c": "c.1072G>A",
"hgvs_p": "p.Gly358Arg",
"transcript": "ENST00000907505.1",
"protein_id": "ENSP00000577564.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 429,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907505.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR2A",
"gene_hgnc_id": 9391,
"hgvs_c": "c.997G>A",
"hgvs_p": "p.Gly333Arg",
"transcript": "NM_001321982.2",
"protein_id": "NP_001308911.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 404,
"cds_start": 997,
"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": "NM_001321982.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR2A",
"gene_hgnc_id": 9391,
"hgvs_c": "c.997G>A",
"hgvs_p": "p.Gly333Arg",
"transcript": "ENST00000454963.5",
"protein_id": "ENSP00000394041.1",
"transcript_support_level": 2,
"aa_start": 333,
"aa_end": null,
"aa_length": 404,
"cds_start": 997,
"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": "ENST00000454963.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR2A",
"gene_hgnc_id": 9391,
"hgvs_c": "c.997G>A",
"hgvs_p": "p.Gly333Arg",
"transcript": "ENST00000907504.1",
"protein_id": "ENSP00000577563.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 404,
"cds_start": 997,
"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": "ENST00000907504.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR2A",
"gene_hgnc_id": 9391,
"hgvs_c": "c.931G>A",
"hgvs_p": "p.Gly311Arg",
"transcript": "NM_001321983.2",
"protein_id": "NP_001308912.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 382,
"cds_start": 931,
"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": "NM_001321983.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR2A",
"gene_hgnc_id": 9391,
"hgvs_c": "c.913G>A",
"hgvs_p": "p.Gly305Arg",
"transcript": "NM_001321989.2",
"protein_id": "NP_001308918.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 376,
"cds_start": 913,
"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": "NM_001321989.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR2A",
"gene_hgnc_id": 9391,
"hgvs_c": "c.913G>A",
"hgvs_p": "p.Gly305Arg",
"transcript": "ENST00000706570.1",
"protein_id": "ENSP00000516455.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 376,
"cds_start": 913,
"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": "ENST00000706570.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR2A",
"gene_hgnc_id": 9391,
"hgvs_c": "c.913G>A",
"hgvs_p": "p.Gly305Arg",
"transcript": "ENST00000907506.1",
"protein_id": "ENSP00000577565.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 376,
"cds_start": 913,
"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": "ENST00000907506.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR2A",
"gene_hgnc_id": 9391,
"hgvs_c": "c.895G>A",
"hgvs_p": "p.Gly299Arg",
"transcript": "ENST00000941073.1",
"protein_id": "ENSP00000611132.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 370,
"cds_start": 895,
"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": "ENST00000941073.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR2A",
"gene_hgnc_id": 9391,
"hgvs_c": "c.58G>A",
"hgvs_p": "p.Gly20Arg",
"transcript": "ENST00000457914.5",
"protein_id": "ENSP00000409239.1",
"transcript_support_level": 3,
"aa_start": 20,
"aa_end": null,
"aa_length": 91,
"cds_start": 58,
"cds_end": null,
"cds_length": 276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457914.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR2A",
"gene_hgnc_id": 9391,
"hgvs_c": "c.997G>A",
"hgvs_p": "p.Gly333Arg",
"transcript": "XM_011533942.4",
"protein_id": "XP_011532244.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 404,
"cds_start": 997,
"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": "XM_011533942.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR2A",
"gene_hgnc_id": 9391,
"hgvs_c": "c.931G>A",
"hgvs_p": "p.Gly311Arg",
"transcript": "XM_047448543.1",
"protein_id": "XP_047304499.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 382,
"cds_start": 931,
"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": "XM_047448543.1"
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "PRKAR2A",
"gene_hgnc_id": 9391,
"hgvs_c": "c.585+4119G>A",
"hgvs_p": null,
"transcript": "ENST00000706573.1",
"protein_id": "ENSP00000516458.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 224,
"cds_start": null,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706573.1"
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PRKAR2A",
"gene_hgnc_id": 9391,
"hgvs_c": "c.463-840G>A",
"hgvs_p": null,
"transcript": "ENST00000437821.2",
"protein_id": "ENSP00000400840.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 199,
"cds_start": null,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437821.2"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PRKAR2A",
"gene_hgnc_id": 9391,
"hgvs_c": "c.244-542G>A",
"hgvs_p": null,
"transcript": "ENST00000438535.1",
"protein_id": "ENSP00000416438.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 98,
"cds_start": null,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438535.1"
},
{
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PRKAR2A",
"gene_hgnc_id": 9391,
"hgvs_c": "c.940-148G>A",
"hgvs_p": null,
"transcript": "XM_011533943.3",
"protein_id": "XP_011532245.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 349,
"cds_start": null,
"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": "XM_011533943.3"
},
{
"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": 9,
"intron_rank_end": null,
"gene_symbol": "PRKAR2A",
"gene_hgnc_id": 9391,
"hgvs_c": "c.940-542G>A",
"hgvs_p": null,
"transcript": "XM_005265315.5",
"protein_id": "XP_005265372.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 330,
"cds_start": null,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005265315.5"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR2A",
"gene_hgnc_id": 9391,
"hgvs_c": "n.*778G>A",
"hgvs_p": null,
"transcript": "ENST00000706571.1",
"protein_id": "ENSP00000516456.1",
"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": "nonsense_mediated_decay",
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{
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{
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{
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{
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"biotype": "nonsense_mediated_decay",
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],
"gene_symbol": "PRKAR2A",
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"dbsnp": "rs544709818",
"frequency_reference_population": 0.000011770828,
"hom_count_reference_population": 0,
"allele_count_reference_population": 19,
"gnomad_exomes_af": 0.00000342023,
"gnomad_genomes_af": 0.0000919407,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 14,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9024838209152222,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.903,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.956,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.46,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.893,
"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": "Likely_benign",
"acmg_criteria": "PP3_Moderate,BS2",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_004157.4",
"gene_symbol": "PRKAR2A",
"hgnc_id": 9391,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.997G>A",
"hgvs_p": "p.Gly333Arg"
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],
"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
}