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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: 20-440250-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=440250&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 440250,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_144628.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D20",
"gene_hgnc_id": 16133,
"hgvs_c": "c.766G>A",
"hgvs_p": "p.Val256Met",
"transcript": "NM_144628.4",
"protein_id": "NP_653229.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 403,
"cds_start": 766,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000354200.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144628.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D20",
"gene_hgnc_id": 16133,
"hgvs_c": "c.766G>A",
"hgvs_p": "p.Val256Met",
"transcript": "ENST00000354200.5",
"protein_id": "ENSP00000346139.4",
"transcript_support_level": 1,
"aa_start": 256,
"aa_end": null,
"aa_length": 403,
"cds_start": 766,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_144628.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354200.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D20",
"gene_hgnc_id": 16133,
"hgvs_c": "n.766G>A",
"hgvs_p": null,
"transcript": "ENST00000461304.5",
"protein_id": "ENSP00000432280.1",
"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": "ENST00000461304.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D20",
"gene_hgnc_id": 16133,
"hgvs_c": "c.862G>A",
"hgvs_p": "p.Val288Met",
"transcript": "ENST00000679895.1",
"protein_id": "ENSP00000505197.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 435,
"cds_start": 862,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679895.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D20",
"gene_hgnc_id": 16133,
"hgvs_c": "c.790G>A",
"hgvs_p": "p.Val264Met",
"transcript": "ENST00000951242.1",
"protein_id": "ENSP00000621301.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 411,
"cds_start": 790,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951242.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D20",
"gene_hgnc_id": 16133,
"hgvs_c": "c.766G>A",
"hgvs_p": "p.Val256Met",
"transcript": "ENST00000681539.1",
"protein_id": "ENSP00000505557.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 403,
"cds_start": 766,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681539.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D20",
"gene_hgnc_id": 16133,
"hgvs_c": "c.766G>A",
"hgvs_p": "p.Val256Met",
"transcript": "ENST00000893233.1",
"protein_id": "ENSP00000563292.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 396,
"cds_start": 766,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893233.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D20",
"gene_hgnc_id": 16133,
"hgvs_c": "c.694G>A",
"hgvs_p": "p.Val232Met",
"transcript": "ENST00000893231.1",
"protein_id": "ENSP00000563290.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 379,
"cds_start": 694,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893231.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D20",
"gene_hgnc_id": 16133,
"hgvs_c": "c.766G>A",
"hgvs_p": "p.Val256Met",
"transcript": "ENST00000681551.1",
"protein_id": "ENSP00000504974.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 378,
"cds_start": 766,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681551.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D20",
"gene_hgnc_id": 16133,
"hgvs_c": "c.685G>A",
"hgvs_p": "p.Val229Met",
"transcript": "ENST00000681414.1",
"protein_id": "ENSP00000505797.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 376,
"cds_start": 685,
"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": "ENST00000681414.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D20",
"gene_hgnc_id": 16133,
"hgvs_c": "c.694G>A",
"hgvs_p": "p.Val232Met",
"transcript": "ENST00000951243.1",
"protein_id": "ENSP00000621302.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 372,
"cds_start": 694,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951243.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D20",
"gene_hgnc_id": 16133,
"hgvs_c": "c.580G>A",
"hgvs_p": "p.Val194Met",
"transcript": "ENST00000680050.1",
"protein_id": "ENSP00000505464.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 341,
"cds_start": 580,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680050.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D20",
"gene_hgnc_id": 16133,
"hgvs_c": "c.580G>A",
"hgvs_p": "p.Val194Met",
"transcript": "ENST00000681129.1",
"protein_id": "ENSP00000505329.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 341,
"cds_start": 580,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681129.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D20",
"gene_hgnc_id": 16133,
"hgvs_c": "c.580G>A",
"hgvs_p": "p.Val194Met",
"transcript": "ENST00000951241.1",
"protein_id": "ENSP00000621300.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 334,
"cds_start": 580,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951241.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D20",
"gene_hgnc_id": 16133,
"hgvs_c": "c.508G>A",
"hgvs_p": "p.Val170Met",
"transcript": "ENST00000951244.1",
"protein_id": "ENSP00000621303.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 317,
"cds_start": 508,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951244.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D20",
"gene_hgnc_id": 16133,
"hgvs_c": "c.580G>A",
"hgvs_p": "p.Val194Met",
"transcript": "ENST00000893232.1",
"protein_id": "ENSP00000563291.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 316,
"cds_start": 580,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893232.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D20",
"gene_hgnc_id": 16133,
"hgvs_c": "c.499G>A",
"hgvs_p": "p.Val167Met",
"transcript": "ENST00000932929.1",
"protein_id": "ENSP00000602988.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 314,
"cds_start": 499,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932929.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D20",
"gene_hgnc_id": 16133,
"hgvs_c": "n.2006G>A",
"hgvs_p": null,
"transcript": "ENST00000461188.6",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000461188.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D20",
"gene_hgnc_id": 16133,
"hgvs_c": "n.1071G>A",
"hgvs_p": null,
"transcript": "ENST00000494633.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000494633.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D20",
"gene_hgnc_id": 16133,
"hgvs_c": "n.960G>A",
"hgvs_p": null,
"transcript": "ENST00000679451.1",
"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": "retained_intron",
"feature": "ENST00000679451.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D20",
"gene_hgnc_id": 16133,
"hgvs_c": "n.766G>A",
"hgvs_p": null,
"transcript": "ENST00000679741.1",
"protein_id": "ENSP00000504904.1",
"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",
"feature": "ENST00000679741.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000681777.1"
}
],
"gene_symbol": "TBC1D20",
"gene_hgnc_id": 16133,
"dbsnp": "rs145450605",
"frequency_reference_population": 0.00009988014,
"hom_count_reference_population": 0,
"allele_count_reference_population": 161,
"gnomad_exomes_af": 0.0000753599,
"gnomad_genomes_af": 0.000334931,
"gnomad_exomes_ac": 110,
"gnomad_genomes_ac": 51,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12878993153572083,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.7820000052452087,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.236,
"revel_prediction": "Benign",
"alphamissense_score": 0.4533,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.786,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.965887832463187,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_144628.4",
"gene_symbol": "TBC1D20",
"hgnc_id": 16133,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.766G>A",
"hgvs_p": "p.Val256Met"
}
],
"clinvar_disease": "Inborn genetic diseases,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}