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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: 21-44012534-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=44012534&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 44012534,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003274.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC10",
"gene_hgnc_id": 11868,
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Thr14Ile",
"transcript": "NM_003274.5",
"protein_id": "NP_003265.3",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 1259,
"cds_start": 41,
"cds_end": null,
"cds_length": 3780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000291574.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003274.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC10",
"gene_hgnc_id": 11868,
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Thr14Ile",
"transcript": "ENST00000291574.9",
"protein_id": "ENSP00000291574.4",
"transcript_support_level": 1,
"aa_start": 14,
"aa_end": null,
"aa_length": 1259,
"cds_start": 41,
"cds_end": null,
"cds_length": 3780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003274.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000291574.9"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC10",
"gene_hgnc_id": 11868,
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Thr14Ile",
"transcript": "ENST00000380221.7",
"protein_id": "ENSP00000369570.3",
"transcript_support_level": 1,
"aa_start": 14,
"aa_end": null,
"aa_length": 276,
"cds_start": 41,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380221.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC10",
"gene_hgnc_id": 11868,
"hgvs_c": "n.41C>T",
"hgvs_p": null,
"transcript": "ENST00000422875.5",
"protein_id": "ENSP00000402221.1",
"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": "ENST00000422875.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC10",
"gene_hgnc_id": 11868,
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Thr14Ile",
"transcript": "ENST00000915074.1",
"protein_id": "ENSP00000585133.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 1289,
"cds_start": 41,
"cds_end": null,
"cds_length": 3870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915074.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC10",
"gene_hgnc_id": 11868,
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Thr14Ile",
"transcript": "ENST00000915072.1",
"protein_id": "ENSP00000585131.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 1258,
"cds_start": 41,
"cds_end": null,
"cds_length": 3777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915072.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC10",
"gene_hgnc_id": 11868,
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Thr14Ile",
"transcript": "ENST00000887576.1",
"protein_id": "ENSP00000557635.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 1255,
"cds_start": 41,
"cds_end": null,
"cds_length": 3768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887576.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC10",
"gene_hgnc_id": 11868,
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Thr14Ile",
"transcript": "ENST00000887575.1",
"protein_id": "ENSP00000557634.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 1247,
"cds_start": 41,
"cds_end": null,
"cds_length": 3744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887575.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC10",
"gene_hgnc_id": 11868,
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Thr14Ile",
"transcript": "ENST00000887574.1",
"protein_id": "ENSP00000557633.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 1218,
"cds_start": 41,
"cds_end": null,
"cds_length": 3657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887574.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC10",
"gene_hgnc_id": 11868,
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Thr14Ile",
"transcript": "ENST00000915073.1",
"protein_id": "ENSP00000585132.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 1213,
"cds_start": 41,
"cds_end": null,
"cds_length": 3642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915073.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC10",
"gene_hgnc_id": 11868,
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Thr14Ile",
"transcript": "ENST00000915075.1",
"protein_id": "ENSP00000585134.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 1210,
"cds_start": 41,
"cds_end": null,
"cds_length": 3633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915075.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC10",
"gene_hgnc_id": 11868,
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Thr14Ile",
"transcript": "ENST00000915076.1",
"protein_id": "ENSP00000585135.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 1169,
"cds_start": 41,
"cds_end": null,
"cds_length": 3510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915076.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC10",
"gene_hgnc_id": 11868,
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Thr14Ile",
"transcript": "ENST00000915077.1",
"protein_id": "ENSP00000585136.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 1082,
"cds_start": 41,
"cds_end": null,
"cds_length": 3249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915077.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC10",
"gene_hgnc_id": 11868,
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Thr14Ile",
"transcript": "XM_011529714.3",
"protein_id": "XP_011528016.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 1296,
"cds_start": 41,
"cds_end": null,
"cds_length": 3891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529714.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC10",
"gene_hgnc_id": 11868,
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Thr14Ile",
"transcript": "XM_011529715.3",
"protein_id": "XP_011528017.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 1255,
"cds_start": 41,
"cds_end": null,
"cds_length": 3768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529715.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC10",
"gene_hgnc_id": 11868,
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Thr14Ile",
"transcript": "XM_011529716.3",
"protein_id": "XP_011528018.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 1247,
"cds_start": 41,
"cds_end": null,
"cds_length": 3744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529716.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC10",
"gene_hgnc_id": 11868,
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Thr14Ile",
"transcript": "XM_005261168.5",
"protein_id": "XP_005261225.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 1218,
"cds_start": 41,
"cds_end": null,
"cds_length": 3657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005261168.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC10",
"gene_hgnc_id": 11868,
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Thr14Ile",
"transcript": "XM_017028454.3",
"protein_id": "XP_016883943.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 1210,
"cds_start": 41,
"cds_end": null,
"cds_length": 3633,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017028454.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC10",
"gene_hgnc_id": 11868,
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Thr14Ile",
"transcript": "XM_011529717.3",
"protein_id": "XP_011528019.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 1187,
"cds_start": 41,
"cds_end": null,
"cds_length": 3564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529717.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC10",
"gene_hgnc_id": 11868,
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Thr14Ile",
"transcript": "XM_011529718.3",
"protein_id": "XP_011528020.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 1178,
"cds_start": 41,
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"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529718.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC10",
"gene_hgnc_id": 11868,
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Thr14Ile",
"transcript": "XM_011529719.3",
"protein_id": "XP_011528021.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 1148,
"cds_start": 41,
"cds_end": null,
"cds_length": 3447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529719.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC10",
"gene_hgnc_id": 11868,
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Thr14Ile",
"transcript": "XM_047440970.1",
"protein_id": "XP_047296926.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 1141,
"cds_start": 41,
"cds_end": null,
"cds_length": 3426,
"cdna_start": null,
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{
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{
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],
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"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,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.15297508239746094,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
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{
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"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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],
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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
}