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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: 20-33659673-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=33659673&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 33659673,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_031232.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NECAB3",
"gene_hgnc_id": 15851,
"hgvs_c": "c.703A>G",
"hgvs_p": "p.Ile235Val",
"transcript": "NM_031232.4",
"protein_id": "NP_112509.3",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 396,
"cds_start": 703,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 779,
"cdna_end": null,
"cdna_length": 2009,
"mane_select": "ENST00000246190.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031232.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NECAB3",
"gene_hgnc_id": 15851,
"hgvs_c": "c.703A>G",
"hgvs_p": "p.Ile235Val",
"transcript": "ENST00000246190.11",
"protein_id": "ENSP00000246190.6",
"transcript_support_level": 5,
"aa_start": 235,
"aa_end": null,
"aa_length": 396,
"cds_start": 703,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 779,
"cdna_end": null,
"cdna_length": 2009,
"mane_select": "NM_031232.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000246190.11"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NECAB3",
"gene_hgnc_id": 15851,
"hgvs_c": "c.703A>G",
"hgvs_p": "p.Ile235Val",
"transcript": "ENST00000375238.8",
"protein_id": "ENSP00000364386.4",
"transcript_support_level": 1,
"aa_start": 235,
"aa_end": null,
"aa_length": 362,
"cds_start": 703,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 814,
"cdna_end": null,
"cdna_length": 1942,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375238.8"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NECAB3",
"gene_hgnc_id": 15851,
"hgvs_c": "c.703A>G",
"hgvs_p": "p.Ile235Val",
"transcript": "ENST00000883747.1",
"protein_id": "ENSP00000553806.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 404,
"cds_start": 703,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 749,
"cdna_end": null,
"cdna_length": 2003,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883747.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NECAB3",
"gene_hgnc_id": 15851,
"hgvs_c": "c.703A>G",
"hgvs_p": "p.Ile235Val",
"transcript": "NM_031231.4",
"protein_id": "NP_112508.3",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 362,
"cds_start": 703,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 779,
"cdna_end": null,
"cdna_length": 1907,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031231.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NECAB3",
"gene_hgnc_id": 15851,
"hgvs_c": "c.751A>G",
"hgvs_p": "p.Ile251Val",
"transcript": "ENST00000883746.1",
"protein_id": "ENSP00000553805.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 360,
"cds_start": 751,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 823,
"cdna_end": null,
"cdna_length": 1897,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883746.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NECAB3",
"gene_hgnc_id": 15851,
"hgvs_c": "c.703A>G",
"hgvs_p": "p.Ile235Val",
"transcript": "ENST00000883745.1",
"protein_id": "ENSP00000553804.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 352,
"cds_start": 703,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 775,
"cdna_end": null,
"cdna_length": 1873,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883745.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NECAB3",
"gene_hgnc_id": 15851,
"hgvs_c": "c.703A>G",
"hgvs_p": "p.Ile235Val",
"transcript": "ENST00000606690.5",
"protein_id": "ENSP00000475420.1",
"transcript_support_level": 5,
"aa_start": 235,
"aa_end": null,
"aa_length": 296,
"cds_start": 703,
"cds_end": null,
"cds_length": 893,
"cdna_start": 710,
"cdna_end": null,
"cdna_length": 900,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000606690.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NECAB3",
"gene_hgnc_id": 15851,
"hgvs_c": "c.703A>G",
"hgvs_p": "p.Ile235Val",
"transcript": "ENST00000439478.5",
"protein_id": "ENSP00000392064.1",
"transcript_support_level": 5,
"aa_start": 235,
"aa_end": null,
"aa_length": 288,
"cds_start": 703,
"cds_end": null,
"cds_length": 868,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 925,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439478.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NECAB3",
"gene_hgnc_id": 15851,
"hgvs_c": "c.40A>G",
"hgvs_p": "p.Ile14Val",
"transcript": "ENST00000480994.5",
"protein_id": "ENSP00000475834.1",
"transcript_support_level": 5,
"aa_start": 14,
"aa_end": null,
"aa_length": 124,
"cds_start": 40,
"cds_end": null,
"cds_length": 377,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 732,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000480994.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NECAB3",
"gene_hgnc_id": 15851,
"hgvs_c": "c.703A>G",
"hgvs_p": "p.Ile235Val",
"transcript": "XM_005260510.1",
"protein_id": "XP_005260567.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 344,
"cds_start": 703,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 779,
"cdna_end": null,
"cdna_length": 1853,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005260510.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NECAB3",
"gene_hgnc_id": 15851,
"hgvs_c": "c.334A>G",
"hgvs_p": "p.Ile112Val",
"transcript": "XM_047440369.1",
"protein_id": "XP_047296325.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 273,
"cds_start": 334,
"cds_end": null,
"cds_length": 822,
"cdna_start": 857,
"cdna_end": null,
"cdna_length": 2087,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440369.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NECAB3",
"gene_hgnc_id": 15851,
"hgvs_c": "c.334A>G",
"hgvs_p": "p.Ile112Val",
"transcript": "XM_047440370.1",
"protein_id": "XP_047296326.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 239,
"cds_start": 334,
"cds_end": null,
"cds_length": 720,
"cdna_start": 857,
"cdna_end": null,
"cdna_length": 1985,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440370.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NECAB3",
"gene_hgnc_id": 15851,
"hgvs_c": "c.220A>G",
"hgvs_p": "p.Ile74Val",
"transcript": "XM_011528991.2",
"protein_id": "XP_011527293.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 201,
"cds_start": 220,
"cds_end": null,
"cds_length": 606,
"cdna_start": 1852,
"cdna_end": null,
"cdna_length": 2980,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528991.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NECAB3",
"gene_hgnc_id": 15851,
"hgvs_c": "c.220A>G",
"hgvs_p": "p.Ile74Val",
"transcript": "XM_017028016.2",
"protein_id": "XP_016883505.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 201,
"cds_start": 220,
"cds_end": null,
"cds_length": 606,
"cdna_start": 407,
"cdna_end": null,
"cdna_length": 1535,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017028016.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NECAB3",
"gene_hgnc_id": 15851,
"hgvs_c": "n.466A>G",
"hgvs_p": null,
"transcript": "ENST00000463246.5",
"protein_id": null,
"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": 766,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000463246.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NECAB3",
"gene_hgnc_id": 15851,
"hgvs_c": "n.342A>G",
"hgvs_p": null,
"transcript": "ENST00000478237.5",
"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": 827,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000478237.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NECAB3",
"gene_hgnc_id": 15851,
"hgvs_c": "n.524A>G",
"hgvs_p": null,
"transcript": "ENST00000483813.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 1277,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000483813.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NECAB3",
"gene_hgnc_id": 15851,
"hgvs_c": "n.*179A>G",
"hgvs_p": null,
"transcript": "ENST00000485399.5",
"protein_id": "ENSP00000475369.1",
"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": 1373,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000485399.5"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NECAB3",
"gene_hgnc_id": 15851,
"hgvs_c": "n.532A>G",
"hgvs_p": null,
"transcript": "ENST00000485976.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 1016,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000485976.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NECAB3",
"gene_hgnc_id": 15851,
"hgvs_c": "n.*782A>G",
"hgvs_p": null,
"transcript": "ENST00000488489.5",
"protein_id": "ENSP00000475938.1",
"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": 2142,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000488489.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NECAB3",
"gene_hgnc_id": 15851,
"hgvs_c": "n.401A>G",
"hgvs_p": null,
"transcript": "ENST00000494174.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 859,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000494174.5"
},
{
"aa_ref": null,
"aa_alt": null,
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{
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{
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{
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{
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{
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],
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"dbsnp": "rs2017398405",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
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"gnomad_exomes_ac": 17,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.447200745344162,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.186,
"revel_prediction": "Benign",
"alphamissense_score": 0.2539,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.932,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_031232.4",
"gene_symbol": "NECAB3",
"hgnc_id": 15851,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.703A>G",
"hgvs_p": "p.Ile235Val"
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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
}