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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: 19-17533639-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=17533639&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 17533639,
"ref": "C",
"alt": "T",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "NM_001321828.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIBAN3",
"gene_hgnc_id": 24130,
"hgvs_c": "c.365C>T",
"hgvs_p": "p.Thr122Met",
"transcript": "NM_001321827.2",
"protein_id": "NP_001308756.2",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 620,
"cds_start": 365,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000599164.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321827.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIBAN3",
"gene_hgnc_id": 24130,
"hgvs_c": "c.365C>T",
"hgvs_p": "p.Thr122Met",
"transcript": "ENST00000599164.6",
"protein_id": "ENSP00000469225.1",
"transcript_support_level": 2,
"aa_start": 122,
"aa_end": null,
"aa_length": 620,
"cds_start": 365,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001321827.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599164.6"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIBAN3",
"gene_hgnc_id": 24130,
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Thr153Met",
"transcript": "ENST00000335393.8",
"protein_id": "ENSP00000335040.3",
"transcript_support_level": 1,
"aa_start": 153,
"aa_end": null,
"aa_length": 697,
"cds_start": 458,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335393.8"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIBAN3",
"gene_hgnc_id": 24130,
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Thr153Met",
"transcript": "ENST00000595684.5",
"protein_id": "ENSP00000470106.1",
"transcript_support_level": 1,
"aa_start": 153,
"aa_end": null,
"aa_length": 666,
"cds_start": 458,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000595684.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIBAN3",
"gene_hgnc_id": 24130,
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Thr153Met",
"transcript": "ENST00000332386.9",
"protein_id": "ENSP00000333447.4",
"transcript_support_level": 1,
"aa_start": 153,
"aa_end": null,
"aa_length": 651,
"cds_start": 458,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000332386.9"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIBAN3",
"gene_hgnc_id": 24130,
"hgvs_c": "c.365C>T",
"hgvs_p": "p.Thr122Met",
"transcript": "ENST00000599124.1",
"protein_id": "ENSP00000470798.1",
"transcript_support_level": 1,
"aa_start": 122,
"aa_end": null,
"aa_length": 584,
"cds_start": 365,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599124.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIBAN3",
"gene_hgnc_id": 24130,
"hgvs_c": "c.-365C>T",
"hgvs_p": null,
"transcript": "NM_001321828.1",
"protein_id": "NP_001308757.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 423,
"cds_start": null,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321828.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIBAN3",
"gene_hgnc_id": 24130,
"hgvs_c": "c.-365C>T",
"hgvs_p": null,
"transcript": "ENST00000449408.6",
"protein_id": "ENSP00000394929.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 423,
"cds_start": null,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449408.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIBAN3",
"gene_hgnc_id": 24130,
"hgvs_c": "c.-365C>T",
"hgvs_p": null,
"transcript": "XM_047438389.1",
"protein_id": "XP_047294345.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 495,
"cds_start": null,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438389.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIBAN3",
"gene_hgnc_id": 24130,
"hgvs_c": "c.-365C>T",
"hgvs_p": null,
"transcript": "XM_047438390.1",
"protein_id": "XP_047294346.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 377,
"cds_start": null,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438390.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIBAN3",
"gene_hgnc_id": 24130,
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Thr153Met",
"transcript": "NM_173544.5",
"protein_id": "NP_775815.3",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 697,
"cds_start": 458,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173544.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIBAN3",
"gene_hgnc_id": 24130,
"hgvs_c": "c.365C>T",
"hgvs_p": "p.Thr122Met",
"transcript": "NM_001321826.2",
"protein_id": "NP_001308755.2",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 666,
"cds_start": 365,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321826.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIBAN3",
"gene_hgnc_id": 24130,
"hgvs_c": "c.365C>T",
"hgvs_p": "p.Thr122Met",
"transcript": "ENST00000601861.5",
"protein_id": "ENSP00000471168.1",
"transcript_support_level": 2,
"aa_start": 122,
"aa_end": null,
"aa_length": 666,
"cds_start": 365,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601861.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIBAN3",
"gene_hgnc_id": 24130,
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Thr153Met",
"transcript": "NM_001098524.2",
"protein_id": "NP_001091994.2",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 651,
"cds_start": 458,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001098524.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIBAN3",
"gene_hgnc_id": 24130,
"hgvs_c": "c.365C>T",
"hgvs_p": "p.Thr122Met",
"transcript": "NM_001363609.1",
"protein_id": "NP_001350538.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 584,
"cds_start": 365,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363609.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIBAN3",
"gene_hgnc_id": 24130,
"hgvs_c": "c.296C>T",
"hgvs_p": "p.Thr99Met",
"transcript": "ENST00000600871.5",
"protein_id": "ENSP00000471117.1",
"transcript_support_level": 5,
"aa_start": 99,
"aa_end": null,
"aa_length": 569,
"cds_start": 296,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000600871.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIBAN3",
"gene_hgnc_id": 24130,
"hgvs_c": "c.365C>T",
"hgvs_p": "p.Thr122Met",
"transcript": "XM_017026453.2",
"protein_id": "XP_016881942.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 738,
"cds_start": 365,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026453.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIBAN3",
"gene_hgnc_id": 24130,
"hgvs_c": "c.365C>T",
"hgvs_p": "p.Thr122Met",
"transcript": "XM_017026454.2",
"protein_id": "XP_016881943.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 702,
"cds_start": 365,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026454.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIBAN3",
"gene_hgnc_id": 24130,
"hgvs_c": "c.365C>T",
"hgvs_p": "p.Thr122Met",
"transcript": "XM_011527781.4",
"protein_id": "XP_011526083.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 683,
"cds_start": 365,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527781.4"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIBAN3",
"gene_hgnc_id": 24130,
"hgvs_c": "c.365C>T",
"hgvs_p": "p.Thr122Met",
"transcript": "XM_011527786.3",
"protein_id": "XP_011526088.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 591,
"cds_start": 365,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527786.3"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIBAN3",
"gene_hgnc_id": 24130,
"hgvs_c": "c.365C>T",
"hgvs_p": "p.Thr122Met",
"transcript": "XM_011527787.4",
"protein_id": "XP_011526089.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 586,
"cds_start": 365,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527787.4"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIBAN3",
"gene_hgnc_id": 24130,
"hgvs_c": "c.365C>T",
"hgvs_p": "p.Thr122Met",
"transcript": "XM_011527789.2",
"protein_id": "XP_011526091.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 519,
"cds_start": 365,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
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"mane_select": 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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"computational_prediction_selected": "Benign",
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"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.088,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
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"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001321828.1",
"gene_symbol": "NIBAN3",
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"effects": [
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"inheritance_mode": "",
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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
}