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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: 3-49116600-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49116600&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 49116600,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001389594.1",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.1134G>A",
"hgvs_p": "p.Glu378Glu",
"transcript": "NM_001199161.2",
"protein_id": "NP_001186090.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 1384,
"cds_start": 1134,
"cds_end": null,
"cds_length": 4155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000417901.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199161.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.1134G>A",
"hgvs_p": "p.Glu378Glu",
"transcript": "ENST00000417901.6",
"protein_id": "ENSP00000395260.1",
"transcript_support_level": 1,
"aa_start": 378,
"aa_end": null,
"aa_length": 1384,
"cds_start": 1134,
"cds_end": null,
"cds_length": 4155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001199161.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417901.6"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.831G>A",
"hgvs_p": "p.Glu277Glu",
"transcript": "ENST00000398888.6",
"protein_id": "ENSP00000381863.2",
"transcript_support_level": 1,
"aa_start": 277,
"aa_end": null,
"aa_length": 1318,
"cds_start": 831,
"cds_end": null,
"cds_length": 3957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398888.6"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.786G>A",
"hgvs_p": "p.Glu262Glu",
"transcript": "ENST00000398896.6",
"protein_id": "ENSP00000381870.3",
"transcript_support_level": 1,
"aa_start": 262,
"aa_end": null,
"aa_length": 1268,
"cds_start": 786,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398896.6"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.1134G>A",
"hgvs_p": "p.Glu378Glu",
"transcript": "NM_001389594.1",
"protein_id": "NP_001376523.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 1421,
"cds_start": 1134,
"cds_end": null,
"cds_length": 4266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389594.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.1140G>A",
"hgvs_p": "p.Glu380Glu",
"transcript": "NM_001389595.1",
"protein_id": "NP_001376524.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 1421,
"cds_start": 1140,
"cds_end": null,
"cds_length": 4266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389595.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.1134G>A",
"hgvs_p": "p.Glu378Glu",
"transcript": "NM_001400288.1",
"protein_id": "NP_001387217.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 1421,
"cds_start": 1134,
"cds_end": null,
"cds_length": 4266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400288.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.1134G>A",
"hgvs_p": "p.Glu378Glu",
"transcript": "ENST00000692912.1",
"protein_id": "ENSP00000508993.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 1421,
"cds_start": 1134,
"cds_end": null,
"cds_length": 4266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692912.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.1131G>A",
"hgvs_p": "p.Glu377Glu",
"transcript": "NM_001351100.2",
"protein_id": "NP_001338029.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 1420,
"cds_start": 1131,
"cds_end": null,
"cds_length": 4263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351100.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.1134G>A",
"hgvs_p": "p.Glu378Glu",
"transcript": "NM_001199160.2",
"protein_id": "NP_001186089.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 1419,
"cds_start": 1134,
"cds_end": null,
"cds_length": 4260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199160.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.1134G>A",
"hgvs_p": "p.Glu378Glu",
"transcript": "ENST00000434032.6",
"protein_id": "ENSP00000401197.2",
"transcript_support_level": 2,
"aa_start": 378,
"aa_end": null,
"aa_length": 1419,
"cds_start": 1134,
"cds_end": null,
"cds_length": 4260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434032.6"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.1131G>A",
"hgvs_p": "p.Glu377Glu",
"transcript": "NM_001389602.1",
"protein_id": "NP_001376531.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 1418,
"cds_start": 1131,
"cds_end": null,
"cds_length": 4257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389602.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.1089G>A",
"hgvs_p": "p.Glu363Glu",
"transcript": "NM_001389603.1",
"protein_id": "NP_001376532.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 1406,
"cds_start": 1089,
"cds_end": null,
"cds_length": 4221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389603.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.1089G>A",
"hgvs_p": "p.Glu363Glu",
"transcript": "ENST00000306026.6",
"protein_id": "ENSP00000303503.6",
"transcript_support_level": 2,
"aa_start": 363,
"aa_end": null,
"aa_length": 1406,
"cds_start": 1089,
"cds_end": null,
"cds_length": 4221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000306026.6"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.1089G>A",
"hgvs_p": "p.Glu363Glu",
"transcript": "NM_001389601.1",
"protein_id": "NP_001376530.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 1404,
"cds_start": 1089,
"cds_end": null,
"cds_length": 4215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389601.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.1140G>A",
"hgvs_p": "p.Glu380Glu",
"transcript": "NM_001389596.1",
"protein_id": "NP_001376525.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 1386,
"cds_start": 1140,
"cds_end": null,
"cds_length": 4161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389596.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.1137G>A",
"hgvs_p": "p.Glu379Glu",
"transcript": "NM_001400290.1",
"protein_id": "NP_001387219.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 1385,
"cds_start": 1137,
"cds_end": null,
"cds_length": 4158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400290.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.1140G>A",
"hgvs_p": "p.Glu380Glu",
"transcript": "NM_001351101.2",
"protein_id": "NP_001338030.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 1384,
"cds_start": 1140,
"cds_end": null,
"cds_length": 4155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351101.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.1134G>A",
"hgvs_p": "p.Glu378Glu",
"transcript": "NM_001400292.1",
"protein_id": "NP_001387221.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 1384,
"cds_start": 1134,
"cds_end": null,
"cds_length": 4155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400292.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.1131G>A",
"hgvs_p": "p.Glu377Glu",
"transcript": "NM_001389604.1",
"protein_id": "NP_001376533.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 1383,
"cds_start": 1131,
"cds_end": null,
"cds_length": 4152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389604.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.1134G>A",
"hgvs_p": "p.Glu378Glu",
"transcript": "NM_001389598.1",
"protein_id": "NP_001376527.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 1382,
"cds_start": 1134,
"cds_end": null,
"cds_length": 4149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389598.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.1134G>A",
"hgvs_p": "p.Glu378Glu",
"transcript": "NM_001400293.1",
"protein_id": "NP_001387222.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 1382,
"cds_start": 1134,
"cds_end": null,
"cds_length": 4149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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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"gnomad_exomes_homalt": 0,
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"computational_score_selected": -0.49000000953674316,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.10000000149011612,
"splice_prediction_selected": "Benign",
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"revel_prediction": null,
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.994,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.1,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": -3,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001389594.1",
"gene_symbol": "USP19",
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"effects": [
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],
"inheritance_mode": "AD",
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"hgvs_p": "p.Glu378Glu"
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}