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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: 4-64280180-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=64280180&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 64280180,
"ref": "C",
"alt": "A",
"effect": "stop_lost",
"transcript": "ENST00000511997.1",
"consequences": [
{
"aa_ref": "*",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECRL",
"gene_hgnc_id": 27365,
"hgvs_c": "c.83G>T",
"hgvs_p": "p.Ter28Leuext*?",
"transcript": "ENST00000511997.1",
"protein_id": "ENSP00000423975.1",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 27,
"cds_start": 83,
"cds_end": null,
"cds_length": 84,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511997.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECRL",
"gene_hgnc_id": 27365,
"hgvs_c": "c.984G>T",
"hgvs_p": "p.Leu328Leu",
"transcript": "NM_001010874.5",
"protein_id": "NP_001010874.2",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 363,
"cds_start": 984,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000381210.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001010874.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECRL",
"gene_hgnc_id": 27365,
"hgvs_c": "c.984G>T",
"hgvs_p": "p.Leu328Leu",
"transcript": "ENST00000381210.8",
"protein_id": "ENSP00000370607.3",
"transcript_support_level": 1,
"aa_start": 328,
"aa_end": null,
"aa_length": 363,
"cds_start": 984,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001010874.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381210.8"
},
{
"aa_ref": "*",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECRL",
"gene_hgnc_id": 27365,
"hgvs_c": "c.938G>T",
"hgvs_p": "p.Ter313Leuext*?",
"transcript": "XM_005265665.5",
"protein_id": "XP_005265722.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 312,
"cds_start": 938,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005265665.5"
},
{
"aa_ref": "*",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECRL",
"gene_hgnc_id": 27365,
"hgvs_c": "c.893G>T",
"hgvs_p": "p.Ter298Leuext*?",
"transcript": "XM_024453962.2",
"protein_id": "XP_024309730.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 297,
"cds_start": 893,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453962.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECRL",
"gene_hgnc_id": 27365,
"hgvs_c": "c.1209G>T",
"hgvs_p": "p.Leu403Leu",
"transcript": "ENST00000941916.1",
"protein_id": "ENSP00000611975.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 438,
"cds_start": 1209,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941916.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECRL",
"gene_hgnc_id": 27365,
"hgvs_c": "c.1053G>T",
"hgvs_p": "p.Leu351Leu",
"transcript": "ENST00000941915.1",
"protein_id": "ENSP00000611974.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 386,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941915.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECRL",
"gene_hgnc_id": 27365,
"hgvs_c": "c.1008G>T",
"hgvs_p": "p.Leu336Leu",
"transcript": "ENST00000896852.1",
"protein_id": "ENSP00000566911.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 371,
"cds_start": 1008,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896852.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECRL",
"gene_hgnc_id": 27365,
"hgvs_c": "c.1008G>T",
"hgvs_p": "p.Leu336Leu",
"transcript": "ENST00000941918.1",
"protein_id": "ENSP00000611977.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 371,
"cds_start": 1008,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941918.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECRL",
"gene_hgnc_id": 27365,
"hgvs_c": "c.981G>T",
"hgvs_p": "p.Leu327Leu",
"transcript": "ENST00000896850.1",
"protein_id": "ENSP00000566909.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 362,
"cds_start": 981,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896850.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECRL",
"gene_hgnc_id": 27365,
"hgvs_c": "c.939G>T",
"hgvs_p": "p.Leu313Leu",
"transcript": "ENST00000896848.1",
"protein_id": "ENSP00000566907.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 348,
"cds_start": 939,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896848.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECRL",
"gene_hgnc_id": 27365,
"hgvs_c": "c.906G>T",
"hgvs_p": "p.Leu302Leu",
"transcript": "ENST00000941917.1",
"protein_id": "ENSP00000611976.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 337,
"cds_start": 906,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941917.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECRL",
"gene_hgnc_id": 27365,
"hgvs_c": "c.867G>T",
"hgvs_p": "p.Leu289Leu",
"transcript": "ENST00000896851.1",
"protein_id": "ENSP00000566910.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 324,
"cds_start": 867,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896851.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECRL",
"gene_hgnc_id": 27365,
"hgvs_c": "c.852G>T",
"hgvs_p": "p.Leu284Leu",
"transcript": "ENST00000896853.1",
"protein_id": "ENSP00000566912.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 319,
"cds_start": 852,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896853.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECRL",
"gene_hgnc_id": 27365,
"hgvs_c": "c.822G>T",
"hgvs_p": "p.Leu274Leu",
"transcript": "ENST00000896849.1",
"protein_id": "ENSP00000566908.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 309,
"cds_start": 822,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896849.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECRL",
"gene_hgnc_id": 27365,
"hgvs_c": "c.783G>T",
"hgvs_p": "p.Leu261Leu",
"transcript": "ENST00000941913.1",
"protein_id": "ENSP00000611972.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 296,
"cds_start": 783,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941913.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECRL",
"gene_hgnc_id": 27365,
"hgvs_c": "c.645G>T",
"hgvs_p": "p.Leu215Leu",
"transcript": "ENST00000941914.1",
"protein_id": "ENSP00000611973.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 250,
"cds_start": 645,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941914.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECRL",
"gene_hgnc_id": 27365,
"hgvs_c": "c.939G>T",
"hgvs_p": "p.Leu313Leu",
"transcript": "XM_005265662.6",
"protein_id": "XP_005265719.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 348,
"cds_start": 939,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005265662.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "TECRL",
"gene_hgnc_id": 27365,
"hgvs_c": "c.964+861G>T",
"hgvs_p": null,
"transcript": "NM_001363796.1",
"protein_id": "NP_001350725.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 326,
"cds_start": null,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363796.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "TECRL",
"gene_hgnc_id": 27365,
"hgvs_c": "c.964+861G>T",
"hgvs_p": null,
"transcript": "ENST00000507440.5",
"protein_id": "ENSP00000426043.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 326,
"cds_start": null,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507440.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TECRL",
"gene_hgnc_id": 27365,
"hgvs_c": "c.918+1294G>T",
"hgvs_p": null,
"transcript": "XM_005265664.4",
"protein_id": "XP_005265721.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 318,
"cds_start": null,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005265664.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TECRL",
"gene_hgnc_id": 27365,
"hgvs_c": "c.919+861G>T",
"hgvs_p": null,
"transcript": "XM_024453961.2",
"protein_id": "XP_024309729.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 311,
"cds_start": null,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453961.2"
}
],
"gene_symbol": "TECRL",
"gene_hgnc_id": 27365,
"dbsnp": "rs563042010",
"frequency_reference_population": 0.0000019522581,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000144421,
"gnomad_genomes_af": 0.00000658571,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3100000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.27000001072883606,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.276,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.27,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4,BP6",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 1,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PM4",
"BP6"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000511997.1",
"gene_symbol": "TECRL",
"hgnc_id": 27365,
"effects": [
"stop_lost"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.83G>T",
"hgvs_p": "p.Ter28Leuext*?"
}
],
"clinvar_disease": "Cardiovascular phenotype,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "not specified|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}