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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: 19-14564841-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=14564841&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TECR",
"hgnc_id": 4551,
"hgvs_c": "c.590C>G",
"hgvs_p": "p.Pro197Arg",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001321170.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.9778,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.16,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7731845378875732,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 308,
"aa_ref": "P",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1139,
"cdna_start": 648,
"cds_end": null,
"cds_length": 927,
"cds_start": 545,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_138501.6",
"gene_hgnc_id": 4551,
"gene_symbol": "TECR",
"hgvs_c": "c.545C>G",
"hgvs_p": "p.Pro182Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000215567.10",
"protein_coding": true,
"protein_id": "NP_612510.1",
"strand": true,
"transcript": "NM_138501.6",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 308,
"aa_ref": "P",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1139,
"cdna_start": 648,
"cds_end": null,
"cds_length": 927,
"cds_start": 545,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000215567.10",
"gene_hgnc_id": 4551,
"gene_symbol": "TECR",
"hgvs_c": "c.545C>G",
"hgvs_p": "p.Pro182Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_138501.6",
"protein_coding": true,
"protein_id": "ENSP00000215567.4",
"strand": true,
"transcript": "ENST00000215567.10",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 346,
"aa_ref": "P",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1188,
"cdna_start": 699,
"cds_end": null,
"cds_length": 1041,
"cds_start": 659,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000596073.6",
"gene_hgnc_id": 4551,
"gene_symbol": "TECR",
"hgvs_c": "c.659C>G",
"hgvs_p": "p.Pro220Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000472697.2",
"strand": true,
"transcript": "ENST00000596073.6",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 375,
"aa_ref": "P",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1333,
"cdna_start": 843,
"cds_end": null,
"cds_length": 1128,
"cds_start": 746,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000971295.1",
"gene_hgnc_id": 4551,
"gene_symbol": "TECR",
"hgvs_c": "c.746C>G",
"hgvs_p": "p.Pro249Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641354.1",
"strand": true,
"transcript": "ENST00000971295.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 351,
"aa_ref": "P",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1268,
"cdna_start": 777,
"cds_end": null,
"cds_length": 1056,
"cds_start": 674,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000882755.1",
"gene_hgnc_id": 4551,
"gene_symbol": "TECR",
"hgvs_c": "c.674C>G",
"hgvs_p": "p.Pro225Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552814.1",
"strand": true,
"transcript": "ENST00000882755.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 341,
"aa_ref": "P",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1238,
"cdna_start": 747,
"cds_end": null,
"cds_length": 1026,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000882754.1",
"gene_hgnc_id": 4551,
"gene_symbol": "TECR",
"hgvs_c": "c.644C>G",
"hgvs_p": "p.Pro215Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552813.1",
"strand": true,
"transcript": "ENST00000882754.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 340,
"aa_ref": "P",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1205,
"cdna_start": 714,
"cds_end": null,
"cds_length": 1023,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000971296.1",
"gene_hgnc_id": 4551,
"gene_symbol": "TECR",
"hgvs_c": "c.641C>G",
"hgvs_p": "p.Pro214Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641355.1",
"strand": true,
"transcript": "ENST00000971296.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 323,
"aa_ref": "P",
"aa_start": 197,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1240,
"cdna_start": 749,
"cds_end": null,
"cds_length": 972,
"cds_start": 590,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001321170.1",
"gene_hgnc_id": 4551,
"gene_symbol": "TECR",
"hgvs_c": "c.590C>G",
"hgvs_p": "p.Pro197Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308099.1",
"strand": true,
"transcript": "NM_001321170.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 318,
"aa_ref": "P",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1164,
"cdna_start": 674,
"cds_end": null,
"cds_length": 957,
"cds_start": 575,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000971293.1",
"gene_hgnc_id": 4551,
"gene_symbol": "TECR",
"hgvs_c": "c.575C>G",
"hgvs_p": "p.Pro192Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641352.1",
"strand": true,
"transcript": "ENST00000971293.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 307,
"aa_ref": "P",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1138,
"cdna_start": 650,
"cds_end": null,
"cds_length": 924,
"cds_start": 545,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000882753.1",
"gene_hgnc_id": 4551,
"gene_symbol": "TECR",
"hgvs_c": "c.545C>G",
"hgvs_p": "p.Pro182Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552812.1",
"strand": true,
"transcript": "ENST00000882753.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 306,
"aa_ref": "P",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1149,
"cdna_start": 658,
"cds_end": null,
"cds_length": 921,
"cds_start": 539,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000882752.1",
"gene_hgnc_id": 4551,
"gene_symbol": "TECR",
"hgvs_c": "c.539C>G",
"hgvs_p": "p.Pro180Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552811.1",
"strand": true,
"transcript": "ENST00000882752.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 306,
"aa_ref": "P",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1174,
"cdna_start": 676,
"cds_end": null,
"cds_length": 921,
"cds_start": 539,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000913609.1",
"gene_hgnc_id": 4551,
"gene_symbol": "TECR",
"hgvs_c": "c.539C>G",
"hgvs_p": "p.Pro180Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583668.1",
"strand": true,
"transcript": "ENST00000913609.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 299,
"aa_ref": "P",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1105,
"cdna_start": 643,
"cds_end": null,
"cds_length": 900,
"cds_start": 545,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000971294.1",
"gene_hgnc_id": 4551,
"gene_symbol": "TECR",
"hgvs_c": "c.545C>G",
"hgvs_p": "p.Pro182Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641353.1",
"strand": true,
"transcript": "ENST00000971294.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 291,
"aa_ref": "P",
"aa_start": 165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1083,
"cdna_start": 593,
"cds_end": null,
"cds_length": 876,
"cds_start": 494,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000882756.1",
"gene_hgnc_id": 4551,
"gene_symbol": "TECR",
"hgvs_c": "c.494C>G",
"hgvs_p": "p.Pro165Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552815.1",
"strand": true,
"transcript": "ENST00000882756.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 279,
"aa_ref": "P",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1045,
"cdna_start": 557,
"cds_end": null,
"cds_length": 840,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000882757.1",
"gene_hgnc_id": 4551,
"gene_symbol": "TECR",
"hgvs_c": "c.458C>G",
"hgvs_p": "p.Pro153Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552816.1",
"strand": true,
"transcript": "ENST00000882757.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 275,
"aa_ref": "P",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1009,
"cdna_start": 519,
"cds_end": null,
"cds_length": 828,
"cds_start": 446,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000882758.1",
"gene_hgnc_id": 4551,
"gene_symbol": "TECR",
"hgvs_c": "c.446C>G",
"hgvs_p": "p.Pro149Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552817.1",
"strand": true,
"transcript": "ENST00000882758.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 274,
"aa_ref": "P",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1051,
"cdna_start": 662,
"cds_end": null,
"cds_length": 825,
"cds_start": 545,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000913612.1",
"gene_hgnc_id": 4551,
"gene_symbol": "TECR",
"hgvs_c": "c.545C>G",
"hgvs_p": "p.Pro182Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583671.1",
"strand": true,
"transcript": "ENST00000913612.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 269,
"aa_ref": "P",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1042,
"cdna_start": 543,
"cds_end": null,
"cds_length": 810,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000913611.1",
"gene_hgnc_id": 4551,
"gene_symbol": "TECR",
"hgvs_c": "c.428C>G",
"hgvs_p": "p.Pro143Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583670.1",
"strand": true,
"transcript": "ENST00000913611.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 150,
"aa_ref": "L",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 559,
"cdna_start": 115,
"cds_end": null,
"cds_length": 453,
"cds_start": 115,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000601187.1",
"gene_hgnc_id": 4551,
"gene_symbol": "TECR",
"hgvs_c": "c.115C>G",
"hgvs_p": "p.Leu39Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000472957.1",
"strand": true,
"transcript": "ENST00000601187.1",
"transcript_support_level": 3
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 341,
"aa_ref": "P",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1272,
"cdna_start": 781,
"cds_end": null,
"cds_length": 1026,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_006722945.3",
"gene_hgnc_id": 4551,
"gene_symbol": "TECR",
"hgvs_c": "c.644C>G",
"hgvs_p": "p.Pro215Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006723008.1",
"strand": true,
"transcript": "XM_006722945.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 329,
"aa_ref": "P",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1148,
"cdna_start": 657,
"cds_end": null,
"cds_length": 990,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011528442.3",
"gene_hgnc_id": 4551,
"gene_symbol": "TECR",
"hgvs_c": "c.608C>G",
"hgvs_p": "p.Pro203Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011526744.1",
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