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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: 19-2757775-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=2757775&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SGTA",
"hgnc_id": 10819,
"hgvs_c": "c.745G>C",
"hgvs_p": "p.Gly249Arg",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_003021.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.6518,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.14,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8592379689216614,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 313,
"aa_ref": "G",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2231,
"cdna_start": 809,
"cds_end": null,
"cds_length": 942,
"cds_start": 745,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_003021.4",
"gene_hgnc_id": 10819,
"gene_symbol": "SGTA",
"hgvs_c": "c.745G>C",
"hgvs_p": "p.Gly249Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000221566.7",
"protein_coding": true,
"protein_id": "NP_003012.1",
"strand": false,
"transcript": "NM_003021.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 313,
"aa_ref": "G",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2231,
"cdna_start": 809,
"cds_end": null,
"cds_length": 942,
"cds_start": 745,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000221566.7",
"gene_hgnc_id": 10819,
"gene_symbol": "SGTA",
"hgvs_c": "c.745G>C",
"hgvs_p": "p.Gly249Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003021.4",
"protein_coding": true,
"protein_id": "ENSP00000221566.1",
"strand": false,
"transcript": "ENST00000221566.7",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 360,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2227,
"cdna_start": 825,
"cds_end": null,
"cds_length": 1083,
"cds_start": 707,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000677562.1",
"gene_hgnc_id": 10819,
"gene_symbol": "SGTA",
"hgvs_c": "c.707G>C",
"hgvs_p": "p.Arg236Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504146.1",
"strand": false,
"transcript": "ENST00000677562.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 335,
"aa_ref": "G",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2336,
"cdna_start": 916,
"cds_end": null,
"cds_length": 1008,
"cds_start": 811,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000927733.1",
"gene_hgnc_id": 10819,
"gene_symbol": "SGTA",
"hgvs_c": "c.811G>C",
"hgvs_p": "p.Gly271Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597792.1",
"strand": false,
"transcript": "ENST00000927733.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 313,
"aa_ref": "G",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2854,
"cdna_start": 1440,
"cds_end": null,
"cds_length": 942,
"cds_start": 745,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000676943.1",
"gene_hgnc_id": 10819,
"gene_symbol": "SGTA",
"hgvs_c": "c.745G>C",
"hgvs_p": "p.Gly249Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504495.1",
"strand": false,
"transcript": "ENST00000676943.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 313,
"aa_ref": "G",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2471,
"cdna_start": 1047,
"cds_end": null,
"cds_length": 942,
"cds_start": 745,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000897082.1",
"gene_hgnc_id": 10819,
"gene_symbol": "SGTA",
"hgvs_c": "c.745G>C",
"hgvs_p": "p.Gly249Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567141.1",
"strand": false,
"transcript": "ENST00000897082.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 313,
"aa_ref": "G",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2651,
"cdna_start": 1229,
"cds_end": null,
"cds_length": 942,
"cds_start": 745,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000897083.1",
"gene_hgnc_id": 10819,
"gene_symbol": "SGTA",
"hgvs_c": "c.745G>C",
"hgvs_p": "p.Gly249Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567142.1",
"strand": false,
"transcript": "ENST00000897083.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 313,
"aa_ref": "G",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2408,
"cdna_start": 982,
"cds_end": null,
"cds_length": 942,
"cds_start": 745,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000897085.1",
"gene_hgnc_id": 10819,
"gene_symbol": "SGTA",
"hgvs_c": "c.745G>C",
"hgvs_p": "p.Gly249Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567144.1",
"strand": false,
"transcript": "ENST00000897085.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 313,
"aa_ref": "G",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2539,
"cdna_start": 1118,
"cds_end": null,
"cds_length": 942,
"cds_start": 745,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000897086.1",
"gene_hgnc_id": 10819,
"gene_symbol": "SGTA",
"hgvs_c": "c.745G>C",
"hgvs_p": "p.Gly249Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567145.1",
"strand": false,
"transcript": "ENST00000897086.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 313,
"aa_ref": "G",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2660,
"cdna_start": 1238,
"cds_end": null,
"cds_length": 942,
"cds_start": 745,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000897087.1",
"gene_hgnc_id": 10819,
"gene_symbol": "SGTA",
"hgvs_c": "c.745G>C",
"hgvs_p": "p.Gly249Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567146.1",
"strand": false,
"transcript": "ENST00000897087.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 313,
"aa_ref": "G",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2474,
"cdna_start": 1049,
"cds_end": null,
"cds_length": 942,
"cds_start": 745,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000927731.1",
"gene_hgnc_id": 10819,
"gene_symbol": "SGTA",
"hgvs_c": "c.745G>C",
"hgvs_p": "p.Gly249Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597790.1",
"strand": false,
"transcript": "ENST00000927731.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 313,
"aa_ref": "G",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2344,
"cdna_start": 922,
"cds_end": null,
"cds_length": 942,
"cds_start": 745,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000927732.1",
"gene_hgnc_id": 10819,
"gene_symbol": "SGTA",
"hgvs_c": "c.745G>C",
"hgvs_p": "p.Gly249Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597791.1",
"strand": false,
"transcript": "ENST00000927732.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 313,
"aa_ref": "G",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3666,
"cdna_start": 839,
"cds_end": null,
"cds_length": 942,
"cds_start": 745,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000927735.1",
"gene_hgnc_id": 10819,
"gene_symbol": "SGTA",
"hgvs_c": "c.745G>C",
"hgvs_p": "p.Gly249Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597794.1",
"strand": false,
"transcript": "ENST00000927735.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 313,
"aa_ref": "G",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2278,
"cdna_start": 833,
"cds_end": null,
"cds_length": 942,
"cds_start": 745,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000927736.1",
"gene_hgnc_id": 10819,
"gene_symbol": "SGTA",
"hgvs_c": "c.745G>C",
"hgvs_p": "p.Gly249Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597795.1",
"strand": false,
"transcript": "ENST00000927736.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 313,
"aa_ref": "G",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2281,
"cdna_start": 857,
"cds_end": null,
"cds_length": 942,
"cds_start": 745,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000927738.1",
"gene_hgnc_id": 10819,
"gene_symbol": "SGTA",
"hgvs_c": "c.745G>C",
"hgvs_p": "p.Gly249Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597797.1",
"strand": false,
"transcript": "ENST00000927738.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 313,
"aa_ref": "G",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2324,
"cdna_start": 904,
"cds_end": null,
"cds_length": 942,
"cds_start": 745,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000927739.1",
"gene_hgnc_id": 10819,
"gene_symbol": "SGTA",
"hgvs_c": "c.745G>C",
"hgvs_p": "p.Gly249Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597798.1",
"strand": false,
"transcript": "ENST00000927739.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 313,
"aa_ref": "G",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2222,
"cdna_start": 796,
"cds_end": null,
"cds_length": 942,
"cds_start": 745,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000927740.1",
"gene_hgnc_id": 10819,
"gene_symbol": "SGTA",
"hgvs_c": "c.745G>C",
"hgvs_p": "p.Gly249Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597799.1",
"strand": false,
"transcript": "ENST00000927740.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 313,
"aa_ref": "G",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2298,
"cdna_start": 883,
"cds_end": null,
"cds_length": 942,
"cds_start": 745,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000927741.1",
"gene_hgnc_id": 10819,
"gene_symbol": "SGTA",
"hgvs_c": "c.745G>C",
"hgvs_p": "p.Gly249Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597800.1",
"strand": false,
"transcript": "ENST00000927741.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 313,
"aa_ref": "G",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2239,
"cdna_start": 817,
"cds_end": null,
"cds_length": 942,
"cds_start": 745,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000952639.1",
"gene_hgnc_id": 10819,
"gene_symbol": "SGTA",
"hgvs_c": "c.745G>C",
"hgvs_p": "p.Gly249Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622698.1",
"strand": false,
"transcript": "ENST00000952639.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 313,
"aa_ref": "G",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2574,
"cdna_start": 1149,
"cds_end": null,
"cds_length": 942,
"cds_start": 745,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000952640.1",
"gene_hgnc_id": 10819,
"gene_symbol": "SGTA",
"hgvs_c": "c.745G>C",
"hgvs_p": "p.Gly249Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622699.1",
"strand": false,
"transcript": "ENST00000952640.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 313,
"aa_ref": "G",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2275,
"cdna_start": 853,
"cds_end": null,
"cds_length": 942,
"cds_start": 745,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000952641.1",
"gene_hgnc_id": 10819,
"gene_symbol": "SGTA",
"hgvs_c": "c.745G>C",
"hgvs_p": "p.Gly249Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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