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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: 6-83172033-CAT-ACG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=83172033&ref=CAT&alt=ACG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM5",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PGM3",
"hgnc_id": 8907,
"hgvs_c": "c.1351_1353delATGinsCGT",
"hgvs_p": "p.Met451Arg",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001199917.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM5,PP3",
"acmg_score": 3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "ACG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 542,
"aa_ref": "M",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6079,
"cdna_start": 1358,
"cds_end": null,
"cds_length": 1629,
"cds_start": 1267,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_015599.3",
"gene_hgnc_id": 8907,
"gene_symbol": "PGM3",
"hgvs_c": "c.1267_1269delATGinsCGT",
"hgvs_p": "p.Met423Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000513973.6",
"protein_coding": true,
"protein_id": "NP_056414.1",
"strand": false,
"transcript": "NM_015599.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 542,
"aa_ref": "M",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6079,
"cdna_start": 1358,
"cds_end": null,
"cds_length": 1629,
"cds_start": 1267,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000513973.6",
"gene_hgnc_id": 8907,
"gene_symbol": "PGM3",
"hgvs_c": "c.1267_1269delATGinsCGT",
"hgvs_p": "p.Met423Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015599.3",
"protein_coding": true,
"protein_id": "ENSP00000424874.1",
"strand": false,
"transcript": "ENST00000513973.6",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 566,
"aa_ref": "M",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2013,
"cdna_start": 1324,
"cds_end": null,
"cds_length": 1701,
"cds_start": 1267,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000512866.5",
"gene_hgnc_id": 8907,
"gene_symbol": "PGM3",
"hgvs_c": "c.1267_1269delATGinsCGT",
"hgvs_p": "p.Met423Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000421565.1",
"strand": false,
"transcript": "ENST00000512866.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 441,
"aa_ref": "M",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2223,
"cdna_start": 1153,
"cds_end": null,
"cds_length": 1326,
"cds_start": 1024,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000283977.9",
"gene_hgnc_id": 8907,
"gene_symbol": "PGM3",
"hgvs_c": "c.1024_1026delATGinsCGT",
"hgvs_p": "p.Met342Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000283977.5",
"strand": false,
"transcript": "ENST00000283977.9",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 570,
"aa_ref": "M",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6207,
"cdna_start": 1486,
"cds_end": null,
"cds_length": 1713,
"cds_start": 1351,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001199917.2",
"gene_hgnc_id": 8907,
"gene_symbol": "PGM3",
"hgvs_c": "c.1351_1353delATGinsCGT",
"hgvs_p": "p.Met451Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186846.1",
"strand": false,
"transcript": "NM_001199917.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 570,
"aa_ref": "M",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6216,
"cdna_start": 1495,
"cds_end": null,
"cds_length": 1713,
"cds_start": 1351,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001367287.1",
"gene_hgnc_id": 8907,
"gene_symbol": "PGM3",
"hgvs_c": "c.1351_1353delATGinsCGT",
"hgvs_p": "p.Met451Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354216.1",
"strand": false,
"transcript": "NM_001367287.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 570,
"aa_ref": "M",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1971,
"cdna_start": 1500,
"cds_end": null,
"cds_length": 1713,
"cds_start": 1351,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000506587.5",
"gene_hgnc_id": 8907,
"gene_symbol": "PGM3",
"hgvs_c": "c.1351_1353delATGinsCGT",
"hgvs_p": "p.Met451Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000425809.1",
"strand": false,
"transcript": "ENST00000506587.5",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 570,
"aa_ref": "M",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4518,
"cdna_start": 1523,
"cds_end": null,
"cds_length": 1713,
"cds_start": 1351,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000508748.6",
"gene_hgnc_id": 8907,
"gene_symbol": "PGM3",
"hgvs_c": "c.1351_1353delATGinsCGT",
"hgvs_p": "p.Met451Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000424865.2",
"strand": false,
"transcript": "ENST00000508748.6",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 566,
"aa_ref": "M",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2047,
"cdna_start": 1358,
"cds_end": null,
"cds_length": 1701,
"cds_start": 1267,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001199919.2",
"gene_hgnc_id": 8907,
"gene_symbol": "PGM3",
"hgvs_c": "c.1267_1269delATGinsCGT",
"hgvs_p": "p.Met423Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186848.1",
"strand": false,
"transcript": "NM_001199919.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 566,
"aa_ref": "M",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1952,
"cdna_start": 1361,
"cds_end": null,
"cds_length": 1701,
"cds_start": 1267,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000509219.2",
"gene_hgnc_id": 8907,
"gene_symbol": "PGM3",
"hgvs_c": "c.1267_1269delATGinsCGT",
"hgvs_p": "p.Met423Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423389.2",
"strand": false,
"transcript": "ENST00000509219.2",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 566,
"aa_ref": "M",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2060,
"cdna_start": 1517,
"cds_end": null,
"cds_length": 1701,
"cds_start": 1267,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000652468.1",
"gene_hgnc_id": 8907,
"gene_symbol": "PGM3",
"hgvs_c": "c.1267_1269delATGinsCGT",
"hgvs_p": "p.Met423Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499112.1",
"strand": false,
"transcript": "ENST00000652468.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 566,
"aa_ref": "M",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4403,
"cdna_start": 1396,
"cds_end": null,
"cds_length": 1701,
"cds_start": 1339,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000925376.1",
"gene_hgnc_id": 8907,
"gene_symbol": "PGM3",
"hgvs_c": "c.1339_1341delATGinsCGT",
"hgvs_p": "p.Met447Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595435.1",
"strand": false,
"transcript": "ENST00000925376.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 542,
"aa_ref": "M",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2735,
"cdna_start": 1385,
"cds_end": null,
"cds_length": 1629,
"cds_start": 1267,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000507554.2",
"gene_hgnc_id": 8907,
"gene_symbol": "PGM3",
"hgvs_c": "c.1267_1269delATGinsCGT",
"hgvs_p": "p.Met423Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000425558.2",
"strand": false,
"transcript": "ENST00000507554.2",
"transcript_support_level": 4
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 542,
"aa_ref": "M",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6048,
"cdna_start": 1330,
"cds_end": null,
"cds_length": 1629,
"cds_start": 1267,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000925371.1",
"gene_hgnc_id": 8907,
"gene_symbol": "PGM3",
"hgvs_c": "c.1267_1269delATGinsCGT",
"hgvs_p": "p.Met423Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595430.1",
"strand": false,
"transcript": "ENST00000925371.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 542,
"aa_ref": "M",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6211,
"cdna_start": 1490,
"cds_end": null,
"cds_length": 1629,
"cds_start": 1267,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000925372.1",
"gene_hgnc_id": 8907,
"gene_symbol": "PGM3",
"hgvs_c": "c.1267_1269delATGinsCGT",
"hgvs_p": "p.Met423Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595431.1",
"strand": false,
"transcript": "ENST00000925372.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 542,
"aa_ref": "M",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3247,
"cdna_start": 1434,
"cds_end": null,
"cds_length": 1629,
"cds_start": 1267,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000925377.1",
"gene_hgnc_id": 8907,
"gene_symbol": "PGM3",
"hgvs_c": "c.1267_1269delATGinsCGT",
"hgvs_p": "p.Met423Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595436.1",
"strand": false,
"transcript": "ENST00000925377.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 542,
"aa_ref": "M",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4578,
"cdna_start": 1572,
"cds_end": null,
"cds_length": 1629,
"cds_start": 1267,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941524.1",
"gene_hgnc_id": 8907,
"gene_symbol": "PGM3",
"hgvs_c": "c.1267_1269delATGinsCGT",
"hgvs_p": "p.Met423Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611583.1",
"strand": false,
"transcript": "ENST00000941524.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 542,
"aa_ref": "M",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4301,
"cdna_start": 1406,
"cds_end": null,
"cds_length": 1629,
"cds_start": 1267,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941528.1",
"gene_hgnc_id": 8907,
"gene_symbol": "PGM3",
"hgvs_c": "c.1267_1269delATGinsCGT",
"hgvs_p": "p.Met423Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611587.1",
"strand": false,
"transcript": "ENST00000941528.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 542,
"aa_ref": "M",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2806,
"cdna_start": 2123,
"cds_end": null,
"cds_length": 1629,
"cds_start": 1267,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941531.1",
"gene_hgnc_id": 8907,
"gene_symbol": "PGM3",
"hgvs_c": "c.1267_1269delATGinsCGT",
"hgvs_p": "p.Met423Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611590.1",
"strand": false,
"transcript": "ENST00000941531.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 540,
"aa_ref": "M",
"aa_start": 421,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2475,
"cdna_start": 1352,
"cds_end": null,
"cds_length": 1623,
"cds_start": 1261,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941527.1",
"gene_hgnc_id": 8907,
"gene_symbol": "PGM3",
"hgvs_c": "c.1261_1263delATGinsCGT",
"hgvs_p": "p.Met421Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611586.1",
"strand": false,
"transcript": "ENST00000941527.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 540,
"aa_ref": "M",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2042,
"cdna_start": 1365,
"cds_end": null,
"cds_length": 1623,
"cds_start": 1267,
"consequences": [
"missense_variant"
],
"exon_count": 13,
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