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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: 9-130494983-CGG-TTA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=130494983&ref=CGG&alt=TTA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM5",
"PP2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ASS1",
"hgnc_id": 758,
"hgvs_c": "c.1087_1089delCGGinsTTA",
"hgvs_p": "p.Arg363Leu",
"inheritance_mode": "AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_000050.4",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM5,PP2,PP3",
"acmg_score": 6,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TTA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "9",
"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": "L",
"aa_end": null,
"aa_length": 412,
"aa_ref": "R",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1532,
"cdna_start": 1127,
"cds_end": null,
"cds_length": 1239,
"cds_start": 1087,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_054012.4",
"gene_hgnc_id": 758,
"gene_symbol": "ASS1",
"hgvs_c": "c.1087_1089delCGGinsTTA",
"hgvs_p": "p.Arg363Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000352480.10",
"protein_coding": true,
"protein_id": "NP_446464.1",
"strand": true,
"transcript": "NM_054012.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 412,
"aa_ref": "R",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1532,
"cdna_start": 1127,
"cds_end": null,
"cds_length": 1239,
"cds_start": 1087,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000352480.10",
"gene_hgnc_id": 758,
"gene_symbol": "ASS1",
"hgvs_c": "c.1087_1089delCGGinsTTA",
"hgvs_p": "p.Arg363Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_054012.4",
"protein_coding": true,
"protein_id": "ENSP00000253004.6",
"strand": true,
"transcript": "ENST00000352480.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 477,
"aa_ref": "R",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1720,
"cdna_start": 1322,
"cds_end": null,
"cds_length": 1434,
"cds_start": 1282,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852201.1",
"gene_hgnc_id": 758,
"gene_symbol": "ASS1",
"hgvs_c": "c.1282_1284delCGGinsTTA",
"hgvs_p": "p.Arg428Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522260.1",
"strand": true,
"transcript": "ENST00000852201.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 453,
"aa_ref": "R",
"aa_start": 404,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1628,
"cdna_start": 1250,
"cds_end": null,
"cds_length": 1362,
"cds_start": 1210,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852207.1",
"gene_hgnc_id": 758,
"gene_symbol": "ASS1",
"hgvs_c": "c.1210_1212delCGGinsTTA",
"hgvs_p": "p.Arg404Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522266.1",
"strand": true,
"transcript": "ENST00000852207.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 416,
"aa_ref": "R",
"aa_start": 367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1588,
"cdna_start": 1180,
"cds_end": null,
"cds_length": 1251,
"cds_start": 1099,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852187.1",
"gene_hgnc_id": 758,
"gene_symbol": "ASS1",
"hgvs_c": "c.1099_1101delCGGinsTTA",
"hgvs_p": "p.Arg367Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522246.1",
"strand": true,
"transcript": "ENST00000852187.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 416,
"aa_ref": "R",
"aa_start": 367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1606,
"cdna_start": 1203,
"cds_end": null,
"cds_length": 1251,
"cds_start": 1099,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852198.1",
"gene_hgnc_id": 758,
"gene_symbol": "ASS1",
"hgvs_c": "c.1099_1101delCGGinsTTA",
"hgvs_p": "p.Arg367Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522257.1",
"strand": true,
"transcript": "ENST00000852198.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 412,
"aa_ref": "R",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1848,
"cdna_start": 1443,
"cds_end": null,
"cds_length": 1239,
"cds_start": 1087,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000050.4",
"gene_hgnc_id": 758,
"gene_symbol": "ASS1",
"hgvs_c": "c.1087_1089delCGGinsTTA",
"hgvs_p": "p.Arg363Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000041.2",
"strand": true,
"transcript": "NM_000050.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 412,
"aa_ref": "R",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1548,
"cdna_start": 1162,
"cds_end": null,
"cds_length": 1239,
"cds_start": 1087,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000372393.7",
"gene_hgnc_id": 758,
"gene_symbol": "ASS1",
"hgvs_c": "c.1087_1089delCGGinsTTA",
"hgvs_p": "p.Arg363Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000361469.2",
"strand": true,
"transcript": "ENST00000372393.7",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 412,
"aa_ref": "R",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1973,
"cdna_start": 1568,
"cds_end": null,
"cds_length": 1239,
"cds_start": 1087,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000372394.5",
"gene_hgnc_id": 758,
"gene_symbol": "ASS1",
"hgvs_c": "c.1087_1089delCGGinsTTA",
"hgvs_p": "p.Arg363Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000361471.1",
"strand": true,
"transcript": "ENST00000372394.5",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 412,
"aa_ref": "R",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2725,
"cdna_start": 1233,
"cds_end": null,
"cds_length": 1239,
"cds_start": 1087,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852176.1",
"gene_hgnc_id": 758,
"gene_symbol": "ASS1",
"hgvs_c": "c.1087_1089delCGGinsTTA",
"hgvs_p": "p.Arg363Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522235.1",
"strand": true,
"transcript": "ENST00000852176.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 412,
"aa_ref": "R",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2788,
"cdna_start": 1300,
"cds_end": null,
"cds_length": 1239,
"cds_start": 1087,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852178.1",
"gene_hgnc_id": 758,
"gene_symbol": "ASS1",
"hgvs_c": "c.1087_1089delCGGinsTTA",
"hgvs_p": "p.Arg363Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522237.1",
"strand": true,
"transcript": "ENST00000852178.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 412,
"aa_ref": "R",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2747,
"cdna_start": 1259,
"cds_end": null,
"cds_length": 1239,
"cds_start": 1087,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852179.1",
"gene_hgnc_id": 758,
"gene_symbol": "ASS1",
"hgvs_c": "c.1087_1089delCGGinsTTA",
"hgvs_p": "p.Arg363Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522238.1",
"strand": true,
"transcript": "ENST00000852179.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 412,
"aa_ref": "R",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3225,
"cdna_start": 1748,
"cds_end": null,
"cds_length": 1239,
"cds_start": 1087,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852180.1",
"gene_hgnc_id": 758,
"gene_symbol": "ASS1",
"hgvs_c": "c.1087_1089delCGGinsTTA",
"hgvs_p": "p.Arg363Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522239.1",
"strand": true,
"transcript": "ENST00000852180.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 412,
"aa_ref": "R",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1578,
"cdna_start": 1171,
"cds_end": null,
"cds_length": 1239,
"cds_start": 1087,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852181.1",
"gene_hgnc_id": 758,
"gene_symbol": "ASS1",
"hgvs_c": "c.1087_1089delCGGinsTTA",
"hgvs_p": "p.Arg363Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522240.1",
"strand": true,
"transcript": "ENST00000852181.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 412,
"aa_ref": "R",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2086,
"cdna_start": 1708,
"cds_end": null,
"cds_length": 1239,
"cds_start": 1087,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852183.1",
"gene_hgnc_id": 758,
"gene_symbol": "ASS1",
"hgvs_c": "c.1087_1089delCGGinsTTA",
"hgvs_p": "p.Arg363Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522241.1",
"strand": true,
"transcript": "ENST00000852183.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 412,
"aa_ref": "R",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1961,
"cdna_start": 1259,
"cds_end": null,
"cds_length": 1239,
"cds_start": 1087,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852185.1",
"gene_hgnc_id": 758,
"gene_symbol": "ASS1",
"hgvs_c": "c.1087_1089delCGGinsTTA",
"hgvs_p": "p.Arg363Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522244.1",
"strand": true,
"transcript": "ENST00000852185.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 412,
"aa_ref": "R",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2060,
"cdna_start": 1676,
"cds_end": null,
"cds_length": 1239,
"cds_start": 1087,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852191.1",
"gene_hgnc_id": 758,
"gene_symbol": "ASS1",
"hgvs_c": "c.1087_1089delCGGinsTTA",
"hgvs_p": "p.Arg363Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522249.1",
"strand": true,
"transcript": "ENST00000852191.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 412,
"aa_ref": "R",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1781,
"cdna_start": 1403,
"cds_end": null,
"cds_length": 1239,
"cds_start": 1087,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852193.1",
"gene_hgnc_id": 758,
"gene_symbol": "ASS1",
"hgvs_c": "c.1087_1089delCGGinsTTA",
"hgvs_p": "p.Arg363Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522251.1",
"strand": true,
"transcript": "ENST00000852193.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 412,
"aa_ref": "R",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1733,
"cdna_start": 1330,
"cds_end": null,
"cds_length": 1239,
"cds_start": 1087,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852194.1",
"gene_hgnc_id": 758,
"gene_symbol": "ASS1",
"hgvs_c": "c.1087_1089delCGGinsTTA",
"hgvs_p": "p.Arg363Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522254.1",
"strand": true,
"transcript": "ENST00000852194.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 412,
"aa_ref": "R",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1699,
"cdna_start": 1302,
"cds_end": null,
"cds_length": 1239,
"cds_start": 1087,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852199.1",
"gene_hgnc_id": 758,
"gene_symbol": "ASS1",
"hgvs_c": "c.1087_1089delCGGinsTTA",
"hgvs_p": "p.Arg363Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522258.1",
"strand": true,
"transcript": "ENST00000852199.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 412,
"aa_ref": "R",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1557,
"cdna_start": 1159,
"cds_end": null,
"cds_length": 1239,
"cds_start": 1087,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
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