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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: 8-23007710-CGG-GGC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=23007710&ref=CGG&alt=GGC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS1_Very_Strong",
"PM1",
"PM5",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RHOBTB2",
"hgnc_id": 18756,
"hgvs_c": "c.1531_1533delCGGinsGGC",
"hgvs_p": "p.Arg511Gly",
"inheritance_mode": "AD,AR",
"pathogenic_score": 13,
"score": 13,
"transcript": "NM_001160036.2",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "RHOBTB2-AS1",
"hgnc_id": 58239,
"hgvs_c": "n.614_616delCCGinsGCC",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 1,
"score": 1,
"transcript": "ENST00000502083.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS1_Very_Strong,PM1,PM5,PP3",
"acmg_score": 13,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GGC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "8",
"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": "G",
"aa_end": null,
"aa_length": 727,
"aa_ref": "R",
"aa_start": 489,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5482,
"cdna_start": 2033,
"cds_end": null,
"cds_length": 2184,
"cds_start": 1465,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_015178.3",
"gene_hgnc_id": 18756,
"gene_symbol": "RHOBTB2",
"hgvs_c": "c.1465_1467delCGGinsGGC",
"hgvs_p": "p.Arg489Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000251822.7",
"protein_coding": true,
"protein_id": "NP_055993.2",
"strand": true,
"transcript": "NM_015178.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 727,
"aa_ref": "R",
"aa_start": 489,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5482,
"cdna_start": 2033,
"cds_end": null,
"cds_length": 2184,
"cds_start": 1465,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000251822.7",
"gene_hgnc_id": 18756,
"gene_symbol": "RHOBTB2",
"hgvs_c": "c.1465_1467delCGGinsGGC",
"hgvs_p": "p.Arg489Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015178.3",
"protein_coding": true,
"protein_id": "ENSP00000251822.7",
"strand": true,
"transcript": "ENST00000251822.7",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 749,
"aa_ref": "R",
"aa_start": 511,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3505,
"cdna_start": 1814,
"cds_end": null,
"cds_length": 2250,
"cds_start": 1531,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000519685.5",
"gene_hgnc_id": 18756,
"gene_symbol": "RHOBTB2",
"hgvs_c": "c.1531_1533delCGGinsGGC",
"hgvs_p": "p.Arg511Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000427926.1",
"strand": true,
"transcript": "ENST00000519685.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1945,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000502083.2",
"gene_hgnc_id": 58239,
"gene_symbol": "RHOBTB2-AS1",
"hgvs_c": "n.614_616delCCGinsGCC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000502083.2",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 749,
"aa_ref": "R",
"aa_start": 511,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5429,
"cdna_start": 1980,
"cds_end": null,
"cds_length": 2250,
"cds_start": 1531,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001160036.2",
"gene_hgnc_id": 18756,
"gene_symbol": "RHOBTB2",
"hgvs_c": "c.1531_1533delCGGinsGGC",
"hgvs_p": "p.Arg511Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001153508.1",
"strand": true,
"transcript": "NM_001160036.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 736,
"aa_ref": "R",
"aa_start": 498,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5551,
"cdna_start": 1792,
"cds_end": null,
"cds_length": 2211,
"cds_start": 1492,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000692529.1",
"gene_hgnc_id": 18756,
"gene_symbol": "RHOBTB2",
"hgvs_c": "c.1492_1494delCGGinsGGC",
"hgvs_p": "p.Arg498Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509630.1",
"strand": true,
"transcript": "ENST00000692529.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 734,
"aa_ref": "R",
"aa_start": 496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4966,
"cdna_start": 1517,
"cds_end": null,
"cds_length": 2205,
"cds_start": 1486,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001160037.2",
"gene_hgnc_id": 18756,
"gene_symbol": "RHOBTB2",
"hgvs_c": "c.1486_1488delCGGinsGGC",
"hgvs_p": "p.Arg496Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001153509.1",
"strand": true,
"transcript": "NM_001160037.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 734,
"aa_ref": "R",
"aa_start": 496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4959,
"cdna_start": 1517,
"cds_end": null,
"cds_length": 2205,
"cds_start": 1486,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000522948.5",
"gene_hgnc_id": 18756,
"gene_symbol": "RHOBTB2",
"hgvs_c": "c.1486_1488delCGGinsGGC",
"hgvs_p": "p.Arg496Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429141.1",
"strand": true,
"transcript": "ENST00000522948.5",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 727,
"aa_ref": "R",
"aa_start": 489,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5242,
"cdna_start": 1793,
"cds_end": null,
"cds_length": 2184,
"cds_start": 1465,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001374791.1",
"gene_hgnc_id": 18756,
"gene_symbol": "RHOBTB2",
"hgvs_c": "c.1465_1467delCGGinsGGC",
"hgvs_p": "p.Arg489Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361720.1",
"strand": true,
"transcript": "NM_001374791.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 727,
"aa_ref": "R",
"aa_start": 489,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3218,
"cdna_start": 1612,
"cds_end": null,
"cds_length": 2184,
"cds_start": 1465,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000867414.1",
"gene_hgnc_id": 18756,
"gene_symbol": "RHOBTB2",
"hgvs_c": "c.1465_1467delCGGinsGGC",
"hgvs_p": "p.Arg489Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537473.1",
"strand": true,
"transcript": "ENST00000867414.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 727,
"aa_ref": "R",
"aa_start": 489,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6270,
"cdna_start": 2297,
"cds_end": null,
"cds_length": 2184,
"cds_start": 1465,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000867415.1",
"gene_hgnc_id": 18756,
"gene_symbol": "RHOBTB2",
"hgvs_c": "c.1465_1467delCGGinsGGC",
"hgvs_p": "p.Arg489Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537474.1",
"strand": true,
"transcript": "ENST00000867415.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 727,
"aa_ref": "R",
"aa_start": 489,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3388,
"cdna_start": 1716,
"cds_end": null,
"cds_length": 2184,
"cds_start": 1465,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000867416.1",
"gene_hgnc_id": 18756,
"gene_symbol": "RHOBTB2",
"hgvs_c": "c.1465_1467delCGGinsGGC",
"hgvs_p": "p.Arg489Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537475.1",
"strand": true,
"transcript": "ENST00000867416.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 727,
"aa_ref": "R",
"aa_start": 489,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3308,
"cdna_start": 1636,
"cds_end": null,
"cds_length": 2184,
"cds_start": 1465,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000867417.1",
"gene_hgnc_id": 18756,
"gene_symbol": "RHOBTB2",
"hgvs_c": "c.1465_1467delCGGinsGGC",
"hgvs_p": "p.Arg489Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537476.1",
"strand": true,
"transcript": "ENST00000867417.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 727,
"aa_ref": "R",
"aa_start": 489,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3457,
"cdna_start": 1767,
"cds_end": null,
"cds_length": 2184,
"cds_start": 1465,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000867418.1",
"gene_hgnc_id": 18756,
"gene_symbol": "RHOBTB2",
"hgvs_c": "c.1465_1467delCGGinsGGC",
"hgvs_p": "p.Arg489Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537477.1",
"strand": true,
"transcript": "ENST00000867418.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 727,
"aa_ref": "R",
"aa_start": 489,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3642,
"cdna_start": 2012,
"cds_end": null,
"cds_length": 2184,
"cds_start": 1465,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000946113.1",
"gene_hgnc_id": 18756,
"gene_symbol": "RHOBTB2",
"hgvs_c": "c.1465_1467delCGGinsGGC",
"hgvs_p": "p.Arg489Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616172.1",
"strand": true,
"transcript": "ENST00000946113.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 727,
"aa_ref": "R",
"aa_start": 489,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5376,
"cdna_start": 1931,
"cds_end": null,
"cds_length": 2184,
"cds_start": 1465,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000946114.1",
"gene_hgnc_id": 18756,
"gene_symbol": "RHOBTB2",
"hgvs_c": "c.1465_1467delCGGinsGGC",
"hgvs_p": "p.Arg489Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616173.1",
"strand": true,
"transcript": "ENST00000946114.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 721,
"aa_ref": "R",
"aa_start": 489,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5078,
"cdna_start": 1651,
"cds_end": null,
"cds_length": 2166,
"cds_start": 1465,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000946115.1",
"gene_hgnc_id": 18756,
"gene_symbol": "RHOBTB2",
"hgvs_c": "c.1465_1467delCGGinsGGC",
"hgvs_p": "p.Arg489Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616174.1",
"strand": true,
"transcript": "ENST00000946115.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 749,
"aa_ref": "R",
"aa_start": 511,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5466,
"cdna_start": 2017,
"cds_end": null,
"cds_length": 2250,
"cds_start": 1531,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047421607.1",
"gene_hgnc_id": 18756,
"gene_symbol": "RHOBTB2",
"hgvs_c": "c.1531_1533delCGGinsGGC",
"hgvs_p": "p.Arg511Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277563.1",
"strand": true,
"transcript": "XM_047421607.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 749,
"aa_ref": "R",
"aa_start": 511,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5432,
"cdna_start": 1983,
"cds_end": null,
"cds_length": 2250,
"cds_start": 1531,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047421608.1",
"gene_hgnc_id": 18756,
"gene_symbol": "RHOBTB2",
"hgvs_c": "c.1531_1533delCGGinsGGC",
"hgvs_p": "p.Arg511Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277564.1",
"strand": true,
"transcript": "XM_047421608.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 749,
"aa_ref": "R",
"aa_start": 511,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5279,
"cdna_start": 1830,
"cds_end": null,
"cds_length": 2250,
"cds_start": 1531,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047421609.1",
"gene_hgnc_id": 18756,
"gene_symbol": "RHOBTB2",
"hgvs_c": "c.1531_1533delCGGinsGGC",
"hgvs_p": "p.Arg511Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277565.1",
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