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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: 1-230995876-GGA-CGC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=230995876&ref=GGA&alt=CGC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS1",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ARV1",
"hgnc_id": 29561,
"hgvs_c": "c.664_666delGGAinsCGC",
"hgvs_p": "p.Gly222Arg",
"inheritance_mode": "AR",
"pathogenic_score": 5,
"score": 5,
"transcript": "NM_001346992.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PS1,PP3",
"acmg_score": 5,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CGC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "1",
"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": 271,
"aa_ref": "G",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1428,
"cdna_start": 577,
"cds_end": null,
"cds_length": 816,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_022786.3",
"gene_hgnc_id": 29561,
"gene_symbol": "ARV1",
"hgvs_c": "c.565_567delGGAinsCGC",
"hgvs_p": "p.Gly189Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000310256.7",
"protein_coding": true,
"protein_id": "NP_073623.1",
"strand": true,
"transcript": "NM_022786.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 271,
"aa_ref": "G",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1428,
"cdna_start": 577,
"cds_end": null,
"cds_length": 816,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000310256.7",
"gene_hgnc_id": 29561,
"gene_symbol": "ARV1",
"hgvs_c": "c.565_567delGGAinsCGC",
"hgvs_p": "p.Gly189Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_022786.3",
"protein_coding": true,
"protein_id": "ENSP00000312458.2",
"strand": true,
"transcript": "ENST00000310256.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 312,
"aa_ref": "G",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1434,
"cdna_start": 722,
"cds_end": null,
"cds_length": 939,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000893839.1",
"gene_hgnc_id": 29561,
"gene_symbol": "ARV1",
"hgvs_c": "c.688_690delGGAinsCGC",
"hgvs_p": "p.Gly230Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563898.1",
"strand": true,
"transcript": "ENST00000893839.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 312,
"aa_ref": "G",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2471,
"cdna_start": 724,
"cds_end": null,
"cds_length": 939,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000893842.1",
"gene_hgnc_id": 29561,
"gene_symbol": "ARV1",
"hgvs_c": "c.688_690delGGAinsCGC",
"hgvs_p": "p.Gly230Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563901.1",
"strand": true,
"transcript": "ENST00000893842.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 308,
"aa_ref": "G",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1386,
"cdna_start": 683,
"cds_end": null,
"cds_length": 927,
"cds_start": 676,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960456.1",
"gene_hgnc_id": 29561,
"gene_symbol": "ARV1",
"hgvs_c": "c.676_678delGGAinsCGC",
"hgvs_p": "p.Gly226Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630515.1",
"strand": true,
"transcript": "ENST00000960456.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 304,
"aa_ref": "G",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1527,
"cdna_start": 676,
"cds_end": null,
"cds_length": 915,
"cds_start": 664,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001346992.2",
"gene_hgnc_id": 29561,
"gene_symbol": "ARV1",
"hgvs_c": "c.664_666delGGAinsCGC",
"hgvs_p": "p.Gly222Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333921.1",
"strand": true,
"transcript": "NM_001346992.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 290,
"aa_ref": "G",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 879,
"cdna_start": 624,
"cds_end": null,
"cds_length": 873,
"cds_start": 622,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000435927.5",
"gene_hgnc_id": 29561,
"gene_symbol": "ARV1",
"hgvs_c": "c.622_624delGGAinsCGC",
"hgvs_p": "p.Gly208Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000394547.1",
"strand": true,
"transcript": "ENST00000435927.5",
"transcript_support_level": 3
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 275,
"aa_ref": "G",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1306,
"cdna_start": 595,
"cds_end": null,
"cds_length": 828,
"cds_start": 577,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000893841.1",
"gene_hgnc_id": 29561,
"gene_symbol": "ARV1",
"hgvs_c": "c.577_579delGGAinsCGC",
"hgvs_p": "p.Gly193Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563900.1",
"strand": true,
"transcript": "ENST00000893841.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 271,
"aa_ref": "G",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2346,
"cdna_start": 599,
"cds_end": null,
"cds_length": 816,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000893843.1",
"gene_hgnc_id": 29561,
"gene_symbol": "ARV1",
"hgvs_c": "c.565_567delGGAinsCGC",
"hgvs_p": "p.Gly189Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563902.1",
"strand": true,
"transcript": "ENST00000893843.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 267,
"aa_ref": "G",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 991,
"cdna_start": 555,
"cds_end": null,
"cds_length": 804,
"cds_start": 553,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000450711.5",
"gene_hgnc_id": 29561,
"gene_symbol": "ARV1",
"hgvs_c": "c.553_555delGGAinsCGC",
"hgvs_p": "p.Gly185Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416039.1",
"strand": true,
"transcript": "ENST00000450711.5",
"transcript_support_level": 3
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 264,
"aa_ref": "G",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1294,
"cdna_start": 581,
"cds_end": null,
"cds_length": 795,
"cds_start": 544,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936179.1",
"gene_hgnc_id": 29561,
"gene_symbol": "ARV1",
"hgvs_c": "c.544_546delGGAinsCGC",
"hgvs_p": "p.Gly182Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606238.1",
"strand": true,
"transcript": "ENST00000936179.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 231,
"aa_ref": "G",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1170,
"cdna_start": 457,
"cds_end": null,
"cds_length": 696,
"cds_start": 445,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000366658.6",
"gene_hgnc_id": 29561,
"gene_symbol": "ARV1",
"hgvs_c": "c.445_447delGGAinsCGC",
"hgvs_p": "p.Gly149Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355618.2",
"strand": true,
"transcript": "ENST00000366658.6",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 231,
"aa_ref": "G",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4027,
"cdna_start": 449,
"cds_end": null,
"cds_length": 696,
"cds_start": 445,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936180.1",
"gene_hgnc_id": 29561,
"gene_symbol": "ARV1",
"hgvs_c": "c.445_447delGGAinsCGC",
"hgvs_p": "p.Gly149Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606239.1",
"strand": true,
"transcript": "ENST00000936180.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 312,
"aa_ref": "G",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1551,
"cdna_start": 700,
"cds_end": null,
"cds_length": 939,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_024449202.2",
"gene_hgnc_id": 29561,
"gene_symbol": "ARV1",
"hgvs_c": "c.688_690delGGAinsCGC",
"hgvs_p": "p.Gly230Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024304970.1",
"strand": true,
"transcript": "XM_024449202.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 196,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1714,
"cdna_start": null,
"cds_end": null,
"cds_length": 591,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000893838.1",
"gene_hgnc_id": 29561,
"gene_symbol": "ARV1",
"hgvs_c": "c.449-1245_449-1243delGGAinsCGC",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563897.1",
"strand": true,
"transcript": "ENST00000893838.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 196,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1079,
"cdna_start": null,
"cds_end": null,
"cds_length": 591,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000893840.1",
"gene_hgnc_id": 29561,
"gene_symbol": "ARV1",
"hgvs_c": "c.449-1245_449-1243delGGAinsCGC",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563899.1",
"strand": true,
"transcript": "ENST00000893840.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1009,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000459891.1",
"gene_hgnc_id": 29561,
"gene_symbol": "ARV1",
"hgvs_c": "n.115_117delGGAinsCGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000435420.1",
"strand": true,
"transcript": "ENST00000459891.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1037,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000480519.5",
"gene_hgnc_id": 29561,
"gene_symbol": "ARV1",
"hgvs_c": "n.537_539delGGAinsCGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000480519.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1072,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000497753.1",
"gene_hgnc_id": 29561,
"gene_symbol": "ARV1",
"hgvs_c": "n.930_932delGGAinsCGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000497753.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1607,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NR_144538.2",
"gene_hgnc_id": 29561,
"gene_symbol": "ARV1",
"hgvs_c": "n.577_579delGGAinsCGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_144538.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1730,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XR_002957381.2",
"gene_hgnc_id": 29561,
"gene_symbol": "ARV1",
"hgvs_c": "n.700_702delGGAinsCGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
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