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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: 16-89562954-GT-CC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=89562954&ref=GT&alt=CC&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": "RPL13",
"hgnc_id": 10303,
"hgvs_c": "c.548_549delGTinsCC",
"hgvs_p": "p.Arg183Pro",
"inheritance_mode": "AD",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_000977.4",
"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": "CC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "16",
"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": "P",
"aa_end": null,
"aa_length": 211,
"aa_ref": "R",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2187,
"cdna_start": 599,
"cds_end": null,
"cds_length": 636,
"cds_start": 548,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000977.4",
"gene_hgnc_id": 10303,
"gene_symbol": "RPL13",
"hgvs_c": "c.548_549delGTinsCC",
"hgvs_p": "p.Arg183Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000311528.10",
"protein_coding": true,
"protein_id": "NP_000968.2",
"strand": true,
"transcript": "NM_000977.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 211,
"aa_ref": "R",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2187,
"cdna_start": 599,
"cds_end": null,
"cds_length": 636,
"cds_start": 548,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000311528.10",
"gene_hgnc_id": 10303,
"gene_symbol": "RPL13",
"hgvs_c": "c.548_549delGTinsCC",
"hgvs_p": "p.Arg183Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000977.4",
"protein_coding": true,
"protein_id": "ENSP00000307889.5",
"strand": true,
"transcript": "ENST00000311528.10",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 211,
"aa_ref": "R",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5677,
"cdna_start": 797,
"cds_end": null,
"cds_length": 636,
"cds_start": 548,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000393099.4",
"gene_hgnc_id": 10303,
"gene_symbol": "RPL13",
"hgvs_c": "c.548_549delGTinsCC",
"hgvs_p": "p.Arg183Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376811.3",
"strand": true,
"transcript": "ENST00000393099.4",
"transcript_support_level": 1
},
{
"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": 958,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000562879.5",
"gene_hgnc_id": 10303,
"gene_symbol": "RPL13",
"hgvs_c": "n.*196_*197delGTinsCC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000457174.1",
"strand": true,
"transcript": "ENST00000562879.5",
"transcript_support_level": 1
},
{
"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": 958,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000562879.5",
"gene_hgnc_id": 10303,
"gene_symbol": "RPL13",
"hgvs_c": "n.*196_*197delGTinsCC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000457174.1",
"strand": true,
"transcript": "ENST00000562879.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 211,
"aa_ref": "R",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4672,
"cdna_start": 797,
"cds_end": null,
"cds_length": 636,
"cds_start": 548,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_033251.2",
"gene_hgnc_id": 10303,
"gene_symbol": "RPL13",
"hgvs_c": "c.548_549delGTinsCC",
"hgvs_p": "p.Arg183Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_150254.1",
"strand": true,
"transcript": "NM_033251.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 211,
"aa_ref": "R",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 712,
"cdna_start": 586,
"cds_end": null,
"cds_length": 636,
"cds_start": 548,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000567815.5",
"gene_hgnc_id": 10303,
"gene_symbol": "RPL13",
"hgvs_c": "c.548_549delGTinsCC",
"hgvs_p": "p.Arg183Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455009.1",
"strand": true,
"transcript": "ENST00000567815.5",
"transcript_support_level": 3
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 211,
"aa_ref": "R",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2197,
"cdna_start": 609,
"cds_end": null,
"cds_length": 636,
"cds_start": 548,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000902246.1",
"gene_hgnc_id": 10303,
"gene_symbol": "RPL13",
"hgvs_c": "c.548_549delGTinsCC",
"hgvs_p": "p.Arg183Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572305.1",
"strand": true,
"transcript": "ENST00000902246.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 211,
"aa_ref": "R",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1098,
"cdna_start": 613,
"cds_end": null,
"cds_length": 636,
"cds_start": 548,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000935774.1",
"gene_hgnc_id": 10303,
"gene_symbol": "RPL13",
"hgvs_c": "c.548_549delGTinsCC",
"hgvs_p": "p.Arg183Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605833.1",
"strand": true,
"transcript": "ENST00000935774.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 211,
"aa_ref": "R",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 839,
"cdna_start": 716,
"cds_end": null,
"cds_length": 636,
"cds_start": 548,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000935779.1",
"gene_hgnc_id": 10303,
"gene_symbol": "RPL13",
"hgvs_c": "c.548_549delGTinsCC",
"hgvs_p": "p.Arg183Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605838.1",
"strand": true,
"transcript": "ENST00000935779.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 211,
"aa_ref": "R",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 838,
"cdna_start": 725,
"cds_end": null,
"cds_length": 636,
"cds_start": 548,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000971043.1",
"gene_hgnc_id": 10303,
"gene_symbol": "RPL13",
"hgvs_c": "c.548_549delGTinsCC",
"hgvs_p": "p.Arg183Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641102.1",
"strand": true,
"transcript": "ENST00000971043.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 208,
"aa_ref": "R",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 700,
"cdna_start": 589,
"cds_end": null,
"cds_length": 627,
"cds_start": 539,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000902248.1",
"gene_hgnc_id": 10303,
"gene_symbol": "RPL13",
"hgvs_c": "c.539_540delGTinsCC",
"hgvs_p": "p.Arg180Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572307.1",
"strand": true,
"transcript": "ENST00000902248.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 208,
"aa_ref": "R",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1124,
"cdna_start": 635,
"cds_end": null,
"cds_length": 627,
"cds_start": 539,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000935773.1",
"gene_hgnc_id": 10303,
"gene_symbol": "RPL13",
"hgvs_c": "c.539_540delGTinsCC",
"hgvs_p": "p.Arg180Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605832.1",
"strand": true,
"transcript": "ENST00000935773.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 205,
"aa_ref": "R",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 704,
"cdna_start": 582,
"cds_end": null,
"cds_length": 618,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000902247.1",
"gene_hgnc_id": 10303,
"gene_symbol": "RPL13",
"hgvs_c": "c.530_531delGTinsCC",
"hgvs_p": "p.Arg177Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572306.1",
"strand": true,
"transcript": "ENST00000902247.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 205,
"aa_ref": "R",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 893,
"cdna_start": 786,
"cds_end": null,
"cds_length": 618,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000902249.1",
"gene_hgnc_id": 10303,
"gene_symbol": "RPL13",
"hgvs_c": "c.530_531delGTinsCC",
"hgvs_p": "p.Arg177Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572308.1",
"strand": true,
"transcript": "ENST00000902249.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 205,
"aa_ref": "R",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1082,
"cdna_start": 597,
"cds_end": null,
"cds_length": 618,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000935776.1",
"gene_hgnc_id": 10303,
"gene_symbol": "RPL13",
"hgvs_c": "c.530_531delGTinsCC",
"hgvs_p": "p.Arg177Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605835.1",
"strand": true,
"transcript": "ENST00000935776.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 192,
"aa_ref": "R",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 683,
"cdna_start": 560,
"cds_end": null,
"cds_length": 579,
"cds_start": 491,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000935777.1",
"gene_hgnc_id": 10303,
"gene_symbol": "RPL13",
"hgvs_c": "c.491_492delGTinsCC",
"hgvs_p": "p.Arg164Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605836.1",
"strand": true,
"transcript": "ENST00000935777.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 192,
"aa_ref": "R",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1005,
"cdna_start": 542,
"cds_end": null,
"cds_length": 579,
"cds_start": 491,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000971042.1",
"gene_hgnc_id": 10303,
"gene_symbol": "RPL13",
"hgvs_c": "c.491_492delGTinsCC",
"hgvs_p": "p.Arg164Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641101.1",
"strand": true,
"transcript": "ENST00000971042.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 191,
"aa_ref": "R",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1051,
"cdna_start": 564,
"cds_end": null,
"cds_length": 576,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000935775.1",
"gene_hgnc_id": 10303,
"gene_symbol": "RPL13",
"hgvs_c": "c.488_489delGTinsCC",
"hgvs_p": "p.Arg163Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605834.1",
"strand": true,
"transcript": "ENST00000935775.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 164,
"aa_ref": "R",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4358,
"cdna_start": 483,
"cds_end": null,
"cds_length": 495,
"cds_start": 407,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001243131.1",
"gene_hgnc_id": 10303,
"gene_symbol": "RPL13",
"hgvs_c": "c.407_408delGTinsCC",
"hgvs_p": "p.Arg136Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001230060.1",
"strand": true,
"transcript": "NM_001243131.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 164,
"aa_ref": "R",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1455,
"cdna_start": 457,
"cds_end": null,
"cds_length": 495,
"cds_start": 407,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000452368.7",
"gene_hgnc_id": 10303,
"gene_symbol": "RPL13",
"hgvs_c": "c.407_408delGTinsCC",
"hgvs_p": "p.Arg136Pro",
"intron_rank": null,
"intron_rank_end": null,
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