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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: 19-40759588-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=40759588&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SNRPA",
"hgnc_id": 11151,
"hgvs_c": "c.404G>A",
"hgvs_p": "p.Gly135Glu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_004596.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.4445,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.39,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.13727602362632751,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 282,
"aa_ref": "G",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1277,
"cdna_start": 610,
"cds_end": null,
"cds_length": 849,
"cds_start": 404,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_004596.5",
"gene_hgnc_id": 11151,
"gene_symbol": "SNRPA",
"hgvs_c": "c.404G>A",
"hgvs_p": "p.Gly135Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000243563.8",
"protein_coding": true,
"protein_id": "NP_004587.1",
"strand": true,
"transcript": "NM_004596.5",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 282,
"aa_ref": "G",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1277,
"cdna_start": 610,
"cds_end": null,
"cds_length": 849,
"cds_start": 404,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000243563.8",
"gene_hgnc_id": 11151,
"gene_symbol": "SNRPA",
"hgvs_c": "c.404G>A",
"hgvs_p": "p.Gly135Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004596.5",
"protein_coding": true,
"protein_id": "ENSP00000243563.2",
"strand": true,
"transcript": "ENST00000243563.8",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 326,
"aa_ref": "G",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1405,
"cdna_start": 738,
"cds_end": null,
"cds_length": 981,
"cds_start": 536,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000925562.1",
"gene_hgnc_id": 11151,
"gene_symbol": "SNRPA",
"hgvs_c": "c.536G>A",
"hgvs_p": "p.Gly179Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595621.1",
"strand": true,
"transcript": "ENST00000925562.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 313,
"aa_ref": "G",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1375,
"cdna_start": 708,
"cds_end": null,
"cds_length": 942,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000861888.1",
"gene_hgnc_id": 11151,
"gene_symbol": "SNRPA",
"hgvs_c": "c.497G>A",
"hgvs_p": "p.Gly166Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531947.1",
"strand": true,
"transcript": "ENST00000861888.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 313,
"aa_ref": "G",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1246,
"cdna_start": 579,
"cds_end": null,
"cds_length": 942,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000925561.1",
"gene_hgnc_id": 11151,
"gene_symbol": "SNRPA",
"hgvs_c": "c.497G>A",
"hgvs_p": "p.Gly166Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595620.1",
"strand": true,
"transcript": "ENST00000925561.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 282,
"aa_ref": "G",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1210,
"cdna_start": 543,
"cds_end": null,
"cds_length": 849,
"cds_start": 404,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000925553.1",
"gene_hgnc_id": 11151,
"gene_symbol": "SNRPA",
"hgvs_c": "c.404G>A",
"hgvs_p": "p.Gly135Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595612.1",
"strand": true,
"transcript": "ENST00000925553.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 282,
"aa_ref": "G",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1285,
"cdna_start": 618,
"cds_end": null,
"cds_length": 849,
"cds_start": 404,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000925554.1",
"gene_hgnc_id": 11151,
"gene_symbol": "SNRPA",
"hgvs_c": "c.404G>A",
"hgvs_p": "p.Gly135Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595613.1",
"strand": true,
"transcript": "ENST00000925554.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 282,
"aa_ref": "G",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1266,
"cdna_start": 596,
"cds_end": null,
"cds_length": 849,
"cds_start": 404,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000925555.1",
"gene_hgnc_id": 11151,
"gene_symbol": "SNRPA",
"hgvs_c": "c.404G>A",
"hgvs_p": "p.Gly135Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595614.1",
"strand": true,
"transcript": "ENST00000925555.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 282,
"aa_ref": "G",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1306,
"cdna_start": 639,
"cds_end": null,
"cds_length": 849,
"cds_start": 404,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000925556.1",
"gene_hgnc_id": 11151,
"gene_symbol": "SNRPA",
"hgvs_c": "c.404G>A",
"hgvs_p": "p.Gly135Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595615.1",
"strand": true,
"transcript": "ENST00000925556.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 282,
"aa_ref": "G",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1278,
"cdna_start": 611,
"cds_end": null,
"cds_length": 849,
"cds_start": 404,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000925560.1",
"gene_hgnc_id": 11151,
"gene_symbol": "SNRPA",
"hgvs_c": "c.404G>A",
"hgvs_p": "p.Gly135Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595619.1",
"strand": true,
"transcript": "ENST00000925560.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 279,
"aa_ref": "G",
"aa_start": 132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1574,
"cdna_start": 905,
"cds_end": null,
"cds_length": 840,
"cds_start": 395,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000861887.1",
"gene_hgnc_id": 11151,
"gene_symbol": "SNRPA",
"hgvs_c": "c.395G>A",
"hgvs_p": "p.Gly132Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531946.1",
"strand": true,
"transcript": "ENST00000861887.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 279,
"aa_ref": "G",
"aa_start": 132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1155,
"cdna_start": 488,
"cds_end": null,
"cds_length": 840,
"cds_start": 395,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000925559.1",
"gene_hgnc_id": 11151,
"gene_symbol": "SNRPA",
"hgvs_c": "c.395G>A",
"hgvs_p": "p.Gly132Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595618.1",
"strand": true,
"transcript": "ENST00000925559.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 261,
"aa_ref": "G",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1125,
"cdna_start": 458,
"cds_end": null,
"cds_length": 786,
"cds_start": 341,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000925557.1",
"gene_hgnc_id": 11151,
"gene_symbol": "SNRPA",
"hgvs_c": "c.341G>A",
"hgvs_p": "p.Gly114Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595616.1",
"strand": true,
"transcript": "ENST00000925557.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 261,
"aa_ref": "G",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1165,
"cdna_start": 494,
"cds_end": null,
"cds_length": 786,
"cds_start": 341,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000925558.1",
"gene_hgnc_id": 11151,
"gene_symbol": "SNRPA",
"hgvs_c": "c.341G>A",
"hgvs_p": "p.Gly114Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595617.1",
"strand": true,
"transcript": "ENST00000925558.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 255,
"aa_ref": "G",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 969,
"cdna_start": 541,
"cds_end": null,
"cds_length": 769,
"cds_start": 341,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000601393.1",
"gene_hgnc_id": 11151,
"gene_symbol": "SNRPA",
"hgvs_c": "c.341G>A",
"hgvs_p": "p.Gly114Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000472355.1",
"strand": true,
"transcript": "ENST00000601393.1",
"transcript_support_level": 3
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 183,
"aa_ref": "G",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 695,
"cdna_start": 396,
"cds_end": null,
"cds_length": 553,
"cds_start": 254,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000601545.5",
"gene_hgnc_id": 11151,
"gene_symbol": "SNRPA",
"hgvs_c": "c.254G>A",
"hgvs_p": "p.Gly85Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000470534.1",
"strand": true,
"transcript": "ENST00000601545.5",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 147,
"aa_ref": "G",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 538,
"cdna_start": 496,
"cds_end": null,
"cds_length": 446,
"cds_start": 404,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000597353.5",
"gene_hgnc_id": 11151,
"gene_symbol": "SNRPA",
"hgvs_c": "c.404G>A",
"hgvs_p": "p.Gly135Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000472449.1",
"strand": true,
"transcript": "ENST00000597353.5",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 141,
"aa_ref": "G",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 555,
"cdna_start": 533,
"cds_end": null,
"cds_length": 426,
"cds_start": 404,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000599362.5",
"gene_hgnc_id": 11151,
"gene_symbol": "SNRPA",
"hgvs_c": "c.404G>A",
"hgvs_p": "p.Gly135Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000472258.1",
"strand": true,
"transcript": "ENST00000599362.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 679,
"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": "ENST00000598452.1",
"gene_hgnc_id": 11151,
"gene_symbol": "SNRPA",
"hgvs_c": "n.627G>A",
"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": "ENST00000598452.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 952,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000598923.1",
"gene_hgnc_id": 11151,
"gene_symbol": "SNRPA",
"hgvs_c": "n.539G>A",
"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": "ENST00000598923.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 925,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000599570.5",
"gene_hgnc_id": 11151,
"gene_symbol": "SNRPA",
"hgvs_c": "n.903G>A",
"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": "ENST00000599570.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
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