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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: X-153700962-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=153700962&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "BCAP31",
"hgnc_id": 16695,
"hgvs_c": "c.917G>A",
"hgvs_p": "p.Gly306Asp",
"inheritance_mode": "AR,XL",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_001139457.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 11,
"alphamissense_prediction": null,
"alphamissense_score": 0.2127,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.33,
"chr": "X",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.11740827560424805,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 246,
"aa_ref": "G",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1284,
"cdna_start": 814,
"cds_end": null,
"cds_length": 741,
"cds_start": 716,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001256447.2",
"gene_hgnc_id": 16695,
"gene_symbol": "BCAP31",
"hgvs_c": "c.716G>A",
"hgvs_p": "p.Gly239Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000345046.12",
"protein_coding": true,
"protein_id": "NP_001243376.1",
"strand": false,
"transcript": "NM_001256447.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 246,
"aa_ref": "G",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1284,
"cdna_start": 814,
"cds_end": null,
"cds_length": 741,
"cds_start": 716,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000345046.12",
"gene_hgnc_id": 16695,
"gene_symbol": "BCAP31",
"hgvs_c": "c.716G>A",
"hgvs_p": "p.Gly239Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001256447.2",
"protein_coding": true,
"protein_id": "ENSP00000343458.6",
"strand": false,
"transcript": "ENST00000345046.12",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 313,
"aa_ref": "G",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1789,
"cdna_start": 1319,
"cds_end": null,
"cds_length": 942,
"cds_start": 917,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000458587.8",
"gene_hgnc_id": 16695,
"gene_symbol": "BCAP31",
"hgvs_c": "c.917G>A",
"hgvs_p": "p.Gly306Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392330.2",
"strand": false,
"transcript": "ENST00000458587.8",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 313,
"aa_ref": "G",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1824,
"cdna_start": 1354,
"cds_end": null,
"cds_length": 942,
"cds_start": 917,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001139457.2",
"gene_hgnc_id": 16695,
"gene_symbol": "BCAP31",
"hgvs_c": "c.917G>A",
"hgvs_p": "p.Gly306Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001132929.1",
"strand": false,
"transcript": "NM_001139457.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 273,
"aa_ref": "G",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1349,
"cdna_start": 897,
"cds_end": null,
"cds_length": 822,
"cds_start": 797,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000928875.1",
"gene_hgnc_id": 16695,
"gene_symbol": "BCAP31",
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Gly266Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598934.1",
"strand": false,
"transcript": "ENST00000928875.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 246,
"aa_ref": "G",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1342,
"cdna_start": 872,
"cds_end": null,
"cds_length": 741,
"cds_start": 716,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001139441.1",
"gene_hgnc_id": 16695,
"gene_symbol": "BCAP31",
"hgvs_c": "c.716G>A",
"hgvs_p": "p.Gly239Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001132913.1",
"strand": false,
"transcript": "NM_001139441.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 246,
"aa_ref": "G",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1417,
"cdna_start": 947,
"cds_end": null,
"cds_length": 741,
"cds_start": 716,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_005745.8",
"gene_hgnc_id": 16695,
"gene_symbol": "BCAP31",
"hgvs_c": "c.716G>A",
"hgvs_p": "p.Gly239Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_005736.3",
"strand": false,
"transcript": "NM_005745.8",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 246,
"aa_ref": "G",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1433,
"cdna_start": 967,
"cds_end": null,
"cds_length": 741,
"cds_start": 716,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000647529.1",
"gene_hgnc_id": 16695,
"gene_symbol": "BCAP31",
"hgvs_c": "c.716G>A",
"hgvs_p": "p.Gly239Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494052.1",
"strand": false,
"transcript": "ENST00000647529.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 246,
"aa_ref": "G",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1350,
"cdna_start": 888,
"cds_end": null,
"cds_length": 741,
"cds_start": 716,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000672675.1",
"gene_hgnc_id": 16695,
"gene_symbol": "BCAP31",
"hgvs_c": "c.716G>A",
"hgvs_p": "p.Gly239Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499882.1",
"strand": false,
"transcript": "ENST00000672675.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 246,
"aa_ref": "G",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3868,
"cdna_start": 912,
"cds_end": null,
"cds_length": 741,
"cds_start": 716,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000862066.1",
"gene_hgnc_id": 16695,
"gene_symbol": "BCAP31",
"hgvs_c": "c.716G>A",
"hgvs_p": "p.Gly239Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532125.1",
"strand": false,
"transcript": "ENST00000862066.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
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"aa_length": 246,
"aa_ref": "G",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1452,
"cdna_start": 987,
"cds_end": null,
"cds_length": 741,
"cds_start": 716,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000862067.1",
"gene_hgnc_id": 16695,
"gene_symbol": "BCAP31",
"hgvs_c": "c.716G>A",
"hgvs_p": "p.Gly239Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532126.1",
"strand": false,
"transcript": "ENST00000862067.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
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"aa_length": 246,
"aa_ref": "G",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1497,
"cdna_start": 1033,
"cds_end": null,
"cds_length": 741,
"cds_start": 716,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000862068.1",
"gene_hgnc_id": 16695,
"gene_symbol": "BCAP31",
"hgvs_c": "c.716G>A",
"hgvs_p": "p.Gly239Asp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532127.1",
"strand": false,
"transcript": "ENST00000862068.1",
"transcript_support_level": null
},
{
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"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1347,
"cdna_start": 884,
"cds_end": null,
"cds_length": 741,
"cds_start": 716,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000862070.1",
"gene_hgnc_id": 16695,
"gene_symbol": "BCAP31",
"hgvs_c": "c.716G>A",
"hgvs_p": "p.Gly239Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532129.1",
"strand": false,
"transcript": "ENST00000862070.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 246,
"aa_ref": "G",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1249,
"cdna_start": 786,
"cds_end": null,
"cds_length": 741,
"cds_start": 716,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000862072.1",
"gene_hgnc_id": 16695,
"gene_symbol": "BCAP31",
"hgvs_c": "c.716G>A",
"hgvs_p": "p.Gly239Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532131.1",
"strand": false,
"transcript": "ENST00000862072.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
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"aa_length": 246,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1310,
"cdna_start": 847,
"cds_end": null,
"cds_length": 741,
"cds_start": 716,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000862074.1",
"gene_hgnc_id": 16695,
"gene_symbol": "BCAP31",
"hgvs_c": "c.716G>A",
"hgvs_p": "p.Gly239Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532133.1",
"strand": false,
"transcript": "ENST00000862074.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
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"aa_length": 246,
"aa_ref": "G",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1429,
"cdna_start": 964,
"cds_end": null,
"cds_length": 741,
"cds_start": 716,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000862076.1",
"gene_hgnc_id": 16695,
"gene_symbol": "BCAP31",
"hgvs_c": "c.716G>A",
"hgvs_p": "p.Gly239Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532135.1",
"strand": false,
"transcript": "ENST00000862076.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 246,
"aa_ref": "G",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1316,
"cdna_start": 851,
"cds_end": null,
"cds_length": 741,
"cds_start": 716,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000862077.1",
"gene_hgnc_id": 16695,
"gene_symbol": "BCAP31",
"hgvs_c": "c.716G>A",
"hgvs_p": "p.Gly239Asp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532136.1",
"strand": false,
"transcript": "ENST00000862077.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
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"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1501,
"cdna_start": 1036,
"cds_end": null,
"cds_length": 741,
"cds_start": 716,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000862078.1",
"gene_hgnc_id": 16695,
"gene_symbol": "BCAP31",
"hgvs_c": "c.716G>A",
"hgvs_p": "p.Gly239Asp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532137.1",
"strand": false,
"transcript": "ENST00000862078.1",
"transcript_support_level": null
},
{
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"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1449,
"cdna_start": 986,
"cds_end": null,
"cds_length": 741,
"cds_start": 716,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000862079.1",
"gene_hgnc_id": 16695,
"gene_symbol": "BCAP31",
"hgvs_c": "c.716G>A",
"hgvs_p": "p.Gly239Asp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532138.1",
"strand": false,
"transcript": "ENST00000862079.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 246,
"aa_ref": "G",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1512,
"cdna_start": 1047,
"cds_end": null,
"cds_length": 741,
"cds_start": 716,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000862080.1",
"gene_hgnc_id": 16695,
"gene_symbol": "BCAP31",
"hgvs_c": "c.716G>A",
"hgvs_p": "p.Gly239Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532139.1",
"strand": false,
"transcript": "ENST00000862080.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 246,
"aa_ref": "G",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1467,
"cdna_start": 1002,
"cds_end": null,
"cds_length": 741,
"cds_start": 716,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000928872.1",
"gene_hgnc_id": 16695,
"gene_symbol": "BCAP31",
"hgvs_c": "c.716G>A",
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