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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: 7-5529304-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=5529304&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ACTB",
"hgnc_id": 132,
"hgvs_c": "c.220G>A",
"hgvs_p": "p.Gly74Ser",
"inheritance_mode": "AD",
"pathogenic_score": 19,
"score": 19,
"transcript": "NM_001101.5",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Strong,PP5_Very_Strong",
"acmg_score": 19,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9977,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.54,
"chr": "7",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "Baraitser-Winter syndrome 1,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LP:2",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9717739820480347,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 375,
"aa_ref": "G",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1812,
"cdna_start": 304,
"cds_end": null,
"cds_length": 1128,
"cds_start": 220,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001101.5",
"gene_hgnc_id": 132,
"gene_symbol": "ACTB",
"hgvs_c": "c.220G>A",
"hgvs_p": "p.Gly74Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000646664.1",
"protein_coding": true,
"protein_id": "NP_001092.1",
"strand": false,
"transcript": "NM_001101.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 375,
"aa_ref": "G",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1812,
"cdna_start": 304,
"cds_end": null,
"cds_length": 1128,
"cds_start": 220,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000646664.1",
"gene_hgnc_id": 132,
"gene_symbol": "ACTB",
"hgvs_c": "c.220G>A",
"hgvs_p": "p.Gly74Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001101.5",
"protein_coding": true,
"protein_id": "ENSP00000494750.1",
"strand": false,
"transcript": "ENST00000646664.1",
"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": 1845,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000425660.5",
"gene_hgnc_id": 132,
"gene_symbol": "ACTB",
"hgvs_c": "n.220G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000409264.1",
"strand": false,
"transcript": "ENST00000425660.5",
"transcript_support_level": 1
},
{
"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": 657,
"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": "ENST00000480301.1",
"gene_hgnc_id": 132,
"gene_symbol": "ACTB",
"hgvs_c": "n.420G>A",
"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": "ENST00000480301.1",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 375,
"aa_ref": "G",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1495,
"cdna_start": 375,
"cds_end": null,
"cds_length": 1128,
"cds_start": 220,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000493945.6",
"gene_hgnc_id": 132,
"gene_symbol": "ACTB",
"hgvs_c": "c.220G>A",
"hgvs_p": "p.Gly74Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494269.1",
"strand": false,
"transcript": "ENST00000493945.6",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 375,
"aa_ref": "G",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2021,
"cdna_start": 512,
"cds_end": null,
"cds_length": 1128,
"cds_start": 220,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000642480.2",
"gene_hgnc_id": 132,
"gene_symbol": "ACTB",
"hgvs_c": "c.220G>A",
"hgvs_p": "p.Gly74Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495995.2",
"strand": false,
"transcript": "ENST00000642480.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 375,
"aa_ref": "G",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2554,
"cdna_start": 307,
"cds_end": null,
"cds_length": 1128,
"cds_start": 220,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000674681.1",
"gene_hgnc_id": 132,
"gene_symbol": "ACTB",
"hgvs_c": "c.220G>A",
"hgvs_p": "p.Gly74Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502821.1",
"strand": false,
"transcript": "ENST00000674681.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 375,
"aa_ref": "G",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1919,
"cdna_start": 415,
"cds_end": null,
"cds_length": 1128,
"cds_start": 220,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000675515.1",
"gene_hgnc_id": 132,
"gene_symbol": "ACTB",
"hgvs_c": "c.220G>A",
"hgvs_p": "p.Gly74Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501862.1",
"strand": false,
"transcript": "ENST00000675515.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 375,
"aa_ref": "G",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1815,
"cdna_start": 310,
"cds_end": null,
"cds_length": 1128,
"cds_start": 220,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000899420.1",
"gene_hgnc_id": 132,
"gene_symbol": "ACTB",
"hgvs_c": "c.220G>A",
"hgvs_p": "p.Gly74Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569479.1",
"strand": false,
"transcript": "ENST00000899420.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 375,
"aa_ref": "G",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1833,
"cdna_start": 325,
"cds_end": null,
"cds_length": 1128,
"cds_start": 220,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000899421.1",
"gene_hgnc_id": 132,
"gene_symbol": "ACTB",
"hgvs_c": "c.220G>A",
"hgvs_p": "p.Gly74Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569480.1",
"strand": false,
"transcript": "ENST00000899421.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 375,
"aa_ref": "G",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1858,
"cdna_start": 353,
"cds_end": null,
"cds_length": 1128,
"cds_start": 220,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000899425.1",
"gene_hgnc_id": 132,
"gene_symbol": "ACTB",
"hgvs_c": "c.220G>A",
"hgvs_p": "p.Gly74Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569484.1",
"strand": false,
"transcript": "ENST00000899425.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 375,
"aa_ref": "G",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1811,
"cdna_start": 306,
"cds_end": null,
"cds_length": 1128,
"cds_start": 220,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000899429.1",
"gene_hgnc_id": 132,
"gene_symbol": "ACTB",
"hgvs_c": "c.220G>A",
"hgvs_p": "p.Gly74Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569488.1",
"strand": false,
"transcript": "ENST00000899429.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 375,
"aa_ref": "G",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1813,
"cdna_start": 308,
"cds_end": null,
"cds_length": 1128,
"cds_start": 220,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000919306.1",
"gene_hgnc_id": 132,
"gene_symbol": "ACTB",
"hgvs_c": "c.220G>A",
"hgvs_p": "p.Gly74Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589365.1",
"strand": false,
"transcript": "ENST00000919306.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 375,
"aa_ref": "G",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1975,
"cdna_start": 479,
"cds_end": null,
"cds_length": 1128,
"cds_start": 220,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000950579.1",
"gene_hgnc_id": 132,
"gene_symbol": "ACTB",
"hgvs_c": "c.220G>A",
"hgvs_p": "p.Gly74Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620638.1",
"strand": false,
"transcript": "ENST00000950579.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 371,
"aa_ref": "G",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1801,
"cdna_start": 304,
"cds_end": null,
"cds_length": 1116,
"cds_start": 220,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000919299.1",
"gene_hgnc_id": 132,
"gene_symbol": "ACTB",
"hgvs_c": "c.220G>A",
"hgvs_p": "p.Gly74Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589358.1",
"strand": false,
"transcript": "ENST00000919299.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 369,
"aa_ref": "G",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1793,
"cdna_start": 304,
"cds_end": null,
"cds_length": 1110,
"cds_start": 220,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000919301.1",
"gene_hgnc_id": 132,
"gene_symbol": "ACTB",
"hgvs_c": "c.220G>A",
"hgvs_p": "p.Gly74Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589360.1",
"strand": false,
"transcript": "ENST00000919301.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 367,
"aa_ref": "G",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1780,
"cdna_start": 280,
"cds_end": null,
"cds_length": 1104,
"cds_start": 196,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000899427.1",
"gene_hgnc_id": 132,
"gene_symbol": "ACTB",
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Gly66Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569486.1",
"strand": false,
"transcript": "ENST00000899427.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 366,
"aa_ref": "G",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1782,
"cdna_start": 277,
"cds_end": null,
"cds_length": 1101,
"cds_start": 193,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000899424.1",
"gene_hgnc_id": 132,
"gene_symbol": "ACTB",
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Gly65Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569483.1",
"strand": false,
"transcript": "ENST00000899424.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 348,
"aa_ref": "G",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1728,
"cdna_start": 223,
"cds_end": null,
"cds_length": 1047,
"cds_start": 139,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000899422.1",
"gene_hgnc_id": 132,
"gene_symbol": "ACTB",
"hgvs_c": "c.139G>A",
"hgvs_p": "p.Gly47Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569481.1",
"strand": false,
"transcript": "ENST00000899422.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 345,
"aa_ref": "G",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1716,
"cdna_start": 301,
"cds_end": null,
"cds_length": 1038,
"cds_start": 220,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000899426.1",
"gene_hgnc_id": 132,
"gene_symbol": "ACTB",
"hgvs_c": "c.220G>A",
"hgvs_p": "p.Gly74Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569485.1",
"strand": false,
"transcript": "ENST00000899426.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 344,
"aa_ref": "G",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1719,
"cdna_start": 304,
"cds_end": null,
"cds_length": 1035,
"cds_start": 220,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000919300.1",
"gene_hgnc_id": 132,
"gene_symbol": "ACTB",
"hgvs_c": "c.220G>A",
"hgvs_p": "p.Gly74Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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