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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: 15-77477576-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=77477576&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HMG20A",
"hgnc_id": 5001,
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Arg213Trp",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_018200.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000294779",
"hgnc_id": null,
"hgvs_c": "n.92+20610G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000725956.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 5,
"alphamissense_prediction": null,
"alphamissense_score": 0.3295,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.02,
"chr": "15",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.4936017692089081,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 347,
"aa_ref": "R",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3805,
"cdna_start": 758,
"cds_end": null,
"cds_length": 1044,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001304504.2",
"gene_hgnc_id": 5001,
"gene_symbol": "HMG20A",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Arg213Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000336216.9",
"protein_coding": true,
"protein_id": "NP_001291433.1",
"strand": true,
"transcript": "NM_001304504.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 347,
"aa_ref": "R",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3805,
"cdna_start": 758,
"cds_end": null,
"cds_length": 1044,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000336216.9",
"gene_hgnc_id": 5001,
"gene_symbol": "HMG20A",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Arg213Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001304504.2",
"protein_coding": true,
"protein_id": "ENSP00000336856.4",
"strand": true,
"transcript": "ENST00000336216.9",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 347,
"aa_ref": "R",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4112,
"cdna_start": 1065,
"cds_end": null,
"cds_length": 1044,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000381714.7",
"gene_hgnc_id": 5001,
"gene_symbol": "HMG20A",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Arg213Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000371133.3",
"strand": true,
"transcript": "ENST00000381714.7",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 347,
"aa_ref": "R",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3898,
"cdna_start": 851,
"cds_end": null,
"cds_length": 1044,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_018200.4",
"gene_hgnc_id": 5001,
"gene_symbol": "HMG20A",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Arg213Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_060670.1",
"strand": true,
"transcript": "NM_018200.4",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 347,
"aa_ref": "R",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3763,
"cdna_start": 769,
"cds_end": null,
"cds_length": 1044,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000859564.1",
"gene_hgnc_id": 5001,
"gene_symbol": "HMG20A",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Arg213Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529622.1",
"strand": true,
"transcript": "ENST00000859564.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 347,
"aa_ref": "R",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3794,
"cdna_start": 747,
"cds_end": null,
"cds_length": 1044,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000859565.1",
"gene_hgnc_id": 5001,
"gene_symbol": "HMG20A",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Arg213Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529624.1",
"strand": true,
"transcript": "ENST00000859565.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 347,
"aa_ref": "R",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3796,
"cdna_start": 758,
"cds_end": null,
"cds_length": 1044,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000859566.1",
"gene_hgnc_id": 5001,
"gene_symbol": "HMG20A",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Arg213Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529625.1",
"strand": true,
"transcript": "ENST00000859566.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 347,
"aa_ref": "R",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3765,
"cdna_start": 738,
"cds_end": null,
"cds_length": 1044,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000859568.1",
"gene_hgnc_id": 5001,
"gene_symbol": "HMG20A",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Arg213Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529627.1",
"strand": true,
"transcript": "ENST00000859568.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 347,
"aa_ref": "R",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2592,
"cdna_start": 721,
"cds_end": null,
"cds_length": 1044,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000859569.1",
"gene_hgnc_id": 5001,
"gene_symbol": "HMG20A",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Arg213Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529628.1",
"strand": true,
"transcript": "ENST00000859569.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 347,
"aa_ref": "R",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3053,
"cdna_start": 1300,
"cds_end": null,
"cds_length": 1044,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000859571.1",
"gene_hgnc_id": 5001,
"gene_symbol": "HMG20A",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Arg213Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529630.1",
"strand": true,
"transcript": "ENST00000859571.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 347,
"aa_ref": "R",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2954,
"cdna_start": 1185,
"cds_end": null,
"cds_length": 1044,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000859572.1",
"gene_hgnc_id": 5001,
"gene_symbol": "HMG20A",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Arg213Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529631.1",
"strand": true,
"transcript": "ENST00000859572.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 347,
"aa_ref": "R",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4624,
"cdna_start": 1225,
"cds_end": null,
"cds_length": 1044,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000938333.1",
"gene_hgnc_id": 5001,
"gene_symbol": "HMG20A",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Arg213Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608392.1",
"strand": true,
"transcript": "ENST00000938333.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 347,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3997,
"cdna_start": 950,
"cds_end": null,
"cds_length": 1044,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000938334.1",
"gene_hgnc_id": 5001,
"gene_symbol": "HMG20A",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Arg213Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608393.1",
"strand": true,
"transcript": "ENST00000938334.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 347,
"aa_ref": "R",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1837,
"cdna_start": 758,
"cds_end": null,
"cds_length": 1044,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000938335.1",
"gene_hgnc_id": 5001,
"gene_symbol": "HMG20A",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Arg213Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608394.1",
"strand": true,
"transcript": "ENST00000938335.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 347,
"aa_ref": "R",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2900,
"cdna_start": 1186,
"cds_end": null,
"cds_length": 1044,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000938337.1",
"gene_hgnc_id": 5001,
"gene_symbol": "HMG20A",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Arg213Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608396.1",
"strand": true,
"transcript": "ENST00000938337.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 347,
"aa_ref": "R",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1905,
"cdna_start": 1209,
"cds_end": null,
"cds_length": 1044,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000938338.1",
"gene_hgnc_id": 5001,
"gene_symbol": "HMG20A",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Arg213Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608397.1",
"strand": true,
"transcript": "ENST00000938338.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 347,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2446,
"cdna_start": 743,
"cds_end": null,
"cds_length": 1044,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000951417.1",
"gene_hgnc_id": 5001,
"gene_symbol": "HMG20A",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Arg213Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621476.1",
"strand": true,
"transcript": "ENST00000951417.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 343,
"aa_ref": "R",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3773,
"cdna_start": 738,
"cds_end": null,
"cds_length": 1032,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000859567.1",
"gene_hgnc_id": 5001,
"gene_symbol": "HMG20A",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Arg213Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529626.1",
"strand": true,
"transcript": "ENST00000859567.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 276,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1755,
"cdna_start": 545,
"cds_end": null,
"cds_length": 831,
"cds_start": 424,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000859570.1",
"gene_hgnc_id": 5001,
"gene_symbol": "HMG20A",
"hgvs_c": "c.424C>T",
"hgvs_p": "p.Arg142Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529629.1",
"strand": true,
"transcript": "ENST00000859570.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 234,
"aa_ref": "R",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3717,
"cdna_start": 670,
"cds_end": null,
"cds_length": 705,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001304505.2",
"gene_hgnc_id": 5001,
"gene_symbol": "HMG20A",
"hgvs_c": "c.298C>T",
"hgvs_p": "p.Arg100Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001291434.1",
"strand": true,
"transcript": "NM_001304505.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 347,
"aa_ref": "R",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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