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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: 19-46124021-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=46124021&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "IGFL3",
"hgnc_id": 32930,
"hgvs_c": "c.215C>A",
"hgvs_p": "p.Thr72Asn",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -4,
"transcript": "NM_207393.2",
"verdict": "Likely_benign"
},
{
"benign_score": 6,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "IGFL2",
"hgnc_id": 32929,
"hgvs_c": "n.1576-36394G>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -4,
"transcript": "XR_935743.3",
"verdict": "Likely_benign"
},
{
"benign_score": 6,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000267922",
"hgnc_id": null,
"hgvs_c": "n.16+22884G>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -4,
"transcript": "ENST00000597989.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_score": -4,
"allele_count_reference_population": 17,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0425,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.76,
"chr": "19",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.022475719451904297,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 125,
"aa_ref": "T",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 680,
"cdna_start": 254,
"cds_end": null,
"cds_length": 378,
"cds_start": 215,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_207393.2",
"gene_hgnc_id": 32930,
"gene_symbol": "IGFL3",
"hgvs_c": "c.215C>A",
"hgvs_p": "p.Thr72Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000341415.3",
"protein_coding": true,
"protein_id": "NP_997276.1",
"strand": false,
"transcript": "NM_207393.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 125,
"aa_ref": "T",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 680,
"cdna_start": 254,
"cds_end": null,
"cds_length": 378,
"cds_start": 215,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000341415.3",
"gene_hgnc_id": 32930,
"gene_symbol": "IGFL3",
"hgvs_c": "c.215C>A",
"hgvs_p": "p.Thr72Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_207393.2",
"protein_coding": true,
"protein_id": "ENSP00000344860.2",
"strand": false,
"transcript": "ENST00000341415.3",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 153,
"aa_ref": "T",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 643,
"cdna_start": 254,
"cds_end": null,
"cds_length": 462,
"cds_start": 215,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011526953.3",
"gene_hgnc_id": 32930,
"gene_symbol": "IGFL3",
"hgvs_c": "c.215C>A",
"hgvs_p": "p.Thr72Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011525255.1",
"strand": false,
"transcript": "XM_011526953.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 130,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1964,
"cdna_start": null,
"cds_end": null,
"cds_length": 393,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_024451381.2",
"gene_hgnc_id": 32929,
"gene_symbol": "IGFL2",
"hgvs_c": "c.-258+22884G>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024307149.1",
"strand": true,
"transcript": "XM_024451381.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 130,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2112,
"cdna_start": null,
"cds_end": null,
"cds_length": 393,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047438228.1",
"gene_hgnc_id": 32929,
"gene_symbol": "IGFL2",
"hgvs_c": "c.-405-19044G>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294184.1",
"strand": true,
"transcript": "XM_047438228.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 332,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000597989.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000267922",
"hgvs_c": "n.16+22884G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000597989.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2016,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_001753604.1",
"gene_hgnc_id": 32929,
"gene_symbol": "IGFL2",
"hgvs_c": "n.1576-19044G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_001753604.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2025,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_001753605.1",
"gene_hgnc_id": 32929,
"gene_symbol": "IGFL2",
"hgvs_c": "n.1732+22884G>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_001753605.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 5884,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_002958257.2",
"gene_hgnc_id": 32929,
"gene_symbol": "IGFL2",
"hgvs_c": "n.956+43934G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_002958257.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3594,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_002958269.2",
"gene_hgnc_id": 32929,
"gene_symbol": "IGFL2",
"hgvs_c": "n.956+43934G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_002958269.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1789,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
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],
"exon_count": 6,
"exon_rank": null,
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"feature": "XR_002958271.2",
"gene_hgnc_id": 32929,
"gene_symbol": "IGFL2",
"hgvs_c": "n.956+43934G>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_002958271.2",
"transcript_support_level": null
},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1868,
"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 2,
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"feature": "XR_007066604.1",
"gene_hgnc_id": 32929,
"gene_symbol": "IGFL2",
"hgvs_c": "n.1576-36394G>T",
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"mane_plus": null,
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"protein_coding": false,
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"strand": true,
"transcript": "XR_007066604.1",
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},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1920,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
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"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
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"feature": "XR_007066605.1",
"gene_hgnc_id": 32929,
"gene_symbol": "IGFL2",
"hgvs_c": "n.1575+43934G>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": false,
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"strand": true,
"transcript": "XR_007066605.1",
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},
{
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"biotype": "pseudogene",
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"consequences": [
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],
"exon_count": 3,
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"feature": "XR_007066606.1",
"gene_hgnc_id": 32929,
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"hgvs_c": "n.1576-36394G>T",
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"mane_plus": null,
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"strand": true,
"transcript": "XR_007066606.1",
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},
{
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"biotype": "pseudogene",
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"cdna_end": null,
"cdna_length": 3967,
"cdna_start": null,
"cds_end": null,
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"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007066607.1",
"gene_hgnc_id": 32929,
"gene_symbol": "IGFL2",
"hgvs_c": "n.956+43934G>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007066607.1",
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},
{
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"cdna_length": 5042,
"cdna_start": null,
"cds_end": null,
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"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007066608.1",
"gene_hgnc_id": 32929,
"gene_symbol": "IGFL2",
"hgvs_c": "n.956+43934G>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"strand": true,
"transcript": "XR_007066608.1",
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},
{
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"consequences": [
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],
"exon_count": 14,
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"feature": "XR_007066609.1",
"gene_hgnc_id": 32929,
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"hgvs_c": "n.956+43934G>T",
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},
{
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"consequences": [
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],
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"feature": "XR_007066610.1",
"gene_hgnc_id": 32929,
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"hgvs_c": "n.956+43934G>T",
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},
{
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"consequences": [
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],
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"feature": "XR_007066611.1",
"gene_hgnc_id": 32929,
"gene_symbol": "IGFL2",
"hgvs_c": "n.956+43934G>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007066611.1",
"transcript_support_level": null
},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007066612.1",
"gene_hgnc_id": 32929,
"gene_symbol": "IGFL2",
"hgvs_c": "n.956+43934G>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007066612.1",
"transcript_support_level": null
},
{
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"biotype": "pseudogene",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
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