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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: 6-109786389-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=109786389&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FIG4",
"hgnc_id": 16873,
"hgvs_c": "c.2036G>A",
"hgvs_p": "p.Arg679Gln",
"inheritance_mode": "AR,AD,Unknown",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_014845.6",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 7,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1499,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"chr": "6",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Charcot-Marie-Tooth disease type 4,Inborn genetic diseases",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.23379755020141602,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 907,
"aa_ref": "R",
"aa_start": 679,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3025,
"cdna_start": 2176,
"cds_end": null,
"cds_length": 2724,
"cds_start": 2036,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_014845.6",
"gene_hgnc_id": 16873,
"gene_symbol": "FIG4",
"hgvs_c": "c.2036G>A",
"hgvs_p": "p.Arg679Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000230124.8",
"protein_coding": true,
"protein_id": "NP_055660.1",
"strand": true,
"transcript": "NM_014845.6",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 907,
"aa_ref": "R",
"aa_start": 679,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3025,
"cdna_start": 2176,
"cds_end": null,
"cds_length": 2724,
"cds_start": 2036,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000230124.8",
"gene_hgnc_id": 16873,
"gene_symbol": "FIG4",
"hgvs_c": "c.2036G>A",
"hgvs_p": "p.Arg679Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014845.6",
"protein_coding": true,
"protein_id": "ENSP00000230124.4",
"strand": true,
"transcript": "ENST00000230124.8",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 913,
"aa_ref": "R",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3003,
"cdna_start": 2175,
"cds_end": null,
"cds_length": 2742,
"cds_start": 2054,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000674884.1",
"gene_hgnc_id": 16873,
"gene_symbol": "FIG4",
"hgvs_c": "c.2054G>A",
"hgvs_p": "p.Arg685Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502668.1",
"strand": true,
"transcript": "ENST00000674884.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 905,
"aa_ref": "R",
"aa_start": 677,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2999,
"cdna_start": 2185,
"cds_end": null,
"cds_length": 2718,
"cds_start": 2030,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000674744.1",
"gene_hgnc_id": 16873,
"gene_symbol": "FIG4",
"hgvs_c": "c.2030G>A",
"hgvs_p": "p.Arg677Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501661.1",
"strand": true,
"transcript": "ENST00000674744.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 878,
"aa_ref": "R",
"aa_start": 679,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2966,
"cdna_start": 2223,
"cds_end": null,
"cds_length": 2637,
"cds_start": 2036,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000675726.1",
"gene_hgnc_id": 16873,
"gene_symbol": "FIG4",
"hgvs_c": "c.2036G>A",
"hgvs_p": "p.Arg679Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502452.1",
"strand": true,
"transcript": "ENST00000675726.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 864,
"aa_ref": "R",
"aa_start": 679,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2963,
"cdna_start": 2176,
"cds_end": null,
"cds_length": 2595,
"cds_start": 2036,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000675772.1",
"gene_hgnc_id": 16873,
"gene_symbol": "FIG4",
"hgvs_c": "c.2036G>A",
"hgvs_p": "p.Arg679Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501678.1",
"strand": true,
"transcript": "ENST00000675772.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 864,
"aa_ref": "R",
"aa_start": 636,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2915,
"cdna_start": 2078,
"cds_end": null,
"cds_length": 2595,
"cds_start": 1907,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000676442.1",
"gene_hgnc_id": 16873,
"gene_symbol": "FIG4",
"hgvs_c": "c.1907G>A",
"hgvs_p": "p.Arg636Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502595.1",
"strand": true,
"transcript": "ENST00000676442.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 849,
"aa_ref": "R",
"aa_start": 679,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3137,
"cdna_start": 2176,
"cds_end": null,
"cds_length": 2550,
"cds_start": 2036,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000675284.1",
"gene_hgnc_id": 16873,
"gene_symbol": "FIG4",
"hgvs_c": "c.2036G>A",
"hgvs_p": "p.Arg679Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502758.1",
"strand": true,
"transcript": "ENST00000675284.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 835,
"aa_ref": "R",
"aa_start": 636,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2822,
"cdna_start": 2057,
"cds_end": null,
"cds_length": 2508,
"cds_start": 1907,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000922531.1",
"gene_hgnc_id": 16873,
"gene_symbol": "FIG4",
"hgvs_c": "c.1907G>A",
"hgvs_p": "p.Arg636Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592590.1",
"strand": true,
"transcript": "ENST00000922531.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 830,
"aa_ref": "R",
"aa_start": 602,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3033,
"cdna_start": 2184,
"cds_end": null,
"cds_length": 2493,
"cds_start": 1805,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000675523.1",
"gene_hgnc_id": 16873,
"gene_symbol": "FIG4",
"hgvs_c": "c.1805G>A",
"hgvs_p": "p.Arg602Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502384.1",
"strand": true,
"transcript": "ENST00000675523.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 816,
"aa_ref": "R",
"aa_start": 679,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2725,
"cdna_start": 2184,
"cds_end": null,
"cds_length": 2451,
"cds_start": 2036,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000675714.1",
"gene_hgnc_id": 16873,
"gene_symbol": "FIG4",
"hgvs_c": "c.2036G>A",
"hgvs_p": "p.Arg679Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502561.1",
"strand": true,
"transcript": "ENST00000675714.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 801,
"aa_ref": "R",
"aa_start": 602,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2912,
"cdna_start": 2205,
"cds_end": null,
"cds_length": 2406,
"cds_start": 1805,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000674933.1",
"gene_hgnc_id": 16873,
"gene_symbol": "FIG4",
"hgvs_c": "c.1805G>A",
"hgvs_p": "p.Arg602Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502376.1",
"strand": true,
"transcript": "ENST00000674933.1",
"transcript_support_level": null
},
{
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"aa_length": 792,
"aa_ref": "R",
"aa_start": 564,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2786,
"cdna_start": 1953,
"cds_end": null,
"cds_length": 2379,
"cds_start": 1691,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000674641.1",
"gene_hgnc_id": 16873,
"gene_symbol": "FIG4",
"hgvs_c": "c.1691G>A",
"hgvs_p": "p.Arg564Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501609.1",
"strand": true,
"transcript": "ENST00000674641.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 776,
"aa_ref": "R",
"aa_start": 548,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2501,
"cdna_start": 1766,
"cds_end": null,
"cds_length": 2331,
"cds_start": 1643,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000675831.1",
"gene_hgnc_id": 16873,
"gene_symbol": "FIG4",
"hgvs_c": "c.1643G>A",
"hgvs_p": "p.Arg548Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502382.1",
"strand": true,
"transcript": "ENST00000675831.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 489,
"aa_ref": "R",
"aa_start": 369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1931,
"cdna_start": 1566,
"cds_end": null,
"cds_length": 1471,
"cds_start": 1106,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000674644.1",
"gene_hgnc_id": 16873,
"gene_symbol": "FIG4",
"hgvs_c": "c.1106G>A",
"hgvs_p": "p.Arg369Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502201.1",
"strand": true,
"transcript": "ENST00000674644.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 409,
"aa_ref": "R",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1712,
"cdna_start": 950,
"cds_end": null,
"cds_length": 1230,
"cds_start": 542,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000415980.2",
"gene_hgnc_id": 16873,
"gene_symbol": "FIG4",
"hgvs_c": "c.542G>A",
"hgvs_p": "p.Arg181Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000405660.2",
"strand": true,
"transcript": "ENST00000415980.2",
"transcript_support_level": 3
},
{
"aa_alt": "Q",
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"aa_length": 886,
"aa_ref": "R",
"aa_start": 658,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3640,
"cdna_start": 2791,
"cds_end": null,
"cds_length": 2661,
"cds_start": 1973,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_011536281.4",
"gene_hgnc_id": 16873,
"gene_symbol": "FIG4",
"hgvs_c": "c.1973G>A",
"hgvs_p": "p.Arg658Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534583.1",
"strand": true,
"transcript": "XM_011536281.4",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2715,
"cdna_start": null,
"cds_end": null,
"cds_length": 2517,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675096.1",
"gene_hgnc_id": 16873,
"gene_symbol": "FIG4",
"hgvs_c": "c.1890-3205G>A",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502116.1",
"strand": true,
"transcript": "ENST00000675096.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 846,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000419951.2",
"gene_hgnc_id": 16873,
"gene_symbol": "FIG4",
"hgvs_c": "n.384G>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": "ENST00000419951.2",
"transcript_support_level": 3
},
{
"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": 6030,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000674532.1",
"gene_hgnc_id": 16873,
"gene_symbol": "FIG4",
"hgvs_c": "n.5232G>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": "ENST00000674532.1",
"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": 2688,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000674557.1",
"gene_hgnc_id": 16873,
"gene_symbol": "FIG4",
"hgvs_c": "n.*1329G>A",
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}