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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: 6-43432668-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=43432668&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ABCC10",
"hgnc_id": 52,
"hgvs_c": "c.688G>C",
"hgvs_p": "p.Ala230Pro",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001198934.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 114,
"alphamissense_prediction": null,
"alphamissense_score": 0.231,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.1,
"chr": "6",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.03785276412963867,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1492,
"aa_ref": "A",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5043,
"cdna_start": 916,
"cds_end": null,
"cds_length": 4479,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001198934.2",
"gene_hgnc_id": 52,
"gene_symbol": "ABCC10",
"hgvs_c": "c.688G>C",
"hgvs_p": "p.Ala230Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000372530.9",
"protein_coding": true,
"protein_id": "NP_001185863.1",
"strand": true,
"transcript": "NM_001198934.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1492,
"aa_ref": "A",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5043,
"cdna_start": 916,
"cds_end": null,
"cds_length": 4479,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000372530.9",
"gene_hgnc_id": 52,
"gene_symbol": "ABCC10",
"hgvs_c": "c.688G>C",
"hgvs_p": "p.Ala230Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001198934.2",
"protein_coding": true,
"protein_id": "ENSP00000361608.4",
"strand": true,
"transcript": "ENST00000372530.9",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1464,
"aa_ref": "A",
"aa_start": 187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5088,
"cdna_start": 918,
"cds_end": null,
"cds_length": 4395,
"cds_start": 559,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000244533.7",
"gene_hgnc_id": 52,
"gene_symbol": "ABCC10",
"hgvs_c": "c.559G>C",
"hgvs_p": "p.Ala187Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000244533.3",
"strand": true,
"transcript": "ENST00000244533.7",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1507,
"aa_ref": "A",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4992,
"cdna_start": 828,
"cds_end": null,
"cds_length": 4524,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000921385.1",
"gene_hgnc_id": 52,
"gene_symbol": "ABCC10",
"hgvs_c": "c.688G>C",
"hgvs_p": "p.Ala230Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591444.1",
"strand": true,
"transcript": "ENST00000921385.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1492,
"aa_ref": "A",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4991,
"cdna_start": 861,
"cds_end": null,
"cds_length": 4479,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000854259.1",
"gene_hgnc_id": 52,
"gene_symbol": "ABCC10",
"hgvs_c": "c.688G>C",
"hgvs_p": "p.Ala230Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524318.1",
"strand": true,
"transcript": "ENST00000854259.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1492,
"aa_ref": "A",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4931,
"cdna_start": 804,
"cds_end": null,
"cds_length": 4479,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000854260.1",
"gene_hgnc_id": 52,
"gene_symbol": "ABCC10",
"hgvs_c": "c.688G>C",
"hgvs_p": "p.Ala230Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524319.1",
"strand": true,
"transcript": "ENST00000854260.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1492,
"aa_ref": "A",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4978,
"cdna_start": 854,
"cds_end": null,
"cds_length": 4479,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000952098.1",
"gene_hgnc_id": 52,
"gene_symbol": "ABCC10",
"hgvs_c": "c.688G>C",
"hgvs_p": "p.Ala230Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622157.1",
"strand": true,
"transcript": "ENST00000952098.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1488,
"aa_ref": "A",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4910,
"cdna_start": 795,
"cds_end": null,
"cds_length": 4467,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000952099.1",
"gene_hgnc_id": 52,
"gene_symbol": "ABCC10",
"hgvs_c": "c.688G>C",
"hgvs_p": "p.Ala230Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622158.1",
"strand": true,
"transcript": "ENST00000952099.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1464,
"aa_ref": "A",
"aa_start": 187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5090,
"cdna_start": 918,
"cds_end": null,
"cds_length": 4395,
"cds_start": 559,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_033450.3",
"gene_hgnc_id": 52,
"gene_symbol": "ABCC10",
"hgvs_c": "c.559G>C",
"hgvs_p": "p.Ala187Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_258261.2",
"strand": true,
"transcript": "NM_033450.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1523,
"aa_ref": "A",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5081,
"cdna_start": 954,
"cds_end": null,
"cds_length": 4572,
"cds_start": 781,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047419494.1",
"gene_hgnc_id": 52,
"gene_symbol": "ABCC10",
"hgvs_c": "c.781G>C",
"hgvs_p": "p.Ala261Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275450.1",
"strand": true,
"transcript": "XM_047419494.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 1492,
"aa_ref": "A",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4931,
"cdna_start": 804,
"cds_end": null,
"cds_length": 4479,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011514974.4",
"gene_hgnc_id": 52,
"gene_symbol": "ABCC10",
"hgvs_c": "c.688G>C",
"hgvs_p": "p.Ala230Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011513276.3",
"strand": true,
"transcript": "XM_011514974.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 1492,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4985,
"cdna_start": 858,
"cds_end": null,
"cds_length": 4479,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047419495.1",
"gene_hgnc_id": 52,
"gene_symbol": "ABCC10",
"hgvs_c": "c.688G>C",
"hgvs_p": "p.Ala230Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275451.1",
"strand": true,
"transcript": "XM_047419495.1",
"transcript_support_level": null
},
{
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"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4525,
"cdna_start": 804,
"cds_end": null,
"cds_length": 4308,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047419496.1",
"gene_hgnc_id": 52,
"gene_symbol": "ABCC10",
"hgvs_c": "c.688G>C",
"hgvs_p": "p.Ala230Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275452.1",
"strand": true,
"transcript": "XM_047419496.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 1428,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4504,
"cdna_start": 804,
"cds_end": null,
"cds_length": 4287,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047419497.1",
"gene_hgnc_id": 52,
"gene_symbol": "ABCC10",
"hgvs_c": "c.688G>C",
"hgvs_p": "p.Ala230Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275453.1",
"strand": true,
"transcript": "XM_047419497.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 804,
"cds_end": null,
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"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047419498.1",
"gene_hgnc_id": 52,
"gene_symbol": "ABCC10",
"hgvs_c": "c.688G>C",
"hgvs_p": "p.Ala230Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275454.1",
"strand": true,
"transcript": "XM_047419498.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 1324,
"aa_ref": "A",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4878,
"cdna_start": 751,
"cds_end": null,
"cds_length": 3975,
"cds_start": 184,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047419499.1",
"gene_hgnc_id": 52,
"gene_symbol": "ABCC10",
"hgvs_c": "c.184G>C",
"hgvs_p": "p.Ala62Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275455.1",
"strand": true,
"transcript": "XM_047419499.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 1268,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4010,
"cdna_start": 804,
"cds_end": null,
"cds_length": 3807,
"cds_start": 688,
"consequences": [
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],
"exon_count": 16,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047419500.1",
"gene_hgnc_id": 52,
"gene_symbol": "ABCC10",
"hgvs_c": "c.688G>C",
"hgvs_p": "p.Ala230Pro",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047275456.1",
"strand": true,
"transcript": "XM_047419500.1",
"transcript_support_level": null
},
{
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"aa_ref": "A",
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"biotype": "protein_coding",
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"cds_end": null,
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"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047419501.1",
"gene_hgnc_id": 52,
"gene_symbol": "ABCC10",
"hgvs_c": "c.688G>C",
"hgvs_p": "p.Ala230Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275457.1",
"strand": true,
"transcript": "XM_047419501.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3892,
"cdna_start": null,
"cds_end": null,
"cds_length": 3147,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001350518.2",
"gene_hgnc_id": 52,
"gene_symbol": "ABCC10",
"hgvs_c": "c.-78-567G>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337447.1",
"strand": true,
"transcript": "NM_001350518.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 276,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9466,
"cdna_start": null,
"cds_end": null,
"cds_length": 831,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000372515.9",
"gene_hgnc_id": 52,
"gene_symbol": "ABCC10",
"hgvs_c": "c.-78-567G>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000361593.4",
"strand": true,
"transcript": "ENST00000372515.9",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1048,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3666,
"cdna_start": null,
"cds_end": null,
"cds_length": 3147,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047419502.1",
"gene_hgnc_id": 52,
"gene_symbol": "ABCC10",
"hgvs_c": "c.-78-567G>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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]
}