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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: 7-121362856-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=121362856&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "FAM3C",
"hgnc_id": 18664,
"hgvs_c": "c.382+41G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_014888.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 225154,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.7,
"chr": "7",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.699999988079071,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 227,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2455,
"cdna_start": null,
"cds_end": null,
"cds_length": 684,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_014888.3",
"gene_hgnc_id": 18664,
"gene_symbol": "FAM3C",
"hgvs_c": "c.382+41G>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000359943.8",
"protein_coding": true,
"protein_id": "NP_055703.1",
"strand": false,
"transcript": "NM_014888.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 227,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2455,
"cdna_start": null,
"cds_end": null,
"cds_length": 684,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000359943.8",
"gene_hgnc_id": 18664,
"gene_symbol": "FAM3C",
"hgvs_c": "c.382+41G>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014888.3",
"protein_coding": true,
"protein_id": "ENSP00000353025.3",
"strand": false,
"transcript": "ENST00000359943.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 244,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2533,
"cdna_start": null,
"cds_end": null,
"cds_length": 735,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892193.1",
"gene_hgnc_id": 18664,
"gene_symbol": "FAM3C",
"hgvs_c": "c.382+41G>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562252.1",
"strand": false,
"transcript": "ENST00000892193.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 227,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2415,
"cdna_start": null,
"cds_end": null,
"cds_length": 684,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001040020.2",
"gene_hgnc_id": 18664,
"gene_symbol": "FAM3C",
"hgvs_c": "c.382+41G>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001035109.1",
"strand": false,
"transcript": "NM_001040020.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 227,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2482,
"cdna_start": null,
"cds_end": null,
"cds_length": 684,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000850865.1",
"gene_hgnc_id": 18664,
"gene_symbol": "FAM3C",
"hgvs_c": "c.382+41G>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000520951.1",
"strand": false,
"transcript": "ENST00000850865.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 227,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2430,
"cdna_start": null,
"cds_end": null,
"cds_length": 684,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892184.1",
"gene_hgnc_id": 18664,
"gene_symbol": "FAM3C",
"hgvs_c": "c.382+41G>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562243.1",
"strand": false,
"transcript": "ENST00000892184.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 227,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3726,
"cdna_start": null,
"cds_end": null,
"cds_length": 684,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892185.1",
"gene_hgnc_id": 18664,
"gene_symbol": "FAM3C",
"hgvs_c": "c.382+41G>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562244.1",
"strand": false,
"transcript": "ENST00000892185.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 227,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2643,
"cdna_start": null,
"cds_end": null,
"cds_length": 684,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892187.1",
"gene_hgnc_id": 18664,
"gene_symbol": "FAM3C",
"hgvs_c": "c.382+41G>A",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562246.1",
"strand": false,
"transcript": "ENST00000892187.1",
"transcript_support_level": null
},
{
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"aa_length": 227,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2583,
"cdna_start": null,
"cds_end": null,
"cds_length": 684,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892188.1",
"gene_hgnc_id": 18664,
"gene_symbol": "FAM3C",
"hgvs_c": "c.382+41G>A",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562247.1",
"strand": false,
"transcript": "ENST00000892188.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 227,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2616,
"cdna_start": null,
"cds_end": null,
"cds_length": 684,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892190.1",
"gene_hgnc_id": 18664,
"gene_symbol": "FAM3C",
"hgvs_c": "c.382+41G>A",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562249.1",
"strand": false,
"transcript": "ENST00000892190.1",
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},
{
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"consequences": [
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],
"exon_count": 11,
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"feature": "ENST00000892192.1",
"gene_hgnc_id": 18664,
"gene_symbol": "FAM3C",
"hgvs_c": "c.382+41G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000562251.1",
"strand": false,
"transcript": "ENST00000892192.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000892196.1",
"gene_hgnc_id": 18664,
"gene_symbol": "FAM3C",
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"mane_plus": null,
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"strand": false,
"transcript": "ENST00000892196.1",
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},
{
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],
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"feature": "ENST00000892197.1",
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},
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"consequences": [
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],
"exon_count": 10,
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"feature": "ENST00000892198.1",
"gene_hgnc_id": 18664,
"gene_symbol": "FAM3C",
"hgvs_c": "c.382+41G>A",
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"intron_rank": 7,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000562257.1",
"strand": false,
"transcript": "ENST00000892198.1",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
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"feature": "ENST00000892199.1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000562258.1",
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"transcript": "ENST00000892199.1",
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},
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"consequences": [
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],
"exon_count": 10,
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"feature": "ENST00000892200.1",
"gene_hgnc_id": 18664,
"gene_symbol": "FAM3C",
"hgvs_c": "c.382+41G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000562259.1",
"strand": false,
"transcript": "ENST00000892200.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_start": null,
"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
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"feature": "ENST00000892201.1",
"gene_hgnc_id": 18664,
"gene_symbol": "FAM3C",
"hgvs_c": "c.382+41G>A",
"hgvs_p": null,
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"protein_coding": true,
"protein_id": "ENSP00000562260.1",
"strand": false,
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},
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],
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"feature": "ENST00000892202.1",
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},
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],
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"feature": "ENST00000951274.1",
"gene_hgnc_id": 18664,
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},
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"consequences": [
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],
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"feature": "ENST00000951277.1",
"gene_hgnc_id": 18664,
"gene_symbol": "FAM3C",
"hgvs_c": "c.382+41G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000621336.1",
"strand": false,
"transcript": "ENST00000951277.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
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"feature": "ENST00000951278.1",
"gene_hgnc_id": 18664,
"gene_symbol": "FAM3C",
"hgvs_c": "c.382+41G>A",
"hgvs_p": null,
"intron_rank": 8,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000621337.1",
"strand": false,
"transcript": "ENST00000951278.1",
"transcript_support_level": null
},
{
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