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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: 4-109760294-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=109760294&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM1",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CFI",
"hgnc_id": 5394,
"hgvs_c": "c.859G>A",
"hgvs_p": "p.Gly287Arg",
"inheritance_mode": "AD,Unknown,AR",
"pathogenic_score": 10,
"score": 10,
"transcript": "NM_001375278.1",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PS3",
"PM1",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ENSG00000285330",
"hgnc_id": null,
"hgvs_c": "c.859G>A",
"hgvs_p": "p.Gly287Arg",
"inheritance_mode": "",
"pathogenic_score": 10,
"score": 10,
"transcript": "ENST00000645635.1",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM1,PP3_Strong",
"acmg_score": 10,
"allele_count_reference_population": 320,
"alphamissense_prediction": null,
"alphamissense_score": 0.2149,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.44,
"chr": "4",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Age related macular degeneration 13,Atypical hemolytic-uremic syndrome with I factor anomaly,CFI-related disorder,Factor I deficiency,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:2",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9640530347824097,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 583,
"aa_ref": "G",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1978,
"cdna_start": 887,
"cds_end": null,
"cds_length": 1752,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_000204.5",
"gene_hgnc_id": 5394,
"gene_symbol": "CFI",
"hgvs_c": "c.859G>A",
"hgvs_p": "p.Gly287Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000394634.7",
"protein_coding": true,
"protein_id": "NP_000195.3",
"strand": false,
"transcript": "NM_000204.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 583,
"aa_ref": "G",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1978,
"cdna_start": 887,
"cds_end": null,
"cds_length": 1752,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000394634.7",
"gene_hgnc_id": 5394,
"gene_symbol": "CFI",
"hgvs_c": "c.859G>A",
"hgvs_p": "p.Gly287Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000204.5",
"protein_coding": true,
"protein_id": "ENSP00000378130.2",
"strand": false,
"transcript": "ENST00000394634.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 631,
"aa_ref": "G",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2385,
"cdna_start": 887,
"cds_end": null,
"cds_length": 1896,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000645635.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000285330",
"hgvs_c": "c.859G>A",
"hgvs_p": "p.Gly287Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493607.1",
"strand": false,
"transcript": "ENST00000645635.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 613,
"aa_ref": "G",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2087,
"cdna_start": 909,
"cds_end": null,
"cds_length": 1842,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000963332.1",
"gene_hgnc_id": 5394,
"gene_symbol": "CFI",
"hgvs_c": "c.859G>A",
"hgvs_p": "p.Gly287Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633391.1",
"strand": false,
"transcript": "ENST00000963332.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 601,
"aa_ref": "G",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2085,
"cdna_start": 887,
"cds_end": null,
"cds_length": 1806,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001375278.1",
"gene_hgnc_id": 5394,
"gene_symbol": "CFI",
"hgvs_c": "c.859G>A",
"hgvs_p": "p.Gly287Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362207.1",
"strand": false,
"transcript": "NM_001375278.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 600,
"aa_ref": "G",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2082,
"cdna_start": 887,
"cds_end": null,
"cds_length": 1803,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001440985.1",
"gene_hgnc_id": 5394,
"gene_symbol": "CFI",
"hgvs_c": "c.859G>A",
"hgvs_p": "p.Gly287Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427914.1",
"strand": false,
"transcript": "NM_001440985.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 599,
"aa_ref": "G",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2025,
"cdna_start": 887,
"cds_end": null,
"cds_length": 1800,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000882821.1",
"gene_hgnc_id": 5394,
"gene_symbol": "CFI",
"hgvs_c": "c.859G>A",
"hgvs_p": "p.Gly287Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552880.1",
"strand": false,
"transcript": "ENST00000882821.1",
"transcript_support_level": null
},
{
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"aa_length": 593,
"aa_ref": "G",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2061,
"cdna_start": 887,
"cds_end": null,
"cds_length": 1782,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001375279.1",
"gene_hgnc_id": 5394,
"gene_symbol": "CFI",
"hgvs_c": "c.859G>A",
"hgvs_p": "p.Gly287Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362208.1",
"strand": false,
"transcript": "NM_001375279.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 591,
"aa_ref": "G",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2002,
"cdna_start": 887,
"cds_end": null,
"cds_length": 1776,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001318057.2",
"gene_hgnc_id": 5394,
"gene_symbol": "CFI",
"hgvs_c": "c.859G>A",
"hgvs_p": "p.Gly287Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001304986.2",
"strand": false,
"transcript": "NM_001318057.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 591,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2002,
"cdna_start": 887,
"cds_end": null,
"cds_length": 1776,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000394635.8",
"gene_hgnc_id": 5394,
"gene_symbol": "CFI",
"hgvs_c": "c.859G>A",
"hgvs_p": "p.Gly287Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378131.3",
"strand": false,
"transcript": "ENST00000394635.8",
"transcript_support_level": 2
},
{
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"aa_length": 590,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1999,
"cdna_start": 887,
"cds_end": null,
"cds_length": 1773,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
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"feature": "NM_001440986.1",
"gene_hgnc_id": 5394,
"gene_symbol": "CFI",
"hgvs_c": "c.859G>A",
"hgvs_p": "p.Gly287Arg",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001427915.1",
"strand": false,
"transcript": "NM_001440986.1",
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},
{
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"aa_length": 590,
"aa_ref": "G",
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"canonical": false,
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"cdna_length": 2150,
"cdna_start": 1037,
"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000882815.1",
"gene_hgnc_id": 5394,
"gene_symbol": "CFI",
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"protein_coding": true,
"protein_id": "ENSP00000552874.1",
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"transcript": "ENST00000882815.1",
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},
{
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"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000963333.1",
"gene_hgnc_id": 5394,
"gene_symbol": "CFI",
"hgvs_c": "c.859G>A",
"hgvs_p": "p.Gly287Arg",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000633392.1",
"strand": false,
"transcript": "ENST00000963333.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_length": 2064,
"cdna_start": 997,
"cds_end": null,
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"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
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"feature": "ENST00000882818.1",
"gene_hgnc_id": 5394,
"gene_symbol": "CFI",
"hgvs_c": "c.895G>A",
"hgvs_p": "p.Gly299Arg",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000552877.1",
"strand": false,
"transcript": "ENST00000882818.1",
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},
{
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"aa_ref": "G",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2040,
"cdna_start": 887,
"cds_end": null,
"cds_length": 1761,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001375280.1",
"gene_hgnc_id": 5394,
"gene_symbol": "CFI",
"hgvs_c": "c.859G>A",
"hgvs_p": "p.Gly287Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362209.1",
"strand": false,
"transcript": "NM_001375280.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 1980,
"cdna_start": 887,
"cds_end": null,
"cds_length": 1755,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000882820.1",
"gene_hgnc_id": 5394,
"gene_symbol": "CFI",
"hgvs_c": "c.859G>A",
"hgvs_p": "p.Gly287Arg",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000552879.1",
"strand": false,
"transcript": "ENST00000882820.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
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"feature": "ENST00000963330.1",
"gene_hgnc_id": 5394,
"gene_symbol": "CFI",
"hgvs_c": "c.859G>A",
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"mane_plus": null,
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"protein_id": "ENSP00000633389.1",
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"transcript": "ENST00000963330.1",
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},
{
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"cdna_start": 954,
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"cds_start": 850,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
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"feature": "ENST00000963331.1",
"gene_hgnc_id": 5394,
"gene_symbol": "CFI",
"hgvs_c": "c.850G>A",
"hgvs_p": "p.Gly284Arg",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000633390.1",
"strand": false,
"transcript": "ENST00000963331.1",
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},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001331035.2",
"gene_hgnc_id": 5394,
"gene_symbol": "CFI",
"hgvs_c": "c.859G>A",
"hgvs_p": "p.Gly287Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317964.1",
"strand": false,
"transcript": "NM_001331035.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1914,
"cdna_start": 873,
"cds_end": null,
"cds_length": 1731,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000512148.5",
"gene_hgnc_id": 5394,
"gene_symbol": "CFI",
"hgvs_c": "c.859G>A",
"hgvs_p": "p.Gly287Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000427438.1",
"strand": false,
"transcript": "ENST00000512148.5",
"transcript_support_level": 5
},
{
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"aa_ref": "G",
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"biotype": "protein_coding",
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"cdna_end": null,
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