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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: 9-35075704-CAAAAACACCT-CA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=35075704&ref=CAAAAACACCT&alt=CA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PM4"
],
"effects": [
"disruptive_inframe_deletion"
],
"gene_symbol": "FANCG",
"hgnc_id": 3588,
"hgvs_c": "c.1184_1192delAGGTGTTTT",
"hgvs_p": "p.Glu395_Leu398delinsVal",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_004629.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 622,
"aa_ref": "EVFL",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2556,
"cdna_start": 1610,
"cds_end": null,
"cds_length": 1869,
"cds_start": 1184,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_004629.2",
"gene_hgnc_id": 3588,
"gene_symbol": "FANCG",
"hgvs_c": "c.1184_1192delAGGTGTTTT",
"hgvs_p": "p.Glu395_Leu398delinsVal",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000378643.8",
"protein_coding": true,
"protein_id": "NP_004620.1",
"strand": false,
"transcript": "NM_004629.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 622,
"aa_ref": "EVFL",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2556,
"cdna_start": 1610,
"cds_end": null,
"cds_length": 1869,
"cds_start": 1184,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000378643.8",
"gene_hgnc_id": 3588,
"gene_symbol": "FANCG",
"hgvs_c": "c.1184_1192delAGGTGTTTT",
"hgvs_p": "p.Glu395_Leu398delinsVal",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004629.2",
"protein_coding": true,
"protein_id": "ENSP00000367910.4",
"strand": false,
"transcript": "ENST00000378643.8",
"transcript_support_level": 1
},
{
"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": 2108,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000425676.5",
"gene_hgnc_id": 3588,
"gene_symbol": "FANCG",
"hgvs_c": "n.*660_*668delAGGTGTTTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000412793.1",
"strand": false,
"transcript": "ENST00000425676.5",
"transcript_support_level": 1
},
{
"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": 2108,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000425676.5",
"gene_hgnc_id": 3588,
"gene_symbol": "FANCG",
"hgvs_c": "n.*660_*668delAGGTGTTTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000412793.1",
"strand": false,
"transcript": "ENST00000425676.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 622,
"aa_ref": "EVFL",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2353,
"cdna_start": 1415,
"cds_end": null,
"cds_length": 1869,
"cds_start": 1184,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000448890.2",
"gene_hgnc_id": 3588,
"gene_symbol": "FANCG",
"hgvs_c": "c.1184_1192delAGGTGTTTT",
"hgvs_p": "p.Glu395_Leu398delinsVal",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000409607.2",
"strand": false,
"transcript": "ENST00000448890.2",
"transcript_support_level": 3
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 621,
"aa_ref": "EVFL",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2611,
"cdna_start": 1668,
"cds_end": null,
"cds_length": 1866,
"cds_start": 1184,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000881804.1",
"gene_hgnc_id": 3588,
"gene_symbol": "FANCG",
"hgvs_c": "c.1184_1192delAGGTGTTTT",
"hgvs_p": "p.Glu395_Leu398delinsVal",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551863.1",
"strand": false,
"transcript": "ENST00000881804.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 620,
"aa_ref": "EVFL",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2500,
"cdna_start": 1594,
"cds_end": null,
"cds_length": 1863,
"cds_start": 1184,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000696710.1",
"gene_hgnc_id": 3588,
"gene_symbol": "FANCG",
"hgvs_c": "c.1184_1192delAGGTGTTTT",
"hgvs_p": "p.Glu395_Leu398delinsVal",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512826.1",
"strand": false,
"transcript": "ENST00000696710.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 619,
"aa_ref": "EVFL",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2539,
"cdna_start": 1593,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1175,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000938586.1",
"gene_hgnc_id": 3588,
"gene_symbol": "FANCG",
"hgvs_c": "c.1175_1183delAGGTGTTTT",
"hgvs_p": "p.Glu392_Leu395delinsVal",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608645.1",
"strand": false,
"transcript": "ENST00000938586.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 616,
"aa_ref": "EVFL",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5059,
"cdna_start": 4094,
"cds_end": null,
"cds_length": 1851,
"cds_start": 1166,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000960438.1",
"gene_hgnc_id": 3588,
"gene_symbol": "FANCG",
"hgvs_c": "c.1166_1174delAGGTGTTTT",
"hgvs_p": "p.Glu389_Leu392delinsVal",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630497.1",
"strand": false,
"transcript": "ENST00000960438.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 615,
"aa_ref": "EVFL",
"aa_start": 388,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2532,
"cdna_start": 1588,
"cds_end": null,
"cds_length": 1848,
"cds_start": 1163,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000881805.1",
"gene_hgnc_id": 3588,
"gene_symbol": "FANCG",
"hgvs_c": "c.1163_1171delAGGTGTTTT",
"hgvs_p": "p.Glu388_Leu391delinsVal",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551864.1",
"strand": false,
"transcript": "ENST00000881805.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 615,
"aa_ref": "EVFL",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2255,
"cdna_start": 1313,
"cds_end": null,
"cds_length": 1848,
"cds_start": 1166,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000960443.1",
"gene_hgnc_id": 3588,
"gene_symbol": "FANCG",
"hgvs_c": "c.1166_1174delAGGTGTTTT",
"hgvs_p": "p.Glu389_Leu392delinsVal",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630502.1",
"strand": false,
"transcript": "ENST00000960443.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 587,
"aa_ref": "EVFL",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2528,
"cdna_start": 1594,
"cds_end": null,
"cds_length": 1764,
"cds_start": 1184,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000696715.1",
"gene_hgnc_id": 3588,
"gene_symbol": "FANCG",
"hgvs_c": "c.1184_1192delAGGTGTTTT",
"hgvs_p": "p.Glu395_Leu398delinsVal",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512828.1",
"strand": false,
"transcript": "ENST00000696715.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 585,
"aa_ref": "EVFL",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2065,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 1758,
"cds_start": 1073,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000881807.1",
"gene_hgnc_id": 3588,
"gene_symbol": "FANCG",
"hgvs_c": "c.1073_1081delAGGTGTTTT",
"hgvs_p": "p.Glu358_Leu361delinsVal",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551866.1",
"strand": false,
"transcript": "ENST00000881807.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 574,
"aa_ref": "EVFL",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2411,
"cdna_start": 1609,
"cds_end": null,
"cds_length": 1725,
"cds_start": 1184,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000960441.1",
"gene_hgnc_id": 3588,
"gene_symbol": "FANCG",
"hgvs_c": "c.1184_1192delAGGTGTTTT",
"hgvs_p": "p.Glu395_Leu398delinsVal",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630500.1",
"strand": false,
"transcript": "ENST00000960441.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 570,
"aa_ref": "EVFL",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2453,
"cdna_start": 1663,
"cds_end": null,
"cds_length": 1713,
"cds_start": 1184,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000960439.1",
"gene_hgnc_id": 3588,
"gene_symbol": "FANCG",
"hgvs_c": "c.1184_1192delAGGTGTTTT",
"hgvs_p": "p.Glu395_Leu398delinsVal",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630498.1",
"strand": false,
"transcript": "ENST00000960439.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 564,
"aa_ref": "EVFL",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2195,
"cdna_start": 1406,
"cds_end": null,
"cds_length": 1695,
"cds_start": 1166,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000960442.1",
"gene_hgnc_id": 3588,
"gene_symbol": "FANCG",
"hgvs_c": "c.1166_1174delAGGTGTTTT",
"hgvs_p": "p.Glu389_Leu392delinsVal",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630501.1",
"strand": false,
"transcript": "ENST00000960442.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 448,
"aa_ref": "EVFL",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2035,
"cdna_start": 1089,
"cds_end": null,
"cds_length": 1347,
"cds_start": 662,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000960440.1",
"gene_hgnc_id": 3588,
"gene_symbol": "FANCG",
"hgvs_c": "c.662_670delAGGTGTTTT",
"hgvs_p": "p.Glu221_Leu224delinsVal",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630499.1",
"strand": false,
"transcript": "ENST00000960440.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 573,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2222,
"cdna_start": null,
"cds_end": null,
"cds_length": 1722,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000881806.1",
"gene_hgnc_id": 3588,
"gene_symbol": "FANCG",
"hgvs_c": "c.1144-107_1144-99delAGGTGTTTT",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551865.1",
"strand": false,
"transcript": "ENST00000881806.1",
"transcript_support_level": null
},
{
"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": 4078,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000461149.2",
"gene_hgnc_id": 3588,
"gene_symbol": "FANCG",
"hgvs_c": "n.2376_2384delAGGTGTTTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000461149.2",
"transcript_support_level": 2
},
{
"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": 3976,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000696700.1",
"gene_hgnc_id": 3588,
"gene_symbol": "FANCG",
"hgvs_c": "n.2411_2419delAGGTGTTTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000696700.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
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