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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: 4-186284163-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=186284163&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM1",
"PM2",
"PP2",
"PP3_Moderate",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "F11",
"hgnc_id": 3529,
"hgvs_c": "c.1207G>A",
"hgvs_p": "p.Val403Met",
"inheritance_mode": "AR,AD,SD",
"pathogenic_score": 19,
"score": 19,
"transcript": "NM_000128.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM1,PM2,PP2,PP3_Moderate,PP5_Very_Strong",
"acmg_score": 19,
"allele_count_reference_population": 5,
"alphamissense_prediction": null,
"alphamissense_score": 0.2251,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.33,
"chr": "4",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": "Coagulation factor deficiency syndrome,Hereditary factor XI deficiency disease,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:2 O:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8917904496192932,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 625,
"aa_ref": "V",
"aa_start": 403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3053,
"cdna_start": 1315,
"cds_end": null,
"cds_length": 1878,
"cds_start": 1207,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_000128.4",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.1207G>A",
"hgvs_p": "p.Val403Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000403665.7",
"protein_coding": true,
"protein_id": "NP_000119.1",
"strand": true,
"transcript": "NM_000128.4",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 625,
"aa_ref": "V",
"aa_start": 403,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3053,
"cdna_start": 1315,
"cds_end": null,
"cds_length": 1878,
"cds_start": 1207,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000403665.7",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.1207G>A",
"hgvs_p": "p.Val403Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000128.4",
"protein_coding": true,
"protein_id": "ENSP00000384957.2",
"strand": true,
"transcript": "ENST00000403665.7",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 687,
"aa_ref": "V",
"aa_start": 403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2317,
"cdna_start": 1294,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1207,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000886358.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.1207G>A",
"hgvs_p": "p.Val403Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556417.1",
"strand": true,
"transcript": "ENST00000886358.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 625,
"aa_ref": "V",
"aa_start": 403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4679,
"cdna_start": 1349,
"cds_end": null,
"cds_length": 1878,
"cds_start": 1207,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000886339.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.1207G>A",
"hgvs_p": "p.Val403Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556398.1",
"strand": true,
"transcript": "ENST00000886339.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 625,
"aa_ref": "V",
"aa_start": 403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4282,
"cdna_start": 1520,
"cds_end": null,
"cds_length": 1878,
"cds_start": 1207,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000886343.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.1207G>A",
"hgvs_p": "p.Val403Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556402.1",
"strand": true,
"transcript": "ENST00000886343.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 625,
"aa_ref": "V",
"aa_start": 403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2572,
"cdna_start": 1333,
"cds_end": null,
"cds_length": 1878,
"cds_start": 1207,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000886347.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.1207G>A",
"hgvs_p": "p.Val403Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556406.1",
"strand": true,
"transcript": "ENST00000886347.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 625,
"aa_ref": "V",
"aa_start": 403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2674,
"cdna_start": 1317,
"cds_end": null,
"cds_length": 1878,
"cds_start": 1207,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000886351.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.1207G>A",
"hgvs_p": "p.Val403Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556410.1",
"strand": true,
"transcript": "ENST00000886351.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 625,
"aa_ref": "V",
"aa_start": 403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2248,
"cdna_start": 1412,
"cds_end": null,
"cds_length": 1878,
"cds_start": 1207,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000886352.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.1207G>A",
"hgvs_p": "p.Val403Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556411.1",
"strand": true,
"transcript": "ENST00000886352.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 625,
"aa_ref": "V",
"aa_start": 403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2243,
"cdna_start": 1406,
"cds_end": null,
"cds_length": 1878,
"cds_start": 1207,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000886355.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.1207G>A",
"hgvs_p": "p.Val403Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556414.1",
"strand": true,
"transcript": "ENST00000886355.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 625,
"aa_ref": "V",
"aa_start": 403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2178,
"cdna_start": 1341,
"cds_end": null,
"cds_length": 1878,
"cds_start": 1207,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000886360.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.1207G>A",
"hgvs_p": "p.Val403Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556419.1",
"strand": true,
"transcript": "ENST00000886360.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 612,
"aa_ref": "V",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2070,
"cdna_start": 1229,
"cds_end": null,
"cds_length": 1839,
"cds_start": 1168,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000886359.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.1168G>A",
"hgvs_p": "p.Val390Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556418.1",
"strand": true,
"transcript": "ENST00000886359.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_length": 609,
"aa_ref": "V",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4034,
"cdna_start": 1267,
"cds_end": null,
"cds_length": 1830,
"cds_start": 1159,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001440590.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.1159G>A",
"hgvs_p": "p.Val387Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427519.1",
"strand": true,
"transcript": "NM_001440590.1",
"transcript_support_level": null
},
{
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"aa_length": 609,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4299,
"cdna_start": 1517,
"cds_end": null,
"cds_length": 1830,
"cds_start": 1159,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000886342.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.1159G>A",
"hgvs_p": "p.Val387Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556401.1",
"strand": true,
"transcript": "ENST00000886342.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 593,
"aa_ref": "V",
"aa_start": 403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3986,
"cdna_start": 1315,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1207,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001440593.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.1207G>A",
"hgvs_p": "p.Val403Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427522.1",
"strand": true,
"transcript": "NM_001440593.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_length": 577,
"aa_ref": "V",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3938,
"cdna_start": 1267,
"cds_end": null,
"cds_length": 1734,
"cds_start": 1159,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001440596.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.1159G>A",
"hgvs_p": "p.Val387Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427525.1",
"strand": true,
"transcript": "NM_001440596.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 575,
"aa_ref": "V",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1998,
"cdna_start": 1041,
"cds_end": null,
"cds_length": 1728,
"cds_start": 937,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000886357.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Val313Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556416.1",
"strand": true,
"transcript": "ENST00000886357.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 535,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3812,
"cdna_start": 1045,
"cds_end": null,
"cds_length": 1608,
"cds_start": 937,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001440605.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Val313Met",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427534.1",
"strand": true,
"transcript": "NM_001440605.1",
"transcript_support_level": null
},
{
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"aa_ref": "V",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 1050,
"cds_end": null,
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"cds_start": 937,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000886340.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Val313Met",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556399.1",
"strand": true,
"transcript": "ENST00000886340.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_length": 535,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": 1332,
"cds_end": null,
"cds_length": 1608,
"cds_start": 937,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000886341.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Val313Met",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556400.1",
"strand": true,
"transcript": "ENST00000886341.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 535,
"aa_ref": "V",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1948,
"cdna_start": 1073,
"cds_end": null,
"cds_length": 1608,
"cds_start": 937,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000886348.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Val313Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556407.1",
"strand": true,
"transcript": "ENST00000886348.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 535,
"aa_ref": "V",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2596,
"cdna_start": 1239,
"cds_end": null,
"cds_length": 1608,
"cds_start": 937,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000886350.1",
"gene_hgnc_id": 3529,
"gene_symbol": "F11",
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