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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: 3-157363703-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=157363703&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "VEPH1",
"hgnc_id": 25735,
"hgvs_c": "c.1396G>A",
"hgvs_p": "p.Glu466Lys",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_024621.2",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LINC00881",
"hgnc_id": 48567,
"hgvs_c": "n.332-17411C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -4,
"transcript": "ENST00000487238.5",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC101928236",
"hgnc_id": null,
"hgvs_c": "n.7553-7700C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -4,
"transcript": "XR_007096141.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 257,
"alphamissense_prediction": null,
"alphamissense_score": 0.0725,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.6,
"chr": "3",
"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": 0.00902518630027771,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 833,
"aa_ref": "E",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4191,
"cdna_start": 1693,
"cds_end": null,
"cds_length": 2502,
"cds_start": 1396,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001167912.2",
"gene_hgnc_id": 25735,
"gene_symbol": "VEPH1",
"hgvs_c": "c.1396G>A",
"hgvs_p": "p.Glu466Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000362010.7",
"protein_coding": true,
"protein_id": "NP_001161384.1",
"strand": false,
"transcript": "NM_001167912.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 833,
"aa_ref": "E",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4191,
"cdna_start": 1693,
"cds_end": null,
"cds_length": 2502,
"cds_start": 1396,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000362010.7",
"gene_hgnc_id": 25735,
"gene_symbol": "VEPH1",
"hgvs_c": "c.1396G>A",
"hgvs_p": "p.Glu466Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001167912.2",
"protein_coding": true,
"protein_id": "ENSP00000354919.2",
"strand": false,
"transcript": "ENST00000362010.7",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 788,
"aa_ref": "E",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3979,
"cdna_start": 1616,
"cds_end": null,
"cds_length": 2367,
"cds_start": 1396,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000392833.6",
"gene_hgnc_id": 25735,
"gene_symbol": "VEPH1",
"hgvs_c": "c.1396G>A",
"hgvs_p": "p.Glu466Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376578.2",
"strand": false,
"transcript": "ENST00000392833.6",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 833,
"aa_ref": "E",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4313,
"cdna_start": 1815,
"cds_end": null,
"cds_length": 2502,
"cds_start": 1396,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_024621.2",
"gene_hgnc_id": 25735,
"gene_symbol": "VEPH1",
"hgvs_c": "c.1396G>A",
"hgvs_p": "p.Glu466Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_078897.2",
"strand": false,
"transcript": "NM_024621.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 833,
"aa_ref": "E",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3044,
"cdna_start": 1713,
"cds_end": null,
"cds_length": 2502,
"cds_start": 1396,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000392832.6",
"gene_hgnc_id": 25735,
"gene_symbol": "VEPH1",
"hgvs_c": "c.1396G>A",
"hgvs_p": "p.Glu466Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376577.2",
"strand": false,
"transcript": "ENST00000392832.6",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 833,
"aa_ref": "E",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4464,
"cdna_start": 1966,
"cds_end": null,
"cds_length": 2502,
"cds_start": 1396,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000873027.1",
"gene_hgnc_id": 25735,
"gene_symbol": "VEPH1",
"hgvs_c": "c.1396G>A",
"hgvs_p": "p.Glu466Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543086.1",
"strand": false,
"transcript": "ENST00000873027.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 788,
"aa_ref": "E",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4056,
"cdna_start": 1693,
"cds_end": null,
"cds_length": 2367,
"cds_start": 1396,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001167911.2",
"gene_hgnc_id": 25735,
"gene_symbol": "VEPH1",
"hgvs_c": "c.1396G>A",
"hgvs_p": "p.Glu466Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001161383.1",
"strand": false,
"transcript": "NM_001167911.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 763,
"aa_ref": "E",
"aa_start": 396,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3026,
"cdna_start": 1477,
"cds_end": null,
"cds_length": 2292,
"cds_start": 1186,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000873028.1",
"gene_hgnc_id": 25735,
"gene_symbol": "VEPH1",
"hgvs_c": "c.1186G>A",
"hgvs_p": "p.Glu396Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543087.1",
"strand": false,
"transcript": "ENST00000873028.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 761,
"aa_ref": "E",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4188,
"cdna_start": 1694,
"cds_end": null,
"cds_length": 2286,
"cds_start": 1180,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000970316.1",
"gene_hgnc_id": 25735,
"gene_symbol": "VEPH1",
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Glu394Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640375.1",
"strand": false,
"transcript": "ENST00000970316.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 844,
"aa_ref": "E",
"aa_start": 477,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3996,
"cdna_start": 1498,
"cds_end": null,
"cds_length": 2535,
"cds_start": 1429,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011513134.3",
"gene_hgnc_id": 25735,
"gene_symbol": "VEPH1",
"hgvs_c": "c.1429G>A",
"hgvs_p": "p.Glu477Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011511436.1",
"strand": false,
"transcript": "XM_011513134.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 833,
"aa_ref": "E",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4453,
"cdna_start": 1955,
"cds_end": null,
"cds_length": 2502,
"cds_start": 1396,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_024453746.2",
"gene_hgnc_id": 25735,
"gene_symbol": "VEPH1",
"hgvs_c": "c.1396G>A",
"hgvs_p": "p.Glu466Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024309514.1",
"strand": false,
"transcript": "XM_024453746.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 833,
"aa_ref": "E",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4448,
"cdna_start": 1950,
"cds_end": null,
"cds_length": 2502,
"cds_start": 1396,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_024453747.2",
"gene_hgnc_id": 25735,
"gene_symbol": "VEPH1",
"hgvs_c": "c.1396G>A",
"hgvs_p": "p.Glu466Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024309515.1",
"strand": false,
"transcript": "XM_024453747.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 833,
"aa_ref": "E",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4186,
"cdna_start": 1688,
"cds_end": null,
"cds_length": 2502,
"cds_start": 1396,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_024453748.2",
"gene_hgnc_id": 25735,
"gene_symbol": "VEPH1",
"hgvs_c": "c.1396G>A",
"hgvs_p": "p.Glu466Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024309516.1",
"strand": false,
"transcript": "XM_024453748.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 788,
"aa_ref": "E",
"aa_start": 421,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3861,
"cdna_start": 1363,
"cds_end": null,
"cds_length": 2367,
"cds_start": 1261,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011513135.3",
"gene_hgnc_id": 25735,
"gene_symbol": "VEPH1",
"hgvs_c": "c.1261G>A",
"hgvs_p": "p.Glu421Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011511437.1",
"strand": false,
"transcript": "XM_011513135.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 788,
"aa_ref": "E",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4318,
"cdna_start": 1955,
"cds_end": null,
"cds_length": 2367,
"cds_start": 1396,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047448921.1",
"gene_hgnc_id": 25735,
"gene_symbol": "VEPH1",
"hgvs_c": "c.1396G>A",
"hgvs_p": "p.Glu466Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304877.1",
"strand": false,
"transcript": "XM_047448921.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 788,
"aa_ref": "E",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4051,
"cdna_start": 1688,
"cds_end": null,
"cds_length": 2367,
"cds_start": 1396,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047448922.1",
"gene_hgnc_id": 25735,
"gene_symbol": "VEPH1",
"hgvs_c": "c.1396G>A",
"hgvs_p": "p.Glu466Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304878.1",
"strand": false,
"transcript": "XM_047448922.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 721,
"aa_ref": "E",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4157,
"cdna_start": 1659,
"cds_end": null,
"cds_length": 2166,
"cds_start": 1060,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047448923.1",
"gene_hgnc_id": 25735,
"gene_symbol": "VEPH1",
"hgvs_c": "c.1060G>A",
"hgvs_p": "p.Glu354Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304879.1",
"strand": false,
"transcript": "XM_047448923.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 721,
"aa_ref": "E",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3969,
"cdna_start": 1471,
"cds_end": null,
"cds_length": 2166,
"cds_start": 1060,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047448924.1",
"gene_hgnc_id": 25735,
"gene_symbol": "VEPH1",
"hgvs_c": "c.1060G>A",
"hgvs_p": "p.Glu354Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304880.1",
"strand": false,
"transcript": "XM_047448924.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 721,
"aa_ref": "E",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3831,
"cdna_start": 1333,
"cds_end": null,
"cds_length": 2166,
"cds_start": 1060,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047448925.1",
"gene_hgnc_id": 25735,
"gene_symbol": "VEPH1",
"hgvs_c": "c.1060G>A",
"hgvs_p": "p.Glu354Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304881.1",
"strand": false,
"transcript": "XM_047448925.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 721,
"aa_ref": "E",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3928,
"cdna_start": 1430,
"cds_end": null,
"cds_length": 2166,
"cds_start": 1060,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047448926.1",
"gene_hgnc_id": 25735,
"gene_symbol": "VEPH1",
"hgvs_c": "c.1060G>A",
"hgvs_p": "p.Glu354Lys",
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