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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: 6-4115909-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=4115909&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"BP4_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ECI2",
"hgnc_id": 14601,
"hgvs_c": "c.1150G>A",
"hgvs_p": "p.Val384Met",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_206836.3",
"verdict": "Benign"
},
{
"benign_score": 8,
"criteria": [
"BP4_Strong",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "TEX56P",
"hgnc_id": null,
"hgvs_c": "n.664-6040C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -8,
"transcript": "ENST00000427996.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_score": -8,
"allele_count_reference_population": 2189,
"alphamissense_prediction": null,
"alphamissense_score": 0.1336,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.41,
"chr": "6",
"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": 0.0260370671749115,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 394,
"aa_ref": "V",
"aa_start": 384,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1368,
"cdna_start": 1165,
"cds_end": null,
"cds_length": 1185,
"cds_start": 1150,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_206836.3",
"gene_hgnc_id": 14601,
"gene_symbol": "ECI2",
"hgvs_c": "c.1150G>A",
"hgvs_p": "p.Val384Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000380118.8",
"protein_coding": true,
"protein_id": "NP_996667.2",
"strand": false,
"transcript": "NM_206836.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 394,
"aa_ref": "V",
"aa_start": 384,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1368,
"cdna_start": 1165,
"cds_end": null,
"cds_length": 1185,
"cds_start": 1150,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000380118.8",
"gene_hgnc_id": 14601,
"gene_symbol": "ECI2",
"hgvs_c": "c.1150G>A",
"hgvs_p": "p.Val384Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_206836.3",
"protein_coding": true,
"protein_id": "ENSP00000369461.3",
"strand": false,
"transcript": "ENST00000380118.8",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 364,
"aa_ref": "V",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1380,
"cdna_start": 1177,
"cds_end": null,
"cds_length": 1095,
"cds_start": 1060,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000361538.6",
"gene_hgnc_id": 14601,
"gene_symbol": "ECI2",
"hgvs_c": "c.1060G>A",
"hgvs_p": "p.Val354Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354737.2",
"strand": false,
"transcript": "ENST00000361538.6",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 364,
"aa_ref": "V",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1405,
"cdna_start": 1189,
"cds_end": null,
"cds_length": 1095,
"cds_start": 1060,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000380125.6",
"gene_hgnc_id": 14601,
"gene_symbol": "ECI2",
"hgvs_c": "c.1060G>A",
"hgvs_p": "p.Val354Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000369468.2",
"strand": false,
"transcript": "ENST00000380125.6",
"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": 1451,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000496241.6",
"gene_hgnc_id": 14601,
"gene_symbol": "ECI2",
"hgvs_c": "n.*708G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000417170.2",
"strand": false,
"transcript": "ENST00000496241.6",
"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": 1451,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000496241.6",
"gene_hgnc_id": 14601,
"gene_symbol": "ECI2",
"hgvs_c": "n.*708G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000417170.2",
"strand": false,
"transcript": "ENST00000496241.6",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 424,
"aa_ref": "V",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1459,
"cdna_start": 1263,
"cds_end": null,
"cds_length": 1275,
"cds_start": 1240,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000866744.1",
"gene_hgnc_id": 14601,
"gene_symbol": "ECI2",
"hgvs_c": "c.1240G>A",
"hgvs_p": "p.Val414Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536802.1",
"strand": false,
"transcript": "ENST00000866744.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 404,
"aa_ref": "V",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1426,
"cdna_start": 1211,
"cds_end": null,
"cds_length": 1215,
"cds_start": 1180,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000866741.1",
"gene_hgnc_id": 14601,
"gene_symbol": "ECI2",
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Val394Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536800.1",
"strand": false,
"transcript": "ENST00000866741.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 364,
"aa_ref": "V",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1392,
"cdna_start": 1189,
"cds_end": null,
"cds_length": 1095,
"cds_start": 1060,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001166010.2",
"gene_hgnc_id": 14601,
"gene_symbol": "ECI2",
"hgvs_c": "c.1060G>A",
"hgvs_p": "p.Val354Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001159482.1",
"strand": false,
"transcript": "NM_001166010.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 364,
"aa_ref": "V",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1358,
"cdna_start": 1155,
"cds_end": null,
"cds_length": 1095,
"cds_start": 1060,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_006117.3",
"gene_hgnc_id": 14601,
"gene_symbol": "ECI2",
"hgvs_c": "c.1060G>A",
"hgvs_p": "p.Val354Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_006108.2",
"strand": false,
"transcript": "NM_006117.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 364,
"aa_ref": "V",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1548,
"cdna_start": 1346,
"cds_end": null,
"cds_length": 1095,
"cds_start": 1060,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000465828.5",
"gene_hgnc_id": 14601,
"gene_symbol": "ECI2",
"hgvs_c": "c.1060G>A",
"hgvs_p": "p.Val354Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420309.1",
"strand": false,
"transcript": "ENST00000465828.5",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 364,
"aa_ref": "V",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1321,
"cdna_start": 1097,
"cds_end": null,
"cds_length": 1095,
"cds_start": 1060,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000866740.1",
"gene_hgnc_id": 14601,
"gene_symbol": "ECI2",
"hgvs_c": "c.1060G>A",
"hgvs_p": "p.Val354Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536799.1",
"strand": false,
"transcript": "ENST00000866740.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 346,
"aa_ref": "V",
"aa_start": 336,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1227,
"cdna_start": 1021,
"cds_end": null,
"cds_length": 1041,
"cds_start": 1006,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000866743.1",
"gene_hgnc_id": 14601,
"gene_symbol": "ECI2",
"hgvs_c": "c.1006G>A",
"hgvs_p": "p.Val336Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536801.1",
"strand": false,
"transcript": "ENST00000866743.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 331,
"aa_ref": "V",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1180,
"cdna_start": 984,
"cds_end": null,
"cds_length": 996,
"cds_start": 961,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000866745.1",
"gene_hgnc_id": 14601,
"gene_symbol": "ECI2",
"hgvs_c": "c.961G>A",
"hgvs_p": "p.Val321Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536804.1",
"strand": false,
"transcript": "ENST00000866745.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 322,
"aa_ref": "V",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1153,
"cdna_start": 957,
"cds_end": null,
"cds_length": 969,
"cds_start": 934,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000866747.1",
"gene_hgnc_id": 14601,
"gene_symbol": "ECI2",
"hgvs_c": "c.934G>A",
"hgvs_p": "p.Val312Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536806.1",
"strand": false,
"transcript": "ENST00000866747.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 316,
"aa_ref": "V",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1133,
"cdna_start": 930,
"cds_end": null,
"cds_length": 951,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000866749.1",
"gene_hgnc_id": 14601,
"gene_symbol": "ECI2",
"hgvs_c": "c.916G>A",
"hgvs_p": "p.Val306Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536807.1",
"strand": false,
"transcript": "ENST00000866749.1",
"transcript_support_level": null
},
{
"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": 1469,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000380120.6",
"gene_hgnc_id": 14601,
"gene_symbol": "ECI2",
"hgvs_c": "n.*773G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000369463.2",
"strand": false,
"transcript": "ENST00000380120.6",
"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": 2122,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000464057.5",
"gene_hgnc_id": 14601,
"gene_symbol": "ECI2",
"hgvs_c": "n.1919G>A",
"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": "ENST00000464057.5",
"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": 3870,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000464583.5",
"gene_hgnc_id": 14601,
"gene_symbol": "ECI2",
"hgvs_c": "n.3669G>A",
"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": "ENST00000464583.5",
"transcript_support_level": 2
},
{
"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": 1133,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000478266.6",
"gene_hgnc_id": 14601,
"gene_symbol": "ECI2",
"hgvs_c": "n.*332G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000417803.2",
"strand": false,
"transcript": "ENST00000478266.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1429,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
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],
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