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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: 5-154002258-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=154002258&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "FAM114A2",
"hgnc_id": 1333,
"hgvs_c": "c.1249C>T",
"hgvs_p": "p.Leu417Phe",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_018691.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 17,
"alphamissense_prediction": null,
"alphamissense_score": 0.2179,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.03,
"chr": "5",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5364757776260376,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 505,
"aa_ref": "L",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4414,
"cdna_start": 1317,
"cds_end": null,
"cds_length": 1518,
"cds_start": 1249,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_018691.4",
"gene_hgnc_id": 1333,
"gene_symbol": "FAM114A2",
"hgvs_c": "c.1249C>T",
"hgvs_p": "p.Leu417Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000351797.9",
"protein_coding": true,
"protein_id": "NP_061161.2",
"strand": false,
"transcript": "NM_018691.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 505,
"aa_ref": "L",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4414,
"cdna_start": 1317,
"cds_end": null,
"cds_length": 1518,
"cds_start": 1249,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000351797.9",
"gene_hgnc_id": 1333,
"gene_symbol": "FAM114A2",
"hgvs_c": "c.1249C>T",
"hgvs_p": "p.Leu417Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018691.4",
"protein_coding": true,
"protein_id": "ENSP00000341597.4",
"strand": false,
"transcript": "ENST00000351797.9",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 505,
"aa_ref": "L",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2121,
"cdna_start": 1375,
"cds_end": null,
"cds_length": 1518,
"cds_start": 1249,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000520667.5",
"gene_hgnc_id": 1333,
"gene_symbol": "FAM114A2",
"hgvs_c": "c.1249C>T",
"hgvs_p": "p.Leu417Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430384.1",
"strand": false,
"transcript": "ENST00000520667.5",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 505,
"aa_ref": "L",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3379,
"cdna_start": 1837,
"cds_end": null,
"cds_length": 1518,
"cds_start": 1249,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000522858.5",
"gene_hgnc_id": 1333,
"gene_symbol": "FAM114A2",
"hgvs_c": "c.1249C>T",
"hgvs_p": "p.Leu417Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430489.1",
"strand": false,
"transcript": "ENST00000522858.5",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 505,
"aa_ref": "L",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4461,
"cdna_start": 1364,
"cds_end": null,
"cds_length": 1518,
"cds_start": 1249,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001317993.2",
"gene_hgnc_id": 1333,
"gene_symbol": "FAM114A2",
"hgvs_c": "c.1249C>T",
"hgvs_p": "p.Leu417Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001304922.1",
"strand": false,
"transcript": "NM_001317993.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 505,
"aa_ref": "L",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4978,
"cdna_start": 1881,
"cds_end": null,
"cds_length": 1518,
"cds_start": 1249,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001317994.2",
"gene_hgnc_id": 1333,
"gene_symbol": "FAM114A2",
"hgvs_c": "c.1249C>T",
"hgvs_p": "p.Leu417Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001304923.1",
"strand": false,
"transcript": "NM_001317994.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 505,
"aa_ref": "L",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2962,
"cdna_start": 1410,
"cds_end": null,
"cds_length": 1518,
"cds_start": 1249,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000907992.1",
"gene_hgnc_id": 1333,
"gene_symbol": "FAM114A2",
"hgvs_c": "c.1249C>T",
"hgvs_p": "p.Leu417Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578051.1",
"strand": false,
"transcript": "ENST00000907992.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 505,
"aa_ref": "L",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3116,
"cdna_start": 1564,
"cds_end": null,
"cds_length": 1518,
"cds_start": 1249,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000907994.1",
"gene_hgnc_id": 1333,
"gene_symbol": "FAM114A2",
"hgvs_c": "c.1249C>T",
"hgvs_p": "p.Leu417Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578053.1",
"strand": false,
"transcript": "ENST00000907994.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 505,
"aa_ref": "L",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2962,
"cdna_start": 1428,
"cds_end": null,
"cds_length": 1518,
"cds_start": 1249,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000907995.1",
"gene_hgnc_id": 1333,
"gene_symbol": "FAM114A2",
"hgvs_c": "c.1249C>T",
"hgvs_p": "p.Leu417Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578054.1",
"strand": false,
"transcript": "ENST00000907995.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 505,
"aa_ref": "L",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2130,
"cdna_start": 1391,
"cds_end": null,
"cds_length": 1518,
"cds_start": 1249,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000907996.1",
"gene_hgnc_id": 1333,
"gene_symbol": "FAM114A2",
"hgvs_c": "c.1249C>T",
"hgvs_p": "p.Leu417Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578055.1",
"strand": false,
"transcript": "ENST00000907996.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 505,
"aa_ref": "L",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5363,
"cdna_start": 3883,
"cds_end": null,
"cds_length": 1518,
"cds_start": 1249,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000907997.1",
"gene_hgnc_id": 1333,
"gene_symbol": "FAM114A2",
"hgvs_c": "c.1249C>T",
"hgvs_p": "p.Leu417Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578056.1",
"strand": false,
"transcript": "ENST00000907997.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 505,
"aa_ref": "L",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2757,
"cdna_start": 2011,
"cds_end": null,
"cds_length": 1518,
"cds_start": 1249,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000937548.1",
"gene_hgnc_id": 1333,
"gene_symbol": "FAM114A2",
"hgvs_c": "c.1249C>T",
"hgvs_p": "p.Leu417Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607607.1",
"strand": false,
"transcript": "ENST00000937548.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 505,
"aa_ref": "L",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2714,
"cdna_start": 1968,
"cds_end": null,
"cds_length": 1518,
"cds_start": 1249,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000937549.1",
"gene_hgnc_id": 1333,
"gene_symbol": "FAM114A2",
"hgvs_c": "c.1249C>T",
"hgvs_p": "p.Leu417Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607608.1",
"strand": false,
"transcript": "ENST00000937549.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 505,
"aa_ref": "L",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3017,
"cdna_start": 1465,
"cds_end": null,
"cds_length": 1518,
"cds_start": 1249,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000946804.1",
"gene_hgnc_id": 1333,
"gene_symbol": "FAM114A2",
"hgvs_c": "c.1249C>T",
"hgvs_p": "p.Leu417Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616863.1",
"strand": false,
"transcript": "ENST00000946804.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 505,
"aa_ref": "L",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3285,
"cdna_start": 1808,
"cds_end": null,
"cds_length": 1518,
"cds_start": 1249,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000946807.1",
"gene_hgnc_id": 1333,
"gene_symbol": "FAM114A2",
"hgvs_c": "c.1249C>T",
"hgvs_p": "p.Leu417Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616866.1",
"strand": false,
"transcript": "ENST00000946807.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 505,
"aa_ref": "L",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2406,
"cdna_start": 1604,
"cds_end": null,
"cds_length": 1518,
"cds_start": 1249,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000946809.1",
"gene_hgnc_id": 1333,
"gene_symbol": "FAM114A2",
"hgvs_c": "c.1249C>T",
"hgvs_p": "p.Leu417Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616868.1",
"strand": false,
"transcript": "ENST00000946809.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 505,
"aa_ref": "L",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2186,
"cdna_start": 1445,
"cds_end": null,
"cds_length": 1518,
"cds_start": 1249,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000946810.1",
"gene_hgnc_id": 1333,
"gene_symbol": "FAM114A2",
"hgvs_c": "c.1249C>T",
"hgvs_p": "p.Leu417Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616869.1",
"strand": false,
"transcript": "ENST00000946810.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 505,
"aa_ref": "L",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2247,
"cdna_start": 1508,
"cds_end": null,
"cds_length": 1518,
"cds_start": 1249,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000946811.1",
"gene_hgnc_id": 1333,
"gene_symbol": "FAM114A2",
"hgvs_c": "c.1249C>T",
"hgvs_p": "p.Leu417Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616870.1",
"strand": false,
"transcript": "ENST00000946811.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 505,
"aa_ref": "L",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2531,
"cdna_start": 1795,
"cds_end": null,
"cds_length": 1518,
"cds_start": 1249,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000946812.1",
"gene_hgnc_id": 1333,
"gene_symbol": "FAM114A2",
"hgvs_c": "c.1249C>T",
"hgvs_p": "p.Leu417Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616871.1",
"strand": false,
"transcript": "ENST00000946812.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 503,
"aa_ref": "L",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2848,
"cdna_start": 1314,
"cds_end": null,
"cds_length": 1512,
"cds_start": 1243,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000946806.1",
"gene_hgnc_id": 1333,
"gene_symbol": "FAM114A2",
"hgvs_c": "c.1243C>T",
"hgvs_p": "p.Leu415Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616865.1",
"strand": false,
"transcript": "ENST00000946806.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 503,
"aa_ref": "L",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2768,
"cdna_start": 1290,
"cds_end": null,
"cds_length": 1512,
"cds_start": 1243,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000946808.1",
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