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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: 16-69694071-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=69694071&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NFAT5",
"hgnc_id": 7774,
"hgvs_c": "c.4246C>T",
"hgvs_p": "p.Leu1416Phe",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_138713.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.0837,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.25,
"chr": "16",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Immunodeficiency",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.23497843742370605,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1549,
"aa_ref": "L",
"aa_start": 1416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13289,
"cdna_start": 4582,
"cds_end": null,
"cds_length": 4650,
"cds_start": 4246,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_138713.4",
"gene_hgnc_id": 7774,
"gene_symbol": "NFAT5",
"hgvs_c": "c.4246C>T",
"hgvs_p": "p.Leu1416Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000349945.7",
"protein_coding": true,
"protein_id": "NP_619727.2",
"strand": true,
"transcript": "NM_138713.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1549,
"aa_ref": "L",
"aa_start": 1416,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 13289,
"cdna_start": 4582,
"cds_end": null,
"cds_length": 4650,
"cds_start": 4246,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000349945.7",
"gene_hgnc_id": 7774,
"gene_symbol": "NFAT5",
"hgvs_c": "c.4246C>T",
"hgvs_p": "p.Leu1416Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_138713.4",
"protein_coding": true,
"protein_id": "ENSP00000338806.3",
"strand": true,
"transcript": "ENST00000349945.7",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1548,
"aa_ref": "L",
"aa_start": 1415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6376,
"cdna_start": 4483,
"cds_end": null,
"cds_length": 4647,
"cds_start": 4243,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000567239.5",
"gene_hgnc_id": 7774,
"gene_symbol": "NFAT5",
"hgvs_c": "c.4243C>T",
"hgvs_p": "p.Leu1415Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457593.1",
"strand": true,
"transcript": "ENST00000567239.5",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1531,
"aa_ref": "L",
"aa_start": 1398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13229,
"cdna_start": 4510,
"cds_end": null,
"cds_length": 4596,
"cds_start": 4192,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000354436.6",
"gene_hgnc_id": 7774,
"gene_symbol": "NFAT5",
"hgvs_c": "c.4192C>T",
"hgvs_p": "p.Leu1398Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000346420.2",
"strand": true,
"transcript": "ENST00000354436.6",
"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": 13067,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000393742.7",
"gene_hgnc_id": 7774,
"gene_symbol": "NFAT5",
"hgvs_c": "n.*4008C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000377343.3",
"strand": true,
"transcript": "ENST00000393742.7",
"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": 14219,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000426654.6",
"gene_hgnc_id": 7774,
"gene_symbol": "NFAT5",
"hgvs_c": "n.*4008C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000413126.2",
"strand": true,
"transcript": "ENST00000426654.6",
"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": 4914,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000566899.6",
"gene_hgnc_id": 7774,
"gene_symbol": "NFAT5",
"hgvs_c": "n.*4008C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000455628.2",
"strand": true,
"transcript": "ENST00000566899.6",
"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": 13067,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000393742.7",
"gene_hgnc_id": 7774,
"gene_symbol": "NFAT5",
"hgvs_c": "n.*4008C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000377343.3",
"strand": true,
"transcript": "ENST00000393742.7",
"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": 14219,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000426654.6",
"gene_hgnc_id": 7774,
"gene_symbol": "NFAT5",
"hgvs_c": "n.*4008C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000413126.2",
"strand": true,
"transcript": "ENST00000426654.6",
"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": 4914,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000566899.6",
"gene_hgnc_id": 7774,
"gene_symbol": "NFAT5",
"hgvs_c": "n.*4008C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000455628.2",
"strand": true,
"transcript": "ENST00000566899.6",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1548,
"aa_ref": "L",
"aa_start": 1415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13286,
"cdna_start": 4579,
"cds_end": null,
"cds_length": 4647,
"cds_start": 4243,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001113178.3",
"gene_hgnc_id": 7774,
"gene_symbol": "NFAT5",
"hgvs_c": "c.4243C>T",
"hgvs_p": "p.Leu1415Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001106649.1",
"strand": true,
"transcript": "NM_001113178.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1531,
"aa_ref": "L",
"aa_start": 1398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13235,
"cdna_start": 4528,
"cds_end": null,
"cds_length": 4596,
"cds_start": 4192,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_006599.4",
"gene_hgnc_id": 7774,
"gene_symbol": "NFAT5",
"hgvs_c": "c.4192C>T",
"hgvs_p": "p.Leu1398Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_006590.1",
"strand": true,
"transcript": "NM_006599.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1530,
"aa_ref": "L",
"aa_start": 1397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6048,
"cdna_start": 4525,
"cds_end": null,
"cds_length": 4593,
"cds_start": 4189,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000896455.1",
"gene_hgnc_id": 7774,
"gene_symbol": "NFAT5",
"hgvs_c": "c.4189C>T",
"hgvs_p": "p.Leu1397Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566514.1",
"strand": true,
"transcript": "ENST00000896455.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1525,
"aa_ref": "L",
"aa_start": 1392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4650,
"cdna_start": 4182,
"cds_end": null,
"cds_length": 4578,
"cds_start": 4174,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000957741.1",
"gene_hgnc_id": 7774,
"gene_symbol": "NFAT5",
"hgvs_c": "c.4174C>T",
"hgvs_p": "p.Leu1392Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627800.1",
"strand": true,
"transcript": "ENST00000957741.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1455,
"aa_ref": "L",
"aa_start": 1322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13351,
"cdna_start": 4644,
"cds_end": null,
"cds_length": 4368,
"cds_start": 3964,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_138714.4",
"gene_hgnc_id": 7774,
"gene_symbol": "NFAT5",
"hgvs_c": "c.3964C>T",
"hgvs_p": "p.Leu1322Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_619728.2",
"strand": true,
"transcript": "NM_138714.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1455,
"aa_ref": "L",
"aa_start": 1322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13297,
"cdna_start": 4590,
"cds_end": null,
"cds_length": 4368,
"cds_start": 3964,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_173214.3",
"gene_hgnc_id": 7774,
"gene_symbol": "NFAT5",
"hgvs_c": "c.3964C>T",
"hgvs_p": "p.Leu1322Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_775321.1",
"strand": true,
"transcript": "NM_173214.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1455,
"aa_ref": "L",
"aa_start": 1322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5326,
"cdna_start": 4590,
"cds_end": null,
"cds_length": 4368,
"cds_start": 3964,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_173215.3",
"gene_hgnc_id": 7774,
"gene_symbol": "NFAT5",
"hgvs_c": "c.3964C>T",
"hgvs_p": "p.Leu1322Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_775322.1",
"strand": true,
"transcript": "NM_173215.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1324,
"aa_ref": "L",
"aa_start": 1191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12813,
"cdna_start": 4106,
"cds_end": null,
"cds_length": 3975,
"cds_start": 3571,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001367709.1",
"gene_hgnc_id": 7774,
"gene_symbol": "NFAT5",
"hgvs_c": "c.3571C>T",
"hgvs_p": "p.Leu1191Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354638.1",
"strand": true,
"transcript": "NM_001367709.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1051,
"aa_ref": "L",
"aa_start": 918,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4600,
"cdna_start": 3077,
"cds_end": null,
"cds_length": 3156,
"cds_start": 2752,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000896456.1",
"gene_hgnc_id": 7774,
"gene_symbol": "NFAT5",
"hgvs_c": "c.2752C>T",
"hgvs_p": "p.Leu918Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566515.1",
"strand": true,
"transcript": "ENST00000896456.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1530,
"aa_ref": "L",
"aa_start": 1397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13232,
"cdna_start": 4525,
"cds_end": null,
"cds_length": 4593,
"cds_start": 4189,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_011522817.4",
"gene_hgnc_id": 7774,
"gene_symbol": "NFAT5",
"hgvs_c": "c.4189C>T",
"hgvs_p": "p.Leu1397Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011521119.1",
"strand": true,
"transcript": "XM_011522817.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1487,
"aa_ref": "L",
"aa_start": 1354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26396,
"cdna_start": 17689,
"cds_end": null,
"cds_length": 4464,
"cds_start": 4060,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047433510.1",
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