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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: 20-63488370-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=63488370&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM1",
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "EEF1A2",
"hgnc_id": 3192,
"hgvs_c": "c.1320C>G",
"hgvs_p": "p.Asn440Lys",
"inheritance_mode": "AD",
"pathogenic_score": 4,
"score": 2,
"transcript": "NM_001958.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,BP4_Moderate",
"acmg_score": 2,
"allele_count_reference_population": 2,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.3103,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.61,
"chr": "20",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.10135099291801453,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 463,
"aa_ref": "N",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1773,
"cdna_start": 1417,
"cds_end": null,
"cds_length": 1392,
"cds_start": 1320,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001958.5",
"gene_hgnc_id": 3192,
"gene_symbol": "EEF1A2",
"hgvs_c": "c.1320C>G",
"hgvs_p": "p.Asn440Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000217182.6",
"protein_coding": true,
"protein_id": "NP_001949.1",
"strand": false,
"transcript": "NM_001958.5",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 463,
"aa_ref": "N",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1773,
"cdna_start": 1417,
"cds_end": null,
"cds_length": 1392,
"cds_start": 1320,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000217182.6",
"gene_hgnc_id": 3192,
"gene_symbol": "EEF1A2",
"hgvs_c": "c.1320C>G",
"hgvs_p": "p.Asn440Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001958.5",
"protein_coding": true,
"protein_id": "ENSP00000217182.3",
"strand": false,
"transcript": "ENST00000217182.6",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 549,
"aa_ref": "N",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12112,
"cdna_start": 1417,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1320,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000298049.13",
"gene_hgnc_id": 3192,
"gene_symbol": "EEF1A2",
"hgvs_c": "c.1320C>G",
"hgvs_p": "p.Asn440Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000298049.9",
"strand": false,
"transcript": "ENST00000298049.13",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 512,
"aa_ref": "N",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1644,
"cdna_start": 1417,
"cds_end": null,
"cds_length": 1539,
"cds_start": 1320,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000706949.1",
"gene_hgnc_id": 3192,
"gene_symbol": "EEF1A2",
"hgvs_c": "c.1320C>G",
"hgvs_p": "p.Asn440Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516669.1",
"strand": false,
"transcript": "ENST00000706949.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 486,
"aa_ref": "N",
"aa_start": 463,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1841,
"cdna_start": 1485,
"cds_end": null,
"cds_length": 1461,
"cds_start": 1389,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000961009.1",
"gene_hgnc_id": 3192,
"gene_symbol": "EEF1A2",
"hgvs_c": "c.1389C>G",
"hgvs_p": "p.Asn463Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631068.1",
"strand": false,
"transcript": "ENST00000961009.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 463,
"aa_ref": "N",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3028,
"cdna_start": 2672,
"cds_end": null,
"cds_length": 1392,
"cds_start": 1320,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000913939.1",
"gene_hgnc_id": 3192,
"gene_symbol": "EEF1A2",
"hgvs_c": "c.1320C>G",
"hgvs_p": "p.Asn440Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583998.1",
"strand": false,
"transcript": "ENST00000913939.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 463,
"aa_ref": "N",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1926,
"cdna_start": 1568,
"cds_end": null,
"cds_length": 1392,
"cds_start": 1320,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000961003.1",
"gene_hgnc_id": 3192,
"gene_symbol": "EEF1A2",
"hgvs_c": "c.1320C>G",
"hgvs_p": "p.Asn440Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631062.1",
"strand": false,
"transcript": "ENST00000961003.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 463,
"aa_ref": "N",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1971,
"cdna_start": 1616,
"cds_end": null,
"cds_length": 1392,
"cds_start": 1320,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000961004.1",
"gene_hgnc_id": 3192,
"gene_symbol": "EEF1A2",
"hgvs_c": "c.1320C>G",
"hgvs_p": "p.Asn440Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631063.1",
"strand": false,
"transcript": "ENST00000961004.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 463,
"aa_ref": "N",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1935,
"cdna_start": 1579,
"cds_end": null,
"cds_length": 1392,
"cds_start": 1320,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000961005.1",
"gene_hgnc_id": 3192,
"gene_symbol": "EEF1A2",
"hgvs_c": "c.1320C>G",
"hgvs_p": "p.Asn440Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631064.1",
"strand": false,
"transcript": "ENST00000961005.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 463,
"aa_ref": "N",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1871,
"cdna_start": 1515,
"cds_end": null,
"cds_length": 1392,
"cds_start": 1320,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000961007.1",
"gene_hgnc_id": 3192,
"gene_symbol": "EEF1A2",
"hgvs_c": "c.1320C>G",
"hgvs_p": "p.Asn440Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631066.1",
"strand": false,
"transcript": "ENST00000961007.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 463,
"aa_ref": "N",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1998,
"cdna_start": 1643,
"cds_end": null,
"cds_length": 1392,
"cds_start": 1320,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000961010.1",
"gene_hgnc_id": 3192,
"gene_symbol": "EEF1A2",
"hgvs_c": "c.1320C>G",
"hgvs_p": "p.Asn440Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631069.1",
"strand": false,
"transcript": "ENST00000961010.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 463,
"aa_ref": "N",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2600,
"cdna_start": 2245,
"cds_end": null,
"cds_length": 1392,
"cds_start": 1320,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000961011.1",
"gene_hgnc_id": 3192,
"gene_symbol": "EEF1A2",
"hgvs_c": "c.1320C>G",
"hgvs_p": "p.Asn440Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631070.1",
"strand": false,
"transcript": "ENST00000961011.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 463,
"aa_ref": "N",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1744,
"cdna_start": 1389,
"cds_end": null,
"cds_length": 1392,
"cds_start": 1320,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000961012.1",
"gene_hgnc_id": 3192,
"gene_symbol": "EEF1A2",
"hgvs_c": "c.1320C>G",
"hgvs_p": "p.Asn440Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631071.1",
"strand": false,
"transcript": "ENST00000961012.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 460,
"aa_ref": "N",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1764,
"cdna_start": 1408,
"cds_end": null,
"cds_length": 1383,
"cds_start": 1311,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000961008.1",
"gene_hgnc_id": 3192,
"gene_symbol": "EEF1A2",
"hgvs_c": "c.1311C>G",
"hgvs_p": "p.Asn437Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631067.1",
"strand": false,
"transcript": "ENST00000961008.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 449,
"aa_ref": "N",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1731,
"cdna_start": 1375,
"cds_end": null,
"cds_length": 1350,
"cds_start": 1278,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000706948.1",
"gene_hgnc_id": 3192,
"gene_symbol": "EEF1A2",
"hgvs_c": "c.1278C>G",
"hgvs_p": "p.Asn426Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516668.1",
"strand": false,
"transcript": "ENST00000706948.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 408,
"aa_ref": "N",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1758,
"cdna_start": 1401,
"cds_end": null,
"cds_length": 1227,
"cds_start": 1155,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000961006.1",
"gene_hgnc_id": 3192,
"gene_symbol": "EEF1A2",
"hgvs_c": "c.1155C>G",
"hgvs_p": "p.Asn385Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631065.1",
"strand": false,
"transcript": "ENST00000961006.1",
"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": 1982,
"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": "ENST00000675519.1",
"gene_hgnc_id": 3192,
"gene_symbol": "EEF1A2",
"hgvs_c": "n.*1192C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501859.1",
"strand": false,
"transcript": "ENST00000675519.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "non_stop_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1736,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000850883.1",
"gene_hgnc_id": 3192,
"gene_symbol": "EEF1A2",
"hgvs_c": "n.1285C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000520961.1",
"strand": false,
"transcript": "ENST00000850883.1",
"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": 1982,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000675519.1",
"gene_hgnc_id": 3192,
"gene_symbol": "EEF1A2",
"hgvs_c": "n.*1192C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501859.1",
"strand": false,
"transcript": "ENST00000675519.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs367803280",
"effect": "missense_variant",
"frequency_reference_population": 0.0000015103595,
"gene_hgnc_id": 3192,
"gene_symbol": "EEF1A2",
"gnomad_exomes_ac": 2,
"gnomad_exomes_af": 0.00000151036,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.004,
"pos": 63488370,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.046,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_001958.5"
}
]
}