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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: 7-76390340-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=76390340&ref=C&alt=G&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": "SSC4D",
"hgnc_id": 14461,
"hgvs_c": "c.1447G>C",
"hgvs_p": "p.Glu483Gln",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_080744.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 2,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1353,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.36,
"chr": "7",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.24241986870765686,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 575,
"aa_ref": "E",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2800,
"cdna_start": 1797,
"cds_end": null,
"cds_length": 1728,
"cds_start": 1447,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_080744.2",
"gene_hgnc_id": 14461,
"gene_symbol": "SSC4D",
"hgvs_c": "c.1447G>C",
"hgvs_p": "p.Glu483Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000275560.4",
"protein_coding": true,
"protein_id": "NP_542782.1",
"strand": false,
"transcript": "NM_080744.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 575,
"aa_ref": "E",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2800,
"cdna_start": 1797,
"cds_end": null,
"cds_length": 1728,
"cds_start": 1447,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000275560.4",
"gene_hgnc_id": 14461,
"gene_symbol": "SSC4D",
"hgvs_c": "c.1447G>C",
"hgvs_p": "p.Glu483Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_080744.2",
"protein_coding": true,
"protein_id": "ENSP00000275560.3",
"strand": false,
"transcript": "ENST00000275560.4",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 563,
"aa_ref": "E",
"aa_start": 471,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2785,
"cdna_start": 1782,
"cds_end": null,
"cds_length": 1692,
"cds_start": 1411,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000938541.1",
"gene_hgnc_id": 14461,
"gene_symbol": "SSC4D",
"hgvs_c": "c.1411G>C",
"hgvs_p": "p.Glu471Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608600.1",
"strand": false,
"transcript": "ENST00000938541.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 502,
"aa_ref": "E",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2537,
"cdna_start": 1535,
"cds_end": null,
"cds_length": 1509,
"cds_start": 1228,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000938545.1",
"gene_hgnc_id": 14461,
"gene_symbol": "SSC4D",
"hgvs_c": "c.1228G>C",
"hgvs_p": "p.Glu410Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608604.1",
"strand": false,
"transcript": "ENST00000938545.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 490,
"aa_ref": "E",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2545,
"cdna_start": 1542,
"cds_end": null,
"cds_length": 1473,
"cds_start": 1192,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000938543.1",
"gene_hgnc_id": 14461,
"gene_symbol": "SSC4D",
"hgvs_c": "c.1192G>C",
"hgvs_p": "p.Glu398Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608602.1",
"strand": false,
"transcript": "ENST00000938543.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 473,
"aa_ref": "E",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2821,
"cdna_start": 1499,
"cds_end": null,
"cds_length": 1422,
"cds_start": 1141,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000938540.1",
"gene_hgnc_id": 14461,
"gene_symbol": "SSC4D",
"hgvs_c": "c.1141G>C",
"hgvs_p": "p.Glu381Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608599.1",
"strand": false,
"transcript": "ENST00000938540.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 471,
"aa_ref": "E",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2497,
"cdna_start": 1486,
"cds_end": null,
"cds_length": 1416,
"cds_start": 1135,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000938542.1",
"gene_hgnc_id": 14461,
"gene_symbol": "SSC4D",
"hgvs_c": "c.1135G>C",
"hgvs_p": "p.Glu379Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608601.1",
"strand": false,
"transcript": "ENST00000938542.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "E",
"aa_start": 369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2825,
"cdna_start": 1502,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1105,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000938539.1",
"gene_hgnc_id": 14461,
"gene_symbol": "SSC4D",
"hgvs_c": "c.1105G>C",
"hgvs_p": "p.Glu369Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608598.1",
"strand": false,
"transcript": "ENST00000938539.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 306,
"aa_ref": "E",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1978,
"cdna_start": 975,
"cds_end": null,
"cds_length": 921,
"cds_start": 640,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000938544.1",
"gene_hgnc_id": 14461,
"gene_symbol": "SSC4D",
"hgvs_c": "c.640G>C",
"hgvs_p": "p.Glu214Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608603.1",
"strand": false,
"transcript": "ENST00000938544.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 604,
"aa_ref": "E",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2887,
"cdna_start": 1884,
"cds_end": null,
"cds_length": 1815,
"cds_start": 1534,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_024446664.2",
"gene_hgnc_id": 14461,
"gene_symbol": "SSC4D",
"hgvs_c": "c.1534G>C",
"hgvs_p": "p.Glu512Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024302432.1",
"strand": false,
"transcript": "XM_024446664.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 406,
"aa_ref": "E",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2259,
"cdna_start": 1256,
"cds_end": null,
"cds_length": 1221,
"cds_start": 940,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_017011750.2",
"gene_hgnc_id": 14461,
"gene_symbol": "SSC4D",
"hgvs_c": "c.940G>C",
"hgvs_p": "p.Glu314Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016867239.1",
"strand": false,
"transcript": "XM_017011750.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1224,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000492979.2",
"gene_hgnc_id": 14461,
"gene_symbol": "SSC4D",
"hgvs_c": "n.218G>C",
"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": "ENST00000492979.2",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs749525908",
"effect": "missense_variant",
"frequency_reference_population": 0.0000013761897,
"gene_hgnc_id": 14461,
"gene_symbol": "SSC4D",
"gnomad_exomes_ac": 2,
"gnomad_exomes_af": 0.00000137619,
"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": 2.62,
"pos": 76390340,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.165,
"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_080744.2"
}
]
}