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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: 5-73063852-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=73063852&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 73063852,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_138782.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO2",
"gene_hgnc_id": 25180,
"hgvs_c": "c.1357A>C",
"hgvs_p": "p.Thr453Pro",
"transcript": "NM_138782.3",
"protein_id": "NP_620137.2",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 810,
"cds_start": 1357,
"cds_end": null,
"cds_length": 2433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000430046.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138782.3"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO2",
"gene_hgnc_id": 25180,
"hgvs_c": "c.1357A>C",
"hgvs_p": "p.Thr453Pro",
"transcript": "ENST00000430046.7",
"protein_id": "ENSP00000393776.2",
"transcript_support_level": 1,
"aa_start": 453,
"aa_end": null,
"aa_length": 810,
"cds_start": 1357,
"cds_end": null,
"cds_length": 2433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_138782.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430046.7"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO2",
"gene_hgnc_id": 25180,
"hgvs_c": "c.1357A>C",
"hgvs_p": "p.Thr453Pro",
"transcript": "ENST00000956652.1",
"protein_id": "ENSP00000626711.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 830,
"cds_start": 1357,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956652.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO2",
"gene_hgnc_id": 25180,
"hgvs_c": "c.1387A>C",
"hgvs_p": "p.Thr463Pro",
"transcript": "ENST00000956650.1",
"protein_id": "ENSP00000626709.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 820,
"cds_start": 1387,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956650.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO2",
"gene_hgnc_id": 25180,
"hgvs_c": "c.1315A>C",
"hgvs_p": "p.Thr439Pro",
"transcript": "ENST00000956651.1",
"protein_id": "ENSP00000626710.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 796,
"cds_start": 1315,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956651.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO2",
"gene_hgnc_id": 25180,
"hgvs_c": "c.1258A>C",
"hgvs_p": "p.Thr420Pro",
"transcript": "NM_001146032.2",
"protein_id": "NP_001139504.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 777,
"cds_start": 1258,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146032.2"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO2",
"gene_hgnc_id": 25180,
"hgvs_c": "c.1258A>C",
"hgvs_p": "p.Thr420Pro",
"transcript": "ENST00000512348.5",
"protein_id": "ENSP00000427296.1",
"transcript_support_level": 2,
"aa_start": 420,
"aa_end": null,
"aa_length": 777,
"cds_start": 1258,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512348.5"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO2",
"gene_hgnc_id": 25180,
"hgvs_c": "c.1252A>C",
"hgvs_p": "p.Thr418Pro",
"transcript": "ENST00000956649.1",
"protein_id": "ENSP00000626708.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 775,
"cds_start": 1252,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956649.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO2",
"gene_hgnc_id": 25180,
"hgvs_c": "c.1153A>C",
"hgvs_p": "p.Thr385Pro",
"transcript": "ENST00000956654.1",
"protein_id": "ENSP00000626713.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 742,
"cds_start": 1153,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956654.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO2",
"gene_hgnc_id": 25180,
"hgvs_c": "c.1018A>C",
"hgvs_p": "p.Thr340Pro",
"transcript": "ENST00000956653.1",
"protein_id": "ENSP00000626712.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 697,
"cds_start": 1018,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956653.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO2",
"gene_hgnc_id": 25180,
"hgvs_c": "c.1252A>C",
"hgvs_p": "p.Thr418Pro",
"transcript": "XM_017009016.3",
"protein_id": "XP_016864505.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 775,
"cds_start": 1252,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009016.3"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO2",
"gene_hgnc_id": 25180,
"hgvs_c": "c.1357A>C",
"hgvs_p": "p.Thr453Pro",
"transcript": "XM_017009017.3",
"protein_id": "XP_016864506.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 568,
"cds_start": 1357,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009017.3"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO2",
"gene_hgnc_id": 25180,
"hgvs_c": "c.1357A>C",
"hgvs_p": "p.Thr453Pro",
"transcript": "XM_017009018.3",
"protein_id": "XP_016864507.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 564,
"cds_start": 1357,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009018.3"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO2",
"gene_hgnc_id": 25180,
"hgvs_c": "c.1357A>C",
"hgvs_p": "p.Thr453Pro",
"transcript": "XM_017009019.3",
"protein_id": "XP_016864508.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 557,
"cds_start": 1357,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009019.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "FCHO2",
"gene_hgnc_id": 25180,
"hgvs_c": "c.1346-4798A>C",
"hgvs_p": null,
"transcript": "XM_017009020.3",
"protein_id": "XP_016864509.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 518,
"cds_start": null,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009020.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "FCHO2",
"gene_hgnc_id": 25180,
"hgvs_c": "c.1346-4798A>C",
"hgvs_p": null,
"transcript": "XM_017009021.3",
"protein_id": "XP_016864510.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 518,
"cds_start": null,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009021.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "FCHO2",
"gene_hgnc_id": 25180,
"hgvs_c": "c.1346-4798A>C",
"hgvs_p": null,
"transcript": "XM_017009022.3",
"protein_id": "XP_016864511.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 493,
"cds_start": null,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009022.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO2",
"gene_hgnc_id": 25180,
"hgvs_c": "n.116A>C",
"hgvs_p": null,
"transcript": "ENST00000508431.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000508431.1"
}
],
"gene_symbol": "FCHO2",
"gene_hgnc_id": 25180,
"dbsnp": "rs375969109",
"frequency_reference_population": 0.0000065894383,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000658944,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2983292043209076,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.207,
"revel_prediction": "Benign",
"alphamissense_score": 0.1405,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.102,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_138782.3",
"gene_symbol": "FCHO2",
"hgnc_id": 25180,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1357A>C",
"hgvs_p": "p.Thr453Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}