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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: 19-4311985-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=4311985&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FSD1",
"hgnc_id": 13745,
"hgvs_c": "c.634C>A",
"hgvs_p": "p.Arg212Ser",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_024333.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.8647,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.22,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6146997809410095,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 496,
"aa_ref": "R",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1833,
"cdna_start": 783,
"cds_end": null,
"cds_length": 1491,
"cds_start": 634,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_024333.3",
"gene_hgnc_id": 13745,
"gene_symbol": "FSD1",
"hgvs_c": "c.634C>A",
"hgvs_p": "p.Arg212Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000221856.11",
"protein_coding": true,
"protein_id": "NP_077309.1",
"strand": true,
"transcript": "NM_024333.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 496,
"aa_ref": "R",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1833,
"cdna_start": 783,
"cds_end": null,
"cds_length": 1491,
"cds_start": 634,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000221856.11",
"gene_hgnc_id": 13745,
"gene_symbol": "FSD1",
"hgvs_c": "c.634C>A",
"hgvs_p": "p.Arg212Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024333.3",
"protein_coding": true,
"protein_id": "ENSP00000221856.5",
"strand": true,
"transcript": "ENST00000221856.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1570,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000598179.1",
"gene_hgnc_id": 13745,
"gene_symbol": "FSD1",
"hgvs_c": "n.513C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000598179.1",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 516,
"aa_ref": "R",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1860,
"cdna_start": 743,
"cds_end": null,
"cds_length": 1551,
"cds_start": 634,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000911582.1",
"gene_hgnc_id": 13745,
"gene_symbol": "FSD1",
"hgvs_c": "c.634C>A",
"hgvs_p": "p.Arg212Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581641.1",
"strand": true,
"transcript": "ENST00000911582.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 495,
"aa_ref": "R",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1772,
"cdna_start": 722,
"cds_end": null,
"cds_length": 1488,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000911584.1",
"gene_hgnc_id": 13745,
"gene_symbol": "FSD1",
"hgvs_c": "c.631C>A",
"hgvs_p": "p.Arg211Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581643.1",
"strand": true,
"transcript": "ENST00000911584.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 481,
"aa_ref": "R",
"aa_start": 197,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1710,
"cdna_start": 660,
"cds_end": null,
"cds_length": 1446,
"cds_start": 589,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000911586.1",
"gene_hgnc_id": 13745,
"gene_symbol": "FSD1",
"hgvs_c": "c.589C>A",
"hgvs_p": "p.Arg197Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581645.1",
"strand": true,
"transcript": "ENST00000911586.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 476,
"aa_ref": "R",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1655,
"cdna_start": 605,
"cds_end": null,
"cds_length": 1431,
"cds_start": 574,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000911587.1",
"gene_hgnc_id": 13745,
"gene_symbol": "FSD1",
"hgvs_c": "c.574C>A",
"hgvs_p": "p.Arg192Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581646.1",
"strand": true,
"transcript": "ENST00000911587.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 470,
"aa_ref": "R",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1762,
"cdna_start": 705,
"cds_end": null,
"cds_length": 1413,
"cds_start": 556,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000965757.1",
"gene_hgnc_id": 13745,
"gene_symbol": "FSD1",
"hgvs_c": "c.556C>A",
"hgvs_p": "p.Arg186Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635816.1",
"strand": true,
"transcript": "ENST00000965757.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 463,
"aa_ref": "R",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1660,
"cdna_start": 702,
"cds_end": null,
"cds_length": 1392,
"cds_start": 634,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000911585.1",
"gene_hgnc_id": 13745,
"gene_symbol": "FSD1",
"hgvs_c": "c.634C>A",
"hgvs_p": "p.Arg212Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581644.1",
"strand": true,
"transcript": "ENST00000911585.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 462,
"aa_ref": "R",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1707,
"cdna_start": 652,
"cds_end": null,
"cds_length": 1389,
"cds_start": 532,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000911581.1",
"gene_hgnc_id": 13745,
"gene_symbol": "FSD1",
"hgvs_c": "c.532C>A",
"hgvs_p": "p.Arg178Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581640.1",
"strand": true,
"transcript": "ENST00000911581.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 439,
"aa_ref": "R",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1665,
"cdna_start": 786,
"cds_end": null,
"cds_length": 1320,
"cds_start": 634,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000859934.1",
"gene_hgnc_id": 13745,
"gene_symbol": "FSD1",
"hgvs_c": "c.634C>A",
"hgvs_p": "p.Arg212Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529993.1",
"strand": true,
"transcript": "ENST00000859934.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 437,
"aa_ref": "R",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1742,
"cdna_start": 783,
"cds_end": null,
"cds_length": 1314,
"cds_start": 634,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001330429.2",
"gene_hgnc_id": 13745,
"gene_symbol": "FSD1",
"hgvs_c": "c.634C>A",
"hgvs_p": "p.Arg212Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317358.1",
"strand": true,
"transcript": "NM_001330429.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 437,
"aa_ref": "R",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1634,
"cdna_start": 705,
"cds_end": null,
"cds_length": 1314,
"cds_start": 634,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000597590.5",
"gene_hgnc_id": 13745,
"gene_symbol": "FSD1",
"hgvs_c": "c.634C>A",
"hgvs_p": "p.Arg212Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000473022.1",
"strand": true,
"transcript": "ENST00000597590.5",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 416,
"aa_ref": "R",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1540,
"cdna_start": 724,
"cds_end": null,
"cds_length": 1251,
"cds_start": 634,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000965758.1",
"gene_hgnc_id": 13745,
"gene_symbol": "FSD1",
"hgvs_c": "c.634C>A",
"hgvs_p": "p.Arg212Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635817.1",
"strand": true,
"transcript": "ENST00000965758.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 412,
"aa_ref": "R",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1537,
"cdna_start": 735,
"cds_end": null,
"cds_length": 1239,
"cds_start": 634,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000911583.1",
"gene_hgnc_id": 13745,
"gene_symbol": "FSD1",
"hgvs_c": "c.634C>A",
"hgvs_p": "p.Arg212Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581642.1",
"strand": true,
"transcript": "ENST00000911583.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 175,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 653,
"cdna_start": null,
"cds_end": null,
"cds_length": 528,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000597480.1",
"gene_hgnc_id": 13745,
"gene_symbol": "FSD1",
"hgvs_c": "c.456+106C>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000472521.1",
"strand": true,
"transcript": "ENST00000597480.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 64,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 254,
"cdna_start": null,
"cds_end": null,
"cds_length": 196,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000601006.1",
"gene_hgnc_id": 13745,
"gene_symbol": "FSD1",
"hgvs_c": "c.126+5773C>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000472060.1",
"strand": true,
"transcript": "ENST00000601006.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 700,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000598010.5",
"gene_hgnc_id": 13745,
"gene_symbol": "FSD1",
"hgvs_c": "n.334C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000598010.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs376221601",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 13745,
"gene_symbol": "FSD1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"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": 3.621,
"pos": 4311985,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.36,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_024333.3"
}
]
}