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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: 12-64716802-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=64716802&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GNS",
"hgnc_id": 4422,
"hgvs_c": "c.1598G>A",
"hgvs_p": "p.Arg533His",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_002076.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_score": -20,
"allele_count_reference_population": 2635,
"alphamissense_prediction": null,
"alphamissense_score": 0.0939,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.37,
"chr": "12",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": " MPS-III-D,Mucopolysaccharidosis,Sanfilippo syndrome,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.006198585033416748,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 552,
"aa_ref": "R",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5081,
"cdna_start": 1728,
"cds_end": null,
"cds_length": 1659,
"cds_start": 1598,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_002076.4",
"gene_hgnc_id": 4422,
"gene_symbol": "GNS",
"hgvs_c": "c.1598G>A",
"hgvs_p": "p.Arg533His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000258145.8",
"protein_coding": true,
"protein_id": "NP_002067.1",
"strand": false,
"transcript": "NM_002076.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 552,
"aa_ref": "R",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5081,
"cdna_start": 1728,
"cds_end": null,
"cds_length": 1659,
"cds_start": 1598,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000258145.8",
"gene_hgnc_id": 4422,
"gene_symbol": "GNS",
"hgvs_c": "c.1598G>A",
"hgvs_p": "p.Arg533His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002076.4",
"protein_coding": true,
"protein_id": "ENSP00000258145.3",
"strand": false,
"transcript": "ENST00000258145.8",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 496,
"aa_ref": "R",
"aa_start": 477,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4877,
"cdna_start": 1520,
"cds_end": null,
"cds_length": 1491,
"cds_start": 1430,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000418919.6",
"gene_hgnc_id": 4422,
"gene_symbol": "GNS",
"hgvs_c": "c.1430G>A",
"hgvs_p": "p.Arg477His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000413130.2",
"strand": false,
"transcript": "ENST00000418919.6",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 590,
"aa_ref": "R",
"aa_start": 571,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5229,
"cdna_start": 1878,
"cds_end": null,
"cds_length": 1773,
"cds_start": 1712,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000967913.1",
"gene_hgnc_id": 4422,
"gene_symbol": "GNS",
"hgvs_c": "c.1712G>A",
"hgvs_p": "p.Arg571His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637972.1",
"strand": false,
"transcript": "ENST00000967913.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 589,
"aa_ref": "R",
"aa_start": 570,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5219,
"cdna_start": 1868,
"cds_end": null,
"cds_length": 1770,
"cds_start": 1709,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000967915.1",
"gene_hgnc_id": 4422,
"gene_symbol": "GNS",
"hgvs_c": "c.1709G>A",
"hgvs_p": "p.Arg570His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637974.1",
"strand": false,
"transcript": "ENST00000967915.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 584,
"aa_ref": "R",
"aa_start": 565,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2164,
"cdna_start": 1824,
"cds_end": null,
"cds_length": 1755,
"cds_start": 1694,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000543646.5",
"gene_hgnc_id": 4422,
"gene_symbol": "GNS",
"hgvs_c": "c.1694G>A",
"hgvs_p": "p.Arg565His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000438497.1",
"strand": false,
"transcript": "ENST00000543646.5",
"transcript_support_level": 2
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 550,
"aa_ref": "R",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5103,
"cdna_start": 1743,
"cds_end": null,
"cds_length": 1653,
"cds_start": 1592,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000905555.1",
"gene_hgnc_id": 4422,
"gene_symbol": "GNS",
"hgvs_c": "c.1592G>A",
"hgvs_p": "p.Arg531His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575614.1",
"strand": false,
"transcript": "ENST00000905555.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 550,
"aa_ref": "R",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5105,
"cdna_start": 1751,
"cds_end": null,
"cds_length": 1653,
"cds_start": 1592,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000967914.1",
"gene_hgnc_id": 4422,
"gene_symbol": "GNS",
"hgvs_c": "c.1592G>A",
"hgvs_p": "p.Arg531His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637973.1",
"strand": false,
"transcript": "ENST00000967914.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 533,
"aa_ref": "R",
"aa_start": 514,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5052,
"cdna_start": 1692,
"cds_end": null,
"cds_length": 1602,
"cds_start": 1541,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000905554.1",
"gene_hgnc_id": 4422,
"gene_symbol": "GNS",
"hgvs_c": "c.1541G>A",
"hgvs_p": "p.Arg514His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575613.1",
"strand": false,
"transcript": "ENST00000905554.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 532,
"aa_ref": "R",
"aa_start": 513,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2020,
"cdna_start": 1693,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1538,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000542058.5",
"gene_hgnc_id": 4422,
"gene_symbol": "GNS",
"hgvs_c": "c.1538G>A",
"hgvs_p": "p.Arg513His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000444819.1",
"strand": false,
"transcript": "ENST00000542058.5",
"transcript_support_level": 2
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 516,
"aa_ref": "R",
"aa_start": 497,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5014,
"cdna_start": 1656,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1490,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000905553.1",
"gene_hgnc_id": 4422,
"gene_symbol": "GNS",
"hgvs_c": "c.1490G>A",
"hgvs_p": "p.Arg497His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575612.1",
"strand": false,
"transcript": "ENST00000905553.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 514,
"aa_ref": "R",
"aa_start": 495,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4994,
"cdna_start": 1644,
"cds_end": null,
"cds_length": 1545,
"cds_start": 1484,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000967916.1",
"gene_hgnc_id": 4422,
"gene_symbol": "GNS",
"hgvs_c": "c.1484G>A",
"hgvs_p": "p.Arg495His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637975.1",
"strand": false,
"transcript": "ENST00000967916.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 482,
"aa_ref": "R",
"aa_start": 463,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3617,
"cdna_start": 1548,
"cds_end": null,
"cds_length": 1449,
"cds_start": 1388,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000967918.1",
"gene_hgnc_id": 4422,
"gene_symbol": "GNS",
"hgvs_c": "c.1388G>A",
"hgvs_p": "p.Arg463His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637977.1",
"strand": false,
"transcript": "ENST00000967918.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 450,
"aa_ref": "R",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3511,
"cdna_start": 1436,
"cds_end": null,
"cds_length": 1353,
"cds_start": 1292,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000905556.1",
"gene_hgnc_id": 4422,
"gene_symbol": "GNS",
"hgvs_c": "c.1292G>A",
"hgvs_p": "p.Arg431His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575615.1",
"strand": false,
"transcript": "ENST00000905556.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 416,
"aa_ref": "R",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4669,
"cdna_start": 1320,
"cds_end": null,
"cds_length": 1251,
"cds_start": 1190,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000967917.1",
"gene_hgnc_id": 4422,
"gene_symbol": "GNS",
"hgvs_c": "c.1190G>A",
"hgvs_p": "p.Arg397His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637976.1",
"strand": false,
"transcript": "ENST00000967917.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4273,
"cdna_start": 922,
"cds_end": null,
"cds_length": 813,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000967912.1",
"gene_hgnc_id": 4422,
"gene_symbol": "GNS",
"hgvs_c": "c.752G>A",
"hgvs_p": "p.Arg251His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637971.1",
"strand": false,
"transcript": "ENST00000967912.1",
"transcript_support_level": null
},
{
"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": 1846,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000541781.5",
"gene_hgnc_id": 4422,
"gene_symbol": "GNS",
"hgvs_c": "n.1653G>A",
"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": "ENST00000541781.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs61743822",
"effect": "missense_variant",
"frequency_reference_population": 0.0016343639,
"gene_hgnc_id": 4422,
"gene_symbol": "GNS",
"gnomad_exomes_ac": 1311,
"gnomad_exomes_af": 0.000897928,
"gnomad_exomes_homalt": 17,
"gnomad_genomes_ac": 1324,
"gnomad_genomes_af": 0.00869794,
"gnomad_genomes_homalt": 18,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 35,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign/Likely benign",
"phenotype_combined": "not specified|Mucopolysaccharidosis, MPS-III-D|Sanfilippo syndrome|not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.493,
"pos": 64716802,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.066,
"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_002076.4"
}
]
}