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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: 5-73909892-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=73909892&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",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ARHGEF28",
"hgnc_id": 30322,
"hgvs_c": "c.4642C>T",
"hgvs_p": "p.Pro1548Ser",
"inheritance_mode": "AD,AR,SD",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_001080479.3",
"verdict": "Benign"
},
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000304540",
"hgnc_id": 59068,
"hgvs_c": "n.78+3272G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -20,
"transcript": "ENST00000804413.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 56259,
"alphamissense_prediction": null,
"alphamissense_score": 0.0766,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.72,
"chr": "5",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.002343475818634033,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1705,
"aa_ref": "P",
"aa_start": 1548,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6233,
"cdna_start": 4780,
"cds_end": null,
"cds_length": 5118,
"cds_start": 4642,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "NM_001177693.2",
"gene_hgnc_id": 30322,
"gene_symbol": "ARHGEF28",
"hgvs_c": "c.4642C>T",
"hgvs_p": "p.Pro1548Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000513042.7",
"protein_coding": true,
"protein_id": "NP_001171164.1",
"strand": true,
"transcript": "NM_001177693.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1705,
"aa_ref": "P",
"aa_start": 1548,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6233,
"cdna_start": 4780,
"cds_end": null,
"cds_length": 5118,
"cds_start": 4642,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000513042.7",
"gene_hgnc_id": 30322,
"gene_symbol": "ARHGEF28",
"hgvs_c": "c.4642C>T",
"hgvs_p": "p.Pro1548Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001177693.2",
"protein_coding": true,
"protein_id": "ENSP00000441436.1",
"strand": true,
"transcript": "ENST00000513042.7",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1731,
"aa_ref": "P",
"aa_start": 1548,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5792,
"cdna_start": 4662,
"cds_end": null,
"cds_length": 5196,
"cds_start": 4642,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000437974.5",
"gene_hgnc_id": 30322,
"gene_symbol": "ARHGEF28",
"hgvs_c": "c.4642C>T",
"hgvs_p": "p.Pro1548Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411459.1",
"strand": true,
"transcript": "ENST00000437974.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1705,
"aa_ref": "P",
"aa_start": 1548,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6118,
"cdna_start": 4662,
"cds_end": null,
"cds_length": 5118,
"cds_start": 4642,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000426542.6",
"gene_hgnc_id": 30322,
"gene_symbol": "ARHGEF28",
"hgvs_c": "c.4642C>T",
"hgvs_p": "p.Pro1548Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000412175.2",
"strand": true,
"transcript": "ENST00000426542.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1731,
"aa_ref": "P",
"aa_start": 1548,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6311,
"cdna_start": 4780,
"cds_end": null,
"cds_length": 5196,
"cds_start": 4642,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "NM_001080479.3",
"gene_hgnc_id": 30322,
"gene_symbol": "ARHGEF28",
"hgvs_c": "c.4642C>T",
"hgvs_p": "p.Pro1548Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001073948.2",
"strand": true,
"transcript": "NM_001080479.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1731,
"aa_ref": "P",
"aa_start": 1548,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6351,
"cdna_start": 4818,
"cds_end": null,
"cds_length": 5196,
"cds_start": 4642,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000545377.5",
"gene_hgnc_id": 30322,
"gene_symbol": "ARHGEF28",
"hgvs_c": "c.4642C>T",
"hgvs_p": "p.Pro1548Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000441913.1",
"strand": true,
"transcript": "ENST00000545377.5",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1731,
"aa_ref": "P",
"aa_start": 1548,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6654,
"cdna_start": 4773,
"cds_end": null,
"cds_length": 5196,
"cds_start": 4642,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000948319.1",
"gene_hgnc_id": 30322,
"gene_symbol": "ARHGEF28",
"hgvs_c": "c.4642C>T",
"hgvs_p": "p.Pro1548Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618378.1",
"strand": true,
"transcript": "ENST00000948319.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1705,
"aa_ref": "P",
"aa_start": 1548,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6690,
"cdna_start": 4836,
"cds_end": null,
"cds_length": 5118,
"cds_start": 4642,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000872894.1",
"gene_hgnc_id": 30322,
"gene_symbol": "ARHGEF28",
"hgvs_c": "c.4642C>T",
"hgvs_p": "p.Pro1548Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542953.1",
"strand": true,
"transcript": "ENST00000872894.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1696,
"aa_ref": "P",
"aa_start": 1513,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5406,
"cdna_start": 4678,
"cds_end": null,
"cds_length": 5091,
"cds_start": 4537,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000872896.1",
"gene_hgnc_id": 30322,
"gene_symbol": "ARHGEF28",
"hgvs_c": "c.4537C>T",
"hgvs_p": "p.Pro1513Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542955.1",
"strand": true,
"transcript": "ENST00000872896.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1667,
"aa_ref": "P",
"aa_start": 1510,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5420,
"cdna_start": 4770,
"cds_end": null,
"cds_length": 5004,
"cds_start": 4528,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000872895.1",
"gene_hgnc_id": 30322,
"gene_symbol": "ARHGEF28",
"hgvs_c": "c.4528C>T",
"hgvs_p": "p.Pro1510Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542954.1",
"strand": true,
"transcript": "ENST00000872895.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1651,
"aa_ref": "P",
"aa_start": 1548,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5214,
"cdna_start": 4780,
"cds_end": null,
"cds_length": 4956,
"cds_start": 4642,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "NM_001388078.1",
"gene_hgnc_id": 30322,
"gene_symbol": "ARHGEF28",
"hgvs_c": "c.4642C>T",
"hgvs_p": "p.Pro1548Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001375007.1",
"strand": true,
"transcript": "NM_001388078.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1651,
"aa_ref": "P",
"aa_start": 1548,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5246,
"cdna_start": 4818,
"cds_end": null,
"cds_length": 4956,
"cds_start": 4642,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000296794.10",
"gene_hgnc_id": 30322,
"gene_symbol": "ARHGEF28",
"hgvs_c": "c.4642C>T",
"hgvs_p": "p.Pro1548Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000296794.6",
"strand": true,
"transcript": "ENST00000296794.10",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1607,
"aa_ref": "P",
"aa_start": 1450,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5939,
"cdna_start": 4486,
"cds_end": null,
"cds_length": 4824,
"cds_start": 4348,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "NM_001388076.1",
"gene_hgnc_id": 30322,
"gene_symbol": "ARHGEF28",
"hgvs_c": "c.4348C>T",
"hgvs_p": "p.Pro1450Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001375005.1",
"strand": true,
"transcript": "NM_001388076.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1607,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5131,
"cdna_start": 4480,
"cds_end": null,
"cds_length": 4824,
"cds_start": 4348,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000872897.1",
"gene_hgnc_id": 30322,
"gene_symbol": "ARHGEF28",
"hgvs_c": "c.4348C>T",
"hgvs_p": "p.Pro1450Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542956.1",
"strand": true,
"transcript": "ENST00000872897.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1392,
"aa_ref": "P",
"aa_start": 1235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5199,
"cdna_start": 3746,
"cds_end": null,
"cds_length": 4179,
"cds_start": 3703,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001244364.2",
"gene_hgnc_id": 30322,
"gene_symbol": "ARHGEF28",
"hgvs_c": "c.3703C>T",
"hgvs_p": "p.Pro1235Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001231293.1",
"strand": true,
"transcript": "NM_001244364.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1392,
"aa_ref": "P",
"aa_start": 1235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4424,
"cdna_start": 3774,
"cds_end": null,
"cds_length": 4179,
"cds_start": 3703,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000296799.8",
"gene_hgnc_id": 30322,
"gene_symbol": "ARHGEF28",
"hgvs_c": "c.3703C>T",
"hgvs_p": "p.Pro1235Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000296799.4",
"strand": true,
"transcript": "ENST00000296799.8",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 651,
"aa_ref": "P",
"aa_start": 468,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2936,
"cdna_start": 1402,
"cds_end": null,
"cds_length": 1956,
"cds_start": 1402,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000512883.1",
"gene_hgnc_id": 30322,
"gene_symbol": "ARHGEF28",
"hgvs_c": "c.1402C>T",
"hgvs_p": "p.Pro468Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000421081.1",
"strand": true,
"transcript": "ENST00000512883.1",
"transcript_support_level": 2
},
{
"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": 1926,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000503341.1",
"gene_hgnc_id": 30322,
"gene_symbol": "ARHGEF28",
"hgvs_c": "n.1493C>T",
"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": "ENST00000503341.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 607,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000804413.1",
"gene_hgnc_id": 59068,
"gene_symbol": "ENSG00000304540",
"hgvs_c": "n.78+3272G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000804413.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs17634865",
"effect": "missense_variant",
"frequency_reference_population": 0.037338275,
"gene_hgnc_id": 30322,
"gene_symbol": "ARHGEF28",
"gnomad_exomes_ac": 50613,
"gnomad_exomes_af": 0.0373648,
"gnomad_exomes_homalt": 1072,
"gnomad_genomes_ac": 5646,
"gnomad_genomes_af": 0.0371018,
"gnomad_genomes_homalt": 107,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 1179,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not specified|not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": -1.07,
"pos": 73909892,
"ref": "C",
"revel_prediction": "Benign",
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"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
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"transcript": "NM_001080479.3"
}
]
}