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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: 1-167924521-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=167924521&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "MPC2",
"hgnc_id": 24515,
"hgvs_c": "c.126C>T",
"hgvs_p": "p.Phe42Phe",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_015415.3",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "DCAF6",
"hgnc_id": 30002,
"hgvs_c": "c.-344-27279G>A",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "XM_047425194.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_score": -13,
"allele_count_reference_population": 552486,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.51,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5099999904632568,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 127,
"aa_ref": "F",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2223,
"cdna_start": 317,
"cds_end": null,
"cds_length": 384,
"cds_start": 126,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001143674.4",
"gene_hgnc_id": 24515,
"gene_symbol": "MPC2",
"hgvs_c": "c.126C>T",
"hgvs_p": "p.Phe42Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000271373.9",
"protein_coding": true,
"protein_id": "NP_001137146.1",
"strand": false,
"transcript": "NM_001143674.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 127,
"aa_ref": "F",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2223,
"cdna_start": 317,
"cds_end": null,
"cds_length": 384,
"cds_start": 126,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000271373.9",
"gene_hgnc_id": 24515,
"gene_symbol": "MPC2",
"hgvs_c": "c.126C>T",
"hgvs_p": "p.Phe42Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001143674.4",
"protein_coding": true,
"protein_id": "ENSP00000271373.4",
"strand": false,
"transcript": "ENST00000271373.9",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 127,
"aa_ref": "F",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2177,
"cdna_start": 325,
"cds_end": null,
"cds_length": 384,
"cds_start": 126,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000367846.8",
"gene_hgnc_id": 24515,
"gene_symbol": "MPC2",
"hgvs_c": "c.126C>T",
"hgvs_p": "p.Phe42Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356820.4",
"strand": false,
"transcript": "ENST00000367846.8",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 127,
"aa_ref": "F",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2154,
"cdna_start": 248,
"cds_end": null,
"cds_length": 384,
"cds_start": 126,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_015415.3",
"gene_hgnc_id": 24515,
"gene_symbol": "MPC2",
"hgvs_c": "c.126C>T",
"hgvs_p": "p.Phe42Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_056230.1",
"strand": false,
"transcript": "NM_015415.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 127,
"aa_ref": "F",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1194,
"cdna_start": 681,
"cds_end": null,
"cds_length": 384,
"cds_start": 126,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000856458.1",
"gene_hgnc_id": 24515,
"gene_symbol": "MPC2",
"hgvs_c": "c.126C>T",
"hgvs_p": "p.Phe42Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526517.1",
"strand": false,
"transcript": "ENST00000856458.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 127,
"aa_ref": "F",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 738,
"cdna_start": 230,
"cds_end": null,
"cds_length": 384,
"cds_start": 126,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000856459.1",
"gene_hgnc_id": 24515,
"gene_symbol": "MPC2",
"hgvs_c": "c.126C>T",
"hgvs_p": "p.Phe42Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526518.1",
"strand": false,
"transcript": "ENST00000856459.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 127,
"aa_ref": "F",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1129,
"cdna_start": 622,
"cds_end": null,
"cds_length": 384,
"cds_start": 126,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000856460.1",
"gene_hgnc_id": 24515,
"gene_symbol": "MPC2",
"hgvs_c": "c.126C>T",
"hgvs_p": "p.Phe42Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526519.1",
"strand": false,
"transcript": "ENST00000856460.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 127,
"aa_ref": "F",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1124,
"cdna_start": 613,
"cds_end": null,
"cds_length": 384,
"cds_start": 126,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000856461.1",
"gene_hgnc_id": 24515,
"gene_symbol": "MPC2",
"hgvs_c": "c.126C>T",
"hgvs_p": "p.Phe42Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526520.1",
"strand": false,
"transcript": "ENST00000856461.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 127,
"aa_ref": "F",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 770,
"cdna_start": 261,
"cds_end": null,
"cds_length": 384,
"cds_start": 126,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000856462.1",
"gene_hgnc_id": 24515,
"gene_symbol": "MPC2",
"hgvs_c": "c.126C>T",
"hgvs_p": "p.Phe42Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526521.1",
"strand": false,
"transcript": "ENST00000856462.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 127,
"aa_ref": "F",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 828,
"cdna_start": 315,
"cds_end": null,
"cds_length": 384,
"cds_start": 126,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000936468.1",
"gene_hgnc_id": 24515,
"gene_symbol": "MPC2",
"hgvs_c": "c.126C>T",
"hgvs_p": "p.Phe42Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606527.1",
"strand": false,
"transcript": "ENST00000936468.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 127,
"aa_ref": "F",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 742,
"cdna_start": 233,
"cds_end": null,
"cds_length": 384,
"cds_start": 126,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000936469.1",
"gene_hgnc_id": 24515,
"gene_symbol": "MPC2",
"hgvs_c": "c.126C>T",
"hgvs_p": "p.Phe42Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606528.1",
"strand": false,
"transcript": "ENST00000936469.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 127,
"aa_ref": "F",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 933,
"cdna_start": 424,
"cds_end": null,
"cds_length": 384,
"cds_start": 126,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000936470.1",
"gene_hgnc_id": 24515,
"gene_symbol": "MPC2",
"hgvs_c": "c.126C>T",
"hgvs_p": "p.Phe42Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606529.1",
"strand": false,
"transcript": "ENST00000936470.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 127,
"aa_ref": "F",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 722,
"cdna_start": 209,
"cds_end": null,
"cds_length": 384,
"cds_start": 126,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000936471.1",
"gene_hgnc_id": 24515,
"gene_symbol": "MPC2",
"hgvs_c": "c.126C>T",
"hgvs_p": "p.Phe42Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606530.1",
"strand": false,
"transcript": "ENST00000936471.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 104,
"aa_ref": "F",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 645,
"cdna_start": 456,
"cds_end": null,
"cds_length": 315,
"cds_start": 126,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000458574.1",
"gene_hgnc_id": 24515,
"gene_symbol": "MPC2",
"hgvs_c": "c.126C>T",
"hgvs_p": "p.Phe42Phe",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392874.1",
"strand": false,
"transcript": "ENST00000458574.1",
"transcript_support_level": 5
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 127,
"aa_ref": "F",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2371,
"cdna_start": 465,
"cds_end": null,
"cds_length": 384,
"cds_start": 126,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_006711266.4",
"gene_hgnc_id": 24515,
"gene_symbol": "MPC2",
"hgvs_c": "c.126C>T",
"hgvs_p": "p.Phe42Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006711329.1",
"strand": false,
"transcript": "XM_006711266.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 57,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 579,
"cdna_start": null,
"cds_end": null,
"cds_length": 174,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000856463.1",
"gene_hgnc_id": 24515,
"gene_symbol": "MPC2",
"hgvs_c": "c.110-4515C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526522.1",
"strand": false,
"transcript": "ENST00000856463.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 804,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3423,
"cdna_start": null,
"cds_end": null,
"cds_length": 2415,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047425194.1",
"gene_hgnc_id": 30002,
"gene_symbol": "DCAF6",
"hgvs_c": "c.-344-27279G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281150.1",
"strand": true,
"transcript": "XM_047425194.1",
"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": 2187,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NR_026550.3",
"gene_hgnc_id": 24515,
"gene_symbol": "MPC2",
"hgvs_c": "n.281C>T",
"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": "NR_026550.3",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs9618",
"effect": "synonymous_variant",
"frequency_reference_population": 0.35343948,
"gene_hgnc_id": 24515,
"gene_symbol": "MPC2",
"gnomad_exomes_ac": 487852,
"gnomad_exomes_af": 0.345417,
"gnomad_exomes_homalt": 87938,
"gnomad_genomes_ac": 64634,
"gnomad_genomes_af": 0.428573,
"gnomad_genomes_homalt": 15070,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 103008,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.97,
"pos": 167924521,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_015415.3"
}
]
}