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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: 17-17042951-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=17042951&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 17042951,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001364716.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPRIP",
"gene_hgnc_id": 30321,
"hgvs_c": "c.103A>C",
"hgvs_p": "p.Asn35His",
"transcript": "NM_001364716.4",
"protein_id": "NP_001351645.2",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 2425,
"cds_start": 103,
"cds_end": null,
"cds_length": 7278,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 15419,
"mane_select": "ENST00000651222.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPRIP",
"gene_hgnc_id": 30321,
"hgvs_c": "c.103A>C",
"hgvs_p": "p.Asn35His",
"transcript": "ENST00000651222.2",
"protein_id": "ENSP00000498253.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 2425,
"cds_start": 103,
"cds_end": null,
"cds_length": 7278,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 15419,
"mane_select": "NM_001364716.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPRIP",
"gene_hgnc_id": 30321,
"hgvs_c": "c.103A>C",
"hgvs_p": "p.Asn35His",
"transcript": "ENST00000395811.9",
"protein_id": "ENSP00000379156.4",
"transcript_support_level": 1,
"aa_start": 35,
"aa_end": null,
"aa_length": 1038,
"cds_start": 103,
"cds_end": null,
"cds_length": 3117,
"cdna_start": 192,
"cdna_end": null,
"cdna_length": 10960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPRIP",
"gene_hgnc_id": 30321,
"hgvs_c": "c.103A>C",
"hgvs_p": "p.Asn35His",
"transcript": "NM_015134.4",
"protein_id": "NP_055949.2",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 1038,
"cds_start": 103,
"cds_end": null,
"cds_length": 3117,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 11258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPRIP",
"gene_hgnc_id": 30321,
"hgvs_c": "c.103A>C",
"hgvs_p": "p.Asn35His",
"transcript": "NM_201274.4",
"protein_id": "NP_958431.2",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 1025,
"cds_start": 103,
"cds_end": null,
"cds_length": 3078,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 11321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPRIP",
"gene_hgnc_id": 30321,
"hgvs_c": "c.103A>C",
"hgvs_p": "p.Asn35His",
"transcript": "ENST00000341712.8",
"protein_id": "ENSP00000342379.4",
"transcript_support_level": 5,
"aa_start": 35,
"aa_end": null,
"aa_length": 1025,
"cds_start": 103,
"cds_end": null,
"cds_length": 3078,
"cdna_start": 103,
"cdna_end": null,
"cdna_length": 3846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPRIP",
"gene_hgnc_id": 30321,
"hgvs_c": "c.103A>C",
"hgvs_p": "p.Asn35His",
"transcript": "ENST00000577514.5",
"protein_id": "ENSP00000462532.1",
"transcript_support_level": 5,
"aa_start": 35,
"aa_end": null,
"aa_length": 138,
"cds_start": 103,
"cds_end": null,
"cds_length": 419,
"cdna_start": 197,
"cdna_end": null,
"cdna_length": 513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPRIP",
"gene_hgnc_id": 30321,
"hgvs_c": "c.103A>C",
"hgvs_p": "p.Asn35His",
"transcript": "ENST00000395806.5",
"protein_id": "ENSP00000379151.1",
"transcript_support_level": 3,
"aa_start": 35,
"aa_end": null,
"aa_length": 63,
"cds_start": 103,
"cds_end": null,
"cds_length": 192,
"cdna_start": 192,
"cdna_end": null,
"cdna_length": 527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPRIP",
"gene_hgnc_id": 30321,
"hgvs_c": "c.199A>C",
"hgvs_p": "p.Asn67His",
"transcript": "XM_011523763.3",
"protein_id": "XP_011522065.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 2419,
"cds_start": 199,
"cds_end": null,
"cds_length": 7260,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 15305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPRIP",
"gene_hgnc_id": 30321,
"hgvs_c": "c.199A>C",
"hgvs_p": "p.Asn67His",
"transcript": "XM_011523764.3",
"protein_id": "XP_011522066.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 2417,
"cds_start": 199,
"cds_end": null,
"cds_length": 7254,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 15299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPRIP",
"gene_hgnc_id": 30321,
"hgvs_c": "c.199A>C",
"hgvs_p": "p.Asn67His",
"transcript": "XM_005256563.5",
"protein_id": "XP_005256620.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 2339,
"cds_start": 199,
"cds_end": null,
"cds_length": 7020,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 15065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPRIP",
"gene_hgnc_id": 30321,
"hgvs_c": "c.199A>C",
"hgvs_p": "p.Asn67His",
"transcript": "XM_047435683.1",
"protein_id": "XP_047291639.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 2299,
"cds_start": 199,
"cds_end": null,
"cds_length": 6900,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 14945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPRIP",
"gene_hgnc_id": 30321,
"hgvs_c": "c.199A>C",
"hgvs_p": "p.Asn67His",
"transcript": "XM_011523766.3",
"protein_id": "XP_011522068.2",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 1188,
"cds_start": 199,
"cds_end": null,
"cds_length": 3567,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 11612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPRIP",
"gene_hgnc_id": 30321,
"hgvs_c": "c.199A>C",
"hgvs_p": "p.Asn67His",
"transcript": "XM_047435684.1",
"protein_id": "XP_047291640.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 1150,
"cds_start": 199,
"cds_end": null,
"cds_length": 3453,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 11498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPRIP",
"gene_hgnc_id": 30321,
"hgvs_c": "c.199A>C",
"hgvs_p": "p.Asn67His",
"transcript": "XM_047435685.1",
"protein_id": "XP_047291641.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 1148,
"cds_start": 199,
"cds_end": null,
"cds_length": 3447,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 11492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPRIP",
"gene_hgnc_id": 30321,
"hgvs_c": "c.199A>C",
"hgvs_p": "p.Asn67His",
"transcript": "XM_005256564.5",
"protein_id": "XP_005256621.3",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 1032,
"cds_start": 199,
"cds_end": null,
"cds_length": 3099,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 11144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPRIP",
"gene_hgnc_id": 30321,
"hgvs_c": "c.199A>C",
"hgvs_p": "p.Asn67His",
"transcript": "XM_047435686.1",
"protein_id": "XP_047291642.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 1030,
"cds_start": 199,
"cds_end": null,
"cds_length": 3093,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 11138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPRIP",
"gene_hgnc_id": 30321,
"hgvs_c": "n.192A>C",
"hgvs_p": null,
"transcript": "ENST00000395807.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MPRIP",
"gene_hgnc_id": 30321,
"dbsnp": "rs1226623799",
"frequency_reference_population": 6.8551185e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85512e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.19325196743011475,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.107,
"revel_prediction": "Benign",
"alphamissense_score": 0.1888,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.415,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001364716.4",
"gene_symbol": "MPRIP",
"hgnc_id": 30321,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.103A>C",
"hgvs_p": "p.Asn35His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}