← Back to variant description
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: 22-50144121-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=50144121&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MOV10L1",
"hgnc_id": 7201,
"hgvs_c": "c.2383C>T",
"hgvs_p": "p.Arg795Trp",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_018995.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 7,
"alphamissense_prediction": null,
"alphamissense_score": 0.8111,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.39,
"chr": "22",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9267045259475708,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1211,
"aa_ref": "R",
"aa_start": 795,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3957,
"cdna_start": 2466,
"cds_end": null,
"cds_length": 3636,
"cds_start": 2383,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_018995.3",
"gene_hgnc_id": 7201,
"gene_symbol": "MOV10L1",
"hgvs_c": "c.2383C>T",
"hgvs_p": "p.Arg795Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000262794.10",
"protein_coding": true,
"protein_id": "NP_061868.1",
"strand": true,
"transcript": "NM_018995.3",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1211,
"aa_ref": "R",
"aa_start": 795,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3957,
"cdna_start": 2466,
"cds_end": null,
"cds_length": 3636,
"cds_start": 2383,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000262794.10",
"gene_hgnc_id": 7201,
"gene_symbol": "MOV10L1",
"hgvs_c": "c.2383C>T",
"hgvs_p": "p.Arg795Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018995.3",
"protein_coding": true,
"protein_id": "ENSP00000262794.5",
"strand": true,
"transcript": "ENST00000262794.10",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1165,
"aa_ref": "R",
"aa_start": 795,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3763,
"cdna_start": 2407,
"cds_end": null,
"cds_length": 3498,
"cds_start": 2383,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000395858.7",
"gene_hgnc_id": 7201,
"gene_symbol": "MOV10L1",
"hgvs_c": "c.2383C>T",
"hgvs_p": "p.Arg795Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379199.3",
"strand": true,
"transcript": "ENST00000395858.7",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1165,
"aa_ref": "R",
"aa_start": 795,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3819,
"cdna_start": 2466,
"cds_end": null,
"cds_length": 3498,
"cds_start": 2383,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001164104.2",
"gene_hgnc_id": 7201,
"gene_symbol": "MOV10L1",
"hgvs_c": "c.2383C>T",
"hgvs_p": "p.Arg795Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001157576.1",
"strand": true,
"transcript": "NM_001164104.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1165,
"aa_ref": "R",
"aa_start": 775,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4192,
"cdna_start": 2793,
"cds_end": null,
"cds_length": 3498,
"cds_start": 2323,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001164105.2",
"gene_hgnc_id": 7201,
"gene_symbol": "MOV10L1",
"hgvs_c": "c.2323C>T",
"hgvs_p": "p.Arg775Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001157577.1",
"strand": true,
"transcript": "NM_001164105.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1165,
"aa_ref": "R",
"aa_start": 775,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3941,
"cdna_start": 2543,
"cds_end": null,
"cds_length": 3498,
"cds_start": 2323,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000540615.5",
"gene_hgnc_id": 7201,
"gene_symbol": "MOV10L1",
"hgvs_c": "c.2323C>T",
"hgvs_p": "p.Arg775Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000438542.1",
"strand": true,
"transcript": "ENST00000540615.5",
"transcript_support_level": 2
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1256,
"aa_ref": "R",
"aa_start": 795,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4092,
"cdna_start": 2466,
"cds_end": null,
"cds_length": 3771,
"cds_start": 2383,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_011530696.2",
"gene_hgnc_id": 7201,
"gene_symbol": "MOV10L1",
"hgvs_c": "c.2383C>T",
"hgvs_p": "p.Arg795Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011528998.1",
"strand": true,
"transcript": "XM_011530696.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1236,
"aa_ref": "R",
"aa_start": 775,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4419,
"cdna_start": 2793,
"cds_end": null,
"cds_length": 3711,
"cds_start": 2323,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_011530697.2",
"gene_hgnc_id": 7201,
"gene_symbol": "MOV10L1",
"hgvs_c": "c.2323C>T",
"hgvs_p": "p.Arg775Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011528999.1",
"strand": true,
"transcript": "XM_011530697.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1210,
"aa_ref": "R",
"aa_start": 795,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3954,
"cdna_start": 2466,
"cds_end": null,
"cds_length": 3633,
"cds_start": 2383,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_017028833.2",
"gene_hgnc_id": 7201,
"gene_symbol": "MOV10L1",
"hgvs_c": "c.2383C>T",
"hgvs_p": "p.Arg795Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016884322.1",
"strand": true,
"transcript": "XM_017028833.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1209,
"aa_ref": "R",
"aa_start": 748,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3951,
"cdna_start": 2325,
"cds_end": null,
"cds_length": 3630,
"cds_start": 2242,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_011530698.2",
"gene_hgnc_id": 7201,
"gene_symbol": "MOV10L1",
"hgvs_c": "c.2242C>T",
"hgvs_p": "p.Arg748Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011529000.1",
"strand": true,
"transcript": "XM_011530698.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1204,
"aa_ref": "R",
"aa_start": 743,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4063,
"cdna_start": 2437,
"cds_end": null,
"cds_length": 3615,
"cds_start": 2227,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_011530699.2",
"gene_hgnc_id": 7201,
"gene_symbol": "MOV10L1",
"hgvs_c": "c.2227C>T",
"hgvs_p": "p.Arg743Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011529001.1",
"strand": true,
"transcript": "XM_011530699.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1204,
"aa_ref": "R",
"aa_start": 743,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4437,
"cdna_start": 2811,
"cds_end": null,
"cds_length": 3615,
"cds_start": 2227,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_011530700.3",
"gene_hgnc_id": 7201,
"gene_symbol": "MOV10L1",
"hgvs_c": "c.2227C>T",
"hgvs_p": "p.Arg743Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011529002.1",
"strand": true,
"transcript": "XM_011530700.3",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1191,
"aa_ref": "R",
"aa_start": 775,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4284,
"cdna_start": 2793,
"cds_end": null,
"cds_length": 3576,
"cds_start": 2323,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_005261923.5",
"gene_hgnc_id": 7201,
"gene_symbol": "MOV10L1",
"hgvs_c": "c.2323C>T",
"hgvs_p": "p.Arg775Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005261980.1",
"strand": true,
"transcript": "XM_005261923.5",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1074,
"aa_ref": "R",
"aa_start": 795,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3390,
"cdna_start": 2466,
"cds_end": null,
"cds_length": 3225,
"cds_start": 2383,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_011530701.1",
"gene_hgnc_id": 7201,
"gene_symbol": "MOV10L1",
"hgvs_c": "c.2383C>T",
"hgvs_p": "p.Arg795Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011529003.1",
"strand": true,
"transcript": "XM_011530701.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 924,
"aa_ref": "R",
"aa_start": 554,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3380,
"cdna_start": 2027,
"cds_end": null,
"cds_length": 2775,
"cds_start": 1660,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047441413.1",
"gene_hgnc_id": 7201,
"gene_symbol": "MOV10L1",
"hgvs_c": "c.1660C>T",
"hgvs_p": "p.Arg554Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297369.1",
"strand": true,
"transcript": "XM_047441413.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 880,
"aa_ref": "R",
"aa_start": 795,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2819,
"cdna_start": 2466,
"cds_end": null,
"cds_length": 2643,
"cds_start": 2383,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047441414.1",
"gene_hgnc_id": 7201,
"gene_symbol": "MOV10L1",
"hgvs_c": "c.2383C>T",
"hgvs_p": "p.Arg795Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297370.1",
"strand": true,
"transcript": "XM_047441414.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 730,
"aa_ref": "R",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2507,
"cdna_start": 881,
"cds_end": null,
"cds_length": 2193,
"cds_start": 805,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_017028835.2",
"gene_hgnc_id": 7201,
"gene_symbol": "MOV10L1",
"hgvs_c": "c.805C>T",
"hgvs_p": "p.Arg269Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016884324.1",
"strand": true,
"transcript": "XM_017028835.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 730,
"aa_ref": "R",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2461,
"cdna_start": 835,
"cds_end": null,
"cds_length": 2193,
"cds_start": 805,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_017028836.2",
"gene_hgnc_id": 7201,
"gene_symbol": "MOV10L1",
"hgvs_c": "c.805C>T",
"hgvs_p": "p.Arg269Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016884325.1",
"strand": true,
"transcript": "XM_017028836.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 730,
"aa_ref": "R",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2530,
"cdna_start": 904,
"cds_end": null,
"cds_length": 2193,
"cds_start": 805,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047441415.1",
"gene_hgnc_id": 7201,
"gene_symbol": "MOV10L1",
"hgvs_c": "c.805C>T",
"hgvs_p": "p.Arg269Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297371.1",
"strand": true,
"transcript": "XM_047441415.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs2272836",
"effect": "missense_variant",
"frequency_reference_population": 0.000004800979,
"gene_hgnc_id": 7201,
"gene_symbol": "MOV10L1",
"gnomad_exomes_ac": 7,
"gnomad_exomes_af": 0.00000480098,
"gnomad_exomes_homalt": 0,
"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": "Uncertain_significance",
"phylop100way_score": 4.554,
"pos": 50144121,
"ref": "C",
"revel_prediction": "Pathogenic",
"revel_score": 0.838,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.14000000059604645,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.14,
"transcript": "NM_018995.3"
}
]
}