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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: 22-50149702-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=50149702&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MOV10L1",
"hgnc_id": 7201,
"hgvs_c": "c.2715C>A",
"hgvs_p": "p.Asp905Glu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_018995.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.1455,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.34,
"chr": "22",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.03673359751701355,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1211,
"aa_ref": "D",
"aa_start": 905,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3957,
"cdna_start": 2798,
"cds_end": null,
"cds_length": 3636,
"cds_start": 2715,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_018995.3",
"gene_hgnc_id": 7201,
"gene_symbol": "MOV10L1",
"hgvs_c": "c.2715C>A",
"hgvs_p": "p.Asp905Glu",
"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": "E",
"aa_end": null,
"aa_length": 1211,
"aa_ref": "D",
"aa_start": 905,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3957,
"cdna_start": 2798,
"cds_end": null,
"cds_length": 3636,
"cds_start": 2715,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000262794.10",
"gene_hgnc_id": 7201,
"gene_symbol": "MOV10L1",
"hgvs_c": "c.2715C>A",
"hgvs_p": "p.Asp905Glu",
"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": "E",
"aa_end": null,
"aa_length": 1165,
"aa_ref": "D",
"aa_start": 905,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3763,
"cdna_start": 2739,
"cds_end": null,
"cds_length": 3498,
"cds_start": 2715,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000395858.7",
"gene_hgnc_id": 7201,
"gene_symbol": "MOV10L1",
"hgvs_c": "c.2715C>A",
"hgvs_p": "p.Asp905Glu",
"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": "E",
"aa_end": null,
"aa_length": 1165,
"aa_ref": "D",
"aa_start": 905,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3819,
"cdna_start": 2798,
"cds_end": null,
"cds_length": 3498,
"cds_start": 2715,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001164104.2",
"gene_hgnc_id": 7201,
"gene_symbol": "MOV10L1",
"hgvs_c": "c.2715C>A",
"hgvs_p": "p.Asp905Glu",
"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": "E",
"aa_end": null,
"aa_length": 1165,
"aa_ref": "D",
"aa_start": 885,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4192,
"cdna_start": 3125,
"cds_end": null,
"cds_length": 3498,
"cds_start": 2655,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001164105.2",
"gene_hgnc_id": 7201,
"gene_symbol": "MOV10L1",
"hgvs_c": "c.2655C>A",
"hgvs_p": "p.Asp885Glu",
"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": "E",
"aa_end": null,
"aa_length": 1165,
"aa_ref": "D",
"aa_start": 885,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3941,
"cdna_start": 2875,
"cds_end": null,
"cds_length": 3498,
"cds_start": 2655,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000540615.5",
"gene_hgnc_id": 7201,
"gene_symbol": "MOV10L1",
"hgvs_c": "c.2655C>A",
"hgvs_p": "p.Asp885Glu",
"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": "E",
"aa_end": null,
"aa_length": 338,
"aa_ref": "D",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1342,
"cdna_start": 183,
"cds_end": null,
"cds_length": 1017,
"cds_start": 96,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001164106.1",
"gene_hgnc_id": 7201,
"gene_symbol": "MOV10L1",
"hgvs_c": "c.96C>A",
"hgvs_p": "p.Asp32Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001157578.1",
"strand": true,
"transcript": "NM_001164106.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 338,
"aa_ref": "D",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1422,
"cdna_start": 273,
"cds_end": null,
"cds_length": 1017,
"cds_start": 96,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000395852.5",
"gene_hgnc_id": 7201,
"gene_symbol": "MOV10L1",
"hgvs_c": "c.96C>A",
"hgvs_p": "p.Asp32Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379193.1",
"strand": true,
"transcript": "ENST00000395852.5",
"transcript_support_level": 2
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 125,
"aa_ref": "D",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1701,
"cdna_start": 314,
"cds_end": null,
"cds_length": 378,
"cds_start": 9,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000354853.2",
"gene_hgnc_id": 7201,
"gene_symbol": "MOV10L1",
"hgvs_c": "c.9C>A",
"hgvs_p": "p.Asp3Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000346917.2",
"strand": true,
"transcript": "ENST00000354853.2",
"transcript_support_level": 2
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1256,
"aa_ref": "D",
"aa_start": 905,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4092,
"cdna_start": 2798,
"cds_end": null,
"cds_length": 3771,
"cds_start": 2715,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_011530696.2",
"gene_hgnc_id": 7201,
"gene_symbol": "MOV10L1",
"hgvs_c": "c.2715C>A",
"hgvs_p": "p.Asp905Glu",
"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": "E",
"aa_end": null,
"aa_length": 1236,
"aa_ref": "D",
"aa_start": 885,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4419,
"cdna_start": 3125,
"cds_end": null,
"cds_length": 3711,
"cds_start": 2655,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_011530697.2",
"gene_hgnc_id": 7201,
"gene_symbol": "MOV10L1",
"hgvs_c": "c.2655C>A",
"hgvs_p": "p.Asp885Glu",
"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": "E",
"aa_end": null,
"aa_length": 1210,
"aa_ref": "D",
"aa_start": 905,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3954,
"cdna_start": 2798,
"cds_end": null,
"cds_length": 3633,
"cds_start": 2715,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_017028833.2",
"gene_hgnc_id": 7201,
"gene_symbol": "MOV10L1",
"hgvs_c": "c.2715C>A",
"hgvs_p": "p.Asp905Glu",
"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": "E",
"aa_end": null,
"aa_length": 1209,
"aa_ref": "D",
"aa_start": 858,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3951,
"cdna_start": 2657,
"cds_end": null,
"cds_length": 3630,
"cds_start": 2574,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_011530698.2",
"gene_hgnc_id": 7201,
"gene_symbol": "MOV10L1",
"hgvs_c": "c.2574C>A",
"hgvs_p": "p.Asp858Glu",
"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": "E",
"aa_end": null,
"aa_length": 1204,
"aa_ref": "D",
"aa_start": 853,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4063,
"cdna_start": 2769,
"cds_end": null,
"cds_length": 3615,
"cds_start": 2559,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_011530699.2",
"gene_hgnc_id": 7201,
"gene_symbol": "MOV10L1",
"hgvs_c": "c.2559C>A",
"hgvs_p": "p.Asp853Glu",
"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": "E",
"aa_end": null,
"aa_length": 1204,
"aa_ref": "D",
"aa_start": 853,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4437,
"cdna_start": 3143,
"cds_end": null,
"cds_length": 3615,
"cds_start": 2559,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_011530700.3",
"gene_hgnc_id": 7201,
"gene_symbol": "MOV10L1",
"hgvs_c": "c.2559C>A",
"hgvs_p": "p.Asp853Glu",
"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": "E",
"aa_end": null,
"aa_length": 1191,
"aa_ref": "D",
"aa_start": 885,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4284,
"cdna_start": 3125,
"cds_end": null,
"cds_length": 3576,
"cds_start": 2655,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_005261923.5",
"gene_hgnc_id": 7201,
"gene_symbol": "MOV10L1",
"hgvs_c": "c.2655C>A",
"hgvs_p": "p.Asp885Glu",
"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": "E",
"aa_end": null,
"aa_length": 1074,
"aa_ref": "D",
"aa_start": 905,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3390,
"cdna_start": 2798,
"cds_end": null,
"cds_length": 3225,
"cds_start": 2715,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_011530701.1",
"gene_hgnc_id": 7201,
"gene_symbol": "MOV10L1",
"hgvs_c": "c.2715C>A",
"hgvs_p": "p.Asp905Glu",
"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": "E",
"aa_end": null,
"aa_length": 924,
"aa_ref": "D",
"aa_start": 664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3380,
"cdna_start": 2359,
"cds_end": null,
"cds_length": 2775,
"cds_start": 1992,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047441413.1",
"gene_hgnc_id": 7201,
"gene_symbol": "MOV10L1",
"hgvs_c": "c.1992C>A",
"hgvs_p": "p.Asp664Glu",
"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": "E",
"aa_end": null,
"aa_length": 730,
"aa_ref": "D",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2507,
"cdna_start": 1213,
"cds_end": null,
"cds_length": 2193,
"cds_start": 1137,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_017028835.2",
"gene_hgnc_id": 7201,
"gene_symbol": "MOV10L1",
"hgvs_c": "c.1137C>A",
"hgvs_p": "p.Asp379Glu",
"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": "E",
"aa_end": null,
"aa_length": 730,
"aa_ref": "D",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2461,
"cdna_start": 1167,
"cds_end": null,
"cds_length": 2193,
"cds_start": 1137,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_017028836.2",
"gene_hgnc_id": 7201,
"gene_symbol": "MOV10L1",
"hgvs_c": "c.1137C>A",
"hgvs_p": "p.Asp379Glu",
"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": "E",
"aa_end": null,
"aa_length": 730,
"aa_ref": "D",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2530,
"cdna_start": 1236,
"cds_end": null,
"cds_length": 2193,
"cds_start": 1137,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047441415.1",
"gene_hgnc_id": 7201,
"gene_symbol": "MOV10L1",
"hgvs_c": "c.1137C>A",
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