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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: 20-17975704-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=17975704&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 17975704,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000377710.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Trp",
"transcript": "NM_052865.4",
"protein_id": "NP_443097.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 344,
"cds_start": 532,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 2231,
"mane_select": "ENST00000377710.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Trp",
"transcript": "ENST00000377710.10",
"protein_id": "ENSP00000366939.5",
"transcript_support_level": 1,
"aa_start": 178,
"aa_end": null,
"aa_length": 344,
"cds_start": 532,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 2231,
"mane_select": "NM_052865.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "n.314+5334C>T",
"hgvs_p": null,
"transcript": "ENST00000467391.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.577C>T",
"hgvs_p": "p.Arg193Trp",
"transcript": "NM_001310338.2",
"protein_id": "NP_001297267.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 359,
"cds_start": 577,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 2276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Trp",
"transcript": "NM_001363738.2",
"protein_id": "NP_001350667.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 264,
"cds_start": 292,
"cds_end": null,
"cds_length": 795,
"cdna_start": 475,
"cdna_end": null,
"cdna_length": 1991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Trp",
"transcript": "ENST00000377709.1",
"protein_id": "ENSP00000366938.1",
"transcript_support_level": 2,
"aa_start": 98,
"aa_end": null,
"aa_length": 264,
"cds_start": 292,
"cds_end": null,
"cds_length": 795,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 1936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.577C>T",
"hgvs_p": "p.Arg193Trp",
"transcript": "XM_005260867.4",
"protein_id": "XP_005260924.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 359,
"cds_start": 577,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1233,
"cdna_end": null,
"cdna_length": 2749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.577C>T",
"hgvs_p": "p.Arg193Trp",
"transcript": "XM_011529394.1",
"protein_id": "XP_011527696.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 359,
"cds_start": 577,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 724,
"cdna_end": null,
"cdna_length": 2240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Trp",
"transcript": "XM_017028127.3",
"protein_id": "XP_016883616.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 344,
"cds_start": 532,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1188,
"cdna_end": null,
"cdna_length": 2704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Trp",
"transcript": "XM_017028128.2",
"protein_id": "XP_016883617.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 344,
"cds_start": 532,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 942,
"cdna_end": null,
"cdna_length": 2458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Trp",
"transcript": "XM_047440582.1",
"protein_id": "XP_047296538.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 264,
"cds_start": 292,
"cds_end": null,
"cds_length": 795,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 1955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Trp",
"transcript": "XM_047440583.1",
"protein_id": "XP_047296539.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 264,
"cds_start": 292,
"cds_end": null,
"cds_length": 795,
"cdna_start": 948,
"cdna_end": null,
"cdna_length": 2464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.577C>T",
"hgvs_p": "p.Arg193Trp",
"transcript": "XM_006723663.5",
"protein_id": "XP_006723726.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 263,
"cds_start": 577,
"cds_end": null,
"cds_length": 792,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 2143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.577C>T",
"hgvs_p": "p.Arg193Trp",
"transcript": "XM_047440584.1",
"protein_id": "XP_047296540.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 263,
"cds_start": 577,
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"cds_length": 792,
"cdna_start": 964,
"cdna_end": null,
"cdna_length": 2347,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Trp",
"transcript": "XM_005260870.5",
"protein_id": "XP_005260927.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 248,
"cds_start": 532,
"cds_end": null,
"cds_length": 747,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 2098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Trp",
"transcript": "XM_047440585.1",
"protein_id": "XP_047296541.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 248,
"cds_start": 532,
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"cdna_start": 1188,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Trp",
"transcript": "XM_047440586.1",
"protein_id": "XP_047296542.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 248,
"cds_start": 532,
"cds_end": null,
"cds_length": 747,
"cdna_start": 942,
"cdna_end": null,
"cdna_length": 2325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.511+5334C>T",
"hgvs_p": null,
"transcript": "NM_001310339.2",
"protein_id": "NP_001297268.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 252,
"cds_start": -4,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
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"cdna_length": 1878,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.511+5334C>T",
"hgvs_p": null,
"transcript": "ENST00000377704.4",
"protein_id": "ENSP00000366933.4",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 252,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1781,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "n.100+5574C>T",
"hgvs_p": null,
"transcript": "ENST00000463219.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 571,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "OVOL2",
"gene_hgnc_id": 15804,
"hgvs_c": "n.492-18667G>A",
"hgvs_p": null,
"transcript": "ENST00000486776.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"dbsnp": "rs143417446",
"frequency_reference_population": 0.0055818306,
"hom_count_reference_population": 41,
"allele_count_reference_population": 9005,
"gnomad_exomes_af": 0.0057159,
"gnomad_genomes_af": 0.00429368,
"gnomad_exomes_ac": 8352,
"gnomad_genomes_ac": 653,
"gnomad_exomes_homalt": 40,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.008896201848983765,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.671,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1074,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.691,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000377710.10",
"gene_symbol": "MGME1",
"hgnc_id": 16205,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Trp"
},
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000486776.5",
"gene_symbol": "OVOL2",
"hgnc_id": 15804,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "n.492-18667G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Mitochondrial DNA depletion syndrome 11,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1 B:2 O:1",
"phenotype_combined": "not provided|Mitochondrial DNA depletion syndrome 11",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}