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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: 9-34343276-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=34343276&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 34343276,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001161.5",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT2",
"gene_hgnc_id": 8049,
"hgvs_c": "c.280T>C",
"hgvs_p": "p.Trp94Arg",
"transcript": "NM_001161.5",
"protein_id": "NP_001152.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 147,
"cds_start": 280,
"cds_end": null,
"cds_length": 444,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 998,
"mane_select": "ENST00000379158.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161.5"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT2",
"gene_hgnc_id": 8049,
"hgvs_c": "c.280T>C",
"hgvs_p": "p.Trp94Arg",
"transcript": "ENST00000379158.7",
"protein_id": "ENSP00000368455.1",
"transcript_support_level": 3,
"aa_start": 94,
"aa_end": null,
"aa_length": 147,
"cds_start": 280,
"cds_end": null,
"cds_length": 444,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 998,
"mane_select": "NM_001161.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379158.7"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT2",
"gene_hgnc_id": 8049,
"hgvs_c": "c.280T>C",
"hgvs_p": "p.Trp94Arg",
"transcript": "ENST00000346365.9",
"protein_id": "ENSP00000344187.4",
"transcript_support_level": 1,
"aa_start": 94,
"aa_end": null,
"aa_length": 147,
"cds_start": 280,
"cds_end": null,
"cds_length": 444,
"cdna_start": 525,
"cdna_end": null,
"cdna_length": 962,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346365.9"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT2",
"gene_hgnc_id": 8049,
"hgvs_c": "c.280T>C",
"hgvs_p": "p.Trp94Arg",
"transcript": "NM_001244390.2",
"protein_id": "NP_001231319.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 147,
"cds_start": 280,
"cds_end": null,
"cds_length": 444,
"cdna_start": 327,
"cdna_end": null,
"cdna_length": 750,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244390.2"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT2",
"gene_hgnc_id": 8049,
"hgvs_c": "c.280T>C",
"hgvs_p": "p.Trp94Arg",
"transcript": "NM_147172.3",
"protein_id": "NP_671701.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 147,
"cds_start": 280,
"cds_end": null,
"cds_length": 444,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 927,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_147172.3"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT2",
"gene_hgnc_id": 8049,
"hgvs_c": "c.280T>C",
"hgvs_p": "p.Trp94Arg",
"transcript": "NM_147173.3",
"protein_id": "NP_671702.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 147,
"cds_start": 280,
"cds_end": null,
"cds_length": 444,
"cdna_start": 462,
"cdna_end": null,
"cdna_length": 885,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_147173.3"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT2",
"gene_hgnc_id": 8049,
"hgvs_c": "c.280T>C",
"hgvs_p": "p.Trp94Arg",
"transcript": "ENST00000379155.9",
"protein_id": "ENSP00000368452.5",
"transcript_support_level": 3,
"aa_start": 94,
"aa_end": null,
"aa_length": 147,
"cds_start": 280,
"cds_end": null,
"cds_length": 444,
"cdna_start": 567,
"cdna_end": null,
"cdna_length": 1002,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379155.9"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT2",
"gene_hgnc_id": 8049,
"hgvs_c": "c.280T>C",
"hgvs_p": "p.Trp94Arg",
"transcript": "ENST00000618590.1",
"protein_id": "ENSP00000482384.1",
"transcript_support_level": 3,
"aa_start": 94,
"aa_end": null,
"aa_length": 147,
"cds_start": 280,
"cds_end": null,
"cds_length": 444,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 825,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618590.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT2",
"gene_hgnc_id": 8049,
"hgvs_c": "c.280T>C",
"hgvs_p": "p.Trp94Arg",
"transcript": "ENST00000892438.1",
"protein_id": "ENSP00000562497.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 147,
"cds_start": 280,
"cds_end": null,
"cds_length": 444,
"cdna_start": 466,
"cdna_end": null,
"cdna_length": 903,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892438.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT2",
"gene_hgnc_id": 8049,
"hgvs_c": "c.280T>C",
"hgvs_p": "p.Trp94Arg",
"transcript": "ENST00000892439.1",
"protein_id": "ENSP00000562498.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 147,
"cds_start": 280,
"cds_end": null,
"cds_length": 444,
"cdna_start": 572,
"cdna_end": null,
"cdna_length": 1009,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892439.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT2",
"gene_hgnc_id": 8049,
"hgvs_c": "c.280T>C",
"hgvs_p": "p.Trp94Arg",
"transcript": "ENST00000892440.1",
"protein_id": "ENSP00000562499.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 147,
"cds_start": 280,
"cds_end": null,
"cds_length": 444,
"cdna_start": 1415,
"cdna_end": null,
"cdna_length": 1836,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892440.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT2",
"gene_hgnc_id": 8049,
"hgvs_c": "c.280T>C",
"hgvs_p": "p.Trp94Arg",
"transcript": "ENST00000892441.1",
"protein_id": "ENSP00000562500.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 147,
"cds_start": 280,
"cds_end": null,
"cds_length": 444,
"cdna_start": 839,
"cdna_end": null,
"cdna_length": 1273,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892441.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT2",
"gene_hgnc_id": 8049,
"hgvs_c": "c.280T>C",
"hgvs_p": "p.Trp94Arg",
"transcript": "ENST00000892442.1",
"protein_id": "ENSP00000562501.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 147,
"cds_start": 280,
"cds_end": null,
"cds_length": 444,
"cdna_start": 631,
"cdna_end": null,
"cdna_length": 1052,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892442.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT2",
"gene_hgnc_id": 8049,
"hgvs_c": "c.280T>C",
"hgvs_p": "p.Trp94Arg",
"transcript": "ENST00000892443.1",
"protein_id": "ENSP00000562502.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 147,
"cds_start": 280,
"cds_end": null,
"cds_length": 444,
"cdna_start": 548,
"cdna_end": null,
"cdna_length": 971,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892443.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT2",
"gene_hgnc_id": 8049,
"hgvs_c": "c.280T>C",
"hgvs_p": "p.Trp94Arg",
"transcript": "ENST00000892444.1",
"protein_id": "ENSP00000562503.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 147,
"cds_start": 280,
"cds_end": null,
"cds_length": 444,
"cdna_start": 1431,
"cdna_end": null,
"cdna_length": 1865,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892444.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT2",
"gene_hgnc_id": 8049,
"hgvs_c": "c.280T>C",
"hgvs_p": "p.Trp94Arg",
"transcript": "ENST00000892445.1",
"protein_id": "ENSP00000562504.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 147,
"cds_start": 280,
"cds_end": null,
"cds_length": 444,
"cdna_start": 409,
"cdna_end": null,
"cdna_length": 830,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892445.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT2",
"gene_hgnc_id": 8049,
"hgvs_c": "c.280T>C",
"hgvs_p": "p.Trp94Arg",
"transcript": "ENST00000892446.1",
"protein_id": "ENSP00000562505.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 147,
"cds_start": 280,
"cds_end": null,
"cds_length": 444,
"cdna_start": 806,
"cdna_end": null,
"cdna_length": 1240,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892446.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT2",
"gene_hgnc_id": 8049,
"hgvs_c": "c.280T>C",
"hgvs_p": "p.Trp94Arg",
"transcript": "ENST00000929626.1",
"protein_id": "ENSP00000599685.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 147,
"cds_start": 280,
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"cds_length": 444,
"cdna_start": 418,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929626.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT2",
"gene_hgnc_id": 8049,
"hgvs_c": "c.280T>C",
"hgvs_p": "p.Trp94Arg",
"transcript": "ENST00000929627.1",
"protein_id": "ENSP00000599686.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
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"cds_start": 280,
"cds_end": null,
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"cdna_start": 630,
"cdna_end": null,
"cdna_length": 1061,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929627.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT2",
"gene_hgnc_id": 8049,
"hgvs_c": "c.280T>C",
"hgvs_p": "p.Trp94Arg",
"transcript": "ENST00000929628.1",
"protein_id": "ENSP00000599687.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 147,
"cds_start": 280,
"cds_end": null,
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"cdna_start": 515,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929628.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT2",
"gene_hgnc_id": 8049,
"hgvs_c": "c.280T>C",
"hgvs_p": "p.Trp94Arg",
"transcript": "ENST00000969606.1",
"protein_id": "ENSP00000639665.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 147,
"cds_start": 280,
"cds_end": null,
"cds_length": 444,
"cdna_start": 648,
"cdna_end": null,
"cdna_length": 1067,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969606.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUDT2",
"gene_hgnc_id": 8049,
"hgvs_c": "c.280T>C",
"hgvs_p": "p.Trp94Arg",
"transcript": "ENST00000969607.1",
"protein_id": "ENSP00000639666.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 147,
"cds_start": 280,
"cds_end": null,
"cds_length": 444,
"cdna_start": 367,
"cdna_end": null,
"cdna_length": 786,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969607.1"
}
],
"gene_symbol": "NUDT2",
"gene_hgnc_id": 8049,
"dbsnp": "rs771745920",
"frequency_reference_population": 0.000011166378,
"hom_count_reference_population": 0,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.0000102749,
"gnomad_genomes_af": 0.0000197223,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9335949420928955,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.596,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.901,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.14,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.068,
"phylop100way_prediction": "Uncertain_significance",
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001161.5",
"gene_symbol": "NUDT2",
"hgnc_id": 8049,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.280T>C",
"hgvs_p": "p.Trp94Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}