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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: 18-13731609-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=13731609&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 13731609,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000383314.7",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNMT",
"gene_hgnc_id": 10075,
"hgvs_c": "c.92A>G",
"hgvs_p": "p.Asn31Ser",
"transcript": "NM_003799.3",
"protein_id": "NP_003790.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 476,
"cds_start": 92,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 320,
"cdna_end": null,
"cdna_length": 6236,
"mane_select": "ENST00000383314.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNMT",
"gene_hgnc_id": 10075,
"hgvs_c": "c.92A>G",
"hgvs_p": "p.Asn31Ser",
"transcript": "ENST00000383314.7",
"protein_id": "ENSP00000372804.2",
"transcript_support_level": 1,
"aa_start": 31,
"aa_end": null,
"aa_length": 476,
"cds_start": 92,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 320,
"cdna_end": null,
"cdna_length": 6236,
"mane_select": "NM_003799.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNMT",
"gene_hgnc_id": 10075,
"hgvs_c": "c.92A>G",
"hgvs_p": "p.Asn31Ser",
"transcript": "ENST00000543302.6",
"protein_id": "ENSP00000446426.1",
"transcript_support_level": 1,
"aa_start": 31,
"aa_end": null,
"aa_length": 476,
"cds_start": 92,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 204,
"cdna_end": null,
"cdna_length": 1849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNMT",
"gene_hgnc_id": 10075,
"hgvs_c": "c.92A>G",
"hgvs_p": "p.Asn31Ser",
"transcript": "ENST00000589866.5",
"protein_id": "ENSP00000466252.1",
"transcript_support_level": 1,
"aa_start": 31,
"aa_end": null,
"aa_length": 476,
"cds_start": 92,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 452,
"cdna_end": null,
"cdna_length": 1879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNMT",
"gene_hgnc_id": 10075,
"hgvs_c": "c.92A>G",
"hgvs_p": "p.Asn31Ser",
"transcript": "NM_001308263.2",
"protein_id": "NP_001295192.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 504,
"cds_start": 92,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 320,
"cdna_end": null,
"cdna_length": 4139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNMT",
"gene_hgnc_id": 10075,
"hgvs_c": "c.92A>G",
"hgvs_p": "p.Asn31Ser",
"transcript": "NM_001378134.1",
"protein_id": "NP_001365063.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 504,
"cds_start": 92,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 191,
"cdna_end": null,
"cdna_length": 4010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNMT",
"gene_hgnc_id": 10075,
"hgvs_c": "c.92A>G",
"hgvs_p": "p.Asn31Ser",
"transcript": "ENST00000592764.5",
"protein_id": "ENSP00000466111.1",
"transcript_support_level": 2,
"aa_start": 31,
"aa_end": null,
"aa_length": 504,
"cds_start": 92,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 289,
"cdna_end": null,
"cdna_length": 4108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNMT",
"gene_hgnc_id": 10075,
"hgvs_c": "c.92A>G",
"hgvs_p": "p.Asn31Ser",
"transcript": "NM_001378135.1",
"protein_id": "NP_001365064.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 476,
"cds_start": 92,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 191,
"cdna_end": null,
"cdna_length": 6107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNMT",
"gene_hgnc_id": 10075,
"hgvs_c": "c.92A>G",
"hgvs_p": "p.Asn31Ser",
"transcript": "ENST00000262173.7",
"protein_id": "ENSP00000262173.3",
"transcript_support_level": 2,
"aa_start": 31,
"aa_end": null,
"aa_length": 476,
"cds_start": 92,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 136,
"cdna_end": null,
"cdna_length": 6051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"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": "RNMT",
"gene_hgnc_id": 10075,
"hgvs_c": "c.92A>G",
"hgvs_p": "p.Asn31Ser",
"transcript": "ENST00000591746.1",
"protein_id": "ENSP00000467475.1",
"transcript_support_level": 3,
"aa_start": 31,
"aa_end": null,
"aa_length": 100,
"cds_start": 92,
"cds_end": null,
"cds_length": 304,
"cdna_start": 360,
"cdna_end": null,
"cdna_length": 572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNMT",
"gene_hgnc_id": 10075,
"hgvs_c": "c.92A>G",
"hgvs_p": "p.Asn31Ser",
"transcript": "XM_011525749.3",
"protein_id": "XP_011524051.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 512,
"cds_start": 92,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 320,
"cdna_end": null,
"cdna_length": 8964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNMT",
"gene_hgnc_id": 10075,
"hgvs_c": "c.92A>G",
"hgvs_p": "p.Asn31Ser",
"transcript": "XM_011525750.3",
"protein_id": "XP_011524052.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 512,
"cds_start": 92,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 4479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNMT",
"gene_hgnc_id": 10075,
"hgvs_c": "c.92A>G",
"hgvs_p": "p.Asn31Ser",
"transcript": "XM_011525751.2",
"protein_id": "XP_011524053.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 512,
"cds_start": 92,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 191,
"cdna_end": null,
"cdna_length": 8835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNMT",
"gene_hgnc_id": 10075,
"hgvs_c": "c.92A>G",
"hgvs_p": "p.Asn31Ser",
"transcript": "XM_047437907.1",
"protein_id": "XP_047293863.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 504,
"cds_start": 92,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 4275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNMT",
"gene_hgnc_id": 10075,
"hgvs_c": "c.92A>G",
"hgvs_p": "p.Asn31Ser",
"transcript": "XM_047437908.1",
"protein_id": "XP_047293864.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 476,
"cds_start": 92,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 6372,
"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": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNMT",
"gene_hgnc_id": 10075,
"hgvs_c": "n.320A>G",
"hgvs_p": null,
"transcript": "NR_165427.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4406,
"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": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RNMT",
"gene_hgnc_id": 10075,
"hgvs_c": "c.-118+854A>G",
"hgvs_p": null,
"transcript": "NM_001378132.1",
"protein_id": "NP_001365061.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 298,
"cds_start": -4,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5777,
"mane_select": null,
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RNMT",
"gene_hgnc_id": 10075,
"hgvs_c": "n.-117-2855A>G",
"hgvs_p": null,
"transcript": "ENST00000588457.5",
"protein_id": "ENSP00000467171.1",
"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": 1612,
"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": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RNMT",
"gene_hgnc_id": 10075,
"hgvs_c": "c.-118+854A>G",
"hgvs_p": null,
"transcript": "XM_011525753.3",
"protein_id": "XP_011524055.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 334,
"cds_start": -4,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RNMT",
"gene_hgnc_id": 10075,
"dbsnp": "rs114951540",
"frequency_reference_population": 0.0000030979663,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000205251,
"gnomad_genomes_af": 0.0000131285,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.02083265781402588,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.02,
"revel_prediction": "Benign",
"alphamissense_score": 0.054,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.78,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.386,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000383314.7",
"gene_symbol": "RNMT",
"hgnc_id": 10075,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.92A>G",
"hgvs_p": "p.Asn31Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}