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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: X-16841740-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=16841740&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 16841740,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_018360.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXLNG",
"gene_hgnc_id": 18578,
"hgvs_c": "c.1561G>C",
"hgvs_p": "p.Ala521Pro",
"transcript": "NM_018360.3",
"protein_id": "NP_060830.2",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 528,
"cds_start": 1561,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380122.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018360.3"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXLNG",
"gene_hgnc_id": 18578,
"hgvs_c": "c.1561G>C",
"hgvs_p": "p.Ala521Pro",
"transcript": "ENST00000380122.10",
"protein_id": "ENSP00000369465.5",
"transcript_support_level": 1,
"aa_start": 521,
"aa_end": null,
"aa_length": 528,
"cds_start": 1561,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018360.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380122.10"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXLNG",
"gene_hgnc_id": 18578,
"hgvs_c": "c.1165G>C",
"hgvs_p": "p.Ala389Pro",
"transcript": "ENST00000398155.4",
"protein_id": "ENSP00000381222.4",
"transcript_support_level": 1,
"aa_start": 389,
"aa_end": null,
"aa_length": 396,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398155.4"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXLNG",
"gene_hgnc_id": 18578,
"hgvs_c": "c.1546G>C",
"hgvs_p": "p.Ala516Pro",
"transcript": "ENST00000919097.1",
"protein_id": "ENSP00000589156.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 523,
"cds_start": 1546,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919097.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXLNG",
"gene_hgnc_id": 18578,
"hgvs_c": "c.1495G>C",
"hgvs_p": "p.Ala499Pro",
"transcript": "ENST00000876568.1",
"protein_id": "ENSP00000546627.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 506,
"cds_start": 1495,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876568.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXLNG",
"gene_hgnc_id": 18578,
"hgvs_c": "c.1465G>C",
"hgvs_p": "p.Ala489Pro",
"transcript": "ENST00000919098.1",
"protein_id": "ENSP00000589157.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 496,
"cds_start": 1465,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919098.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXLNG",
"gene_hgnc_id": 18578,
"hgvs_c": "c.1390G>C",
"hgvs_p": "p.Ala464Pro",
"transcript": "ENST00000941919.1",
"protein_id": "ENSP00000611978.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 471,
"cds_start": 1390,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941919.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXLNG",
"gene_hgnc_id": 18578,
"hgvs_c": "c.1195G>C",
"hgvs_p": "p.Ala399Pro",
"transcript": "ENST00000919096.1",
"protein_id": "ENSP00000589155.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 406,
"cds_start": 1195,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919096.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXLNG",
"gene_hgnc_id": 18578,
"hgvs_c": "c.1165G>C",
"hgvs_p": "p.Ala389Pro",
"transcript": "NM_001168683.2",
"protein_id": "NP_001162154.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 396,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168683.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXLNG",
"gene_hgnc_id": 18578,
"hgvs_c": "c.1444G>C",
"hgvs_p": "p.Ala482Pro",
"transcript": "XM_024452400.2",
"protein_id": "XP_024308168.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 489,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452400.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXLNG",
"gene_hgnc_id": 18578,
"hgvs_c": "c.946G>C",
"hgvs_p": "p.Ala316Pro",
"transcript": "XM_017029631.2",
"protein_id": "XP_016885120.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 946,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029631.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.*8-2179C>G",
"hgvs_p": null,
"transcript": "ENST00000919334.1",
"protein_id": "ENSP00000589393.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 425,
"cds_start": null,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919334.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.*8-2350C>G",
"hgvs_p": null,
"transcript": "ENST00000425696.5",
"protein_id": "ENSP00000415747.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 85,
"cds_start": null,
"cds_end": null,
"cds_length": 258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425696.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXLNG",
"gene_hgnc_id": 18578,
"hgvs_c": "n.452G>C",
"hgvs_p": null,
"transcript": "ENST00000485153.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000485153.1"
}
],
"gene_symbol": "TXLNG",
"gene_hgnc_id": 18578,
"dbsnp": "rs761862450",
"frequency_reference_population": 0.0000045583465,
"hom_count_reference_population": 1,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000455835,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05126890540122986,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.044,
"revel_prediction": "Benign",
"alphamissense_score": 0.0718,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.718,
"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": "NM_018360.3",
"gene_symbol": "TXLNG",
"hgnc_id": 18578,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1561G>C",
"hgvs_p": "p.Ala521Pro"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000919334.1",
"gene_symbol": "RBBP7",
"hgnc_id": 9890,
"effects": [
"intron_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.*8-2179C>G",
"hgvs_p": null
}
],
"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
}