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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: 4-95148783-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=95148783&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 95148783,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000515059.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1B",
"gene_hgnc_id": 1077,
"hgvs_c": "c.1112G>T",
"hgvs_p": "p.Arg371Leu",
"transcript": "NM_001203.3",
"protein_id": "NP_001194.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 502,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1408,
"cdna_end": null,
"cdna_length": 5580,
"mane_select": "ENST00000515059.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1B",
"gene_hgnc_id": 1077,
"hgvs_c": "c.1112G>T",
"hgvs_p": "p.Arg371Leu",
"transcript": "ENST00000515059.6",
"protein_id": "ENSP00000426617.1",
"transcript_support_level": 1,
"aa_start": 371,
"aa_end": null,
"aa_length": 502,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1408,
"cdna_end": null,
"cdna_length": 5580,
"mane_select": "NM_001203.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1B",
"gene_hgnc_id": 1077,
"hgvs_c": "c.1112G>T",
"hgvs_p": "p.Arg371Leu",
"transcript": "ENST00000394931.1",
"protein_id": "ENSP00000378389.1",
"transcript_support_level": 1,
"aa_start": 371,
"aa_end": null,
"aa_length": 502,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1182,
"cdna_end": null,
"cdna_length": 1922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1B",
"gene_hgnc_id": 1077,
"hgvs_c": "c.1112G>T",
"hgvs_p": "p.Arg371Leu",
"transcript": "ENST00000512312.5",
"protein_id": "ENSP00000425444.1",
"transcript_support_level": 1,
"aa_start": 371,
"aa_end": null,
"aa_length": 502,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1282,
"cdna_end": null,
"cdna_length": 1679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1B",
"gene_hgnc_id": 1077,
"hgvs_c": "c.1202G>T",
"hgvs_p": "p.Arg401Leu",
"transcript": "NM_001256793.2",
"protein_id": "NP_001243722.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 532,
"cds_start": 1202,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1225,
"cdna_end": null,
"cdna_length": 5397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1B",
"gene_hgnc_id": 1077,
"hgvs_c": "c.1202G>T",
"hgvs_p": "p.Arg401Leu",
"transcript": "ENST00000440890.7",
"protein_id": "ENSP00000401907.2",
"transcript_support_level": 2,
"aa_start": 401,
"aa_end": null,
"aa_length": 532,
"cds_start": 1202,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1225,
"cdna_end": null,
"cdna_length": 5397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1B",
"gene_hgnc_id": 1077,
"hgvs_c": "c.1112G>T",
"hgvs_p": "p.Arg371Leu",
"transcript": "NM_001256792.2",
"protein_id": "NP_001243721.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 502,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1674,
"cdna_end": null,
"cdna_length": 5846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1B",
"gene_hgnc_id": 1077,
"hgvs_c": "c.1112G>T",
"hgvs_p": "p.Arg371Leu",
"transcript": "NM_001256794.1",
"protein_id": "NP_001243723.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 502,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1266,
"cdna_end": null,
"cdna_length": 5440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1B",
"gene_hgnc_id": 1077,
"hgvs_c": "c.1112G>T",
"hgvs_p": "p.Arg371Leu",
"transcript": "ENST00000264568.8",
"protein_id": "ENSP00000264568.4",
"transcript_support_level": 2,
"aa_start": 371,
"aa_end": null,
"aa_length": 502,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1266,
"cdna_end": null,
"cdna_length": 1807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1B",
"gene_hgnc_id": 1077,
"hgvs_c": "c.1112G>T",
"hgvs_p": "p.Arg371Leu",
"transcript": "ENST00000509540.6",
"protein_id": "ENSP00000421671.1",
"transcript_support_level": 2,
"aa_start": 371,
"aa_end": null,
"aa_length": 502,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1321,
"cdna_end": null,
"cdna_length": 1821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1B",
"gene_hgnc_id": 1077,
"hgvs_c": "c.1112G>T",
"hgvs_p": "p.Arg371Leu",
"transcript": "ENST00000672698.1",
"protein_id": "ENSP00000500035.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 502,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1460,
"cdna_end": null,
"cdna_length": 4541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1B",
"gene_hgnc_id": 1077,
"hgvs_c": "c.1112G>T",
"hgvs_p": "p.Arg371Leu",
"transcript": "XM_011532201.3",
"protein_id": "XP_011530503.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 502,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1313,
"cdna_end": null,
"cdna_length": 5487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1B",
"gene_hgnc_id": 1077,
"hgvs_c": "c.1112G>T",
"hgvs_p": "p.Arg371Leu",
"transcript": "XM_017008558.2",
"protein_id": "XP_016864047.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 502,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1451,
"cdna_end": null,
"cdna_length": 5625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1B",
"gene_hgnc_id": 1077,
"hgvs_c": "c.1112G>T",
"hgvs_p": "p.Arg371Leu",
"transcript": "XM_017008559.2",
"protein_id": "XP_016864048.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 502,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1495,
"cdna_end": null,
"cdna_length": 5669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1B",
"gene_hgnc_id": 1077,
"hgvs_c": "c.1112G>T",
"hgvs_p": "p.Arg371Leu",
"transcript": "XM_017008560.2",
"protein_id": "XP_016864049.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 502,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1424,
"cdna_end": null,
"cdna_length": 5598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1B",
"gene_hgnc_id": 1077,
"hgvs_c": "c.1112G>T",
"hgvs_p": "p.Arg371Leu",
"transcript": "XM_047416091.1",
"protein_id": "XP_047272047.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 502,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1637,
"cdna_end": null,
"cdna_length": 5811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1B",
"gene_hgnc_id": 1077,
"hgvs_c": "c.1112G>T",
"hgvs_p": "p.Arg371Leu",
"transcript": "XM_047416093.1",
"protein_id": "XP_047272049.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 502,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1480,
"cdna_end": null,
"cdna_length": 5654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1B",
"gene_hgnc_id": 1077,
"hgvs_c": "c.1112G>T",
"hgvs_p": "p.Arg371Leu",
"transcript": "XM_047416094.1",
"protein_id": "XP_047272050.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 502,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1360,
"cdna_end": null,
"cdna_length": 5534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1B",
"gene_hgnc_id": 1077,
"hgvs_c": "c.1112G>T",
"hgvs_p": "p.Arg371Leu",
"transcript": "XM_047416095.1",
"protein_id": "XP_047272051.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 502,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 3702,
"cdna_end": null,
"cdna_length": 7876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BMPR1B",
"gene_hgnc_id": 1077,
"dbsnp": "rs34970181",
"frequency_reference_population": 0.000019829517,
"hom_count_reference_population": 0,
"allele_count_reference_population": 32,
"gnomad_exomes_af": 0.0000205235,
"gnomad_genomes_af": 0.0000131562,
"gnomad_exomes_ac": 30,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8234641551971436,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.539,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9703,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.21,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.002,
"phylop100way_prediction": "Pathogenic",
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "PP3,BP6_Very_Strong",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 8,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000515059.6",
"gene_symbol": "BMPR1B",
"hgnc_id": 1077,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,Unknown",
"hgvs_c": "c.1112G>T",
"hgvs_p": "p.Arg371Leu"
}
],
"clinvar_disease": "Acromesomelic dysplasia 3,Brachydactyly,Type A2 brachydactyly",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:1",
"phenotype_combined": "Brachydactyly|Acromesomelic dysplasia 3;Type A2 brachydactyly",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}