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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-150770349-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=150770349&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 150770349,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_031462.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99L2",
"gene_hgnc_id": 18237,
"hgvs_c": "c.676G>A",
"hgvs_p": "p.Val226Met",
"transcript": "NM_031462.4",
"protein_id": "NP_113650.2",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 262,
"cds_start": 676,
"cds_end": null,
"cds_length": 789,
"cdna_start": 756,
"cdna_end": null,
"cdna_length": 3567,
"mane_select": "ENST00000370377.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99L2",
"gene_hgnc_id": 18237,
"hgvs_c": "c.676G>A",
"hgvs_p": "p.Val226Met",
"transcript": "ENST00000370377.8",
"protein_id": "ENSP00000359403.3",
"transcript_support_level": 1,
"aa_start": 226,
"aa_end": null,
"aa_length": 262,
"cds_start": 676,
"cds_end": null,
"cds_length": 789,
"cdna_start": 756,
"cdna_end": null,
"cdna_length": 3567,
"mane_select": "NM_031462.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99L2",
"gene_hgnc_id": 18237,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Val177Met",
"transcript": "ENST00000466436.5",
"protein_id": "ENSP00000417697.1",
"transcript_support_level": 1,
"aa_start": 177,
"aa_end": null,
"aa_length": 213,
"cds_start": 529,
"cds_end": null,
"cds_length": 642,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99L2",
"gene_hgnc_id": 18237,
"hgvs_c": "c.460G>A",
"hgvs_p": "p.Val154Met",
"transcript": "ENST00000355149.8",
"protein_id": "ENSP00000347275.3",
"transcript_support_level": 1,
"aa_start": 154,
"aa_end": null,
"aa_length": 190,
"cds_start": 460,
"cds_end": null,
"cds_length": 573,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 1278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99L2",
"gene_hgnc_id": 18237,
"hgvs_c": "n.*1645G>A",
"hgvs_p": null,
"transcript": "ENST00000346693.8",
"protein_id": "ENSP00000489222.1",
"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": 4935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99L2",
"gene_hgnc_id": 18237,
"hgvs_c": "n.*1645G>A",
"hgvs_p": null,
"transcript": "ENST00000346693.8",
"protein_id": "ENSP00000489222.1",
"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": 4935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99L2",
"gene_hgnc_id": 18237,
"hgvs_c": "c.706G>A",
"hgvs_p": "p.Val236Met",
"transcript": "NM_001242614.2",
"protein_id": "NP_001229543.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 272,
"cds_start": 706,
"cds_end": null,
"cds_length": 819,
"cdna_start": 786,
"cdna_end": null,
"cdna_length": 3597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99L2",
"gene_hgnc_id": 18237,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Val177Met",
"transcript": "NM_134446.4",
"protein_id": "NP_604395.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 213,
"cds_start": 529,
"cds_end": null,
"cds_length": 642,
"cdna_start": 609,
"cdna_end": null,
"cdna_length": 3420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99L2",
"gene_hgnc_id": 18237,
"hgvs_c": "c.460G>A",
"hgvs_p": "p.Val154Met",
"transcript": "NM_134445.4",
"protein_id": "NP_604394.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 190,
"cds_start": 460,
"cds_end": null,
"cds_length": 573,
"cdna_start": 540,
"cdna_end": null,
"cdna_length": 3351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99L2",
"gene_hgnc_id": 18237,
"hgvs_c": "c.457G>A",
"hgvs_p": "p.Val153Met",
"transcript": "NM_001184808.2",
"protein_id": "NP_001171737.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 189,
"cds_start": 457,
"cds_end": null,
"cds_length": 570,
"cdna_start": 537,
"cdna_end": null,
"cdna_length": 3348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99L2",
"gene_hgnc_id": 18237,
"hgvs_c": "c.457G>A",
"hgvs_p": "p.Val153Met",
"transcript": "ENST00000437787.6",
"protein_id": "ENSP00000394858.2",
"transcript_support_level": 2,
"aa_start": 153,
"aa_end": null,
"aa_length": 189,
"cds_start": 457,
"cds_end": null,
"cds_length": 570,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 3493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99L2",
"gene_hgnc_id": 18237,
"hgvs_c": "c.418G>A",
"hgvs_p": "p.Val140Met",
"transcript": "ENST00000634795.1",
"protein_id": "ENSP00000489166.1",
"transcript_support_level": 5,
"aa_start": 140,
"aa_end": null,
"aa_length": 176,
"cds_start": 418,
"cds_end": null,
"cds_length": 531,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99L2",
"gene_hgnc_id": 18237,
"hgvs_c": "c.676G>A",
"hgvs_p": "p.Val226Met",
"transcript": "XM_047442560.1",
"protein_id": "XP_047298516.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 262,
"cds_start": 676,
"cds_end": null,
"cds_length": 789,
"cdna_start": 996,
"cdna_end": null,
"cdna_length": 3807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99L2",
"gene_hgnc_id": 18237,
"hgvs_c": "c.676G>A",
"hgvs_p": "p.Val226Met",
"transcript": "XM_047442561.1",
"protein_id": "XP_047298517.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 262,
"cds_start": 676,
"cds_end": null,
"cds_length": 789,
"cdna_start": 883,
"cdna_end": null,
"cdna_length": 3694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD99L2",
"gene_hgnc_id": 18237,
"hgvs_c": "c.676G>A",
"hgvs_p": "p.Val226Met",
"transcript": "XM_047442562.1",
"protein_id": "XP_047298518.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 262,
"cds_start": 676,
"cds_end": null,
"cds_length": 789,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 3897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CD99L2",
"gene_hgnc_id": 18237,
"dbsnp": "rs782177062",
"frequency_reference_population": 0.000027266666,
"hom_count_reference_population": 12,
"allele_count_reference_population": 33,
"gnomad_exomes_af": 0.0000245933,
"gnomad_genomes_af": 0.0000533775,
"gnomad_exomes_ac": 27,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12375101447105408,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.069,
"revel_prediction": "Benign",
"alphamissense_score": 0.1941,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.844,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_031462.4",
"gene_symbol": "CD99L2",
"hgnc_id": 18237,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.676G>A",
"hgvs_p": "p.Val226Met"
}
],
"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
}