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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: 6-29828550-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=29828550&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 29828550,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000360323.11",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-G",
"gene_hgnc_id": 4964,
"hgvs_c": "c.351C>T",
"hgvs_p": "p.His117His",
"transcript": "NM_001384290.1",
"protein_id": "NP_001371219.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 338,
"cds_start": 351,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 371,
"cdna_end": null,
"cdna_length": 1319,
"mane_select": "ENST00000360323.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-G",
"gene_hgnc_id": 4964,
"hgvs_c": "c.351C>T",
"hgvs_p": "p.His117His",
"transcript": "ENST00000360323.11",
"protein_id": "ENSP00000353472.6",
"transcript_support_level": 6,
"aa_start": 117,
"aa_end": null,
"aa_length": 338,
"cds_start": 351,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 371,
"cdna_end": null,
"cdna_length": 1319,
"mane_select": "NM_001384290.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-G",
"gene_hgnc_id": 4964,
"hgvs_c": "c.366C>T",
"hgvs_p": "p.His122His",
"transcript": "NM_001363567.2",
"protein_id": "NP_001350496.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 343,
"cds_start": 366,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 438,
"cdna_end": null,
"cdna_length": 1386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-G",
"gene_hgnc_id": 4964,
"hgvs_c": "c.366C>T",
"hgvs_p": "p.His122His",
"transcript": "NM_001384280.1",
"protein_id": "NP_001371209.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 343,
"cds_start": 366,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 1424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-G",
"gene_hgnc_id": 4964,
"hgvs_c": "c.366C>T",
"hgvs_p": "p.His122His",
"transcript": "ENST00000376828.6",
"protein_id": "ENSP00000366024.2",
"transcript_support_level": 6,
"aa_start": 122,
"aa_end": null,
"aa_length": 343,
"cds_start": 366,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 438,
"cdna_end": null,
"cdna_length": 1490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-G",
"gene_hgnc_id": 4964,
"hgvs_c": "c.351C>T",
"hgvs_p": "p.His117His",
"transcript": "NM_002127.6",
"protein_id": "NP_002118.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 338,
"cds_start": 351,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 1489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-G",
"gene_hgnc_id": 4964,
"hgvs_c": "c.366C>T",
"hgvs_p": "p.His122His",
"transcript": "XM_024446420.2",
"protein_id": "XP_024302188.2",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 343,
"cds_start": 366,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 438,
"cdna_end": null,
"cdna_length": 1149,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-G",
"gene_hgnc_id": 4964,
"hgvs_c": "n.351C>T",
"hgvs_p": null,
"transcript": "ENST00000478355.5",
"protein_id": null,
"transcript_support_level": 6,
"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": 1525,
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HLA-G",
"gene_hgnc_id": 4964,
"hgvs_c": "c.343+234C>T",
"hgvs_p": null,
"transcript": "ENST00000376818.7",
"protein_id": "ENSP00000366014.3",
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": 246,
"cds_start": -4,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1127,
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HLA-G",
"gene_hgnc_id": 4964,
"hgvs_c": "c.343+234C>T",
"hgvs_p": null,
"transcript": "ENST00000376815.3",
"protein_id": "ENSP00000366011.3",
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": 154,
"cds_start": -4,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 851,
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HLA-G",
"gene_hgnc_id": 4964,
"hgvs_c": "n.522-67C>T",
"hgvs_p": null,
"transcript": "ENST00000428701.6",
"protein_id": null,
"transcript_support_level": 6,
"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": 1032,
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HLA-G",
"gene_hgnc_id": 4964,
"hgvs_c": "n.343+234C>T",
"hgvs_p": null,
"transcript": "ENST00000478519.5",
"protein_id": "ENSP00000436375.1",
"transcript_support_level": 6,
"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": 1175,
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HLA-G",
"gene_hgnc_id": 4964,
"hgvs_c": "c.358+234C>T",
"hgvs_p": null,
"transcript": "XM_017010818.2",
"protein_id": "XP_016866307.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 251,
"cds_start": -4,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 899,
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HLA-G",
"gene_hgnc_id": 4964,
"hgvs_c": "c.358+234C>T",
"hgvs_p": null,
"transcript": "XM_047418722.1",
"protein_id": "XP_047274678.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 251,
"cds_start": -4,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HCG4P8",
"gene_hgnc_id": 22927,
"hgvs_c": "n.-186G>A",
"hgvs_p": null,
"transcript": "ENST00000443049.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-F-AS1",
"gene_hgnc_id": 26645,
"hgvs_c": "n.-54G>A",
"hgvs_p": null,
"transcript": "ENST00000849927.1",
"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": 1588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HLA-G",
"gene_hgnc_id": 4964,
"dbsnp": "rs1130356",
"frequency_reference_population": 0.31086105,
"hom_count_reference_population": 80020,
"allele_count_reference_population": 501154,
"gnomad_exomes_af": 0.3136,
"gnomad_genomes_af": 0.284552,
"gnomad_exomes_ac": 457897,
"gnomad_genomes_ac": 43257,
"gnomad_exomes_homalt": 73743,
"gnomad_genomes_homalt": 6277,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6399999856948853,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.322,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000360323.11",
"gene_symbol": "HLA-G",
"hgnc_id": 4964,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.351C>T",
"hgvs_p": "p.His117His"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000849927.1",
"gene_symbol": "HLA-F-AS1",
"hgnc_id": 26645,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-54G>A",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000443049.1",
"gene_symbol": "HCG4P8",
"hgnc_id": 22927,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-186G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}