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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: 2-191031079-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=191031079&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 191031079,
"ref": "G",
"alt": "A",
"effect": "stop_gained,splice_region_variant",
"transcript": "NM_003151.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT4",
"gene_hgnc_id": 11365,
"hgvs_c": "c.2113C>T",
"hgvs_p": "p.Arg705*",
"transcript": "NM_003151.4",
"protein_id": "NP_003142.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 748,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 2162,
"cdna_end": null,
"cdna_length": 2560,
"mane_select": "ENST00000392320.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT4",
"gene_hgnc_id": 11365,
"hgvs_c": "c.2113C>T",
"hgvs_p": "p.Arg705*",
"transcript": "ENST00000392320.7",
"protein_id": "ENSP00000376134.2",
"transcript_support_level": 1,
"aa_start": 705,
"aa_end": null,
"aa_length": 748,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 2162,
"cdna_end": null,
"cdna_length": 2560,
"mane_select": "NM_003151.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT4",
"gene_hgnc_id": 11365,
"hgvs_c": "c.2113C>T",
"hgvs_p": "p.Arg705*",
"transcript": "ENST00000358470.8",
"protein_id": "ENSP00000351255.4",
"transcript_support_level": 1,
"aa_start": 705,
"aa_end": null,
"aa_length": 748,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 2371,
"cdna_end": null,
"cdna_length": 2769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT4",
"gene_hgnc_id": 11365,
"hgvs_c": "c.2113C>T",
"hgvs_p": "p.Arg705*",
"transcript": "ENST00000450994.2",
"protein_id": "ENSP00000412397.2",
"transcript_support_level": 1,
"aa_start": 705,
"aa_end": null,
"aa_length": 748,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 2445,
"cdna_end": null,
"cdna_length": 2843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT4",
"gene_hgnc_id": 11365,
"hgvs_c": "c.2287C>T",
"hgvs_p": "p.Arg763*",
"transcript": "ENST00000714287.1",
"protein_id": "ENSP00000519567.1",
"transcript_support_level": null,
"aa_start": 763,
"aa_end": null,
"aa_length": 806,
"cds_start": 2287,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 3124,
"cdna_end": null,
"cdna_length": 3520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT4",
"gene_hgnc_id": 11365,
"hgvs_c": "c.2113C>T",
"hgvs_p": "p.Arg705*",
"transcript": "NM_001243835.2",
"protein_id": "NP_001230764.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 748,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 2377,
"cdna_end": null,
"cdna_length": 2775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT4",
"gene_hgnc_id": 11365,
"hgvs_c": "c.2113C>T",
"hgvs_p": "p.Arg705*",
"transcript": "ENST00000432798.2",
"protein_id": "ENSP00000414322.2",
"transcript_support_level": 5,
"aa_start": 705,
"aa_end": null,
"aa_length": 748,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 2511,
"cdna_end": null,
"cdna_length": 2909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT4",
"gene_hgnc_id": 11365,
"hgvs_c": "c.2032C>T",
"hgvs_p": "p.Arg678*",
"transcript": "ENST00000413064.6",
"protein_id": "ENSP00000403238.2",
"transcript_support_level": 5,
"aa_start": 678,
"aa_end": null,
"aa_length": 721,
"cds_start": 2032,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 2289,
"cdna_end": null,
"cdna_length": 2687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT4",
"gene_hgnc_id": 11365,
"hgvs_c": "c.2113C>T",
"hgvs_p": "p.Arg705*",
"transcript": "XM_006712719.4",
"protein_id": "XP_006712782.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 748,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 2458,
"cdna_end": null,
"cdna_length": 2856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT4",
"gene_hgnc_id": 11365,
"hgvs_c": "c.2113C>T",
"hgvs_p": "p.Arg705*",
"transcript": "XM_047445603.1",
"protein_id": "XP_047301559.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 748,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 2459,
"cdna_end": null,
"cdna_length": 2857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT4",
"gene_hgnc_id": 11365,
"hgvs_c": "c.2113C>T",
"hgvs_p": "p.Arg705*",
"transcript": "XM_047445604.1",
"protein_id": "XP_047301560.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 748,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 2445,
"cdna_end": null,
"cdna_length": 2843,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT4-AS1",
"gene_hgnc_id": 55764,
"hgvs_c": "n.329G>A",
"hgvs_p": null,
"transcript": "ENST00000429796.1",
"protein_id": null,
"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": 490,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT4-AS1",
"gene_hgnc_id": 55764,
"hgvs_c": "n.225G>A",
"hgvs_p": null,
"transcript": "ENST00000456176.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT4",
"gene_hgnc_id": 11365,
"hgvs_c": "n.*767C>T",
"hgvs_p": null,
"transcript": "ENST00000714286.1",
"protein_id": "ENSP00000519566.1",
"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": 3677,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT4-AS1",
"gene_hgnc_id": 55764,
"hgvs_c": "n.225G>A",
"hgvs_p": null,
"transcript": "NR_136318.1",
"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": 386,
"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": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT4",
"gene_hgnc_id": 11365,
"hgvs_c": "n.*767C>T",
"hgvs_p": null,
"transcript": "ENST00000714286.1",
"protein_id": "ENSP00000519566.1",
"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": 3677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT4",
"gene_hgnc_id": 11365,
"hgvs_c": "n.*129C>T",
"hgvs_p": null,
"transcript": "ENST00000463951.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "STAT4",
"gene_hgnc_id": 11365,
"dbsnp": "rs1449832035",
"frequency_reference_population": 0.0000020526518,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205265,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5199999809265137,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.8659999966621399,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.52,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.058,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.989819457700743,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003151.4",
"gene_symbol": "STAT4",
"hgnc_id": 11365,
"effects": [
"stop_gained",
"splice_region_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.2113C>T",
"hgvs_p": "p.Arg705*"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000429796.1",
"gene_symbol": "STAT4-AS1",
"hgnc_id": 55764,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.329G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}