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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: 20-1551714-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=1551714&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 1551714,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001410802.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRPD",
"gene_hgnc_id": 16248,
"hgvs_c": "c.398G>A",
"hgvs_p": "p.Arg133Gln",
"transcript": "NM_178460.3",
"protein_id": "NP_848555.2",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 197,
"cds_start": 398,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000381623.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178460.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRPD",
"gene_hgnc_id": 16248,
"hgvs_c": "c.398G>A",
"hgvs_p": "p.Arg133Gln",
"transcript": "ENST00000381623.4",
"protein_id": "ENSP00000371036.3",
"transcript_support_level": 1,
"aa_start": 133,
"aa_end": null,
"aa_length": 197,
"cds_start": 398,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_178460.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381623.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRPD",
"gene_hgnc_id": 16248,
"hgvs_c": "c.398G>A",
"hgvs_p": "p.Arg133Gln",
"transcript": "NM_001410802.1",
"protein_id": "NP_001397731.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 198,
"cds_start": 398,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410802.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRPD",
"gene_hgnc_id": 16248,
"hgvs_c": "c.398G>A",
"hgvs_p": "p.Arg133Gln",
"transcript": "ENST00000381621.5",
"protein_id": "ENSP00000371034.1",
"transcript_support_level": 3,
"aa_start": 133,
"aa_end": null,
"aa_length": 198,
"cds_start": 398,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381621.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRPD",
"gene_hgnc_id": 16248,
"hgvs_c": "c.398G>A",
"hgvs_p": "p.Arg133Gln",
"transcript": "XM_047439883.1",
"protein_id": "XP_047295839.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 203,
"cds_start": 398,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439883.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRPD",
"gene_hgnc_id": 16248,
"hgvs_c": "c.398G>A",
"hgvs_p": "p.Arg133Gln",
"transcript": "XM_047439885.1",
"protein_id": "XP_047295841.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 188,
"cds_start": 398,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439885.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRPD",
"gene_hgnc_id": 16248,
"hgvs_c": "c.398G>A",
"hgvs_p": "p.Arg133Gln",
"transcript": "XM_047439886.1",
"protein_id": "XP_047295842.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 170,
"cds_start": 398,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439886.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRPD",
"gene_hgnc_id": 16248,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Arg97Gln",
"transcript": "XM_047439887.1",
"protein_id": "XP_047295843.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 167,
"cds_start": 290,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439887.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRPD",
"gene_hgnc_id": 16248,
"hgvs_c": "c.398G>A",
"hgvs_p": "p.Arg133Gln",
"transcript": "XM_047439888.1",
"protein_id": "XP_047295844.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 156,
"cds_start": 398,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439888.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000260861",
"gene_hgnc_id": null,
"hgvs_c": "c.369+5867G>A",
"hgvs_p": null,
"transcript": "ENST00000566961.2",
"protein_id": "ENSP00000457551.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 139,
"cds_start": null,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566961.2"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SIRPD",
"gene_hgnc_id": 16248,
"hgvs_c": "c.67+157G>A",
"hgvs_p": null,
"transcript": "ENST00000429387.5",
"protein_id": "ENSP00000410072.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 79,
"cds_start": null,
"cds_end": null,
"cds_length": 240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429387.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "ENSG00000242324",
"gene_hgnc_id": null,
"hgvs_c": "n.779G>A",
"hgvs_p": null,
"transcript": "ENST00000453770.1",
"protein_id": null,
"transcript_support_level": 6,
"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": "unprocessed_pseudogene",
"feature": "ENST00000453770.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"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": "ENSG00000260861",
"gene_hgnc_id": null,
"hgvs_c": "c.*250G>A",
"hgvs_p": null,
"transcript": "ENST00000564763.1",
"protein_id": "ENSP00000457944.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 172,
"cds_start": null,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564763.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "ENSG00000260861",
"gene_hgnc_id": null,
"hgvs_c": "c.*224G>A",
"hgvs_p": null,
"transcript": "ENST00000567028.5",
"protein_id": "ENSP00000454437.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 176,
"cds_start": null,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567028.5"
}
],
"gene_symbol": "SIRPD",
"gene_hgnc_id": 16248,
"dbsnp": "rs141059543",
"frequency_reference_population": 0.000064460146,
"hom_count_reference_population": 0,
"allele_count_reference_population": 104,
"gnomad_exomes_af": 0.0000663807,
"gnomad_genomes_af": 0.0000460127,
"gnomad_exomes_ac": 97,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05509120225906372,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.41999998688697815,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.038,
"revel_prediction": "Benign",
"alphamissense_score": 0.0699,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.72,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -8.476,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.42,
"spliceai_max_prediction": "Uncertain_significance",
"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": "BP6_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001410802.1",
"gene_symbol": "SIRPD",
"hgnc_id": 16248,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.398G>A",
"hgvs_p": "p.Arg133Gln"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000566961.2",
"gene_symbol": "ENSG00000260861",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.369+5867G>A",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000453770.1",
"gene_symbol": "ENSG00000242324",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.779G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}