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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: 19-51142411-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=51142411&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 51142411,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_014385.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC7",
"gene_hgnc_id": 10876,
"hgvs_c": "c.42G>C",
"hgvs_p": "p.Glu14Asp",
"transcript": "NM_014385.4",
"protein_id": "NP_055200.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 467,
"cds_start": 42,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000317643.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014385.4"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC7",
"gene_hgnc_id": 10876,
"hgvs_c": "c.42G>C",
"hgvs_p": "p.Glu14Asp",
"transcript": "ENST00000317643.10",
"protein_id": "ENSP00000323328.6",
"transcript_support_level": 1,
"aa_start": 14,
"aa_end": null,
"aa_length": 467,
"cds_start": 42,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014385.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317643.10"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC7",
"gene_hgnc_id": 10876,
"hgvs_c": "c.42G>C",
"hgvs_p": "p.Glu14Asp",
"transcript": "ENST00000305628.7",
"protein_id": "ENSP00000306757.6",
"transcript_support_level": 1,
"aa_start": 14,
"aa_end": null,
"aa_length": 374,
"cds_start": 42,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000305628.7"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC7",
"gene_hgnc_id": 10876,
"hgvs_c": "c.42G>C",
"hgvs_p": "p.Glu14Asp",
"transcript": "ENST00000600577.1",
"protein_id": "ENSP00000472529.1",
"transcript_support_level": 1,
"aa_start": 14,
"aa_end": null,
"aa_length": 145,
"cds_start": 42,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000600577.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC7",
"gene_hgnc_id": 10876,
"hgvs_c": "n.42G>C",
"hgvs_p": null,
"transcript": "ENST00000536156.5",
"protein_id": "ENSP00000437609.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000536156.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC7",
"gene_hgnc_id": 10876,
"hgvs_c": "c.42G>C",
"hgvs_p": "p.Glu14Asp",
"transcript": "ENST00000880915.1",
"protein_id": "ENSP00000550974.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 434,
"cds_start": 42,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880915.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC7",
"gene_hgnc_id": 10876,
"hgvs_c": "c.42G>C",
"hgvs_p": "p.Glu14Asp",
"transcript": "ENST00000965026.1",
"protein_id": "ENSP00000635085.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 378,
"cds_start": 42,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965026.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC7",
"gene_hgnc_id": 10876,
"hgvs_c": "c.42G>C",
"hgvs_p": "p.Glu14Asp",
"transcript": "NM_016543.4",
"protein_id": "NP_057627.2",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 374,
"cds_start": 42,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016543.4"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC7",
"gene_hgnc_id": 10876,
"hgvs_c": "c.42G>C",
"hgvs_p": "p.Glu14Asp",
"transcript": "ENST00000880914.1",
"protein_id": "ENSP00000550973.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 358,
"cds_start": 42,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880914.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC7",
"gene_hgnc_id": 10876,
"hgvs_c": "c.42G>C",
"hgvs_p": "p.Glu14Asp",
"transcript": "ENST00000880912.1",
"protein_id": "ENSP00000550971.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 349,
"cds_start": 42,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880912.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC7",
"gene_hgnc_id": 10876,
"hgvs_c": "c.42G>C",
"hgvs_p": "p.Glu14Asp",
"transcript": "ENST00000880913.1",
"protein_id": "ENSP00000550972.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 269,
"cds_start": 42,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880913.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC7",
"gene_hgnc_id": 10876,
"hgvs_c": "c.42G>C",
"hgvs_p": "p.Glu14Asp",
"transcript": "ENST00000965025.1",
"protein_id": "ENSP00000635084.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 244,
"cds_start": 42,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965025.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC7",
"gene_hgnc_id": 10876,
"hgvs_c": "c.42G>C",
"hgvs_p": "p.Glu14Asp",
"transcript": "ENST00000601682.1",
"protein_id": "ENSP00000469626.1",
"transcript_support_level": 3,
"aa_start": 14,
"aa_end": null,
"aa_length": 184,
"cds_start": 42,
"cds_end": null,
"cds_length": 556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601682.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC7",
"gene_hgnc_id": 10876,
"hgvs_c": "c.42G>C",
"hgvs_p": "p.Glu14Asp",
"transcript": "NM_001277201.2",
"protein_id": "NP_001264130.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 145,
"cds_start": 42,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001277201.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC7",
"gene_hgnc_id": 10876,
"hgvs_c": "c.42G>C",
"hgvs_p": "p.Glu14Asp",
"transcript": "XM_011526721.4",
"protein_id": "XP_011525023.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 358,
"cds_start": 42,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526721.4"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC7",
"gene_hgnc_id": 10876,
"hgvs_c": "c.42G>C",
"hgvs_p": "p.Glu14Asp",
"transcript": "XM_047438604.1",
"protein_id": "XP_047294560.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 343,
"cds_start": 42,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438604.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC7",
"gene_hgnc_id": 10876,
"hgvs_c": "c.42G>C",
"hgvs_p": "p.Glu14Asp",
"transcript": "XM_047438605.1",
"protein_id": "XP_047294561.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 215,
"cds_start": 42,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438605.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000268595",
"gene_hgnc_id": null,
"hgvs_c": "n.555+22810C>G",
"hgvs_p": null,
"transcript": "ENST00000819413.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000819413.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000268595",
"gene_hgnc_id": null,
"hgvs_c": "n.556-9006C>G",
"hgvs_p": null,
"transcript": "ENST00000819414.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000819414.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC7",
"gene_hgnc_id": 10876,
"hgvs_c": "n.-48G>C",
"hgvs_p": null,
"transcript": "NR_102350.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_102350.2"
}
],
"gene_symbol": "SIGLEC7",
"gene_hgnc_id": 10876,
"dbsnp": "rs2092073929",
"frequency_reference_population": 0.000026679145,
"hom_count_reference_population": 0,
"allele_count_reference_population": 39,
"gnomad_exomes_af": 0.0000266791,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 39,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1177322268486023,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.005,
"revel_prediction": "Benign",
"alphamissense_score": 0.1607,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.388,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014385.4",
"gene_symbol": "SIGLEC7",
"hgnc_id": 10876,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.42G>C",
"hgvs_p": "p.Glu14Asp"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000819413.1",
"gene_symbol": "ENSG00000268595",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.555+22810C>G",
"hgvs_p": null
}
],
"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
}