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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: 21-46599370-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=46599370&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 46599370,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_006272.3",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "S100B",
"gene_hgnc_id": 10500,
"hgvs_c": "c.272A>T",
"hgvs_p": "p.His91Leu",
"transcript": "NM_006272.3",
"protein_id": "NP_006263.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 92,
"cds_start": 272,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000291700.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006272.3"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "S100B",
"gene_hgnc_id": 10500,
"hgvs_c": "c.272A>T",
"hgvs_p": "p.His91Leu",
"transcript": "ENST00000291700.9",
"protein_id": "ENSP00000291700.4",
"transcript_support_level": 1,
"aa_start": 91,
"aa_end": null,
"aa_length": 92,
"cds_start": 272,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006272.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000291700.9"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "S100B",
"gene_hgnc_id": 10500,
"hgvs_c": "c.272A>T",
"hgvs_p": "p.His91Leu",
"transcript": "ENST00000397648.1",
"protein_id": "ENSP00000380769.1",
"transcript_support_level": 1,
"aa_start": 91,
"aa_end": null,
"aa_length": 92,
"cds_start": 272,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397648.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "S100B",
"gene_hgnc_id": 10500,
"hgvs_c": "c.*81A>T",
"hgvs_p": null,
"transcript": "ENST00000367071.4",
"protein_id": "ENSP00000356038.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 94,
"cds_start": null,
"cds_end": null,
"cds_length": 285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367071.4"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "S100B",
"gene_hgnc_id": 10500,
"hgvs_c": "c.368A>T",
"hgvs_p": "p.His123Leu",
"transcript": "ENST00000877396.1",
"protein_id": "ENSP00000547455.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 124,
"cds_start": 368,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877396.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "S100B",
"gene_hgnc_id": 10500,
"hgvs_c": "c.272A>T",
"hgvs_p": "p.His91Leu",
"transcript": "ENST00000877391.1",
"protein_id": "ENSP00000547450.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 92,
"cds_start": 272,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877391.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "S100B",
"gene_hgnc_id": 10500,
"hgvs_c": "c.272A>T",
"hgvs_p": "p.His91Leu",
"transcript": "ENST00000877392.1",
"protein_id": "ENSP00000547451.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 92,
"cds_start": 272,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877392.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "S100B",
"gene_hgnc_id": 10500,
"hgvs_c": "c.272A>T",
"hgvs_p": "p.His91Leu",
"transcript": "ENST00000877393.1",
"protein_id": "ENSP00000547452.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 92,
"cds_start": 272,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877393.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "S100B",
"gene_hgnc_id": 10500,
"hgvs_c": "c.272A>T",
"hgvs_p": "p.His91Leu",
"transcript": "ENST00000877394.1",
"protein_id": "ENSP00000547453.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 92,
"cds_start": 272,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877394.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "S100B",
"gene_hgnc_id": 10500,
"hgvs_c": "c.272A>T",
"hgvs_p": "p.His91Leu",
"transcript": "ENST00000877395.1",
"protein_id": "ENSP00000547454.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 92,
"cds_start": 272,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877395.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "S100B",
"gene_hgnc_id": 10500,
"hgvs_c": "c.272A>T",
"hgvs_p": "p.His91Leu",
"transcript": "ENST00000928840.1",
"protein_id": "ENSP00000598899.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 92,
"cds_start": 272,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928840.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "S100B",
"gene_hgnc_id": 10500,
"hgvs_c": "c.272A>T",
"hgvs_p": "p.His91Leu",
"transcript": "ENST00000963271.1",
"protein_id": "ENSP00000633330.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 92,
"cds_start": 272,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963271.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "S100B",
"gene_hgnc_id": 10500,
"hgvs_c": "c.272A>T",
"hgvs_p": "p.His91Leu",
"transcript": "ENST00000963272.1",
"protein_id": "ENSP00000633331.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 92,
"cds_start": 272,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963272.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "S100B",
"gene_hgnc_id": 10500,
"hgvs_c": "c.272A>T",
"hgvs_p": "p.His91Leu",
"transcript": "ENST00000963273.1",
"protein_id": "ENSP00000633332.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 92,
"cds_start": 272,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963273.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "S100B",
"gene_hgnc_id": 10500,
"hgvs_c": "c.272A>T",
"hgvs_p": "p.His91Leu",
"transcript": "XM_017028424.3",
"protein_id": "XP_016883913.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 92,
"cds_start": 272,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017028424.3"
}
],
"gene_symbol": "S100B",
"gene_hgnc_id": 10500,
"dbsnp": "rs758094032",
"frequency_reference_population": 6.8422855e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84229e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13221368193626404,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.065,
"revel_prediction": "Benign",
"alphamissense_score": 0.1277,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.514,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 2,
"pathogenic_score": 4,
"criteria": [
"PM1",
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006272.3",
"gene_symbol": "S100B",
"hgnc_id": 10500,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.272A>T",
"hgvs_p": "p.His91Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}