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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: 5-83553500-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=83553500&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "VCAN",
"hgnc_id": 2464,
"hgvs_c": "c.9630C>G",
"hgvs_p": "p.His3210Gln",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_004385.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "VCAN-AS1",
"hgnc_id": 40163,
"hgvs_c": "n.284+8531G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000512090.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.4206,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.67,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.18725737929344177,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 3396,
"aa_ref": "H",
"aa_start": 3210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12345,
"cdna_start": 9916,
"cds_end": null,
"cds_length": 10191,
"cds_start": 9630,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_004385.5",
"gene_hgnc_id": 2464,
"gene_symbol": "VCAN",
"hgvs_c": "c.9630C>G",
"hgvs_p": "p.His3210Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000265077.8",
"protein_coding": true,
"protein_id": "NP_004376.2",
"strand": true,
"transcript": "NM_004385.5",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 3396,
"aa_ref": "H",
"aa_start": 3210,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 12345,
"cdna_start": 9916,
"cds_end": null,
"cds_length": 10191,
"cds_start": 9630,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000265077.8",
"gene_hgnc_id": 2464,
"gene_symbol": "VCAN",
"hgvs_c": "c.9630C>G",
"hgvs_p": "p.His3210Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004385.5",
"protein_coding": true,
"protein_id": "ENSP00000265077.3",
"strand": true,
"transcript": "ENST00000265077.8",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2409,
"aa_ref": "H",
"aa_start": 2223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9455,
"cdna_start": 7025,
"cds_end": null,
"cds_length": 7230,
"cds_start": 6669,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000343200.9",
"gene_hgnc_id": 2464,
"gene_symbol": "VCAN",
"hgvs_c": "c.6669C>G",
"hgvs_p": "p.His2223Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000340062.5",
"strand": true,
"transcript": "ENST00000343200.9",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1642,
"aa_ref": "H",
"aa_start": 1456,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7154,
"cdna_start": 4724,
"cds_end": null,
"cds_length": 4929,
"cds_start": 4368,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000342785.8",
"gene_hgnc_id": 2464,
"gene_symbol": "VCAN",
"hgvs_c": "c.4368C>G",
"hgvs_p": "p.His1456Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000342768.4",
"strand": true,
"transcript": "ENST00000342785.8",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1594,
"aa_ref": "H",
"aa_start": 1408,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5923,
"cdna_start": 4634,
"cds_end": null,
"cds_length": 4785,
"cds_start": 4224,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000512590.6",
"gene_hgnc_id": 2464,
"gene_symbol": "VCAN",
"hgvs_c": "c.4224C>G",
"hgvs_p": "p.His1408Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000425959.2",
"strand": true,
"transcript": "ENST00000512590.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 655,
"aa_ref": "H",
"aa_start": 469,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2087,
"cdna_start": 1512,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1407,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000502527.2",
"gene_hgnc_id": 2464,
"gene_symbol": "VCAN",
"hgvs_c": "c.1407C>G",
"hgvs_p": "p.His469Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000421362.2",
"strand": true,
"transcript": "ENST00000502527.2",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 8483,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000513016.5",
"gene_hgnc_id": 2464,
"gene_symbol": "VCAN",
"hgvs_c": "n.7020C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000513016.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2409,
"aa_ref": "H",
"aa_start": 2223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9384,
"cdna_start": 6955,
"cds_end": null,
"cds_length": 7230,
"cds_start": 6669,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001164097.2",
"gene_hgnc_id": 2464,
"gene_symbol": "VCAN",
"hgvs_c": "c.6669C>G",
"hgvs_p": "p.His2223Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001157569.1",
"strand": true,
"transcript": "NM_001164097.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1642,
"aa_ref": "H",
"aa_start": 1456,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7083,
"cdna_start": 4654,
"cds_end": null,
"cds_length": 4929,
"cds_start": 4368,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001164098.2",
"gene_hgnc_id": 2464,
"gene_symbol": "VCAN",
"hgvs_c": "c.4368C>G",
"hgvs_p": "p.His1456Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001157570.1",
"strand": true,
"transcript": "NM_001164098.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 655,
"aa_ref": "H",
"aa_start": 469,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4122,
"cdna_start": 1693,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1407,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001126336.3",
"gene_hgnc_id": 2464,
"gene_symbol": "VCAN",
"hgvs_c": "c.1407C>G",
"hgvs_p": "p.His469Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001119808.1",
"strand": true,
"transcript": "NM_001126336.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 810,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000505615.1",
"gene_hgnc_id": 2464,
"gene_symbol": "VCAN",
"hgvs_c": "n.139C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000505615.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 424,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000512090.1",
"gene_hgnc_id": 40163,
"gene_symbol": "VCAN-AS1",
"hgvs_c": "n.284+8531G>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000512090.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 453,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000513899.1",
"gene_hgnc_id": 40163,
"gene_symbol": "VCAN-AS1",
"hgvs_c": "n.229-11799G>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000513899.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 424,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_136215.1",
"gene_hgnc_id": 40163,
"gene_symbol": "VCAN-AS1",
"hgvs_c": "n.284+8531G>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_136215.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 766,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000507162.1",
"gene_hgnc_id": 2464,
"gene_symbol": "VCAN",
"hgvs_c": "n.*26C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000507162.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs16900564",
"effect": "missense_variant",
"frequency_reference_population": 6.840975e-7,
"gene_hgnc_id": 2464,
"gene_symbol": "VCAN",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84097e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": -4.505,
"pos": 83553500,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.103,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_004385.5"
}
]
}