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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: 22-46658223-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=46658223&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 46658223,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000406902.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD4",
"gene_hgnc_id": 29113,
"hgvs_c": "c.320C>T",
"hgvs_p": "p.Ala107Val",
"transcript": "NM_015124.5",
"protein_id": "NP_055939.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 578,
"cds_start": 320,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 549,
"cdna_end": null,
"cdna_length": 4500,
"mane_select": "ENST00000406902.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD4",
"gene_hgnc_id": 29113,
"hgvs_c": "c.320C>T",
"hgvs_p": "p.Ala107Val",
"transcript": "ENST00000406902.6",
"protein_id": "ENSP00000385689.1",
"transcript_support_level": 1,
"aa_start": 107,
"aa_end": null,
"aa_length": 578,
"cds_start": 320,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 549,
"cdna_end": null,
"cdna_length": 4500,
"mane_select": "NM_015124.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD4",
"gene_hgnc_id": 29113,
"hgvs_c": "c.320C>T",
"hgvs_p": "p.Ala107Val",
"transcript": "ENST00000361034.7",
"protein_id": "ENSP00000354313.3",
"transcript_support_level": 1,
"aa_start": 107,
"aa_end": null,
"aa_length": 578,
"cds_start": 320,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 4315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD4",
"gene_hgnc_id": 29113,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Ala133Val",
"transcript": "NM_001366660.1",
"protein_id": "NP_001353589.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 561,
"cds_start": 398,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 572,
"cdna_end": null,
"cdna_length": 2161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD4",
"gene_hgnc_id": 29113,
"hgvs_c": "c.407C>T",
"hgvs_p": "p.Ala136Val",
"transcript": "XM_047441205.1",
"protein_id": "XP_047297161.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 607,
"cds_start": 407,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 649,
"cdna_end": null,
"cdna_length": 4600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD4",
"gene_hgnc_id": 29113,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Ala133Val",
"transcript": "XM_005261396.4",
"protein_id": "XP_005261453.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 604,
"cds_start": 398,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 572,
"cdna_end": null,
"cdna_length": 4523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD4",
"gene_hgnc_id": 29113,
"hgvs_c": "c.389C>T",
"hgvs_p": "p.Ala130Val",
"transcript": "XM_006724169.2",
"protein_id": "XP_006724232.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 601,
"cds_start": 389,
"cds_end": null,
"cds_length": 1806,
"cdna_start": 704,
"cdna_end": null,
"cdna_length": 4655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD4",
"gene_hgnc_id": 29113,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Ala133Val",
"transcript": "XM_047441206.1",
"protein_id": "XP_047297162.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 581,
"cds_start": 398,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 572,
"cdna_end": null,
"cdna_length": 4454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD4",
"gene_hgnc_id": 29113,
"hgvs_c": "c.320C>T",
"hgvs_p": "p.Ala107Val",
"transcript": "XM_006724170.5",
"protein_id": "XP_006724233.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 578,
"cds_start": 320,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 547,
"cdna_end": null,
"cdna_length": 4498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD4",
"gene_hgnc_id": 29113,
"hgvs_c": "c.320C>T",
"hgvs_p": "p.Ala107Val",
"transcript": "XM_017028670.3",
"protein_id": "XP_016884159.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 578,
"cds_start": 320,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 516,
"cdna_end": null,
"cdna_length": 4467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD4",
"gene_hgnc_id": 29113,
"hgvs_c": "c.320C>T",
"hgvs_p": "p.Ala107Val",
"transcript": "XM_047441207.1",
"protein_id": "XP_047297163.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 578,
"cds_start": 320,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 4485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD4",
"gene_hgnc_id": 29113,
"hgvs_c": "c.320C>T",
"hgvs_p": "p.Ala107Val",
"transcript": "XM_047441208.1",
"protein_id": "XP_047297164.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 578,
"cds_start": 320,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 499,
"cdna_end": null,
"cdna_length": 4450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD4",
"gene_hgnc_id": 29113,
"hgvs_c": "c.320C>T",
"hgvs_p": "p.Ala107Val",
"transcript": "XM_047441209.1",
"protein_id": "XP_047297165.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 578,
"cds_start": 320,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 4412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD4",
"gene_hgnc_id": 29113,
"hgvs_c": "c.320C>T",
"hgvs_p": "p.Ala107Val",
"transcript": "XM_047441210.1",
"protein_id": "XP_047297166.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 578,
"cds_start": 320,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 533,
"cdna_end": null,
"cdna_length": 4484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD4",
"gene_hgnc_id": 29113,
"hgvs_c": "c.320C>T",
"hgvs_p": "p.Ala107Val",
"transcript": "XM_047441211.1",
"protein_id": "XP_047297167.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 578,
"cds_start": 320,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 934,
"cdna_end": null,
"cdna_length": 4885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD4",
"gene_hgnc_id": 29113,
"hgvs_c": "c.320C>T",
"hgvs_p": "p.Ala107Val",
"transcript": "XM_011530011.2",
"protein_id": "XP_011528313.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 577,
"cds_start": 320,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 3959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD4",
"gene_hgnc_id": 29113,
"hgvs_c": "c.320C>T",
"hgvs_p": "p.Ala107Val",
"transcript": "XM_011530012.2",
"protein_id": "XP_011528314.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 555,
"cds_start": 320,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 515,
"cdna_end": null,
"cdna_length": 4397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD4",
"gene_hgnc_id": 29113,
"hgvs_c": "c.320C>T",
"hgvs_p": "p.Ala107Val",
"transcript": "XM_011530014.2",
"protein_id": "XP_011528316.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 453,
"cds_start": 320,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 369,
"cdna_end": null,
"cdna_length": 1559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD4",
"gene_hgnc_id": 29113,
"hgvs_c": "c.-5C>T",
"hgvs_p": null,
"transcript": "XM_047441212.1",
"protein_id": "XP_047297168.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 470,
"cds_start": -4,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GRAMD4",
"gene_hgnc_id": 29113,
"dbsnp": "rs765841447",
"frequency_reference_population": 0.0000334655,
"hom_count_reference_population": 1,
"allele_count_reference_population": 54,
"gnomad_exomes_af": 0.0000348978,
"gnomad_genomes_af": 0.0000197119,
"gnomad_exomes_ac": 51,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00958472490310669,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.073,
"revel_prediction": "Benign",
"alphamissense_score": 0.0996,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.823,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000406902.6",
"gene_symbol": "GRAMD4",
"hgnc_id": 29113,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.320C>T",
"hgvs_p": "p.Ala107Val"
}
],
"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
}