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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: 7-36396283-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=36396283&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 3,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ANLN",
"hgnc_id": 14082,
"hgvs_c": "c.36C>A",
"hgvs_p": "p.Thr12Thr",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -1,
"transcript": "NM_018685.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_score": -1,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.35,
"chr": "7",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.3499999940395355,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1124,
"aa_ref": "T",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4731,
"cdna_start": 201,
"cds_end": null,
"cds_length": 3375,
"cds_start": 36,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_018685.5",
"gene_hgnc_id": 14082,
"gene_symbol": "ANLN",
"hgvs_c": "c.36C>A",
"hgvs_p": "p.Thr12Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000265748.7",
"protein_coding": true,
"protein_id": "NP_061155.2",
"strand": true,
"transcript": "NM_018685.5",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1124,
"aa_ref": "T",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4731,
"cdna_start": 201,
"cds_end": null,
"cds_length": 3375,
"cds_start": 36,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000265748.7",
"gene_hgnc_id": 14082,
"gene_symbol": "ANLN",
"hgvs_c": "c.36C>A",
"hgvs_p": "p.Thr12Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018685.5",
"protein_coding": true,
"protein_id": "ENSP00000265748.2",
"strand": true,
"transcript": "ENST00000265748.7",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1087,
"aa_ref": "T",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4661,
"cdna_start": 242,
"cds_end": null,
"cds_length": 3264,
"cds_start": 36,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000396068.6",
"gene_hgnc_id": 14082,
"gene_symbol": "ANLN",
"hgvs_c": "c.36C>A",
"hgvs_p": "p.Thr12Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379380.2",
"strand": true,
"transcript": "ENST00000396068.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1160,
"aa_ref": "T",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4862,
"cdna_start": 224,
"cds_end": null,
"cds_length": 3483,
"cds_start": 36,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000918505.1",
"gene_hgnc_id": 14082,
"gene_symbol": "ANLN",
"hgvs_c": "c.36C>A",
"hgvs_p": "p.Thr12Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588564.1",
"strand": true,
"transcript": "ENST00000918505.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1120,
"aa_ref": "T",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4854,
"cdna_start": 336,
"cds_end": null,
"cds_length": 3363,
"cds_start": 36,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000918503.1",
"gene_hgnc_id": 14082,
"gene_symbol": "ANLN",
"hgvs_c": "c.36C>A",
"hgvs_p": "p.Thr12Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588562.1",
"strand": true,
"transcript": "ENST00000918503.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1119,
"aa_ref": "T",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4711,
"cdna_start": 200,
"cds_end": null,
"cds_length": 3360,
"cds_start": 36,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000918506.1",
"gene_hgnc_id": 14082,
"gene_symbol": "ANLN",
"hgvs_c": "c.36C>A",
"hgvs_p": "p.Thr12Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588565.1",
"strand": true,
"transcript": "ENST00000918506.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1109,
"aa_ref": "T",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4739,
"cdna_start": 258,
"cds_end": null,
"cds_length": 3330,
"cds_start": 36,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000918504.1",
"gene_hgnc_id": 14082,
"gene_symbol": "ANLN",
"hgvs_c": "c.36C>A",
"hgvs_p": "p.Thr12Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588563.1",
"strand": true,
"transcript": "ENST00000918504.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1088,
"aa_ref": "T",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4686,
"cdna_start": 264,
"cds_end": null,
"cds_length": 3267,
"cds_start": 36,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000853901.1",
"gene_hgnc_id": 14082,
"gene_symbol": "ANLN",
"hgvs_c": "c.36C>A",
"hgvs_p": "p.Thr12Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523960.1",
"strand": true,
"transcript": "ENST00000853901.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1087,
"aa_ref": "T",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4620,
"cdna_start": 201,
"cds_end": null,
"cds_length": 3264,
"cds_start": 36,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001284301.3",
"gene_hgnc_id": 14082,
"gene_symbol": "ANLN",
"hgvs_c": "c.36C>A",
"hgvs_p": "p.Thr12Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001271230.1",
"strand": true,
"transcript": "NM_001284301.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1086,
"aa_ref": "T",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4617,
"cdna_start": 201,
"cds_end": null,
"cds_length": 3261,
"cds_start": 36,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001284302.3",
"gene_hgnc_id": 14082,
"gene_symbol": "ANLN",
"hgvs_c": "c.36C>A",
"hgvs_p": "p.Thr12Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001271231.1",
"strand": true,
"transcript": "NM_001284302.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1083,
"aa_ref": "T",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4638,
"cdna_start": 231,
"cds_end": null,
"cds_length": 3252,
"cds_start": 36,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000853902.1",
"gene_hgnc_id": 14082,
"gene_symbol": "ANLN",
"hgvs_c": "c.36C>A",
"hgvs_p": "p.Thr12Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523961.1",
"strand": true,
"transcript": "ENST00000853902.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1142,
"aa_ref": "T",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4785,
"cdna_start": 201,
"cds_end": null,
"cds_length": 3429,
"cds_start": 36,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_006715746.3",
"gene_hgnc_id": 14082,
"gene_symbol": "ANLN",
"hgvs_c": "c.36C>A",
"hgvs_p": "p.Thr12Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006715809.1",
"strand": true,
"transcript": "XM_006715746.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1138,
"aa_ref": "T",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4773,
"cdna_start": 201,
"cds_end": null,
"cds_length": 3417,
"cds_start": 36,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_017012354.3",
"gene_hgnc_id": 14082,
"gene_symbol": "ANLN",
"hgvs_c": "c.36C>A",
"hgvs_p": "p.Thr12Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016867843.1",
"strand": true,
"transcript": "XM_017012354.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1120,
"aa_ref": "T",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4719,
"cdna_start": 201,
"cds_end": null,
"cds_length": 3363,
"cds_start": 36,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_017012355.3",
"gene_hgnc_id": 14082,
"gene_symbol": "ANLN",
"hgvs_c": "c.36C>A",
"hgvs_p": "p.Thr12Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016867844.1",
"strand": true,
"transcript": "XM_017012355.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1105,
"aa_ref": "T",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4674,
"cdna_start": 201,
"cds_end": null,
"cds_length": 3318,
"cds_start": 36,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_006715747.5",
"gene_hgnc_id": 14082,
"gene_symbol": "ANLN",
"hgvs_c": "c.36C>A",
"hgvs_p": "p.Thr12Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006715810.1",
"strand": true,
"transcript": "XM_006715747.5",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1101,
"aa_ref": "T",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4662,
"cdna_start": 201,
"cds_end": null,
"cds_length": 3306,
"cds_start": 36,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047420504.1",
"gene_hgnc_id": 14082,
"gene_symbol": "ANLN",
"hgvs_c": "c.36C>A",
"hgvs_p": "p.Thr12Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276460.1",
"strand": true,
"transcript": "XM_047420504.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1083,
"aa_ref": "T",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4608,
"cdna_start": 201,
"cds_end": null,
"cds_length": 3252,
"cds_start": 36,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_017012356.3",
"gene_hgnc_id": 14082,
"gene_symbol": "ANLN",
"hgvs_c": "c.36C>A",
"hgvs_p": "p.Thr12Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016867845.1",
"strand": true,
"transcript": "XM_017012356.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 168,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 596,
"cdna_start": null,
"cds_end": null,
"cds_length": 507,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000424865.1",
"gene_hgnc_id": 14082,
"gene_symbol": "ANLN",
"hgvs_c": "c.-31C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000404979.1",
"strand": true,
"transcript": "ENST00000424865.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 35,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 463,
"cdna_start": null,
"cds_end": null,
"cds_length": 108,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000418118.1",
"gene_hgnc_id": 14082,
"gene_symbol": "ANLN",
"hgvs_c": "c.-31C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000406584.1",
"strand": true,
"transcript": "ENST00000418118.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs762482968",
"effect": "synonymous_variant",
"frequency_reference_population": 6.891324e-7,
"gene_hgnc_id": 14082,
"gene_symbol": "ANLN",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.89132e-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": -0.792,
"pos": 36396283,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_018685.5"
}
]
}