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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: 10-133267412-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=133267412&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 133267412,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001164489.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM8",
"gene_hgnc_id": 215,
"hgvs_c": "c.2092G>A",
"hgvs_p": "p.Gly698Ser",
"transcript": "ENST00000415217.7",
"protein_id": "ENSP00000453855.1",
"transcript_support_level": 1,
"aa_start": 698,
"aa_end": null,
"aa_length": 742,
"cds_start": 2092,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415217.7"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM8",
"gene_hgnc_id": 215,
"hgvs_c": "c.2259G>A",
"hgvs_p": "p.Pro753Pro",
"transcript": "NM_001109.5",
"protein_id": "NP_001100.3",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 824,
"cds_start": 2259,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000445355.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001109.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM8",
"gene_hgnc_id": 215,
"hgvs_c": "c.2259G>A",
"hgvs_p": "p.Pro753Pro",
"transcript": "ENST00000445355.8",
"protein_id": "ENSP00000453302.1",
"transcript_support_level": 1,
"aa_start": 753,
"aa_end": null,
"aa_length": 824,
"cds_start": 2259,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001109.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445355.8"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM8",
"gene_hgnc_id": 215,
"hgvs_c": "c.2092G>A",
"hgvs_p": "p.Gly698Ser",
"transcript": "NM_001164489.2",
"protein_id": "NP_001157961.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 742,
"cds_start": 2092,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164489.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM8",
"gene_hgnc_id": 215,
"hgvs_c": "c.2253G>A",
"hgvs_p": "p.Pro751Pro",
"transcript": "ENST00000897047.1",
"protein_id": "ENSP00000567106.1",
"transcript_support_level": null,
"aa_start": 751,
"aa_end": null,
"aa_length": 822,
"cds_start": 2253,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897047.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM8",
"gene_hgnc_id": 215,
"hgvs_c": "c.2253G>A",
"hgvs_p": "p.Pro751Pro",
"transcript": "ENST00000916032.1",
"protein_id": "ENSP00000586091.1",
"transcript_support_level": null,
"aa_start": 751,
"aa_end": null,
"aa_length": 822,
"cds_start": 2253,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916032.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM8",
"gene_hgnc_id": 215,
"hgvs_c": "c.2247G>A",
"hgvs_p": "p.Pro749Pro",
"transcript": "ENST00000897046.1",
"protein_id": "ENSP00000567105.1",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 820,
"cds_start": 2247,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897046.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM8",
"gene_hgnc_id": 215,
"hgvs_c": "c.2259G>A",
"hgvs_p": "p.Pro753Pro",
"transcript": "ENST00000897045.1",
"protein_id": "ENSP00000567104.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 798,
"cds_start": 2259,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897045.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM8",
"gene_hgnc_id": 215,
"hgvs_c": "c.2181G>A",
"hgvs_p": "p.Pro727Pro",
"transcript": "ENST00000897048.1",
"protein_id": "ENSP00000567107.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 772,
"cds_start": 2181,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897048.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM8",
"gene_hgnc_id": 215,
"hgvs_c": "c.2064G>A",
"hgvs_p": "p.Pro688Pro",
"transcript": "NM_001164490.2",
"protein_id": "NP_001157962.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 733,
"cds_start": 2064,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164490.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM8",
"gene_hgnc_id": 215,
"hgvs_c": "c.2064G>A",
"hgvs_p": "p.Pro688Pro",
"transcript": "ENST00000485491.6",
"protein_id": "ENSP00000453043.1",
"transcript_support_level": 2,
"aa_start": 688,
"aa_end": null,
"aa_length": 733,
"cds_start": 2064,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000485491.6"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM8",
"gene_hgnc_id": 215,
"hgvs_c": "c.2328G>A",
"hgvs_p": "p.Pro776Pro",
"transcript": "XM_047424423.1",
"protein_id": "XP_047280379.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 847,
"cds_start": 2328,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424423.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM8",
"gene_hgnc_id": 215,
"hgvs_c": "c.2328G>A",
"hgvs_p": "p.Pro776Pro",
"transcript": "XM_047424424.1",
"protein_id": "XP_047280380.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 821,
"cds_start": 2328,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424424.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM8",
"gene_hgnc_id": 215,
"hgvs_c": "c.2184G>A",
"hgvs_p": "p.Pro728Pro",
"transcript": "XM_047424425.1",
"protein_id": "XP_047280381.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 799,
"cds_start": 2184,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424425.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM8",
"gene_hgnc_id": 215,
"hgvs_c": "c.2259G>A",
"hgvs_p": "p.Pro753Pro",
"transcript": "XM_047424426.1",
"protein_id": "XP_047280382.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 798,
"cds_start": 2259,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424426.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM8",
"gene_hgnc_id": 215,
"hgvs_c": "n.2768G>A",
"hgvs_p": null,
"transcript": "XR_007061938.1",
"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": "XR_007061938.1"
}
],
"gene_symbol": "ADAM8",
"gene_hgnc_id": 215,
"dbsnp": "rs150169740",
"frequency_reference_population": 0.000029213013,
"hom_count_reference_population": 0,
"allele_count_reference_population": 47,
"gnomad_exomes_af": 0.000021281,
"gnomad_genomes_af": 0.000105143,
"gnomad_exomes_ac": 31,
"gnomad_genomes_ac": 16,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06384316086769104,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.0709,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.033,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001164489.2",
"gene_symbol": "ADAM8",
"hgnc_id": 215,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2092G>A",
"hgvs_p": "p.Gly698Ser"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}