← Back to variant description
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: 12-64830492-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=64830492&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TBC1D30",
"hgnc_id": 29164,
"hgvs_c": "c.398A>T",
"hgvs_p": "p.Gln133Leu",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_015279.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000288591",
"hgnc_id": null,
"hgvs_c": "n.56A>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "ENST00000674281.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 20,
"alphamissense_prediction": null,
"alphamissense_score": 0.954,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.28,
"chr": "12",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.927478551864624,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 761,
"aa_ref": "Q",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7764,
"cdna_start": 631,
"cds_end": null,
"cds_length": 2286,
"cds_start": 398,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_015279.2",
"gene_hgnc_id": 29164,
"gene_symbol": "TBC1D30",
"hgvs_c": "c.398A>T",
"hgvs_p": "p.Gln133Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000539867.6",
"protein_coding": true,
"protein_id": "NP_056094.1",
"strand": true,
"transcript": "NM_015279.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 761,
"aa_ref": "Q",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7764,
"cdna_start": 631,
"cds_end": null,
"cds_length": 2286,
"cds_start": 398,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000539867.6",
"gene_hgnc_id": 29164,
"gene_symbol": "TBC1D30",
"hgvs_c": "c.398A>T",
"hgvs_p": "p.Gln133Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015279.2",
"protein_coding": true,
"protein_id": "ENSP00000440207.1",
"strand": true,
"transcript": "ENST00000539867.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 924,
"aa_ref": "Q",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8312,
"cdna_start": 1180,
"cds_end": null,
"cds_length": 2775,
"cds_start": 887,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000542120.6",
"gene_hgnc_id": 29164,
"gene_symbol": "TBC1D30",
"hgvs_c": "c.887A>T",
"hgvs_p": "p.Gln296Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440640.2",
"strand": true,
"transcript": "ENST00000542120.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 6883,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000674281.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000288591",
"hgvs_c": "n.56A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501395.1",
"strand": true,
"transcript": "ENST00000674281.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 737,
"aa_ref": "Q",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7692,
"cdna_start": 631,
"cds_end": null,
"cds_length": 2214,
"cds_start": 398,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001330186.2",
"gene_hgnc_id": 29164,
"gene_symbol": "TBC1D30",
"hgvs_c": "c.398A>T",
"hgvs_p": "p.Gln133Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317115.1",
"strand": true,
"transcript": "NM_001330186.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 647,
"aa_ref": "Q",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7730,
"cdna_start": 597,
"cds_end": null,
"cds_length": 1944,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001330187.2",
"gene_hgnc_id": 29164,
"gene_symbol": "TBC1D30",
"hgvs_c": "c.56A>T",
"hgvs_p": "p.Gln19Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317116.1",
"strand": true,
"transcript": "NM_001330187.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 647,
"aa_ref": "Q",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8096,
"cdna_start": 963,
"cds_end": null,
"cds_length": 1944,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001330188.2",
"gene_hgnc_id": 29164,
"gene_symbol": "TBC1D30",
"hgvs_c": "c.56A>T",
"hgvs_p": "p.Gln19Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317117.1",
"strand": true,
"transcript": "NM_001330188.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 647,
"aa_ref": "Q",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7445,
"cdna_start": 312,
"cds_end": null,
"cds_length": 1944,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001364838.2",
"gene_hgnc_id": 29164,
"gene_symbol": "TBC1D30",
"hgvs_c": "c.56A>T",
"hgvs_p": "p.Gln19Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001351767.1",
"strand": true,
"transcript": "NM_001364838.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 647,
"aa_ref": "Q",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5320,
"cdna_start": 597,
"cds_end": null,
"cds_length": 1944,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000674237.1",
"gene_hgnc_id": 29164,
"gene_symbol": "TBC1D30",
"hgvs_c": "c.56A>T",
"hgvs_p": "p.Gln19Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501371.1",
"strand": true,
"transcript": "ENST00000674237.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 90,
"aa_ref": "Q",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 721,
"cdna_start": 503,
"cds_end": null,
"cds_length": 274,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000539120.1",
"gene_hgnc_id": 29164,
"gene_symbol": "TBC1D30",
"hgvs_c": "c.56A>T",
"hgvs_p": "p.Gln19Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000442442.1",
"strand": true,
"transcript": "ENST00000539120.1",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 944,
"aa_ref": "Q",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9984,
"cdna_start": 2791,
"cds_end": null,
"cds_length": 2835,
"cds_start": 887,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047428595.1",
"gene_hgnc_id": 29164,
"gene_symbol": "TBC1D30",
"hgvs_c": "c.887A>T",
"hgvs_p": "p.Gln296Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284551.1",
"strand": true,
"transcript": "XM_047428595.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 924,
"aa_ref": "Q",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9924,
"cdna_start": 2791,
"cds_end": null,
"cds_length": 2775,
"cds_start": 887,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047428596.1",
"gene_hgnc_id": 29164,
"gene_symbol": "TBC1D30",
"hgvs_c": "c.887A>T",
"hgvs_p": "p.Gln296Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284552.1",
"strand": true,
"transcript": "XM_047428596.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 900,
"aa_ref": "Q",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9852,
"cdna_start": 2791,
"cds_end": null,
"cds_length": 2703,
"cds_start": 887,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_024448903.2",
"gene_hgnc_id": 29164,
"gene_symbol": "TBC1D30",
"hgvs_c": "c.887A>T",
"hgvs_p": "p.Gln296Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024304671.1",
"strand": true,
"transcript": "XM_024448903.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 781,
"aa_ref": "Q",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7824,
"cdna_start": 631,
"cds_end": null,
"cds_length": 2346,
"cds_start": 398,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011538078.3",
"gene_hgnc_id": 29164,
"gene_symbol": "TBC1D30",
"hgvs_c": "c.398A>T",
"hgvs_p": "p.Gln133Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011536380.1",
"strand": true,
"transcript": "XM_011538078.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 667,
"aa_ref": "Q",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7768,
"cdna_start": 575,
"cds_end": null,
"cds_length": 2004,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_024448904.2",
"gene_hgnc_id": 29164,
"gene_symbol": "TBC1D30",
"hgvs_c": "c.56A>T",
"hgvs_p": "p.Gln19Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024304672.1",
"strand": true,
"transcript": "XM_024448904.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 667,
"aa_ref": "Q",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7505,
"cdna_start": 312,
"cds_end": null,
"cds_length": 2004,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047428597.1",
"gene_hgnc_id": 29164,
"gene_symbol": "TBC1D30",
"hgvs_c": "c.56A>T",
"hgvs_p": "p.Gln19Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284553.1",
"strand": true,
"transcript": "XM_047428597.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 647,
"aa_ref": "Q",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7708,
"cdna_start": 575,
"cds_end": null,
"cds_length": 1944,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047428599.1",
"gene_hgnc_id": 29164,
"gene_symbol": "TBC1D30",
"hgvs_c": "c.56A>T",
"hgvs_p": "p.Gln19Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284555.1",
"strand": true,
"transcript": "XM_047428599.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 623,
"aa_ref": "Q",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7636,
"cdna_start": 575,
"cds_end": null,
"cds_length": 1872,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047428600.1",
"gene_hgnc_id": 29164,
"gene_symbol": "TBC1D30",
"hgvs_c": "c.56A>T",
"hgvs_p": "p.Gln19Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284556.1",
"strand": true,
"transcript": "XM_047428600.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 623,
"aa_ref": "Q",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7373,
"cdna_start": 312,
"cds_end": null,
"cds_length": 1872,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047428601.1",
"gene_hgnc_id": 29164,
"gene_symbol": "TBC1D30",
"hgvs_c": "c.56A>T",
"hgvs_p": "p.Gln19Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284557.1",
"strand": true,
"transcript": "XM_047428601.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 122,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 582,
"cdna_start": null,
"cds_end": null,
"cds_length": 369,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000544457.1",
"gene_hgnc_id": 29164,
"gene_symbol": "TBC1D30",
"hgvs_c": "c.283-1627A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000439897.1",
"strand": true,
"transcript": "ENST00000544457.1",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 7433,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000674171.1",
"gene_hgnc_id": 29164,
"gene_symbol": "TBC1D30",
"hgvs_c": "n.*237A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501420.1",
"strand": true,
"transcript": "ENST00000674171.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 7433,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000674171.1",
"gene_hgnc_id": 29164,
"gene_symbol": "TBC1D30",
"hgvs_c": "n.*237A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501420.1",
"strand": true,
"transcript": "ENST00000674171.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs758803261",
"effect": "missense_variant",
"frequency_reference_population": 0.000013050707,
"gene_hgnc_id": 29164,
"gene_symbol": "TBC1D30",
"gnomad_exomes_ac": 17,
"gnomad_exomes_af": 0.0000123163,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 3,
"gnomad_genomes_af": 0.0000197106,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 9.249,
"pos": 64830492,
"ref": "A",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.624,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_015279.2"
}
]
}