← 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: 17-68271176-GCG-ACA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=68271176&ref=GCG&alt=ACA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC16A6",
"hgnc_id": 10927,
"hgvs_c": "c.982_984delCGCinsTGT",
"hgvs_p": "p.Arg328Cys",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_004694.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "ARSG",
"hgnc_id": 24102,
"hgvs_c": "c.-552+11750_-552+11752delGCGinsACA",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_014960.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "ACA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 523,
"aa_ref": "R",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3691,
"cdna_start": 1033,
"cds_end": null,
"cds_length": 1572,
"cds_start": 982,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_004694.5",
"gene_hgnc_id": 10927,
"gene_symbol": "SLC16A6",
"hgvs_c": "c.982_984delCGCinsTGT",
"hgvs_p": "p.Arg328Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000580666.6",
"protein_coding": true,
"protein_id": "NP_004685.2",
"strand": false,
"transcript": "NM_004694.5",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 523,
"aa_ref": "R",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3691,
"cdna_start": 1033,
"cds_end": null,
"cds_length": 1572,
"cds_start": 982,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000580666.6",
"gene_hgnc_id": 10927,
"gene_symbol": "SLC16A6",
"hgvs_c": "c.982_984delCGCinsTGT",
"hgvs_p": "p.Arg328Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004694.5",
"protein_coding": true,
"protein_id": "ENSP00000462985.1",
"strand": false,
"transcript": "ENST00000580666.6",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 523,
"aa_ref": "R",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3807,
"cdna_start": 1149,
"cds_end": null,
"cds_length": 1572,
"cds_start": 982,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000327268.8",
"gene_hgnc_id": 10927,
"gene_symbol": "SLC16A6",
"hgvs_c": "c.982_984delCGCinsTGT",
"hgvs_p": "p.Arg328Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000319991.4",
"strand": false,
"transcript": "ENST00000327268.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 525,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4642,
"cdna_start": null,
"cds_end": null,
"cds_length": 1578,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000448504.6",
"gene_hgnc_id": 24102,
"gene_symbol": "ARSG",
"hgvs_c": "c.-552+11750_-552+11752delGCGinsACA",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000407193.2",
"strand": true,
"transcript": "ENST00000448504.6",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 523,
"aa_ref": "R",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3818,
"cdna_start": 1160,
"cds_end": null,
"cds_length": 1572,
"cds_start": 982,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001174166.2",
"gene_hgnc_id": 10927,
"gene_symbol": "SLC16A6",
"hgvs_c": "c.982_984delCGCinsTGT",
"hgvs_p": "p.Arg328Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001167637.1",
"strand": false,
"transcript": "NM_001174166.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 523,
"aa_ref": "R",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2668,
"cdna_start": 1182,
"cds_end": null,
"cds_length": 1572,
"cds_start": 982,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957248.1",
"gene_hgnc_id": 10927,
"gene_symbol": "SLC16A6",
"hgvs_c": "c.982_984delCGCinsTGT",
"hgvs_p": "p.Arg328Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627307.1",
"strand": false,
"transcript": "ENST00000957248.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 523,
"aa_ref": "R",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2286,
"cdna_start": 1224,
"cds_end": null,
"cds_length": 1572,
"cds_start": 982,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957249.1",
"gene_hgnc_id": 10927,
"gene_symbol": "SLC16A6",
"hgvs_c": "c.982_984delCGCinsTGT",
"hgvs_p": "p.Arg328Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627308.1",
"strand": false,
"transcript": "ENST00000957249.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 542,
"aa_ref": "R",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3736,
"cdna_start": 1078,
"cds_end": null,
"cds_length": 1629,
"cds_start": 1039,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_024451021.2",
"gene_hgnc_id": 10927,
"gene_symbol": "SLC16A6",
"hgvs_c": "c.1039_1041delCGCinsTGT",
"hgvs_p": "p.Arg347Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024306789.2",
"strand": false,
"transcript": "XM_024451021.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 523,
"aa_ref": "R",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3741,
"cdna_start": 1083,
"cds_end": null,
"cds_length": 1572,
"cds_start": 982,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011525461.4",
"gene_hgnc_id": 10927,
"gene_symbol": "SLC16A6",
"hgvs_c": "c.982_984delCGCinsTGT",
"hgvs_p": "p.Arg328Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011523763.1",
"strand": false,
"transcript": "XM_011525461.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 523,
"aa_ref": "R",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3669,
"cdna_start": 1011,
"cds_end": null,
"cds_length": 1572,
"cds_start": 982,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017025292.3",
"gene_hgnc_id": 10927,
"gene_symbol": "SLC16A6",
"hgvs_c": "c.982_984delCGCinsTGT",
"hgvs_p": "p.Arg328Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016880781.1",
"strand": false,
"transcript": "XM_017025292.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 523,
"aa_ref": "R",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3761,
"cdna_start": 1103,
"cds_end": null,
"cds_length": 1572,
"cds_start": 982,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047437020.1",
"gene_hgnc_id": 10927,
"gene_symbol": "SLC16A6",
"hgvs_c": "c.982_984delCGCinsTGT",
"hgvs_p": "p.Arg328Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292976.1",
"strand": false,
"transcript": "XM_047437020.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 525,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4654,
"cdna_start": null,
"cds_end": null,
"cds_length": 1578,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_014960.5",
"gene_hgnc_id": 24102,
"gene_symbol": "ARSG",
"hgvs_c": "c.-552+11750_-552+11752delGCGinsACA",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055775.2",
"strand": true,
"transcript": "NM_014960.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 524,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4651,
"cdna_start": null,
"cds_end": null,
"cds_length": 1575,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001352903.2",
"gene_hgnc_id": 24102,
"gene_symbol": "ARSG",
"hgvs_c": "c.-552+11750_-552+11752delGCGinsACA",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339832.1",
"strand": true,
"transcript": "NM_001352903.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 524,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3165,
"cdna_start": null,
"cds_end": null,
"cds_length": 1575,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001352904.2",
"gene_hgnc_id": 24102,
"gene_symbol": "ARSG",
"hgvs_c": "c.-552+11750_-552+11752delGCGinsACA",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339833.1",
"strand": true,
"transcript": "NM_001352904.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 552,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4735,
"cdna_start": null,
"cds_end": null,
"cds_length": 1659,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047435632.1",
"gene_hgnc_id": 24102,
"gene_symbol": "ARSG",
"hgvs_c": "c.-552+11750_-552+11752delGCGinsACA",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291588.1",
"strand": true,
"transcript": "XM_047435632.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 525,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3168,
"cdna_start": null,
"cds_end": null,
"cds_length": 1578,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047435639.1",
"gene_hgnc_id": 24102,
"gene_symbol": "ARSG",
"hgvs_c": "c.-552+11750_-552+11752delGCGinsACA",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291595.1",
"strand": true,
"transcript": "XM_047435639.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 461,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3564,
"cdna_start": null,
"cds_end": null,
"cds_length": 1386,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047435644.1",
"gene_hgnc_id": 24102,
"gene_symbol": "ARSG",
"hgvs_c": "c.-552+11750_-552+11752delGCGinsACA",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291600.1",
"strand": true,
"transcript": "XM_047435644.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 461,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2932,
"cdna_start": null,
"cds_end": null,
"cds_length": 1386,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047435645.1",
"gene_hgnc_id": 24102,
"gene_symbol": "ARSG",
"hgvs_c": "c.-552+11750_-552+11752delGCGinsACA",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291601.1",
"strand": true,
"transcript": "XM_047435645.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 427,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3443,
"cdna_start": null,
"cds_end": null,
"cds_length": 1284,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047435647.1",
"gene_hgnc_id": 24102,
"gene_symbol": "ARSG",
"hgvs_c": "c.-552+11750_-552+11752delGCGinsACA",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291603.1",
"strand": true,
"transcript": "XM_047435647.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 413,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4533,
"cdna_start": null,
"cds_end": null,
"cds_length": 1242,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047435649.1",
"gene_hgnc_id": 24102,
"gene_symbol": "ARSG",
"hgvs_c": "c.-552+11750_-552+11752delGCGinsACA",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291605.1",
"strand": true,
"transcript": "XM_047435649.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 344,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2626,
"cdna_start": null,
"cds_end": null,
"cds_length": 1035,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047435653.1",
"gene_hgnc_id": 24102,
"gene_symbol": "ARSG",
"hgvs_c": "c.-552+11750_-552+11752delGCGinsACA",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291609.1",
"strand": true,
"transcript": "XM_047435653.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 329,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2535,
"cdna_start": null,
"cds_end": null,
"cds_length": 990,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047435655.1",
"gene_hgnc_id": 24102,
"gene_symbol": "ARSG",
"hgvs_c": "c.-552+11750_-552+11752delGCGinsACA",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291611.1",
"strand": true,
"transcript": "XM_047435655.1",
"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": 701,
"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": "ENST00000578726.1",
"gene_hgnc_id": 24102,
"gene_symbol": "ARSG",
"hgvs_c": "n.27-2714_27-2712delGCGinsACA",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000578726.1",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 10927,
"gene_symbol": "SLC16A6",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"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": 3.031,
"pos": 68271176,
"ref": "GCG",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_004694.5"
}
]
}