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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: 12-131136042-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=131136042&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 131136042,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000261654.10",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRD1",
"gene_hgnc_id": 19893,
"hgvs_c": "c.2273C>T",
"hgvs_p": "p.Thr758Ile",
"transcript": "NM_198827.5",
"protein_id": "NP_942122.2",
"transcript_support_level": null,
"aa_start": 758,
"aa_end": null,
"aa_length": 874,
"cds_start": 2273,
"cds_end": null,
"cds_length": 2625,
"cdna_start": 2832,
"cdna_end": null,
"cdna_length": 5390,
"mane_select": "ENST00000261654.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRD1",
"gene_hgnc_id": 19893,
"hgvs_c": "c.2273C>T",
"hgvs_p": "p.Thr758Ile",
"transcript": "ENST00000261654.10",
"protein_id": "ENSP00000261654.5",
"transcript_support_level": 1,
"aa_start": 758,
"aa_end": null,
"aa_length": 874,
"cds_start": 2273,
"cds_end": null,
"cds_length": 2625,
"cdna_start": 2832,
"cdna_end": null,
"cdna_length": 5390,
"mane_select": "NM_198827.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRD1",
"gene_hgnc_id": 19893,
"hgvs_c": "c.2369C>T",
"hgvs_p": "p.Thr790Ile",
"transcript": "ENST00000535015.5",
"protein_id": "ENSP00000444425.1",
"transcript_support_level": 1,
"aa_start": 790,
"aa_end": null,
"aa_length": 906,
"cds_start": 2369,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2399,
"cdna_end": null,
"cdna_length": 2776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRD1",
"gene_hgnc_id": 19893,
"hgvs_c": "c.830C>T",
"hgvs_p": "p.Thr277Ile",
"transcript": "ENST00000543617.2",
"protein_id": "ENSP00000438021.1",
"transcript_support_level": 1,
"aa_start": 277,
"aa_end": null,
"aa_length": 393,
"cds_start": 830,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 830,
"cdna_end": null,
"cdna_length": 1182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRD1",
"gene_hgnc_id": 19893,
"hgvs_c": "c.119C>T",
"hgvs_p": "p.Thr40Ile",
"transcript": "ENST00000335486.10",
"protein_id": "ENSP00000334127.7",
"transcript_support_level": 1,
"aa_start": 40,
"aa_end": null,
"aa_length": 156,
"cds_start": 119,
"cds_end": null,
"cds_length": 471,
"cdna_start": 334,
"cdna_end": null,
"cdna_length": 2892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRD1",
"gene_hgnc_id": 19893,
"hgvs_c": "c.2369C>T",
"hgvs_p": "p.Thr790Ile",
"transcript": "NM_001330497.2",
"protein_id": "NP_001317426.1",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 906,
"cds_start": 2369,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2928,
"cdna_end": null,
"cdna_length": 5486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRD1",
"gene_hgnc_id": 19893,
"hgvs_c": "c.2369C>T",
"hgvs_p": "p.Thr790Ile",
"transcript": "XM_011538204.2",
"protein_id": "XP_011536506.1",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 875,
"cds_start": 2369,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 2928,
"cdna_end": null,
"cdna_length": 5393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRD1",
"gene_hgnc_id": 19893,
"hgvs_c": "c.2189C>T",
"hgvs_p": "p.Thr730Ile",
"transcript": "XM_011538205.2",
"protein_id": "XP_011536507.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 846,
"cds_start": 2189,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 2748,
"cdna_end": null,
"cdna_length": 5306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRD1",
"gene_hgnc_id": 19893,
"hgvs_c": "c.2153C>T",
"hgvs_p": "p.Thr718Ile",
"transcript": "XM_011538206.2",
"protein_id": "XP_011536508.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 834,
"cds_start": 2153,
"cds_end": null,
"cds_length": 2505,
"cdna_start": 2712,
"cdna_end": null,
"cdna_length": 5270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRD1",
"gene_hgnc_id": 19893,
"hgvs_c": "c.2093C>T",
"hgvs_p": "p.Thr698Ile",
"transcript": "XM_005253566.2",
"protein_id": "XP_005253623.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 814,
"cds_start": 2093,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 2652,
"cdna_end": null,
"cdna_length": 5210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRD1",
"gene_hgnc_id": 19893,
"hgvs_c": "c.1934C>T",
"hgvs_p": "p.Thr645Ile",
"transcript": "XM_011538208.2",
"protein_id": "XP_011536510.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 761,
"cds_start": 1934,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 2493,
"cdna_end": null,
"cdna_length": 5051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRD1",
"gene_hgnc_id": 19893,
"hgvs_c": "c.1865C>T",
"hgvs_p": "p.Thr622Ile",
"transcript": "XM_011538209.2",
"protein_id": "XP_011536511.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 738,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2424,
"cdna_end": null,
"cdna_length": 4982,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRD1",
"gene_hgnc_id": 19893,
"hgvs_c": "c.1838C>T",
"hgvs_p": "p.Thr613Ile",
"transcript": "XM_047428719.1",
"protein_id": "XP_047284675.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 729,
"cds_start": 1838,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 2397,
"cdna_end": null,
"cdna_length": 4955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRD1",
"gene_hgnc_id": 19893,
"hgvs_c": "c.1361C>T",
"hgvs_p": "p.Thr454Ile",
"transcript": "XM_011538211.3",
"protein_id": "XP_011536513.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 570,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 3167,
"cdna_end": null,
"cdna_length": 5725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRD1",
"gene_hgnc_id": 19893,
"hgvs_c": "c.1139C>T",
"hgvs_p": "p.Thr380Ile",
"transcript": "XM_011538212.2",
"protein_id": "XP_011536514.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 496,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 1213,
"cdna_end": null,
"cdna_length": 3771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRD1",
"gene_hgnc_id": 19893,
"hgvs_c": "n.1586C>T",
"hgvs_p": null,
"transcript": "ENST00000376682.8",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRD1",
"gene_hgnc_id": 19893,
"hgvs_c": "n.623C>T",
"hgvs_p": null,
"transcript": "ENST00000446583.6",
"protein_id": "ENSP00000482235.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRD1",
"gene_hgnc_id": 19893,
"hgvs_c": "n.313C>T",
"hgvs_p": null,
"transcript": "ENST00000537489.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRD1",
"gene_hgnc_id": 19893,
"hgvs_c": "n.140C>T",
"hgvs_p": null,
"transcript": "ENST00000540207.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRD1",
"gene_hgnc_id": 19893,
"hgvs_c": "c.*3582C>T",
"hgvs_p": null,
"transcript": "XM_011538207.2",
"protein_id": "XP_011536509.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 807,
"cds_start": -4,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRD1",
"gene_hgnc_id": 19893,
"hgvs_c": "c.*3582C>T",
"hgvs_p": null,
"transcript": "XM_047428717.1",
"protein_id": "XP_047284673.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 775,
"cds_start": -4,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRD1",
"gene_hgnc_id": 19893,
"hgvs_c": "c.*3582C>T",
"hgvs_p": null,
"transcript": "XM_047428718.1",
"protein_id": "XP_047284674.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 735,
"cds_start": -4,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ADGRD1",
"gene_hgnc_id": 19893,
"dbsnp": "rs755095947",
"frequency_reference_population": 0.00003407763,
"hom_count_reference_population": 0,
"allele_count_reference_population": 55,
"gnomad_exomes_af": 0.0000348898,
"gnomad_genomes_af": 0.0000262784,
"gnomad_exomes_ac": 51,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7214623093605042,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.109,
"revel_prediction": "Benign",
"alphamissense_score": 0.6978,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.124,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000261654.10",
"gene_symbol": "ADGRD1",
"hgnc_id": 19893,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2273C>T",
"hgvs_p": "p.Thr758Ile"
}
],
"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
}