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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: 1-31653980-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=31653980&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 31653980,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001856.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 69,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.4421G>T",
"hgvs_p": "p.Arg1474Leu",
"transcript": "NM_001856.4",
"protein_id": "NP_001847.3",
"transcript_support_level": null,
"aa_start": 1474,
"aa_end": null,
"aa_length": 1604,
"cds_start": 4421,
"cds_end": null,
"cds_length": 4815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373672.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001856.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 69,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.4421G>T",
"hgvs_p": "p.Arg1474Leu",
"transcript": "ENST00000373672.8",
"protein_id": "ENSP00000362776.3",
"transcript_support_level": 5,
"aa_start": 1474,
"aa_end": null,
"aa_length": 1604,
"cds_start": 4421,
"cds_end": null,
"cds_length": 4815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001856.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373672.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "n.1966G>T",
"hgvs_p": null,
"transcript": "ENST00000488897.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000488897.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 68,
"exon_rank_end": null,
"exon_count": 70,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.4376G>T",
"hgvs_p": "p.Arg1459Leu",
"transcript": "ENST00000873809.1",
"protein_id": "ENSP00000543868.1",
"transcript_support_level": null,
"aa_start": 1459,
"aa_end": null,
"aa_length": 1589,
"cds_start": 4376,
"cds_end": null,
"cds_length": 4770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873809.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 66,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.4241G>T",
"hgvs_p": "p.Arg1414Leu",
"transcript": "ENST00000933935.1",
"protein_id": "ENSP00000603994.1",
"transcript_support_level": null,
"aa_start": 1414,
"aa_end": null,
"aa_length": 1544,
"cds_start": 4241,
"cds_end": null,
"cds_length": 4635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933935.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 63,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.4097G>T",
"hgvs_p": "p.Arg1366Leu",
"transcript": "ENST00000873810.1",
"protein_id": "ENSP00000543869.1",
"transcript_support_level": null,
"aa_start": 1366,
"aa_end": null,
"aa_length": 1496,
"cds_start": 4097,
"cds_end": null,
"cds_length": 4491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873810.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 68,
"exon_rank_end": null,
"exon_count": 70,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.4388G>T",
"hgvs_p": "p.Arg1463Leu",
"transcript": "XM_017000338.2",
"protein_id": "XP_016855827.1",
"transcript_support_level": null,
"aa_start": 1463,
"aa_end": null,
"aa_length": 1593,
"cds_start": 4388,
"cds_end": null,
"cds_length": 4782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000338.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 68,
"exon_rank_end": null,
"exon_count": 70,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.4385G>T",
"hgvs_p": "p.Arg1462Leu",
"transcript": "XM_017000339.2",
"protein_id": "XP_016855828.1",
"transcript_support_level": null,
"aa_start": 1462,
"aa_end": null,
"aa_length": 1592,
"cds_start": 4385,
"cds_end": null,
"cds_length": 4779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000339.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 68,
"exon_rank_end": null,
"exon_count": 70,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.4376G>T",
"hgvs_p": "p.Arg1459Leu",
"transcript": "XM_011540722.2",
"protein_id": "XP_011539024.1",
"transcript_support_level": null,
"aa_start": 1459,
"aa_end": null,
"aa_length": 1589,
"cds_start": 4376,
"cds_end": null,
"cds_length": 4770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540722.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 68,
"exon_rank_end": null,
"exon_count": 70,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.4373G>T",
"hgvs_p": "p.Arg1458Leu",
"transcript": "XM_005270481.2",
"protein_id": "XP_005270538.1",
"transcript_support_level": null,
"aa_start": 1458,
"aa_end": null,
"aa_length": 1588,
"cds_start": 4373,
"cds_end": null,
"cds_length": 4767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005270481.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 67,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.4328G>T",
"hgvs_p": "p.Arg1443Leu",
"transcript": "XM_011540723.2",
"protein_id": "XP_011539025.1",
"transcript_support_level": null,
"aa_start": 1443,
"aa_end": null,
"aa_length": 1573,
"cds_start": 4328,
"cds_end": null,
"cds_length": 4722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540723.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 68,
"exon_rank_end": null,
"exon_count": 70,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.4298G>T",
"hgvs_p": "p.Arg1433Leu",
"transcript": "XM_011540724.2",
"protein_id": "XP_011539026.1",
"transcript_support_level": null,
"aa_start": 1433,
"aa_end": null,
"aa_length": 1563,
"cds_start": 4298,
"cds_end": null,
"cds_length": 4692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540724.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 66,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.4292G>T",
"hgvs_p": "p.Arg1431Leu",
"transcript": "XM_047446431.1",
"protein_id": "XP_047302387.1",
"transcript_support_level": null,
"aa_start": 1431,
"aa_end": null,
"aa_length": 1561,
"cds_start": 4292,
"cds_end": null,
"cds_length": 4686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446431.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 67,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.4253G>T",
"hgvs_p": "p.Arg1418Leu",
"transcript": "XM_047446432.1",
"protein_id": "XP_047302388.1",
"transcript_support_level": null,
"aa_start": 1418,
"aa_end": null,
"aa_length": 1548,
"cds_start": 4253,
"cds_end": null,
"cds_length": 4647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446432.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 65,
"exon_rank_end": null,
"exon_count": 67,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.4169G>T",
"hgvs_p": "p.Arg1390Leu",
"transcript": "XM_047446435.1",
"protein_id": "XP_047302391.1",
"transcript_support_level": null,
"aa_start": 1390,
"aa_end": null,
"aa_length": 1520,
"cds_start": 4169,
"cds_end": null,
"cds_length": 4563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446435.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 65,
"exon_rank_end": null,
"exon_count": 67,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.3860G>T",
"hgvs_p": "p.Arg1287Leu",
"transcript": "XM_047446439.1",
"protein_id": "XP_047302395.1",
"transcript_support_level": null,
"aa_start": 1287,
"aa_end": null,
"aa_length": 1417,
"cds_start": 3860,
"cds_end": null,
"cds_length": 4254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446439.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 59,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.3515G>T",
"hgvs_p": "p.Arg1172Leu",
"transcript": "XM_011540727.3",
"protein_id": "XP_011539029.1",
"transcript_support_level": null,
"aa_start": 1172,
"aa_end": null,
"aa_length": 1302,
"cds_start": 3515,
"cds_end": null,
"cds_length": 3909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540727.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.2876G>T",
"hgvs_p": "p.Arg959Leu",
"transcript": "XM_011540728.3",
"protein_id": "XP_011539030.1",
"transcript_support_level": null,
"aa_start": 959,
"aa_end": null,
"aa_length": 1089,
"cds_start": 2876,
"cds_end": null,
"cds_length": 3270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540728.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.2840G>T",
"hgvs_p": "p.Arg947Leu",
"transcript": "XM_017000340.3",
"protein_id": "XP_016855829.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 1077,
"cds_start": 2840,
"cds_end": null,
"cds_length": 3234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000340.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.2693G>T",
"hgvs_p": "p.Arg898Leu",
"transcript": "XM_017000341.2",
"protein_id": "XP_016855830.1",
"transcript_support_level": null,
"aa_start": 898,
"aa_end": null,
"aa_length": 1028,
"cds_start": 2693,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000341.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "n.666G>T",
"hgvs_p": null,
"transcript": "ENST00000461217.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000461217.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "n.2320G>T",
"hgvs_p": null,
"transcript": "ENST00000488128.6",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
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],
"gene_symbol": "COL16A1",
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"dbsnp": "rs148785521",
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"hom_count_reference_population": 0,
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"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7193179726600647,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.565,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4658,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.09,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.674,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
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"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001856.4",
"gene_symbol": "COL16A1",
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"effects": [
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"inheritance_mode": "AR",
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"hgvs_p": "p.Arg1474Leu"
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{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NR_184311.1",
"gene_symbol": "PEF1-AS1",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.437-1972C>A",
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}
],
"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
}