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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: 1-31653644-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=31653644&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 31653644,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001856.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 70,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.4567A>G",
"hgvs_p": "p.Ile1523Val",
"transcript": "NM_001856.4",
"protein_id": "NP_001847.3",
"transcript_support_level": null,
"aa_start": 1523,
"aa_end": null,
"aa_length": 1604,
"cds_start": 4567,
"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": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 70,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.4567A>G",
"hgvs_p": "p.Ile1523Val",
"transcript": "ENST00000373672.8",
"protein_id": "ENSP00000362776.3",
"transcript_support_level": 5,
"aa_start": 1523,
"aa_end": null,
"aa_length": 1604,
"cds_start": 4567,
"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": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "n.2112A>G",
"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": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 69,
"exon_rank_end": null,
"exon_count": 70,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.4522A>G",
"hgvs_p": "p.Ile1508Val",
"transcript": "ENST00000873809.1",
"protein_id": "ENSP00000543868.1",
"transcript_support_level": null,
"aa_start": 1508,
"aa_end": null,
"aa_length": 1589,
"cds_start": 4522,
"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": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 67,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.4387A>G",
"hgvs_p": "p.Ile1463Val",
"transcript": "ENST00000933935.1",
"protein_id": "ENSP00000603994.1",
"transcript_support_level": null,
"aa_start": 1463,
"aa_end": null,
"aa_length": 1544,
"cds_start": 4387,
"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": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 64,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.4243A>G",
"hgvs_p": "p.Ile1415Val",
"transcript": "ENST00000873810.1",
"protein_id": "ENSP00000543869.1",
"transcript_support_level": null,
"aa_start": 1415,
"aa_end": null,
"aa_length": 1496,
"cds_start": 4243,
"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": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 69,
"exon_rank_end": null,
"exon_count": 70,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.4534A>G",
"hgvs_p": "p.Ile1512Val",
"transcript": "XM_017000338.2",
"protein_id": "XP_016855827.1",
"transcript_support_level": null,
"aa_start": 1512,
"aa_end": null,
"aa_length": 1593,
"cds_start": 4534,
"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": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 69,
"exon_rank_end": null,
"exon_count": 70,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.4531A>G",
"hgvs_p": "p.Ile1511Val",
"transcript": "XM_017000339.2",
"protein_id": "XP_016855828.1",
"transcript_support_level": null,
"aa_start": 1511,
"aa_end": null,
"aa_length": 1592,
"cds_start": 4531,
"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": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 69,
"exon_rank_end": null,
"exon_count": 70,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.4522A>G",
"hgvs_p": "p.Ile1508Val",
"transcript": "XM_011540722.2",
"protein_id": "XP_011539024.1",
"transcript_support_level": null,
"aa_start": 1508,
"aa_end": null,
"aa_length": 1589,
"cds_start": 4522,
"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": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 69,
"exon_rank_end": null,
"exon_count": 70,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.4519A>G",
"hgvs_p": "p.Ile1507Val",
"transcript": "XM_005270481.2",
"protein_id": "XP_005270538.1",
"transcript_support_level": null,
"aa_start": 1507,
"aa_end": null,
"aa_length": 1588,
"cds_start": 4519,
"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": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 68,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.4474A>G",
"hgvs_p": "p.Ile1492Val",
"transcript": "XM_011540723.2",
"protein_id": "XP_011539025.1",
"transcript_support_level": null,
"aa_start": 1492,
"aa_end": null,
"aa_length": 1573,
"cds_start": 4474,
"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": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 69,
"exon_rank_end": null,
"exon_count": 70,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.4444A>G",
"hgvs_p": "p.Ile1482Val",
"transcript": "XM_011540724.2",
"protein_id": "XP_011539026.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 1563,
"cds_start": 4444,
"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": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 67,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.4438A>G",
"hgvs_p": "p.Ile1480Val",
"transcript": "XM_047446431.1",
"protein_id": "XP_047302387.1",
"transcript_support_level": null,
"aa_start": 1480,
"aa_end": null,
"aa_length": 1561,
"cds_start": 4438,
"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": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 68,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.4399A>G",
"hgvs_p": "p.Ile1467Val",
"transcript": "XM_047446432.1",
"protein_id": "XP_047302388.1",
"transcript_support_level": null,
"aa_start": 1467,
"aa_end": null,
"aa_length": 1548,
"cds_start": 4399,
"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": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 66,
"exon_rank_end": null,
"exon_count": 67,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.4315A>G",
"hgvs_p": "p.Ile1439Val",
"transcript": "XM_047446435.1",
"protein_id": "XP_047302391.1",
"transcript_support_level": null,
"aa_start": 1439,
"aa_end": null,
"aa_length": 1520,
"cds_start": 4315,
"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": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 66,
"exon_rank_end": null,
"exon_count": 67,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.4006A>G",
"hgvs_p": "p.Ile1336Val",
"transcript": "XM_047446439.1",
"protein_id": "XP_047302395.1",
"transcript_support_level": null,
"aa_start": 1336,
"aa_end": null,
"aa_length": 1417,
"cds_start": 4006,
"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": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 60,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.3661A>G",
"hgvs_p": "p.Ile1221Val",
"transcript": "XM_011540727.3",
"protein_id": "XP_011539029.1",
"transcript_support_level": null,
"aa_start": 1221,
"aa_end": null,
"aa_length": 1302,
"cds_start": 3661,
"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": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.3022A>G",
"hgvs_p": "p.Ile1008Val",
"transcript": "XM_011540728.3",
"protein_id": "XP_011539030.1",
"transcript_support_level": null,
"aa_start": 1008,
"aa_end": null,
"aa_length": 1089,
"cds_start": 3022,
"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": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.2986A>G",
"hgvs_p": "p.Ile996Val",
"transcript": "XM_017000340.3",
"protein_id": "XP_016855829.1",
"transcript_support_level": null,
"aa_start": 996,
"aa_end": null,
"aa_length": 1077,
"cds_start": 2986,
"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": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.2839A>G",
"hgvs_p": "p.Ile947Val",
"transcript": "XM_017000341.2",
"protein_id": "XP_016855830.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 1028,
"cds_start": 2839,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "n.812A>G",
"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": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "n.2466A>G",
"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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{
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{
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{
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{
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{
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],
"gene_symbol": "COL16A1",
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"dbsnp": "rs781577747",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 22,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16790613532066345,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.228,
"revel_prediction": "Benign",
"alphamissense_score": 0.0738,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.626,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001856.4",
"gene_symbol": "COL16A1",
"hgnc_id": 2193,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4567A>G",
"hgvs_p": "p.Ile1523Val"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000820355.1",
"gene_symbol": "PEF1-AS1",
"hgnc_id": 40154,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.498T>C",
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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
}