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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: 6-114057943-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=114057943&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 114057943,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_153612.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HS3ST5",
"gene_hgnc_id": 19419,
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Ala119Thr",
"transcript": "NM_153612.4",
"protein_id": "NP_705840.2",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 346,
"cds_start": 355,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000312719.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153612.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HS3ST5",
"gene_hgnc_id": 19419,
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Ala119Thr",
"transcript": "ENST00000312719.10",
"protein_id": "ENSP00000427888.1",
"transcript_support_level": 2,
"aa_start": 119,
"aa_end": null,
"aa_length": 346,
"cds_start": 355,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_153612.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000312719.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "HDAC2-AS2",
"gene_hgnc_id": 43590,
"hgvs_c": "n.1311-30994C>T",
"hgvs_p": null,
"transcript": "ENST00000519104.5",
"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": "pseudogene",
"feature": "ENST00000519104.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HS3ST5",
"gene_hgnc_id": 19419,
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Ala119Thr",
"transcript": "NM_001387039.1",
"protein_id": "NP_001373968.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 346,
"cds_start": 355,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387039.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HS3ST5",
"gene_hgnc_id": 19419,
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Ala119Thr",
"transcript": "NM_001387040.1",
"protein_id": "NP_001373969.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 346,
"cds_start": 355,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387040.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HS3ST5",
"gene_hgnc_id": 19419,
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Ala119Thr",
"transcript": "NM_001387041.1",
"protein_id": "NP_001373970.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 346,
"cds_start": 355,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387041.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HS3ST5",
"gene_hgnc_id": 19419,
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Ala119Thr",
"transcript": "NM_001387042.1",
"protein_id": "NP_001373971.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 346,
"cds_start": 355,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387042.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HS3ST5",
"gene_hgnc_id": 19419,
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Ala119Thr",
"transcript": "NM_001387043.1",
"protein_id": "NP_001373972.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 346,
"cds_start": 355,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387043.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HS3ST5",
"gene_hgnc_id": 19419,
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Ala119Thr",
"transcript": "NM_001387044.1",
"protein_id": "NP_001373973.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 346,
"cds_start": 355,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387044.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HS3ST5",
"gene_hgnc_id": 19419,
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Ala119Thr",
"transcript": "NM_001387045.1",
"protein_id": "NP_001373974.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 346,
"cds_start": 355,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387045.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HS3ST5",
"gene_hgnc_id": 19419,
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Ala119Thr",
"transcript": "NM_001387046.1",
"protein_id": "NP_001373975.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 346,
"cds_start": 355,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387046.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HS3ST5",
"gene_hgnc_id": 19419,
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Ala119Thr",
"transcript": "NM_001387047.1",
"protein_id": "NP_001373976.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 346,
"cds_start": 355,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387047.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HS3ST5",
"gene_hgnc_id": 19419,
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Ala119Thr",
"transcript": "ENST00000900060.1",
"protein_id": "ENSP00000570119.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 346,
"cds_start": 355,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900060.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HS3ST5",
"gene_hgnc_id": 19419,
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Ala119Thr",
"transcript": "ENST00000900061.1",
"protein_id": "ENSP00000570120.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 346,
"cds_start": 355,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900061.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HS3ST5",
"gene_hgnc_id": 19419,
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Ala119Thr",
"transcript": "ENST00000900062.1",
"protein_id": "ENSP00000570121.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 346,
"cds_start": 355,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900062.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HS3ST5",
"gene_hgnc_id": 19419,
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Ala119Thr",
"transcript": "ENST00000900063.1",
"protein_id": "ENSP00000570122.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 346,
"cds_start": 355,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900063.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HS3ST5",
"gene_hgnc_id": 19419,
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Ala119Thr",
"transcript": "ENST00000900064.1",
"protein_id": "ENSP00000570123.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 346,
"cds_start": 355,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900064.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HS3ST5",
"gene_hgnc_id": 19419,
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Ala119Thr",
"transcript": "ENST00000920560.1",
"protein_id": "ENSP00000590620.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 346,
"cds_start": 355,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920560.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HS3ST5",
"gene_hgnc_id": 19419,
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Ala119Thr",
"transcript": "ENST00000920563.1",
"protein_id": "ENSP00000590622.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 346,
"cds_start": 355,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920563.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HS3ST5",
"gene_hgnc_id": 19419,
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Ala119Thr",
"transcript": "ENST00000920564.1",
"protein_id": "ENSP00000590623.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 346,
"cds_start": 355,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920564.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HS3ST5",
"gene_hgnc_id": 19419,
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Ala119Thr",
"transcript": "ENST00000920566.1",
"protein_id": "ENSP00000590624.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 346,
"cds_start": 355,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920566.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HS3ST5",
"gene_hgnc_id": 19419,
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Ala119Thr",
"transcript": "ENST00000920567.1",
"protein_id": "ENSP00000590626.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 346,
"cds_start": 355,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"criteria": [
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],
"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AR",
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{
"score": 2,
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],
"verdict": "Uncertain_significance",
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],
"inheritance_mode": "",
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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
}