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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: 13-30462666-CT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=30462666&ref=CT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 30462666,
"ref": "CT",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_002128.7",
"consequences": [
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGB1",
"gene_hgnc_id": 4983,
"hgvs_c": "c.342delA",
"hgvs_p": "p.Gly115fs",
"transcript": "NM_002128.7",
"protein_id": "NP_002119.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 215,
"cds_start": 342,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000341423.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002128.7"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGB1",
"gene_hgnc_id": 4983,
"hgvs_c": "c.342delA",
"hgvs_p": "p.Gly115fs",
"transcript": "ENST00000341423.10",
"protein_id": "ENSP00000345347.5",
"transcript_support_level": 1,
"aa_start": 114,
"aa_end": null,
"aa_length": 215,
"cds_start": 342,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002128.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341423.10"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGB1",
"gene_hgnc_id": 4983,
"hgvs_c": "c.342delA",
"hgvs_p": "p.Gly115fs",
"transcript": "ENST00000399489.5",
"protein_id": "ENSP00000382412.1",
"transcript_support_level": 1,
"aa_start": 114,
"aa_end": null,
"aa_length": 158,
"cds_start": 342,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399489.5"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGB1",
"gene_hgnc_id": 4983,
"hgvs_c": "c.342delA",
"hgvs_p": "p.Gly115fs",
"transcript": "ENST00000927783.1",
"protein_id": "ENSP00000597842.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 218,
"cds_start": 342,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927783.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGB1",
"gene_hgnc_id": 4983,
"hgvs_c": "c.342delA",
"hgvs_p": "p.Gly115fs",
"transcript": "NM_001313892.2",
"protein_id": "NP_001300821.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 215,
"cds_start": 342,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001313892.2"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGB1",
"gene_hgnc_id": 4983,
"hgvs_c": "c.342delA",
"hgvs_p": "p.Gly115fs",
"transcript": "NM_001313893.1",
"protein_id": "NP_001300822.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 215,
"cds_start": 342,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001313893.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGB1",
"gene_hgnc_id": 4983,
"hgvs_c": "c.342delA",
"hgvs_p": "p.Gly115fs",
"transcript": "NM_001370340.1",
"protein_id": "NP_001357269.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 215,
"cds_start": 342,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370340.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGB1",
"gene_hgnc_id": 4983,
"hgvs_c": "c.342delA",
"hgvs_p": "p.Gly115fs",
"transcript": "NM_001370341.1",
"protein_id": "NP_001357270.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 215,
"cds_start": 342,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370341.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGB1",
"gene_hgnc_id": 4983,
"hgvs_c": "c.342delA",
"hgvs_p": "p.Gly115fs",
"transcript": "ENST00000339872.8",
"protein_id": "ENSP00000343040.4",
"transcript_support_level": 2,
"aa_start": 114,
"aa_end": null,
"aa_length": 215,
"cds_start": 342,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339872.8"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGB1",
"gene_hgnc_id": 4983,
"hgvs_c": "c.342delA",
"hgvs_p": "p.Gly115fs",
"transcript": "ENST00000399494.5",
"protein_id": "ENSP00000382417.1",
"transcript_support_level": 2,
"aa_start": 114,
"aa_end": null,
"aa_length": 215,
"cds_start": 342,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399494.5"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGB1",
"gene_hgnc_id": 4983,
"hgvs_c": "c.342delA",
"hgvs_p": "p.Gly115fs",
"transcript": "ENST00000405805.5",
"protein_id": "ENSP00000384678.1",
"transcript_support_level": 2,
"aa_start": 114,
"aa_end": null,
"aa_length": 215,
"cds_start": 342,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405805.5"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGB1",
"gene_hgnc_id": 4983,
"hgvs_c": "c.342delA",
"hgvs_p": "p.Gly115fs",
"transcript": "ENST00000897840.1",
"protein_id": "ENSP00000567899.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 215,
"cds_start": 342,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897840.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGB1",
"gene_hgnc_id": 4983,
"hgvs_c": "c.342delA",
"hgvs_p": "p.Gly115fs",
"transcript": "ENST00000897841.1",
"protein_id": "ENSP00000567900.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 215,
"cds_start": 342,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897841.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGB1",
"gene_hgnc_id": 4983,
"hgvs_c": "c.342delA",
"hgvs_p": "p.Gly115fs",
"transcript": "ENST00000897842.1",
"protein_id": "ENSP00000567901.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 215,
"cds_start": 342,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897842.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGB1",
"gene_hgnc_id": 4983,
"hgvs_c": "c.342delA",
"hgvs_p": "p.Gly115fs",
"transcript": "ENST00000897843.1",
"protein_id": "ENSP00000567902.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 215,
"cds_start": 342,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897843.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGB1",
"gene_hgnc_id": 4983,
"hgvs_c": "c.342delA",
"hgvs_p": "p.Gly115fs",
"transcript": "ENST00000897844.1",
"protein_id": "ENSP00000567903.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 215,
"cds_start": 342,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897844.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGB1",
"gene_hgnc_id": 4983,
"hgvs_c": "c.342delA",
"hgvs_p": "p.Gly115fs",
"transcript": "ENST00000897845.1",
"protein_id": "ENSP00000567904.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 215,
"cds_start": 342,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897845.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGB1",
"gene_hgnc_id": 4983,
"hgvs_c": "c.342delA",
"hgvs_p": "p.Gly115fs",
"transcript": "ENST00000897846.1",
"protein_id": "ENSP00000567905.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 215,
"cds_start": 342,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897846.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGB1",
"gene_hgnc_id": 4983,
"hgvs_c": "c.342delA",
"hgvs_p": "p.Gly115fs",
"transcript": "ENST00000897847.1",
"protein_id": "ENSP00000567906.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 215,
"cds_start": 342,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897847.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGB1",
"gene_hgnc_id": 4983,
"hgvs_c": "c.342delA",
"hgvs_p": "p.Gly115fs",
"transcript": "ENST00000897848.1",
"protein_id": "ENSP00000567907.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 215,
"cds_start": 342,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897848.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGB1",
"gene_hgnc_id": 4983,
"hgvs_c": "c.342delA",
"hgvs_p": "p.Gly115fs",
"transcript": "ENST00000897849.1",
"protein_id": "ENSP00000567908.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 215,
"cds_start": 342,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897849.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGB1",
"gene_hgnc_id": 4983,
"hgvs_c": "c.342delA",
"hgvs_p": "p.Gly115fs",
"transcript": "ENST00000897850.1",
"protein_id": "ENSP00000567909.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 215,
"cds_start": 342,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897850.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
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{
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},
{
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},
{
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],
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},
{
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},
{
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],
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},
{
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],
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"biotype": "pseudogene",
"feature": "ENST00000819190.1"
}
],
"gene_symbol": "HMGB1",
"gene_hgnc_id": 4983,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 3.204,
"phylop100way_prediction": "Benign",
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PM2"
],
"verdict": "Pathogenic",
"transcript": "NM_002128.7",
"gene_symbol": "HMGB1",
"hgnc_id": 4983,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.342delA",
"hgvs_p": "p.Gly115fs"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000819191.1",
"gene_symbol": "ENSG00000285840",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.524delT",
"hgvs_p": null
}
],
"clinvar_disease": "Neurodevelopmental disorder",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Neurodevelopmental disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}