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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: 2-159324918-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=159324918&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 159324918,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_013450.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.6246A>G",
"hgvs_p": "p.Ala2082Ala",
"transcript": "NM_013450.4",
"protein_id": "NP_038478.2",
"transcript_support_level": null,
"aa_start": 2082,
"aa_end": null,
"aa_length": 2168,
"cds_start": 6246,
"cds_end": null,
"cds_length": 6507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000392783.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013450.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.6246A>G",
"hgvs_p": "p.Ala2082Ala",
"transcript": "ENST00000392783.7",
"protein_id": "ENSP00000376534.2",
"transcript_support_level": 5,
"aa_start": 2082,
"aa_end": null,
"aa_length": 2168,
"cds_start": 6246,
"cds_end": null,
"cds_length": 6507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013450.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392783.7"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.6138A>G",
"hgvs_p": "p.Ala2046Ala",
"transcript": "ENST00000392782.5",
"protein_id": "ENSP00000376533.1",
"transcript_support_level": 1,
"aa_start": 2046,
"aa_end": null,
"aa_length": 2132,
"cds_start": 6138,
"cds_end": null,
"cds_length": 6399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392782.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.6246A>G",
"hgvs_p": "p.Ala2082Ala",
"transcript": "ENST00000911534.1",
"protein_id": "ENSP00000581593.1",
"transcript_support_level": null,
"aa_start": 2082,
"aa_end": null,
"aa_length": 2168,
"cds_start": 6246,
"cds_end": null,
"cds_length": 6507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911534.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.6246A>G",
"hgvs_p": "p.Ala2082Ala",
"transcript": "ENST00000911538.1",
"protein_id": "ENSP00000581597.1",
"transcript_support_level": null,
"aa_start": 2082,
"aa_end": null,
"aa_length": 2168,
"cds_start": 6246,
"cds_end": null,
"cds_length": 6507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911538.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.6138A>G",
"hgvs_p": "p.Ala2046Ala",
"transcript": "ENST00000718451.1",
"protein_id": "ENSP00000520831.1",
"transcript_support_level": null,
"aa_start": 2046,
"aa_end": null,
"aa_length": 2160,
"cds_start": 6138,
"cds_end": null,
"cds_length": 6483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000718451.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.6189A>G",
"hgvs_p": "p.Ala2063Ala",
"transcript": "NM_001329857.2",
"protein_id": "NP_001316786.1",
"transcript_support_level": null,
"aa_start": 2063,
"aa_end": null,
"aa_length": 2149,
"cds_start": 6189,
"cds_end": null,
"cds_length": 6450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329857.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.6171A>G",
"hgvs_p": "p.Ala2057Ala",
"transcript": "NM_001329858.2",
"protein_id": "NP_001316787.1",
"transcript_support_level": null,
"aa_start": 2057,
"aa_end": null,
"aa_length": 2143,
"cds_start": 6171,
"cds_end": null,
"cds_length": 6432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329858.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.6144A>G",
"hgvs_p": "p.Ala2048Ala",
"transcript": "ENST00000911535.1",
"protein_id": "ENSP00000581594.1",
"transcript_support_level": null,
"aa_start": 2048,
"aa_end": null,
"aa_length": 2134,
"cds_start": 6144,
"cds_end": null,
"cds_length": 6405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911535.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.6138A>G",
"hgvs_p": "p.Ala2046Ala",
"transcript": "NM_001289975.1",
"protein_id": "NP_001276904.1",
"transcript_support_level": null,
"aa_start": 2046,
"aa_end": null,
"aa_length": 2132,
"cds_start": 6138,
"cds_end": null,
"cds_length": 6399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289975.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.5850A>G",
"hgvs_p": "p.Ala1950Ala",
"transcript": "ENST00000911537.1",
"protein_id": "ENSP00000581596.1",
"transcript_support_level": null,
"aa_start": 1950,
"aa_end": null,
"aa_length": 2036,
"cds_start": 5850,
"cds_end": null,
"cds_length": 6111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911537.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.5682A>G",
"hgvs_p": "p.Ala1894Ala",
"transcript": "ENST00000911536.1",
"protein_id": "ENSP00000581595.1",
"transcript_support_level": null,
"aa_start": 1894,
"aa_end": null,
"aa_length": 1980,
"cds_start": 5682,
"cds_end": null,
"cds_length": 5943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911536.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.6402A>G",
"hgvs_p": "p.Ala2134Ala",
"transcript": "XM_047444037.1",
"protein_id": "XP_047299993.1",
"transcript_support_level": null,
"aa_start": 2134,
"aa_end": null,
"aa_length": 2248,
"cds_start": 6402,
"cds_end": null,
"cds_length": 6747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444037.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.6384A>G",
"hgvs_p": "p.Ala2128Ala",
"transcript": "XM_005246488.3",
"protein_id": "XP_005246545.2",
"transcript_support_level": null,
"aa_start": 2128,
"aa_end": null,
"aa_length": 2242,
"cds_start": 6384,
"cds_end": null,
"cds_length": 6729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246488.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.6384A>G",
"hgvs_p": "p.Ala2128Ala",
"transcript": "XM_005246489.5",
"protein_id": "XP_005246546.2",
"transcript_support_level": null,
"aa_start": 2128,
"aa_end": null,
"aa_length": 2242,
"cds_start": 6384,
"cds_end": null,
"cds_length": 6729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246489.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.6384A>G",
"hgvs_p": "p.Ala2128Ala",
"transcript": "XM_017003920.2",
"protein_id": "XP_016859409.1",
"transcript_support_level": null,
"aa_start": 2128,
"aa_end": null,
"aa_length": 2242,
"cds_start": 6384,
"cds_end": null,
"cds_length": 6729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003920.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.6384A>G",
"hgvs_p": "p.Ala2128Ala",
"transcript": "XM_047444038.1",
"protein_id": "XP_047299994.1",
"transcript_support_level": null,
"aa_start": 2128,
"aa_end": null,
"aa_length": 2242,
"cds_start": 6384,
"cds_end": null,
"cds_length": 6729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444038.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.6384A>G",
"hgvs_p": "p.Ala2128Ala",
"transcript": "XM_047444039.1",
"protein_id": "XP_047299995.1",
"transcript_support_level": null,
"aa_start": 2128,
"aa_end": null,
"aa_length": 2242,
"cds_start": 6384,
"cds_end": null,
"cds_length": 6729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444039.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.6384A>G",
"hgvs_p": "p.Ala2128Ala",
"transcript": "XM_047444040.1",
"protein_id": "XP_047299996.1",
"transcript_support_level": null,
"aa_start": 2128,
"aa_end": null,
"aa_length": 2242,
"cds_start": 6384,
"cds_end": null,
"cds_length": 6729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444040.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.6384A>G",
"hgvs_p": "p.Ala2128Ala",
"transcript": "XM_047444041.1",
"protein_id": "XP_047299997.1",
"transcript_support_level": null,
"aa_start": 2128,
"aa_end": null,
"aa_length": 2242,
"cds_start": 6384,
"cds_end": null,
"cds_length": 6729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444041.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.6384A>G",
"hgvs_p": "p.Ala2128Ala",
"transcript": "XM_047444042.1",
"protein_id": "XP_047299998.1",
"transcript_support_level": null,
"aa_start": 2128,
"aa_end": null,
"aa_length": 2242,
"cds_start": 6384,
"cds_end": null,
"cds_length": 6729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444042.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.6384A>G",
"hgvs_p": "p.Ala2128Ala",
"transcript": "XM_047444043.1",
"protein_id": "XP_047299999.1",
"transcript_support_level": null,
"aa_start": 2128,
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_score": -13,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -13,
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"criteria": [
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"BP6_Moderate",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
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],
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}