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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: 15-49170348-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=49170348&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 49170348,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002044.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Arg9His",
"transcript": "NM_002044.4",
"protein_id": "NP_002035.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 458,
"cds_start": 26,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 102,
"cdna_end": null,
"cdna_length": 5176,
"mane_select": "ENST00000560031.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Arg9His",
"transcript": "ENST00000560031.6",
"protein_id": "ENSP00000453129.1",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 458,
"cds_start": 26,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 102,
"cdna_end": null,
"cdna_length": 5176,
"mane_select": "NM_002044.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.20+14332G>A",
"hgvs_p": null,
"transcript": "ENST00000327171.7",
"protein_id": "ENSP00000316632.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 447,
"cds_start": -4,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Arg9His",
"transcript": "XM_006720461.5",
"protein_id": "XP_006720524.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 458,
"cds_start": 26,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 102,
"cdna_end": null,
"cdna_length": 2564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "n.-30G>A",
"hgvs_p": null,
"transcript": "ENST00000558956.5",
"protein_id": "ENSP00000452679.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "n.100G>A",
"hgvs_p": null,
"transcript": "ENST00000559095.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "n.26G>A",
"hgvs_p": null,
"transcript": "ENST00000559208.5",
"protein_id": "ENSP00000453844.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "n.-30G>A",
"hgvs_p": null,
"transcript": "ENST00000559423.5",
"protein_id": "ENSP00000453652.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "n.-30G>A",
"hgvs_p": null,
"transcript": "ENST00000560119.5",
"protein_id": "ENSP00000453909.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "n.102G>A",
"hgvs_p": null,
"transcript": "NR_147895.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.-177G>A",
"hgvs_p": null,
"transcript": "NM_001289030.2",
"protein_id": "NP_001275959.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 434,
"cds_start": -4,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.-30G>A",
"hgvs_p": null,
"transcript": "NM_001289031.1",
"protein_id": "NP_001275960.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 434,
"cds_start": -4,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
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"cdna_length": 3313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.-30G>A",
"hgvs_p": null,
"transcript": "ENST00000396509.6",
"protein_id": "ENSP00000379766.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 434,
"cds_start": -4,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
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"cdna_length": 1834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.-177G>A",
"hgvs_p": null,
"transcript": "ENST00000544523.5",
"protein_id": "ENSP00000440312.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 434,
"cds_start": -4,
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"cdna_start": null,
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},
{
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"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
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"exon_count": 12,
"intron_rank": null,
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"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.-490G>A",
"hgvs_p": null,
"transcript": "NM_001352047.1",
"protein_id": "NP_001338976.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 329,
"cds_start": -4,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
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"cdna_length": 2923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.-30G>A",
"hgvs_p": null,
"transcript": "ENST00000560138.5",
"protein_id": "ENSP00000452614.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.-238G>A",
"hgvs_p": null,
"transcript": "ENST00000558145.5",
"protein_id": "ENSP00000454123.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 79,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "n.-30G>A",
"hgvs_p": null,
"transcript": "ENST00000558956.5",
"protein_id": "ENSP00000452679.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_length": 641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "n.-30G>A",
"hgvs_p": null,
"transcript": "ENST00000559423.5",
"protein_id": "ENSP00000453652.1",
"transcript_support_level": 5,
"aa_start": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
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"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "n.-30G>A",
"hgvs_p": null,
"transcript": "ENST00000560119.5",
"protein_id": "ENSP00000453909.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.-30G>A",
"hgvs_p": null,
"transcript": "XM_047432347.1",
"protein_id": "XP_047288303.1",
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.-30G>A",
"hgvs_p": null,
"transcript": "XM_024449892.2",
"protein_id": "XP_024305660.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 438,
"cds_start": -4,
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"cds_length": 1317,
"cdna_start": null,
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"cdna_length": 1888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.-30G>A",
"hgvs_p": null,
"transcript": "XM_047432350.1",
"protein_id": "XP_047288306.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 434,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
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}
],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.036,
"revel_prediction": "Benign",
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"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.831,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
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"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002044.4",
"gene_symbol": "GALK2",
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"effects": [
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],
"inheritance_mode": "AR",
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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
}