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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: 3-157413999-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=157413999&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 157413999,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000362010.7",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEPH1",
"gene_hgnc_id": 25735,
"hgvs_c": "c.788T>G",
"hgvs_p": "p.Val263Gly",
"transcript": "NM_001167912.2",
"protein_id": "NP_001161384.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 833,
"cds_start": 788,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 1085,
"cdna_end": null,
"cdna_length": 4191,
"mane_select": "ENST00000362010.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEPH1",
"gene_hgnc_id": 25735,
"hgvs_c": "c.788T>G",
"hgvs_p": "p.Val263Gly",
"transcript": "ENST00000362010.7",
"protein_id": "ENSP00000354919.2",
"transcript_support_level": 1,
"aa_start": 263,
"aa_end": null,
"aa_length": 833,
"cds_start": 788,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 1085,
"cdna_end": null,
"cdna_length": 4191,
"mane_select": "NM_001167912.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEPH1",
"gene_hgnc_id": 25735,
"hgvs_c": "c.788T>G",
"hgvs_p": "p.Val263Gly",
"transcript": "ENST00000392833.6",
"protein_id": "ENSP00000376578.2",
"transcript_support_level": 1,
"aa_start": 263,
"aa_end": null,
"aa_length": 788,
"cds_start": 788,
"cds_end": null,
"cds_length": 2367,
"cdna_start": 1008,
"cdna_end": null,
"cdna_length": 3979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEPH1",
"gene_hgnc_id": 25735,
"hgvs_c": "c.788T>G",
"hgvs_p": "p.Val263Gly",
"transcript": "NM_024621.2",
"protein_id": "NP_078897.2",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 833,
"cds_start": 788,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 1207,
"cdna_end": null,
"cdna_length": 4313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEPH1",
"gene_hgnc_id": 25735,
"hgvs_c": "c.788T>G",
"hgvs_p": "p.Val263Gly",
"transcript": "ENST00000392832.6",
"protein_id": "ENSP00000376577.2",
"transcript_support_level": 2,
"aa_start": 263,
"aa_end": null,
"aa_length": 833,
"cds_start": 788,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 1105,
"cdna_end": null,
"cdna_length": 3044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEPH1",
"gene_hgnc_id": 25735,
"hgvs_c": "c.788T>G",
"hgvs_p": "p.Val263Gly",
"transcript": "NM_001167911.2",
"protein_id": "NP_001161383.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 788,
"cds_start": 788,
"cds_end": null,
"cds_length": 2367,
"cdna_start": 1085,
"cdna_end": null,
"cdna_length": 4056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEPH1",
"gene_hgnc_id": 25735,
"hgvs_c": "c.821T>G",
"hgvs_p": "p.Val274Gly",
"transcript": "XM_011513134.3",
"protein_id": "XP_011511436.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 844,
"cds_start": 821,
"cds_end": null,
"cds_length": 2535,
"cdna_start": 890,
"cdna_end": null,
"cdna_length": 3996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEPH1",
"gene_hgnc_id": 25735,
"hgvs_c": "c.788T>G",
"hgvs_p": "p.Val263Gly",
"transcript": "XM_024453746.2",
"protein_id": "XP_024309514.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 833,
"cds_start": 788,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 1347,
"cdna_end": null,
"cdna_length": 4453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEPH1",
"gene_hgnc_id": 25735,
"hgvs_c": "c.788T>G",
"hgvs_p": "p.Val263Gly",
"transcript": "XM_024453747.2",
"protein_id": "XP_024309515.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 833,
"cds_start": 788,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 4448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEPH1",
"gene_hgnc_id": 25735,
"hgvs_c": "c.788T>G",
"hgvs_p": "p.Val263Gly",
"transcript": "XM_024453748.2",
"protein_id": "XP_024309516.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 833,
"cds_start": 788,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 1080,
"cdna_end": null,
"cdna_length": 4186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEPH1",
"gene_hgnc_id": 25735,
"hgvs_c": "c.653T>G",
"hgvs_p": "p.Val218Gly",
"transcript": "XM_011513135.3",
"protein_id": "XP_011511437.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 788,
"cds_start": 653,
"cds_end": null,
"cds_length": 2367,
"cdna_start": 755,
"cdna_end": null,
"cdna_length": 3861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEPH1",
"gene_hgnc_id": 25735,
"hgvs_c": "c.788T>G",
"hgvs_p": "p.Val263Gly",
"transcript": "XM_047448921.1",
"protein_id": "XP_047304877.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 788,
"cds_start": 788,
"cds_end": null,
"cds_length": 2367,
"cdna_start": 1347,
"cdna_end": null,
"cdna_length": 4318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEPH1",
"gene_hgnc_id": 25735,
"hgvs_c": "c.788T>G",
"hgvs_p": "p.Val263Gly",
"transcript": "XM_047448922.1",
"protein_id": "XP_047304878.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 788,
"cds_start": 788,
"cds_end": null,
"cds_length": 2367,
"cdna_start": 1080,
"cdna_end": null,
"cdna_length": 4051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEPH1",
"gene_hgnc_id": 25735,
"hgvs_c": "c.452T>G",
"hgvs_p": "p.Val151Gly",
"transcript": "XM_047448923.1",
"protein_id": "XP_047304879.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 721,
"cds_start": 452,
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"cdna_start": 1051,
"cdna_end": null,
"cdna_length": 4157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEPH1",
"gene_hgnc_id": 25735,
"hgvs_c": "c.452T>G",
"hgvs_p": "p.Val151Gly",
"transcript": "XM_047448924.1",
"protein_id": "XP_047304880.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 721,
"cds_start": 452,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 863,
"cdna_end": null,
"cdna_length": 3969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEPH1",
"gene_hgnc_id": 25735,
"hgvs_c": "c.452T>G",
"hgvs_p": "p.Val151Gly",
"transcript": "XM_047448925.1",
"protein_id": "XP_047304881.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 721,
"cds_start": 452,
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"cdna_start": 725,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEPH1",
"gene_hgnc_id": 25735,
"hgvs_c": "c.452T>G",
"hgvs_p": "p.Val151Gly",
"transcript": "XM_047448926.1",
"protein_id": "XP_047304882.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 721,
"cds_start": 452,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 822,
"cdna_end": null,
"cdna_length": 3928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEPH1",
"gene_hgnc_id": 25735,
"hgvs_c": "c.452T>G",
"hgvs_p": "p.Val151Gly",
"transcript": "XM_047448927.1",
"protein_id": "XP_047304883.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 721,
"cds_start": 452,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 3891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEPH1",
"gene_hgnc_id": 25735,
"hgvs_c": "c.788T>G",
"hgvs_p": "p.Val263Gly",
"transcript": "XM_047448928.1",
"protein_id": "XP_047304884.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 579,
"cds_start": 788,
"cds_end": null,
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"cdna_start": 1347,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEPH1",
"gene_hgnc_id": 25735,
"hgvs_c": "c.788T>G",
"hgvs_p": "p.Val263Gly",
"transcript": "XM_047448929.1",
"protein_id": "XP_047304885.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 302,
"cds_start": 788,
"cds_end": null,
"cds_length": 909,
"cdna_start": 1085,
"cdna_end": null,
"cdna_length": 2649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEPH1",
"gene_hgnc_id": 25735,
"hgvs_c": "c.788T>G",
"hgvs_p": "p.Val263Gly",
"transcript": "XM_047448930.1",
"protein_id": "XP_047304886.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 302,
"cds_start": 788,
"cds_end": null,
"cds_length": 909,
"cdna_start": 1347,
"cdna_end": null,
"cdna_length": 2911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEPH1",
"gene_hgnc_id": 25735,
"hgvs_c": "n.341T>G",
"hgvs_p": null,
"transcript": "ENST00000469007.1",
"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": 699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VEPH1",
"gene_hgnc_id": 25735,
"hgvs_c": "n.330T>G",
"hgvs_p": null,
"transcript": "ENST00000482685.5",
"protein_id": null,
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}
],
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"computational_score_selected": 0.004198402166366577,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.055,
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"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000362010.7",
"gene_symbol": "VEPH1",
"hgnc_id": 25735,
"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.788T>G",
"hgvs_p": "p.Val263Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}