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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: 3-171605341-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=171605341&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "PLD1",
"hgnc_id": 9067,
"hgvs_c": "c.2958G>A",
"hgvs_p": "p.Val986Val",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_002662.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.25,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.25,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1074,
"aa_ref": "V",
"aa_start": 986,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6015,
"cdna_start": 3074,
"cds_end": null,
"cds_length": 3225,
"cds_start": 2958,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_002662.5",
"gene_hgnc_id": 9067,
"gene_symbol": "PLD1",
"hgvs_c": "c.2958G>A",
"hgvs_p": "p.Val986Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000351298.9",
"protein_coding": true,
"protein_id": "NP_002653.1",
"strand": false,
"transcript": "NM_002662.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1074,
"aa_ref": "V",
"aa_start": 986,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6015,
"cdna_start": 3074,
"cds_end": null,
"cds_length": 3225,
"cds_start": 2958,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000351298.9",
"gene_hgnc_id": 9067,
"gene_symbol": "PLD1",
"hgvs_c": "c.2958G>A",
"hgvs_p": "p.Val986Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002662.5",
"protein_coding": true,
"protein_id": "ENSP00000342793.4",
"strand": false,
"transcript": "ENST00000351298.9",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1036,
"aa_ref": "V",
"aa_start": 948,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5855,
"cdna_start": 2915,
"cds_end": null,
"cds_length": 3111,
"cds_start": 2844,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000356327.9",
"gene_hgnc_id": 9067,
"gene_symbol": "PLD1",
"hgvs_c": "c.2844G>A",
"hgvs_p": "p.Val948Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000348681.5",
"strand": false,
"transcript": "ENST00000356327.9",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1074,
"aa_ref": "V",
"aa_start": 986,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5666,
"cdna_start": 3151,
"cds_end": null,
"cds_length": 3225,
"cds_start": 2958,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000959555.1",
"gene_hgnc_id": 9067,
"gene_symbol": "PLD1",
"hgvs_c": "c.2958G>A",
"hgvs_p": "p.Val986Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629614.1",
"strand": false,
"transcript": "ENST00000959555.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1046,
"aa_ref": "V",
"aa_start": 958,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5604,
"cdna_start": 3085,
"cds_end": null,
"cds_length": 3141,
"cds_start": 2874,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000861048.1",
"gene_hgnc_id": 9067,
"gene_symbol": "PLD1",
"hgvs_c": "c.2874G>A",
"hgvs_p": "p.Val958Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531107.1",
"strand": false,
"transcript": "ENST00000861048.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1036,
"aa_ref": "V",
"aa_start": 948,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5901,
"cdna_start": 2960,
"cds_end": null,
"cds_length": 3111,
"cds_start": 2844,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_001130081.3",
"gene_hgnc_id": 9067,
"gene_symbol": "PLD1",
"hgvs_c": "c.2844G>A",
"hgvs_p": "p.Val948Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001123553.1",
"strand": false,
"transcript": "NM_001130081.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1036,
"aa_ref": "V",
"aa_start": 948,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6015,
"cdna_start": 3076,
"cds_end": null,
"cds_length": 3111,
"cds_start": 2844,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000861047.1",
"gene_hgnc_id": 9067,
"gene_symbol": "PLD1",
"hgvs_c": "c.2844G>A",
"hgvs_p": "p.Val948Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531106.1",
"strand": false,
"transcript": "ENST00000861047.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1036,
"aa_ref": "V",
"aa_start": 948,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3912,
"cdna_start": 3368,
"cds_end": null,
"cds_length": 3111,
"cds_start": 2844,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000861051.1",
"gene_hgnc_id": 9067,
"gene_symbol": "PLD1",
"hgvs_c": "c.2844G>A",
"hgvs_p": "p.Val948Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531110.1",
"strand": false,
"transcript": "ENST00000861051.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1036,
"aa_ref": "V",
"aa_start": 948,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3594,
"cdna_start": 3291,
"cds_end": null,
"cds_length": 3111,
"cds_start": 2844,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000861052.1",
"gene_hgnc_id": 9067,
"gene_symbol": "PLD1",
"hgvs_c": "c.2844G>A",
"hgvs_p": "p.Val948Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531111.1",
"strand": false,
"transcript": "ENST00000861052.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1036,
"aa_ref": "V",
"aa_start": 948,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3472,
"cdna_start": 2928,
"cds_end": null,
"cds_length": 3111,
"cds_start": 2844,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000861053.1",
"gene_hgnc_id": 9067,
"gene_symbol": "PLD1",
"hgvs_c": "c.2844G>A",
"hgvs_p": "p.Val948Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531112.1",
"strand": false,
"transcript": "ENST00000861053.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 1036,
"aa_ref": "V",
"aa_start": 948,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3814,
"cdna_start": 3273,
"cds_end": null,
"cds_length": 3111,
"cds_start": 2844,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000959556.1",
"gene_hgnc_id": 9067,
"gene_symbol": "PLD1",
"hgvs_c": "c.2844G>A",
"hgvs_p": "p.Val948Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629615.1",
"strand": false,
"transcript": "ENST00000959556.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 991,
"aa_ref": "V",
"aa_start": 903,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5345,
"cdna_start": 2832,
"cds_end": null,
"cds_length": 2976,
"cds_start": 2709,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000861049.1",
"gene_hgnc_id": 9067,
"gene_symbol": "PLD1",
"hgvs_c": "c.2709G>A",
"hgvs_p": "p.Val903Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531108.1",
"strand": false,
"transcript": "ENST00000861049.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 986,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5287,
"cdna_start": 2774,
"cds_end": null,
"cds_length": 2961,
"cds_start": 2694,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000861050.1",
"gene_hgnc_id": 9067,
"gene_symbol": "PLD1",
"hgvs_c": "c.2694G>A",
"hgvs_p": "p.Val898Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531109.1",
"strand": false,
"transcript": "ENST00000861050.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 968,
"aa_ref": "V",
"aa_start": 880,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3269,
"cdna_start": 2727,
"cds_end": null,
"cds_length": 2907,
"cds_start": 2640,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000959554.1",
"gene_hgnc_id": 9067,
"gene_symbol": "PLD1",
"hgvs_c": "c.2640G>A",
"hgvs_p": "p.Val880Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629613.1",
"strand": false,
"transcript": "ENST00000959554.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 1074,
"aa_ref": "V",
"aa_start": 986,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6062,
"cdna_start": 3121,
"cds_end": null,
"cds_length": 3225,
"cds_start": 2958,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_005247533.3",
"gene_hgnc_id": 9067,
"gene_symbol": "PLD1",
"hgvs_c": "c.2958G>A",
"hgvs_p": "p.Val986Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005247590.1",
"strand": false,
"transcript": "XM_005247533.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1074,
"aa_ref": "V",
"aa_start": 986,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6133,
"cdna_start": 3192,
"cds_end": null,
"cds_length": 3225,
"cds_start": 2958,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_047448316.1",
"gene_hgnc_id": 9067,
"gene_symbol": "PLD1",
"hgvs_c": "c.2958G>A",
"hgvs_p": "p.Val986Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304272.1",
"strand": false,
"transcript": "XM_047448316.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1036,
"aa_ref": "V",
"aa_start": 948,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5948,
"cdna_start": 3007,
"cds_end": null,
"cds_length": 3111,
"cds_start": 2844,
"consequences": [
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],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_005247534.3",
"gene_hgnc_id": 9067,
"gene_symbol": "PLD1",
"hgvs_c": "c.2844G>A",
"hgvs_p": "p.Val948Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005247591.1",
"strand": false,
"transcript": "XM_005247534.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 706,
"aa_ref": "V",
"aa_start": 618,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6864,
"cdna_start": 3923,
"cds_end": null,
"cds_length": 2121,
"cds_start": 1854,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047448318.1",
"gene_hgnc_id": 9067,
"gene_symbol": "PLD1",
"hgvs_c": "c.1854G>A",
"hgvs_p": "p.Val618Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304274.1",
"strand": false,
"transcript": "XM_047448318.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 657,
"aa_ref": "V",
"aa_start": 569,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5180,
"cdna_start": 2239,
"cds_end": null,
"cds_length": 1974,
"cds_start": 1707,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_011512899.3",
"gene_hgnc_id": 9067,
"gene_symbol": "PLD1",
"hgvs_c": "c.1707G>A",
"hgvs_p": "p.Val569Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011511201.1",
"strand": false,
"transcript": "XM_011512899.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 657,
"aa_ref": "V",
"aa_start": 569,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5302,
"cdna_start": 2361,
"cds_end": null,
"cds_length": 1974,
"cds_start": 1707,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_017006624.2",
"gene_hgnc_id": 9067,
"gene_symbol": "PLD1",
"hgvs_c": "c.1707G>A",
"hgvs_p": "p.Val569Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016862113.1",
"strand": false,
"transcript": "XM_017006624.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 969,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3199,
"cdna_start": null,
"cds_end": null,
"cds_length": 2910,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "XM_011512898.2",
"gene_hgnc_id": 9067,
"gene_symbol": "PLD1",
"hgvs_c": "c.*114G>A",
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}