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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: 3-123284710-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=123284710&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 123284710,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001378259.1",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.3684G>A",
"hgvs_p": "p.Leu1228Leu",
"transcript": "NM_183357.3",
"protein_id": "NP_899200.1",
"transcript_support_level": null,
"aa_start": 1228,
"aa_end": null,
"aa_length": 1261,
"cds_start": 3684,
"cds_end": null,
"cds_length": 3786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000462833.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_183357.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.3684G>A",
"hgvs_p": "p.Leu1228Leu",
"transcript": "ENST00000462833.6",
"protein_id": "ENSP00000419361.1",
"transcript_support_level": 1,
"aa_start": 1228,
"aa_end": null,
"aa_length": 1261,
"cds_start": 3684,
"cds_end": null,
"cds_length": 3786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_183357.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000462833.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.3846G>A",
"hgvs_p": "p.Leu1282Leu",
"transcript": "ENST00000850916.1",
"protein_id": "ENSP00000520999.1",
"transcript_support_level": null,
"aa_start": 1282,
"aa_end": null,
"aa_length": 1315,
"cds_start": 3846,
"cds_end": null,
"cds_length": 3948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000850916.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.3759G>A",
"hgvs_p": "p.Leu1253Leu",
"transcript": "NM_001378259.1",
"protein_id": "NP_001365188.1",
"transcript_support_level": null,
"aa_start": 1253,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3759,
"cds_end": null,
"cds_length": 3861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378259.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.3759G>A",
"hgvs_p": "p.Leu1253Leu",
"transcript": "ENST00000699718.1",
"protein_id": "ENSP00000514543.1",
"transcript_support_level": null,
"aa_start": 1253,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3759,
"cds_end": null,
"cds_length": 3861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699718.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.2658G>A",
"hgvs_p": "p.Leu886Leu",
"transcript": "ENST00000491190.5",
"protein_id": "ENSP00000418537.1",
"transcript_support_level": 2,
"aa_start": 886,
"aa_end": null,
"aa_length": 919,
"cds_start": 2658,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000491190.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.2649G>A",
"hgvs_p": "p.Leu883Leu",
"transcript": "ENST00000470367.2",
"protein_id": "ENSP00000514541.1",
"transcript_support_level": 4,
"aa_start": 883,
"aa_end": null,
"aa_length": 916,
"cds_start": 2649,
"cds_end": null,
"cds_length": 2751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000470367.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.2634G>A",
"hgvs_p": "p.Leu878Leu",
"transcript": "NM_001199642.1",
"protein_id": "NP_001186571.1",
"transcript_support_level": null,
"aa_start": 878,
"aa_end": null,
"aa_length": 911,
"cds_start": 2634,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199642.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.2634G>A",
"hgvs_p": "p.Leu878Leu",
"transcript": "ENST00000309879.9",
"protein_id": "ENSP00000308685.5",
"transcript_support_level": 2,
"aa_start": 878,
"aa_end": null,
"aa_length": 911,
"cds_start": 2634,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000309879.9"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.2361G>A",
"hgvs_p": "p.Leu787Leu",
"transcript": "ENST00000466617.6",
"protein_id": "ENSP00000420082.2",
"transcript_support_level": 5,
"aa_start": 787,
"aa_end": null,
"aa_length": 820,
"cds_start": 2361,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000466617.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.2361G>A",
"hgvs_p": "p.Leu787Leu",
"transcript": "ENST00000483566.2",
"protein_id": "ENSP00000420252.2",
"transcript_support_level": 4,
"aa_start": 787,
"aa_end": null,
"aa_length": 820,
"cds_start": 2361,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000483566.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.2361G>A",
"hgvs_p": "p.Leu787Leu",
"transcript": "ENST00000699714.1",
"protein_id": "ENSP00000514539.1",
"transcript_support_level": null,
"aa_start": 787,
"aa_end": null,
"aa_length": 820,
"cds_start": 2361,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699714.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.2361G>A",
"hgvs_p": "p.Leu787Leu",
"transcript": "ENST00000699715.1",
"protein_id": "ENSP00000514540.1",
"transcript_support_level": null,
"aa_start": 787,
"aa_end": null,
"aa_length": 820,
"cds_start": 2361,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699715.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.2361G>A",
"hgvs_p": "p.Leu787Leu",
"transcript": "ENST00000699716.1",
"protein_id": "ENSP00000514542.1",
"transcript_support_level": null,
"aa_start": 787,
"aa_end": null,
"aa_length": 820,
"cds_start": 2361,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699716.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.2760G>A",
"hgvs_p": "p.Leu920Leu",
"transcript": "XM_011512359.3",
"protein_id": "XP_011510661.1",
"transcript_support_level": null,
"aa_start": 920,
"aa_end": null,
"aa_length": 953,
"cds_start": 2760,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512359.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.2709G>A",
"hgvs_p": "p.Leu903Leu",
"transcript": "XM_005247078.1",
"protein_id": "XP_005247135.1",
"transcript_support_level": null,
"aa_start": 903,
"aa_end": null,
"aa_length": 936,
"cds_start": 2709,
"cds_end": null,
"cds_length": 2811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005247078.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.2685G>A",
"hgvs_p": "p.Leu895Leu",
"transcript": "XM_047447359.1",
"protein_id": "XP_047303315.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 928,
"cds_start": 2685,
"cds_end": null,
"cds_length": 2787,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447359.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.2670G>A",
"hgvs_p": "p.Leu890Leu",
"transcript": "XM_011512360.3",
"protein_id": "XP_011510662.1",
"transcript_support_level": null,
"aa_start": 890,
"aa_end": null,
"aa_length": 923,
"cds_start": 2670,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512360.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.2661G>A",
"hgvs_p": "p.Leu887Leu",
"transcript": "XM_017005638.1",
"protein_id": "XP_016861127.1",
"transcript_support_level": null,
"aa_start": 887,
"aa_end": null,
"aa_length": 920,
"cds_start": 2661,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005638.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.2661G>A",
"hgvs_p": "p.Leu887Leu",
"transcript": "XM_017005639.1",
"protein_id": "XP_016861128.1",
"transcript_support_level": null,
"aa_start": 887,
"aa_end": null,
"aa_length": 920,
"cds_start": 2661,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005639.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.2658G>A",
"hgvs_p": "p.Leu886Leu",
"transcript": "XM_006713483.2",
"protein_id": "XP_006713546.1",
"transcript_support_level": null,
"aa_start": 886,
"aa_end": null,
"aa_length": 919,
"cds_start": 2658,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713483.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.2595G>A",
"hgvs_p": "p.Leu865Leu",
"transcript": "XM_047447360.1",
"protein_id": "XP_047303316.1",
"transcript_support_level": null,
"aa_start": 865,
"aa_end": null,
"aa_length": 898,
"cds_start": 2595,
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{
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{
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{
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],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BP6",
"BP7"
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"verdict": "Likely_benign",
"transcript": "NM_001378259.1",
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"effects": [
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}