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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: 3-151213886-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=151213886&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 151213886,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_014879.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RY14",
"gene_hgnc_id": 16442,
"hgvs_c": "c.431T>C",
"hgvs_p": "p.Ile144Thr",
"transcript": "NM_014879.4",
"protein_id": "NP_055694.3",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 338,
"cds_start": 431,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000309170.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014879.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RY14",
"gene_hgnc_id": 16442,
"hgvs_c": "c.431T>C",
"hgvs_p": "p.Ile144Thr",
"transcript": "ENST00000309170.8",
"protein_id": "ENSP00000308361.3",
"transcript_support_level": 1,
"aa_start": 144,
"aa_end": null,
"aa_length": 338,
"cds_start": 431,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014879.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000309170.8"
},
{
"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": 45,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "MED12L",
"gene_hgnc_id": 16050,
"hgvs_c": "c.2250+20220A>G",
"hgvs_p": null,
"transcript": "NM_001393769.1",
"protein_id": "NP_001380698.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2180,
"cds_start": null,
"cds_end": null,
"cds_length": 6543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000687756.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393769.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "MED12L",
"gene_hgnc_id": 16050,
"hgvs_c": "c.2250+20220A>G",
"hgvs_p": null,
"transcript": "ENST00000687756.1",
"protein_id": "ENSP00000508695.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2180,
"cds_start": null,
"cds_end": null,
"cds_length": 6543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001393769.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687756.1"
},
{
"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": 43,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "MED12L",
"gene_hgnc_id": 16050,
"hgvs_c": "c.2145+20220A>G",
"hgvs_p": null,
"transcript": "ENST00000474524.5",
"protein_id": "ENSP00000417235.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2145,
"cds_start": null,
"cds_end": null,
"cds_length": 6438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000474524.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RY14",
"gene_hgnc_id": 16442,
"hgvs_c": "c.431T>C",
"hgvs_p": "p.Ile144Thr",
"transcript": "NM_001081455.2",
"protein_id": "NP_001074924.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 338,
"cds_start": 431,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001081455.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RY14",
"gene_hgnc_id": 16442,
"hgvs_c": "c.431T>C",
"hgvs_p": "p.Ile144Thr",
"transcript": "ENST00000424796.6",
"protein_id": "ENSP00000408733.2",
"transcript_support_level": 2,
"aa_start": 144,
"aa_end": null,
"aa_length": 338,
"cds_start": 431,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424796.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RY14",
"gene_hgnc_id": 16442,
"hgvs_c": "c.431T>C",
"hgvs_p": "p.Ile144Thr",
"transcript": "ENST00000908303.1",
"protein_id": "ENSP00000578362.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 338,
"cds_start": 431,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908303.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RY14",
"gene_hgnc_id": 16442,
"hgvs_c": "c.431T>C",
"hgvs_p": "p.Ile144Thr",
"transcript": "ENST00000908304.1",
"protein_id": "ENSP00000578363.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 338,
"cds_start": 431,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908304.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RY14",
"gene_hgnc_id": 16442,
"hgvs_c": "c.431T>C",
"hgvs_p": "p.Ile144Thr",
"transcript": "ENST00000908305.1",
"protein_id": "ENSP00000578364.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 338,
"cds_start": 431,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908305.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RY14",
"gene_hgnc_id": 16442,
"hgvs_c": "c.431T>C",
"hgvs_p": "p.Ile144Thr",
"transcript": "ENST00000908306.1",
"protein_id": "ENSP00000578365.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 338,
"cds_start": 431,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908306.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RY14",
"gene_hgnc_id": 16442,
"hgvs_c": "c.431T>C",
"hgvs_p": "p.Ile144Thr",
"transcript": "ENST00000908307.1",
"protein_id": "ENSP00000578366.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 338,
"cds_start": 431,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908307.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RY14",
"gene_hgnc_id": 16442,
"hgvs_c": "c.431T>C",
"hgvs_p": "p.Ile144Thr",
"transcript": "ENST00000908308.1",
"protein_id": "ENSP00000578367.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 338,
"cds_start": 431,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908308.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RY14",
"gene_hgnc_id": 16442,
"hgvs_c": "c.431T>C",
"hgvs_p": "p.Ile144Thr",
"transcript": "ENST00000908309.1",
"protein_id": "ENSP00000578368.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 338,
"cds_start": 431,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908309.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RY14",
"gene_hgnc_id": 16442,
"hgvs_c": "c.431T>C",
"hgvs_p": "p.Ile144Thr",
"transcript": "ENST00000908310.1",
"protein_id": "ENSP00000578369.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 338,
"cds_start": 431,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908310.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RY14",
"gene_hgnc_id": 16442,
"hgvs_c": "c.431T>C",
"hgvs_p": "p.Ile144Thr",
"transcript": "ENST00000945445.1",
"protein_id": "ENSP00000615504.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 338,
"cds_start": 431,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945445.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RY14",
"gene_hgnc_id": 16442,
"hgvs_c": "c.431T>C",
"hgvs_p": "p.Ile144Thr",
"transcript": "ENST00000945446.1",
"protein_id": "ENSP00000615505.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 338,
"cds_start": 431,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945446.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RY14",
"gene_hgnc_id": 16442,
"hgvs_c": "c.431T>C",
"hgvs_p": "p.Ile144Thr",
"transcript": "ENST00000945447.1",
"protein_id": "ENSP00000615506.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 338,
"cds_start": 431,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945447.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RY14",
"gene_hgnc_id": 16442,
"hgvs_c": "c.431T>C",
"hgvs_p": "p.Ile144Thr",
"transcript": "XM_005247922.4",
"protein_id": "XP_005247979.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 338,
"cds_start": 431,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005247922.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RY14",
"gene_hgnc_id": 16442,
"hgvs_c": "c.431T>C",
"hgvs_p": "p.Ile144Thr",
"transcript": "XM_005247923.4",
"protein_id": "XP_005247980.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 338,
"cds_start": 431,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005247923.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RY14",
"gene_hgnc_id": 16442,
"hgvs_c": "c.431T>C",
"hgvs_p": "p.Ile144Thr",
"transcript": "XM_011513340.4",
"protein_id": "XP_011511642.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 338,
"cds_start": 431,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513340.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RY14",
"gene_hgnc_id": 16442,
"hgvs_c": "c.431T>C",
"hgvs_p": "p.Ile144Thr",
"transcript": "XM_017007583.3",
"protein_id": "XP_016863072.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 338,
"cds_start": 431,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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{
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],
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"dbsnp": "rs754601212",
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"computational_score_selected": 0.15784063935279846,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.179,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.048,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014879.4",
"gene_symbol": "P2RY14",
"hgnc_id": 16442,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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{
"score": -6,
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"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001393769.1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
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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
}