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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: 3-75738395-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=75738395&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 75738395,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000652011.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF717",
"gene_hgnc_id": 29448,
"hgvs_c": "c.1228C>G",
"hgvs_p": "p.Leu410Val",
"transcript": "NM_001290208.3",
"protein_id": "NP_001277137.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 914,
"cds_start": 1228,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 1396,
"cdna_end": null,
"cdna_length": 3923,
"mane_select": "ENST00000652011.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF717",
"gene_hgnc_id": 29448,
"hgvs_c": "c.1228C>G",
"hgvs_p": "p.Leu410Val",
"transcript": "ENST00000652011.2",
"protein_id": "ENSP00000498738.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 914,
"cds_start": 1228,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 1396,
"cdna_end": null,
"cdna_length": 3923,
"mane_select": "NM_001290208.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF717",
"gene_hgnc_id": 29448,
"hgvs_c": "c.1330C>G",
"hgvs_p": "p.Leu444Val",
"transcript": "ENST00000850935.1",
"protein_id": "ENSP00000521016.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 948,
"cds_start": 1330,
"cds_end": null,
"cds_length": 2847,
"cdna_start": 1377,
"cdna_end": null,
"cdna_length": 4130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF717",
"gene_hgnc_id": 29448,
"hgvs_c": "c.1228C>G",
"hgvs_p": "p.Leu410Val",
"transcript": "NM_001128223.3",
"protein_id": "NP_001121695.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 914,
"cds_start": 1228,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 1449,
"cdna_end": null,
"cdna_length": 3974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF717",
"gene_hgnc_id": 29448,
"hgvs_c": "c.1078C>G",
"hgvs_p": "p.Leu360Val",
"transcript": "NM_001290209.3",
"protein_id": "NP_001277138.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 864,
"cds_start": 1078,
"cds_end": null,
"cds_length": 2595,
"cdna_start": 1425,
"cdna_end": null,
"cdna_length": 3952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "ZNF717",
"gene_hgnc_id": 29448,
"hgvs_c": "c.1078C>G",
"hgvs_p": "p.Leu360Val",
"transcript": "ENST00000478296.5",
"protein_id": "ENSP00000419377.1",
"transcript_support_level": 5,
"aa_start": 360,
"aa_end": null,
"aa_length": 864,
"cds_start": 1078,
"cds_end": null,
"cds_length": 2595,
"cdna_start": 1355,
"cdna_end": null,
"cdna_length": 3875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF717",
"gene_hgnc_id": 29448,
"hgvs_c": "c.1228C>G",
"hgvs_p": "p.Leu410Val",
"transcript": "NM_001324027.1",
"protein_id": "NP_001310956.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 798,
"cds_start": 1228,
"cds_end": null,
"cds_length": 2397,
"cdna_start": 1449,
"cdna_end": null,
"cdna_length": 3107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF717",
"gene_hgnc_id": 29448,
"hgvs_c": "c.1330C>G",
"hgvs_p": "p.Leu444Val",
"transcript": "XM_011533244.4",
"protein_id": "XP_011531546.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 948,
"cds_start": 1330,
"cds_end": null,
"cds_length": 2847,
"cdna_start": 1362,
"cdna_end": null,
"cdna_length": 3889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF717",
"gene_hgnc_id": 29448,
"hgvs_c": "c.1264C>G",
"hgvs_p": "p.Leu422Val",
"transcript": "XM_011533245.4",
"protein_id": "XP_011531547.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 926,
"cds_start": 1264,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 1484,
"cdna_end": null,
"cdna_length": 4011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "ZNF717",
"gene_hgnc_id": 29448,
"hgvs_c": "c.1330C>G",
"hgvs_p": "p.Leu444Val",
"transcript": "XM_011533246.4",
"protein_id": "XP_011531548.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 921,
"cds_start": 1330,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 1362,
"cdna_end": null,
"cdna_length": 4723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF717",
"gene_hgnc_id": 29448,
"hgvs_c": "c.1228C>G",
"hgvs_p": "p.Leu410Val",
"transcript": "XM_005264711.5",
"protein_id": "XP_005264768.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 914,
"cds_start": 1228,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 1498,
"cdna_end": null,
"cdna_length": 4025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF717",
"gene_hgnc_id": 29448,
"hgvs_c": "c.1228C>G",
"hgvs_p": "p.Leu410Val",
"transcript": "XM_047447038.1",
"protein_id": "XP_047302994.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 914,
"cds_start": 1228,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 1376,
"cdna_end": null,
"cdna_length": 3903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF717",
"gene_hgnc_id": 29448,
"hgvs_c": "c.1228C>G",
"hgvs_p": "p.Leu410Val",
"transcript": "XM_047447039.1",
"protein_id": "XP_047302995.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 914,
"cds_start": 1228,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 1274,
"cdna_end": null,
"cdna_length": 3801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF717",
"gene_hgnc_id": 29448,
"hgvs_c": "c.1207C>G",
"hgvs_p": "p.Leu403Val",
"transcript": "XM_024453284.2",
"protein_id": "XP_024309052.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 907,
"cds_start": 1207,
"cds_end": null,
"cds_length": 2724,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 4107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF717",
"gene_hgnc_id": 29448,
"hgvs_c": "c.1330C>G",
"hgvs_p": "p.Leu444Val",
"transcript": "XM_011533248.3",
"protein_id": "XP_011531550.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 865,
"cds_start": 1330,
"cds_end": null,
"cds_length": 2598,
"cdna_start": 1362,
"cdna_end": null,
"cdna_length": 3282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF717",
"gene_hgnc_id": 29448,
"hgvs_c": "c.1330C>G",
"hgvs_p": "p.Leu444Val",
"transcript": "XM_011533249.4",
"protein_id": "XP_011531551.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 832,
"cds_start": 1330,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 1362,
"cdna_end": null,
"cdna_length": 3020,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF717",
"gene_hgnc_id": 29448,
"hgvs_c": "n.*1228C>G",
"hgvs_p": null,
"transcript": "ENST00000850936.1",
"protein_id": "ENSP00000521017.1",
"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": 4052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF717",
"gene_hgnc_id": 29448,
"hgvs_c": "n.*1228C>G",
"hgvs_p": null,
"transcript": "ENST00000850936.1",
"protein_id": "ENSP00000521017.1",
"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": 4052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF717",
"gene_hgnc_id": 29448,
"hgvs_c": "c.277+2881C>G",
"hgvs_p": null,
"transcript": "NM_001290210.2",
"protein_id": "NP_001277139.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 114,
"cds_start": -4,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZNF717",
"gene_hgnc_id": 29448,
"hgvs_c": "c.277+2881C>G",
"hgvs_p": null,
"transcript": "NM_001324026.2",
"protein_id": "NP_001310955.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 114,
"cds_start": -4,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF717",
"gene_hgnc_id": 29448,
"hgvs_c": "c.277+2881C>G",
"hgvs_p": null,
"transcript": "ENST00000477374.5",
"protein_id": "ENSP00000417902.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 114,
"cds_start": -4,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF717",
"gene_hgnc_id": 29448,
"hgvs_c": "c.256+2881C>G",
"hgvs_p": null,
"transcript": "NM_001324028.1",
"protein_id": "NP_001310957.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 107,
"cds_start": -4,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF717",
"gene_hgnc_id": 29448,
"hgvs_c": "n.544+2881C>G",
"hgvs_p": null,
"transcript": "ENST00000491507.1",
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"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"BA1"
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"verdict": "Benign",
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"inheritance_mode": "AR",
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{
"score": -12,
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"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000668145.2",
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"effects": [
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],
"inheritance_mode": "",
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},
{
"score": -12,
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"BA1"
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],
"clinvar_disease": "Prostate cancer,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Prostate cancer|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}