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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: 1-151666010-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=151666010&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 151666010,
"ref": "T",
"alt": "C",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "NM_001330723.2",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.984T>C",
"hgvs_p": "p.Phe328Phe",
"transcript": "NM_001330723.2",
"protein_id": "NP_001317652.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 541,
"cds_start": 984,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000458013.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330723.2"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.984T>C",
"hgvs_p": "p.Phe328Phe",
"transcript": "ENST00000458013.7",
"protein_id": "ENSP00000400333.2",
"transcript_support_level": 5,
"aa_start": 328,
"aa_end": null,
"aa_length": 541,
"cds_start": 984,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001330723.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458013.7"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.984T>C",
"hgvs_p": "p.Phe328Phe",
"transcript": "ENST00000368843.8",
"protein_id": "ENSP00000357836.3",
"transcript_support_level": 1,
"aa_start": 328,
"aa_end": null,
"aa_length": 528,
"cds_start": 984,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368843.8"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.579T>C",
"hgvs_p": "p.Phe193Phe",
"transcript": "ENST00000368838.2",
"protein_id": "ENSP00000357831.2",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 393,
"cds_start": 579,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368838.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "n.*655T>C",
"hgvs_p": null,
"transcript": "ENST00000368841.7",
"protein_id": "ENSP00000357834.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000368841.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "n.*655T>C",
"hgvs_p": null,
"transcript": "ENST00000368841.7",
"protein_id": "ENSP00000357834.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000368841.7"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.984T>C",
"hgvs_p": "p.Phe328Phe",
"transcript": "NM_030918.6",
"protein_id": "NP_112180.4",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 528,
"cds_start": 984,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030918.6"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.984T>C",
"hgvs_p": "p.Phe328Phe",
"transcript": "ENST00000891333.1",
"protein_id": "ENSP00000561392.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 521,
"cds_start": 984,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891333.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.879T>C",
"hgvs_p": "p.Phe293Phe",
"transcript": "ENST00000891332.1",
"protein_id": "ENSP00000561391.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 506,
"cds_start": 879,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891332.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.681T>C",
"hgvs_p": "p.Phe227Phe",
"transcript": "NM_001437601.1",
"protein_id": "NP_001424530.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 440,
"cds_start": 681,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437601.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.681T>C",
"hgvs_p": "p.Phe227Phe",
"transcript": "ENST00000891330.1",
"protein_id": "ENSP00000561389.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 440,
"cds_start": 681,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891330.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.675T>C",
"hgvs_p": "p.Phe225Phe",
"transcript": "NM_001437602.1",
"protein_id": "NP_001424531.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 438,
"cds_start": 675,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437602.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.681T>C",
"hgvs_p": "p.Phe227Phe",
"transcript": "NM_001437603.1",
"protein_id": "NP_001424532.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 427,
"cds_start": 681,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437603.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.675T>C",
"hgvs_p": "p.Phe225Phe",
"transcript": "NM_001437604.1",
"protein_id": "NP_001424533.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 425,
"cds_start": 675,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437604.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.621T>C",
"hgvs_p": "p.Phe207Phe",
"transcript": "NM_001437605.1",
"protein_id": "NP_001424534.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 420,
"cds_start": 621,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437605.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.621T>C",
"hgvs_p": "p.Phe207Phe",
"transcript": "ENST00000891331.1",
"protein_id": "ENSP00000561390.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 420,
"cds_start": 621,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891331.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.621T>C",
"hgvs_p": "p.Phe207Phe",
"transcript": "NM_001437606.1",
"protein_id": "NP_001424535.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 407,
"cds_start": 621,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437606.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.621T>C",
"hgvs_p": "p.Phe207Phe",
"transcript": "ENST00000642376.1",
"protein_id": "ENSP00000496645.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 407,
"cds_start": 621,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642376.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.426T>C",
"hgvs_p": "p.Phe142Phe",
"transcript": "NM_001437607.1",
"protein_id": "NP_001424536.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 355,
"cds_start": 426,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437607.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.426T>C",
"hgvs_p": "p.Phe142Phe",
"transcript": "NM_001437608.1",
"protein_id": "NP_001424537.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 342,
"cds_start": 426,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437608.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.306T>C",
"hgvs_p": "p.Phe102Phe",
"transcript": "ENST00000482791.2",
"protein_id": "ENSP00000493556.1",
"transcript_support_level": 3,
"aa_start": 102,
"aa_end": null,
"aa_length": 193,
"cds_start": 306,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000482791.2"
},
{
"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": 6,
"intron_rank": 1,
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],
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"computational_score_selected": -0.3499999940395355,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": "Benign",
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"revel_prediction": null,
"alphamissense_score": null,
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"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.371,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": "Benign",
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"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
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"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001330723.2",
"gene_symbol": "SNX27",
"hgnc_id": 20073,
"effects": [
"splice_region_variant",
"synonymous_variant"
],
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}
],
"clinvar_disease": "SNX27-related disorder,Severe myoclonic epilepsy in infancy,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "Severe myoclonic epilepsy in infancy|SNX27-related disorder|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}