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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: 1-151662247-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=151662247&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 151662247,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000458013.7",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.883A>T",
"hgvs_p": "p.Ser295Cys",
"transcript": "NM_001330723.2",
"protein_id": "NP_001317652.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 541,
"cds_start": 883,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 1035,
"cdna_end": null,
"cdna_length": 6441,
"mane_select": "ENST00000458013.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.883A>T",
"hgvs_p": "p.Ser295Cys",
"transcript": "ENST00000458013.7",
"protein_id": "ENSP00000400333.2",
"transcript_support_level": 5,
"aa_start": 295,
"aa_end": null,
"aa_length": 541,
"cds_start": 883,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 1035,
"cdna_end": null,
"cdna_length": 6441,
"mane_select": "NM_001330723.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.883A>T",
"hgvs_p": "p.Ser295Cys",
"transcript": "ENST00000368843.8",
"protein_id": "ENSP00000357836.3",
"transcript_support_level": 1,
"aa_start": 295,
"aa_end": null,
"aa_length": 528,
"cds_start": 883,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 1056,
"cdna_end": null,
"cdna_length": 7250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.478A>T",
"hgvs_p": "p.Ser160Cys",
"transcript": "ENST00000368838.2",
"protein_id": "ENSP00000357831.2",
"transcript_support_level": 1,
"aa_start": 160,
"aa_end": null,
"aa_length": 393,
"cds_start": 478,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 2046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "n.*554A>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "n.*554A>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.883A>T",
"hgvs_p": "p.Ser295Cys",
"transcript": "NM_030918.6",
"protein_id": "NP_112180.4",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 528,
"cds_start": 883,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 1035,
"cdna_end": null,
"cdna_length": 7218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.580A>T",
"hgvs_p": "p.Ser194Cys",
"transcript": "NM_001437601.1",
"protein_id": "NP_001424530.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 440,
"cds_start": 580,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 6138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.574A>T",
"hgvs_p": "p.Ser192Cys",
"transcript": "NM_001437602.1",
"protein_id": "NP_001424531.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 438,
"cds_start": 574,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 964,
"cdna_end": null,
"cdna_length": 6370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.580A>T",
"hgvs_p": "p.Ser194Cys",
"transcript": "NM_001437603.1",
"protein_id": "NP_001424532.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 427,
"cds_start": 580,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 6915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.574A>T",
"hgvs_p": "p.Ser192Cys",
"transcript": "NM_001437604.1",
"protein_id": "NP_001424533.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 425,
"cds_start": 574,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 964,
"cdna_end": null,
"cdna_length": 7147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.520A>T",
"hgvs_p": "p.Ser174Cys",
"transcript": "NM_001437605.1",
"protein_id": "NP_001424534.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 420,
"cds_start": 520,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 672,
"cdna_end": null,
"cdna_length": 6078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.520A>T",
"hgvs_p": "p.Ser174Cys",
"transcript": "NM_001437606.1",
"protein_id": "NP_001424535.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 407,
"cds_start": 520,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 672,
"cdna_end": null,
"cdna_length": 6855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.520A>T",
"hgvs_p": "p.Ser174Cys",
"transcript": "ENST00000642376.1",
"protein_id": "ENSP00000496645.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 407,
"cds_start": 520,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 716,
"cdna_end": null,
"cdna_length": 1437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.325A>T",
"hgvs_p": "p.Ser109Cys",
"transcript": "NM_001437607.1",
"protein_id": "NP_001424536.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 355,
"cds_start": 325,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 803,
"cdna_end": null,
"cdna_length": 6209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.325A>T",
"hgvs_p": "p.Ser109Cys",
"transcript": "NM_001437608.1",
"protein_id": "NP_001424537.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 342,
"cds_start": 325,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 904,
"cdna_end": null,
"cdna_length": 7087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.205A>T",
"hgvs_p": "p.Ser69Cys",
"transcript": "ENST00000482791.2",
"protein_id": "ENSP00000493556.1",
"transcript_support_level": 3,
"aa_start": 69,
"aa_end": null,
"aa_length": 193,
"cds_start": 205,
"cds_end": null,
"cds_length": 582,
"cdna_start": 206,
"cdna_end": null,
"cdna_length": 695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_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": "n.*554A>T",
"hgvs_p": null,
"transcript": "ENST00000642349.1",
"protein_id": "ENSP00000494331.1",
"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": 2313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "n.*261A>T",
"hgvs_p": null,
"transcript": "ENST00000642479.1",
"protein_id": "ENSP00000496775.1",
"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": 1347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_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": "n.691A>T",
"hgvs_p": null,
"transcript": "ENST00000643179.1",
"protein_id": null,
"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": 2777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "n.604A>T",
"hgvs_p": null,
"transcript": "ENST00000643814.1",
"protein_id": null,
"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": 1926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "n.561A>T",
"hgvs_p": null,
"transcript": "ENST00000643937.1",
"protein_id": null,
"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": 2148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "n.567A>T",
"hgvs_p": null,
"transcript": "ENST00000644113.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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}
],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
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{
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"verdict": "Uncertain_significance",
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}