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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: 7-29030704-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=29030704&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 29030704,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000265394.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.1193G>T",
"hgvs_p": "p.Arg398Leu",
"transcript": "NM_031311.5",
"protein_id": "NP_112601.3",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 476,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 2087,
"mane_select": "ENST00000265394.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.1193G>T",
"hgvs_p": "p.Arg398Leu",
"transcript": "ENST00000265394.10",
"protein_id": "ENSP00000265394.5",
"transcript_support_level": 1,
"aa_start": 398,
"aa_end": null,
"aa_length": 476,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 2087,
"mane_select": "NM_031311.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.1193G>T",
"hgvs_p": "p.Arg398Leu",
"transcript": "ENST00000396276.7",
"protein_id": "ENSP00000379572.3",
"transcript_support_level": 1,
"aa_start": 398,
"aa_end": null,
"aa_length": 476,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1360,
"cdna_end": null,
"cdna_length": 1739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.1235G>T",
"hgvs_p": "p.Arg412Leu",
"transcript": "NM_001371264.1",
"protein_id": "NP_001358193.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 490,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1788,
"cdna_end": null,
"cdna_length": 3162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.1193G>T",
"hgvs_p": "p.Arg398Leu",
"transcript": "NM_001348052.1",
"protein_id": "NP_001334981.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 476,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1829,
"cdna_end": null,
"cdna_length": 2608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.1193G>T",
"hgvs_p": "p.Arg398Leu",
"transcript": "NM_001348054.1",
"protein_id": "NP_001334983.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 476,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1701,
"cdna_end": null,
"cdna_length": 2480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.1193G>T",
"hgvs_p": "p.Arg398Leu",
"transcript": "NM_001371255.1",
"protein_id": "NP_001358184.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 476,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 2027,
"cdna_end": null,
"cdna_length": 3401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.1193G>T",
"hgvs_p": "p.Arg398Leu",
"transcript": "NM_001371256.1",
"protein_id": "NP_001358185.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 476,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1841,
"cdna_end": null,
"cdna_length": 3215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.1193G>T",
"hgvs_p": "p.Arg398Leu",
"transcript": "NM_001371257.1",
"protein_id": "NP_001358186.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 476,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 2006,
"cdna_end": null,
"cdna_length": 3380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.1193G>T",
"hgvs_p": "p.Arg398Leu",
"transcript": "NM_001371258.1",
"protein_id": "NP_001358187.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 476,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1713,
"cdna_end": null,
"cdna_length": 3087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.1193G>T",
"hgvs_p": "p.Arg398Leu",
"transcript": "NM_001371260.1",
"protein_id": "NP_001358189.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 476,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1831,
"cdna_end": null,
"cdna_length": 3205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.1193G>T",
"hgvs_p": "p.Arg398Leu",
"transcript": "NM_001371261.1",
"protein_id": "NP_001358190.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 476,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1495,
"cdna_end": null,
"cdna_length": 2869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.1193G>T",
"hgvs_p": "p.Arg398Leu",
"transcript": "NM_001371262.1",
"protein_id": "NP_001358191.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 476,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1515,
"cdna_end": null,
"cdna_length": 2889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.1193G>T",
"hgvs_p": "p.Arg398Leu",
"transcript": "NM_001371263.1",
"protein_id": "NP_001358192.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
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"cds_start": 1193,
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"cdna_start": 1728,
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"cdna_length": 3102,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.1193G>T",
"hgvs_p": "p.Arg398Leu",
"transcript": "NM_019029.3",
"protein_id": "NP_061902.2",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 476,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1400,
"cdna_end": null,
"cdna_length": 2179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.1193G>T",
"hgvs_p": "p.Arg398Leu",
"transcript": "ENST00000409850.5",
"protein_id": "ENSP00000387164.1",
"transcript_support_level": 2,
"aa_start": 398,
"aa_end": null,
"aa_length": 476,
"cds_start": 1193,
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"cdna_start": 1840,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.983G>T",
"hgvs_p": "p.Arg328Leu",
"transcript": "NM_001371265.1",
"protein_id": "NP_001358194.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 406,
"cds_start": 983,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 2006,
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"cdna_length": 3380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.983G>T",
"hgvs_p": "p.Arg328Leu",
"transcript": "NM_001371266.1",
"protein_id": "NP_001358195.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 406,
"cds_start": 983,
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"cds_length": 1221,
"cdna_start": 1874,
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"cdna_length": 3248,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.983G>T",
"hgvs_p": "p.Arg328Leu",
"transcript": "NM_001371267.1",
"protein_id": "NP_001358196.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 406,
"cds_start": 983,
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"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.659G>T",
"hgvs_p": "p.Arg220Leu",
"transcript": "NM_001371268.1",
"protein_id": "NP_001358197.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 298,
"cds_start": 659,
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"cdna_start": 1044,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.302G>T",
"hgvs_p": "p.Arg101Leu",
"transcript": "ENST00000432534.5",
"protein_id": "ENSP00000397327.1",
"transcript_support_level": 3,
"aa_start": 101,
"aa_end": null,
"aa_length": 179,
"cds_start": 302,
"cds_end": null,
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"cdna_start": 303,
"cdna_end": null,
"cdna_length": 679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.188G>T",
"hgvs_p": "p.Arg63Leu",
"transcript": "ENST00000455893.6",
"protein_id": "ENSP00000403580.2",
"transcript_support_level": 5,
"aa_start": 63,
"aa_end": null,
"aa_length": 141,
"cds_start": 188,
"cds_end": null,
"cds_length": 426,
"cdna_start": 188,
"cdna_end": null,
"cdna_length": 561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.1193G>T",
"hgvs_p": "p.Arg398Leu",
"transcript": "XM_011515437.2",
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{
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"PP3"
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"verdict": "Uncertain_significance",
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"clinvar_disease": "",
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"custom_annotations": null
}
],
"message": null
}