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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": "NM_001371264.1",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265394.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031311.5"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_031311.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265394.10"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396276.7"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371264.1"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348052.1"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348054.1"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371255.1"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371256.1"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371257.1"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371258.1"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371260.1"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371261.1"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371262.1"
},
{
"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,
"aa_length": 476,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371263.1"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019029.3"
},
{
"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,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409850.5"
},
{
"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": "ENST00000886318.1",
"protein_id": "ENSP00000556377.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 476,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886318.1"
},
{
"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": "ENST00000886319.1",
"protein_id": "ENSP00000556378.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 476,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886319.1"
},
{
"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": "ENST00000886320.1",
"protein_id": "ENSP00000556379.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 476,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886320.1"
},
{
"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": "ENST00000886326.1",
"protein_id": "ENSP00000556385.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 476,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886326.1"
},
{
"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": "ENST00000933745.1",
"protein_id": "ENSP00000603804.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 476,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933745.1"
},
{
"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": "ENST00000959721.1",
"protein_id": "ENSP00000629780.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 476,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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}