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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: 11-72329786-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=72329786&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 72329786,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_030813.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295Lys",
"transcript": "NM_030813.6",
"protein_id": "NP_110440.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 707,
"cds_start": 884,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "ENST00000294053.9",
"biotype": "protein_coding",
"feature": "NM_030813.6"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295Lys",
"transcript": "ENST00000294053.9",
"protein_id": "ENSP00000294053.3",
"transcript_support_level": 1,
"aa_start": 295,
"aa_end": null,
"aa_length": 707,
"cds_start": 884,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "NM_030813.6",
"biotype": "protein_coding",
"feature": "ENST00000294053.9"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.794G>A",
"hgvs_p": "p.Arg265Lys",
"transcript": "NM_001258392.3",
"protein_id": "NP_001245321.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 677,
"cds_start": 794,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000538039.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258392.3"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.794G>A",
"hgvs_p": "p.Arg265Lys",
"transcript": "ENST00000538039.6",
"protein_id": "ENSP00000441518.1",
"transcript_support_level": 2,
"aa_start": 265,
"aa_end": null,
"aa_length": 677,
"cds_start": 794,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001258392.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538039.6"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.857G>A",
"hgvs_p": "p.Arg286Lys",
"transcript": "ENST00000955687.1",
"protein_id": "ENSP00000625746.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 698,
"cds_start": 857,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955687.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295Lys",
"transcript": "ENST00000543042.6",
"protein_id": "ENSP00000439746.2",
"transcript_support_level": 2,
"aa_start": 295,
"aa_end": null,
"aa_length": 692,
"cds_start": 884,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543042.6"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.794G>A",
"hgvs_p": "p.Arg265Lys",
"transcript": "ENST00000955683.1",
"protein_id": "ENSP00000625742.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 688,
"cds_start": 794,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955683.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.869G>A",
"hgvs_p": "p.Arg290Lys",
"transcript": "ENST00000866362.1",
"protein_id": "ENSP00000536421.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 687,
"cds_start": 869,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866362.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.824G>A",
"hgvs_p": "p.Arg275Lys",
"transcript": "ENST00000866363.1",
"protein_id": "ENSP00000536422.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 687,
"cds_start": 824,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866363.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.791G>A",
"hgvs_p": "p.Arg264Lys",
"transcript": "ENST00000955688.1",
"protein_id": "ENSP00000625747.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 676,
"cds_start": 791,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955688.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.779G>A",
"hgvs_p": "p.Arg260Lys",
"transcript": "ENST00000955686.1",
"protein_id": "ENSP00000625745.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 672,
"cds_start": 779,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955686.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.749G>A",
"hgvs_p": "p.Arg250Lys",
"transcript": "NM_001258394.3",
"protein_id": "NP_001245323.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 662,
"cds_start": 749,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258394.3"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.794G>A",
"hgvs_p": "p.Arg265Lys",
"transcript": "ENST00000938927.1",
"protein_id": "ENSP00000608986.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 651,
"cds_start": 794,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938927.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.707G>A",
"hgvs_p": "p.Arg236Lys",
"transcript": "NM_001258393.3",
"protein_id": "NP_001245322.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 648,
"cds_start": 707,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258393.3"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.707G>A",
"hgvs_p": "p.Arg236Lys",
"transcript": "ENST00000340729.9",
"protein_id": "ENSP00000340385.5",
"transcript_support_level": 2,
"aa_start": 236,
"aa_end": null,
"aa_length": 648,
"cds_start": 707,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340729.9"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.794G>A",
"hgvs_p": "p.Arg265Lys",
"transcript": "ENST00000955685.1",
"protein_id": "ENSP00000625744.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 637,
"cds_start": 794,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955685.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222Lys",
"transcript": "ENST00000955684.1",
"protein_id": "ENSP00000625743.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 634,
"cds_start": 665,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955684.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.482G>A",
"hgvs_p": "p.Arg161Lys",
"transcript": "ENST00000866364.1",
"protein_id": "ENSP00000536423.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 573,
"cds_start": 482,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866364.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94Lys",
"transcript": "ENST00000642288.1",
"protein_id": "ENSP00000495167.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 381,
"cds_start": 281,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642288.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.356G>A",
"hgvs_p": "p.Arg119Lys",
"transcript": "ENST00000544683.5",
"protein_id": "ENSP00000442651.1",
"transcript_support_level": 5,
"aa_start": 119,
"aa_end": null,
"aa_length": 151,
"cds_start": 356,
"cds_end": null,
"cds_length": 458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544683.5"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266Lys",
"transcript": "XM_005274320.2",
"protein_id": "XP_005274377.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 678,
"cds_start": 797,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005274320.2"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.659G>A",
"hgvs_p": "p.Arg220Lys",
"transcript": "XM_047427655.1",
"protein_id": "XP_047283611.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 632,
"cds_start": 659,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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}
],
"message": null
}