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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: 3-158652154-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=158652154&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 158652154,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001308164.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM1",
"gene_hgnc_id": 13780,
"hgvs_c": "c.748C>G",
"hgvs_p": "p.Arg250Gly",
"transcript": "NM_024996.7",
"protein_id": "NP_079272.4",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 751,
"cds_start": 748,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000486715.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024996.7"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM1",
"gene_hgnc_id": 13780,
"hgvs_c": "c.748C>G",
"hgvs_p": "p.Arg250Gly",
"transcript": "ENST00000486715.6",
"protein_id": "ENSP00000419038.1",
"transcript_support_level": 1,
"aa_start": 250,
"aa_end": null,
"aa_length": 751,
"cds_start": 748,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024996.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000486715.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM1",
"gene_hgnc_id": 13780,
"hgvs_c": "c.826C>G",
"hgvs_p": "p.Arg276Gly",
"transcript": "ENST00000867690.1",
"protein_id": "ENSP00000537749.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 777,
"cds_start": 826,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867690.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM1",
"gene_hgnc_id": 13780,
"hgvs_c": "c.820C>G",
"hgvs_p": "p.Arg274Gly",
"transcript": "ENST00000867689.1",
"protein_id": "ENSP00000537748.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 775,
"cds_start": 820,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867689.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM1",
"gene_hgnc_id": 13780,
"hgvs_c": "c.805C>G",
"hgvs_p": "p.Arg269Gly",
"transcript": "NM_001308164.2",
"protein_id": "NP_001295093.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 770,
"cds_start": 805,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308164.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM1",
"gene_hgnc_id": 13780,
"hgvs_c": "c.805C>G",
"hgvs_p": "p.Arg269Gly",
"transcript": "ENST00000264263.9",
"protein_id": "ENSP00000264263.5",
"transcript_support_level": 5,
"aa_start": 269,
"aa_end": null,
"aa_length": 770,
"cds_start": 805,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264263.9"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM1",
"gene_hgnc_id": 13780,
"hgvs_c": "c.748C>G",
"hgvs_p": "p.Arg250Gly",
"transcript": "ENST00000867688.1",
"protein_id": "ENSP00000537747.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 750,
"cds_start": 748,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867688.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM1",
"gene_hgnc_id": 13780,
"hgvs_c": "c.727C>G",
"hgvs_p": "p.Arg243Gly",
"transcript": "ENST00000867686.1",
"protein_id": "ENSP00000537745.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 744,
"cds_start": 727,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867686.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM1",
"gene_hgnc_id": 13780,
"hgvs_c": "c.748C>G",
"hgvs_p": "p.Arg250Gly",
"transcript": "ENST00000867684.1",
"protein_id": "ENSP00000537743.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 733,
"cds_start": 748,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867684.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM1",
"gene_hgnc_id": 13780,
"hgvs_c": "c.748C>G",
"hgvs_p": "p.Arg250Gly",
"transcript": "ENST00000960374.1",
"protein_id": "ENSP00000630433.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 732,
"cds_start": 748,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960374.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM1",
"gene_hgnc_id": 13780,
"hgvs_c": "c.805C>G",
"hgvs_p": "p.Arg269Gly",
"transcript": "NM_001374355.1",
"protein_id": "NP_001361284.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 724,
"cds_start": 805,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374355.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM1",
"gene_hgnc_id": 13780,
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Arg211Gly",
"transcript": "NM_001374356.1",
"protein_id": "NP_001361285.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 712,
"cds_start": 631,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374356.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM1",
"gene_hgnc_id": 13780,
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Arg211Gly",
"transcript": "ENST00000867685.1",
"protein_id": "ENSP00000537744.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 712,
"cds_start": 631,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867685.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM1",
"gene_hgnc_id": 13780,
"hgvs_c": "c.748C>G",
"hgvs_p": "p.Arg250Gly",
"transcript": "ENST00000916372.1",
"protein_id": "ENSP00000586431.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 705,
"cds_start": 748,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916372.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM1",
"gene_hgnc_id": 13780,
"hgvs_c": "c.595C>G",
"hgvs_p": "p.Arg199Gly",
"transcript": "ENST00000867687.1",
"protein_id": "ENSP00000537746.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 700,
"cds_start": 595,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867687.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM1",
"gene_hgnc_id": 13780,
"hgvs_c": "c.586C>G",
"hgvs_p": "p.Arg196Gly",
"transcript": "ENST00000960376.1",
"protein_id": "ENSP00000630435.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 697,
"cds_start": 586,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960376.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM1",
"gene_hgnc_id": 13780,
"hgvs_c": "c.523C>G",
"hgvs_p": "p.Arg175Gly",
"transcript": "NM_001374357.1",
"protein_id": "NP_001361286.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 676,
"cds_start": 523,
"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": "NM_001374357.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM1",
"gene_hgnc_id": 13780,
"hgvs_c": "c.748C>G",
"hgvs_p": "p.Arg250Gly",
"transcript": "ENST00000960377.1",
"protein_id": "ENSP00000630436.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 649,
"cds_start": 748,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960377.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM1",
"gene_hgnc_id": 13780,
"hgvs_c": "c.289C>G",
"hgvs_p": "p.Arg97Gly",
"transcript": "NM_001374358.1",
"protein_id": "NP_001361287.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 598,
"cds_start": 289,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374358.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM1",
"gene_hgnc_id": 13780,
"hgvs_c": "c.289C>G",
"hgvs_p": "p.Arg97Gly",
"transcript": "ENST00000960375.1",
"protein_id": "ENSP00000630434.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 598,
"cds_start": 289,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960375.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM1",
"gene_hgnc_id": 13780,
"hgvs_c": "c.748C>G",
"hgvs_p": "p.Arg250Gly",
"transcript": "NM_001308166.2",
"protein_id": "NP_001295095.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 591,
"cds_start": 748,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308166.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM1",
"gene_hgnc_id": 13780,
"hgvs_c": "c.748C>G",
"hgvs_p": "p.Arg250Gly",
"transcript": "ENST00000478576.5",
"protein_id": "ENSP00000418755.1",
"transcript_support_level": 2,
"aa_start": 250,
"aa_end": null,
"aa_length": 591,
"cds_start": 748,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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"verdict": "Likely_pathogenic",
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{
"score": 6,
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"verdict": "Likely_pathogenic",
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"custom_annotations": null
}
],
"message": null
}