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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: 9-95876038-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=95876038&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 95876038,
"ref": "G",
"alt": "A",
"effect": "5_prime_UTR_variant",
"transcript": "NM_020207.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "c.-1G>A",
"hgvs_p": null,
"transcript": "NM_020207.7",
"protein_id": "NP_064592.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1550,
"cds_start": null,
"cds_end": null,
"cds_length": 4653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000653738.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020207.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "c.-1G>A",
"hgvs_p": null,
"transcript": "ENST00000653738.2",
"protein_id": "ENSP00000499221.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1550,
"cds_start": null,
"cds_end": null,
"cds_length": 4653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020207.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000653738.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "c.-1G>A",
"hgvs_p": null,
"transcript": "ENST00000288985.13",
"protein_id": "ENSP00000288985.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 701,
"cds_start": null,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000288985.13"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2-AS1",
"gene_hgnc_id": 27858,
"hgvs_c": "n.12C>T",
"hgvs_p": null,
"transcript": "ENST00000412446.6",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000412446.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "n.-1G>A",
"hgvs_p": null,
"transcript": "ENST00000456993.7",
"protein_id": "ENSP00000409751.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000456993.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "n.-1G>A",
"hgvs_p": null,
"transcript": "ENST00000456993.7",
"protein_id": "ENSP00000409751.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000456993.7"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "c.33G>A",
"hgvs_p": "p.Arg11Arg",
"transcript": "ENST00000715566.1",
"protein_id": "ENSP00000520479.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 1561,
"cds_start": 33,
"cds_end": null,
"cds_length": 4686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000715566.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "c.33G>A",
"hgvs_p": "p.Arg11Arg",
"transcript": "XM_011518641.4",
"protein_id": "XP_011516943.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 1510,
"cds_start": 33,
"cds_end": null,
"cds_length": 4533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518641.4"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "c.33G>A",
"hgvs_p": "p.Arg11Arg",
"transcript": "XM_047423357.1",
"protein_id": "XP_047279313.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 1202,
"cds_start": 33,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423357.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "c.33G>A",
"hgvs_p": "p.Arg11Arg",
"transcript": "XM_011518646.4",
"protein_id": "XP_011516948.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 1184,
"cds_start": 33,
"cds_end": null,
"cds_length": 3555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518646.4"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "c.33G>A",
"hgvs_p": "p.Arg11Arg",
"transcript": "XM_047423359.1",
"protein_id": "XP_047279315.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 751,
"cds_start": 33,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423359.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "c.33G>A",
"hgvs_p": "p.Arg11Arg",
"transcript": "XM_047423360.1",
"protein_id": "XP_047279316.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 711,
"cds_start": 33,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423360.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "c.33G>A",
"hgvs_p": "p.Arg11Arg",
"transcript": "XM_047423361.1",
"protein_id": "XP_047279317.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 700,
"cds_start": 33,
"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": "XM_047423361.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "c.33G>A",
"hgvs_p": "p.Arg11Arg",
"transcript": "XM_047423362.1",
"protein_id": "XP_047279318.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 683,
"cds_start": 33,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423362.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "c.-1G>A",
"hgvs_p": null,
"transcript": "ENST00000922957.1",
"protein_id": "ENSP00000593016.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1547,
"cds_start": null,
"cds_end": null,
"cds_length": 4644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922957.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "c.-1G>A",
"hgvs_p": null,
"transcript": "ENST00000683937.1",
"protein_id": "ENSP00000507442.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1535,
"cds_start": null,
"cds_end": null,
"cds_length": 4608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683937.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "c.-1G>A",
"hgvs_p": null,
"transcript": "ENST00000922956.1",
"protein_id": "ENSP00000593015.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1509,
"cds_start": null,
"cds_end": null,
"cds_length": 4530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922956.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "c.-1G>A",
"hgvs_p": null,
"transcript": "NM_001375291.1",
"protein_id": "NP_001362220.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1242,
"cds_start": null,
"cds_end": null,
"cds_length": 3729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375291.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "c.-1G>A",
"hgvs_p": null,
"transcript": "NM_001375292.1",
"protein_id": "NP_001362221.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1227,
"cds_start": null,
"cds_end": null,
"cds_length": 3684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375292.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "c.-1G>A",
"hgvs_p": null,
"transcript": "ENST00000957783.1",
"protein_id": "ENSP00000627842.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1216,
"cds_start": null,
"cds_end": null,
"cds_length": 3651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957783.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "c.-1G>A",
"hgvs_p": null,
"transcript": "NM_001375293.1",
"protein_id": "NP_001362222.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1186,
"cds_start": null,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375293.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "c.-1G>A",
"hgvs_p": null,
"transcript": "ENST00000683991.1",
"protein_id": "ENSP00000507383.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1186,
"cds_start": null,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683991.1"
},
{
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}
],
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}